P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358650 13q13.1 13 32316463 G T M I 1 1 missense 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000735545 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358650 13q13.1 13 32316463 G T M I 1 1 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031452,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496217 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358650 13q13.1 13 32316463 G A M I 1 1 missense 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083102,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044328,pubmed:25394175,ClinVar:RCV000162893 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358547 13q13.1 13 32316462 T A M K 1 1 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496424 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358547 13q13.1 13 32316462 T G M R 1 1 missense 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113010,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044102,pubmed:25394175,ClinVar:RCV000131870 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358547 13q13.1 13 32316462 T C M T 1 1 missense 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662990,pubmed:25394175,ClinVar:RCV000165930 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358547 13q13.1 13 32316462 T C M T 1 1 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000781042 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs863224464 13q13.1 13 32316461 A G M V 1 1 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195819 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358836 13q13.1 13 32316465 C T P L 2 2 missense 0.214 benign 0.025 deleterious, deleterious - low confidence 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113015 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1266625701 13q13.1 13 32316464 C T P S 2 2 missense 0.006 benign 0.275 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280096 13q13.1 13 32316468 T C I T 3 3 missense 0.127 benign 0.035 deleterious - low confidence, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs770479195 13q13.1 13 32316467 A G I V 3 3 missense 0.0015 benign 0.43 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000536609,pubmed:25394175,ClinVar:RCV000222062 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507571 13q13.1 13 32316470 G T G * 4 4 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 ClinVar:RCV000769679,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257718 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782137 13q13.1 13 32316471 G C G A 4 4 missense 0.827 possibly damaging 0.05 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637700,pubmed:25394175,ClinVar:RCV000167014 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782137 13q13.1 13 32316471 G A G E 4 4 missense 0.056 benign 0.0 deleterious - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000537170 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs587782137 13q13.1 13 32316471 G A G E 4 4 missense 0.366 benign 0.31 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1478936460 13q13.1 13 32316473 T C S P 5 5 missense 0.421 benign, possibly damaging 0.185 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs794727232 13q13.1 13 32316476 A C K Q 6 6 missense 0.6655 benign, probably damaging 0.025 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358527 13q13.1 13 32316486 C T P L 9 9 missense 0.976 probably damaging 0.0 deleterious, deleterious - low confidence 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113031 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358527 13q13.1 13 32316486 C A P Q 9 9 missense 0.9905 probably damaging 0.0 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358527 13q13.1 13 32316486 C G P R 9 9 missense 0.9865 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000464920 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203080 13q13.1 13 32316488 A G T A 10 10 missense 0.461 benign, possibly damaging 0.025 deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166222 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057519494 13q13.1 13 32316489 C A T K 10 10 missense 0.7605 possibly damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000416544,pubmed:25394175,ClinVar:RCV000567907 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280103 13q13.1 13 32316493 T G F L 11 11 missense 0.5145 benign, probably damaging 0.025 deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637679,pubmed:25394175,ClinVar:RCV000565547 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566214589 13q13.1 13 32316491 T G F V 11 11 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772547 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587782872 13q13.1 13 32316495 T C F S 12 12 missense 0.907 possibly damaging, probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701357,pubmed:25394175,ClinVar:RCV000132497 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358597 13q13.1 13 32316494 T G F V 12 12 missense 0.727 possibly damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077304,pubmed:25394175,ClinVar:RCV000129690 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358622 13q13.1 13 32316497 G T E * 13 13 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113040 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280111 13q13.1 13 32316499 A C E D 13 13 missense 0.0415 benign 0.135 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564529 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358622 13q13.1 13 32316497 G A E K 13 13 missense 0.6905 possibly damaging 0.01 deleterious, deleterious - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000543750 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1241704385 13q13.1 13 32316501 T A I N 14 14 missense 0.482 benign, probably damaging 0.015 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs886038198 13q13.1 13 32316500 A G I V 14 14 missense 0.3045 benign, possibly damaging 0.035 deleterious - low confidence, tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241177 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793592 13q13.1 13 32316503 T C F L 15 15 missense 0.9925 probably damaging 0.0 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660440 13q13.1 13 32316507 A G K R 16 16 missense 0.0435 benign 0.13 deleterious, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221506 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs386833396 13q13.1 13 32316510 C T T I 17 17 missense 0.5145 benign, probably damaging 0.045 deleterious - low confidence, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786201560 13q13.1 13 32316512 C T R C 18 18 missense 0.474 benign, probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662989,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000542286,pubmed:25394175,ClinVar:RCV000163880 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80358762 13q13.1 13 32316513 G A R H 18 18 3.99E-4 missense 0.4905 benign, possibly damaging 0.0 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358762 13q13.1 13 32316513 G A R H 18 18 missense 0.4905 benign, possibly damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000162817 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80358762 13q13.1 13 32316513 G C R P 18 18 3.99E-4 missense 0.854 possibly damaging, probably damaging 0.0 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1370260227 13q13.1 13 32316516 G T C F 19 19 missense 0.9975 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582172 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1370260227 13q13.1 13 32316516 G A C Y 19 19 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776986 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122544 13q13.1 13 32316519 A G N S 20 20 missense 0.0145 benign 0.5 deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076950,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690786,pubmed:25394175,ClinVar:RCV000574036 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507367 13q13.1 13 32316522 A G K R 21 21 missense 0.183 benign 0.075 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031614,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122923,pubmed:25394175,ClinVar:RCV000129552 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs774521832 13q13.1 13 32319077 A G D G 23 23 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772644 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507881 13q13.1 13 32316527 G A D N 23 23 missense 0.999 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000211034 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs774521832 13q13.1 13 32319077 A T D V 23 23 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217960 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507881 13q13.1 13 32316527 G T D Y 23 23 missense 0.999 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000258389 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507902 13q13.1 13 32319080 T G L * 24 24 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257036 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507902 13q13.1 13 32319080 T A L * 24 24 stop gained 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577511 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507909 13q13.1 13 32319081 A T L F 24 24 missense 0.744 possibly damaging 0.0 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577171 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358961 13q13.1 13 32319082 G T G * 25 25 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257648 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358961 13q13.1 13 32319082 G A G R 25 25 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:612555 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113091 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566215668 13q13.1 13 32319086 C T P L 26 26 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280333 13q13.1 13 32319090 A G I M 27 27 missense 0.675 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637691,pubmed:25394175,ClinVar:RCV000562416 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359034 13q13.1 13 32319088 A G I V 27 27 missense 0.009 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164869 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622464 13q13.1 13 32319091 A G S G 28 28 missense 0.991 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205144 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793060 13q13.1 13 32319092 G A S N 28 28 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571400 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401889 13q13.1 13 32319095 T G L R 29 29 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1424422846 13q13.1 13 32319094 C G L V 29 29 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575119 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1253463092 13q13.1 13 32319097 A G N D 30 30 missense 0.996 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1253463092 13q13.1 13 32319097 A C N H 30 30 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574736 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397508045 13q13.1 13 32319101 G A W * 31 31 stop gained 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241373,ClinVar:RCV000762913,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000762913,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000762913,ClinVar:RCV000762913,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045785,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000762913,ClinVar:RCV000762913,ClinVar:RCV000762913,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000762913 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359214 13q13.1 13 32319102 G A W * 31 31 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256653,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045810 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359214 13q13.1 13 32319102 G C W C 31 31 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529455,pubmed:25394175,ClinVar:RCV000164584 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359214 13q13.1 13 32319102 G T W C 31 31 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045811 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359182 13q13.1 13 32319100 T G W G 31 31 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568041 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397508045 13q13.1 13 32319101 G T W L 31 31 missense 0.998 probably damaging 0.0 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. ClinVar:RCV000677825,pubmed:25394175,ClinVar:RCV000573741,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240757 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359182 13q13.1 13 32319100 T C W R 31 31 missense 0.999 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113123 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508057 13q13.1 13 32319103 T C F L 32 32 missense 0.991 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:114480,MIM:612555 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662722,pubmed:25394175,ClinVar:RCV000132090 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280339 13q13.1 13 32319105 T G F L 32 32 missense 0.991 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:25394175,ClinVar:RCV000581478 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508065 13q13.1 13 32319106 G T E * 33 33 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256555 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358391 13q13.1 13 32319109 G T E * 34 34 stop gained 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113128,ClinVar:RCV000762914,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000043711,ClinVar:RCV000762914,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000762914,ClinVar:RCV000762914,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496610,pubmed:25394175,ClinVar:RCV000222288,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000762914,ClinVar:RCV000762914,ClinVar:RCV000762914,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000762914 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358391 13q13.1 13 32319109 G A E K 34 34 missense 0.996 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1446479156 COSM3468366 13q13.1 13 32319112 C T L F 35 35 missense 0.866 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709285 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs730881554 13q13.1 13 32319116 C T S F 36 36 missense 0.999 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510014 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs730881554 13q13.1 13 32319116 C A S Y 36 36 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040346 13q13.1 13 32319119 C G S * 37 37 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257520 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040346 13q13.1 13 32319119 C A S * 37 37 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257013 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661275 13q13.1 13 32319118 T G S A 37 37 missense 0.54 possibly damaging 0.17 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280344 13q13.1 13 32319121 G A E K 38 38 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:23188549,ClinVar:RCV000656470,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637464,pubmed:25394175,ClinVar:RCV000565634 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122724 13q13.1 13 32319125 C T A V 39 39 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077656,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545014,pubmed:25394175,ClinVar:RCV000130510 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs756971498 13q13.1 13 32319128 C T P L 40 40 missense 0.073 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358415 13q13.1 13 32319130 C G P A 41 41 missense 0.798 possibly damaging 0.05 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000536237 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786201716 13q13.1 13 32319131 C T P L 41 41 missense 0.092 benign 0.12 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000464038 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358415 13q13.1 13 32319130 C T P S 41 41 missense 0.926 probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113156,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043760,pubmed:25394175,ClinVar:RCV000167471 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040353 13q13.1 13 32319135 T A Y * 42 42 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257198 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs4987046 13q13.1 13 32319134 A G Y C 42 42 missense 0.003 benign 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000257910 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507581 13q13.1 13 32319142 G T E * 45 45 stop gained 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577322 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1216148236 13q13.1 13 32319146 C T P L 46 46 missense 0.824 possibly damaging 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637767 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358425 13q13.1 13 32319145 C T P S 46 46 missense 0.926 probably damaging 0.14 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164910 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280354 13q13.1 13 32319151 G A E K 48 48 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579736 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1478651557 13q13.1 13 32319152 A T E V 48 48 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,dbSNP,gnomAD rs80358435 13q13.1 13 32319154 G T E * 49 49 stop gained -1.0 unknown -1.0 unknown 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077257,ClinVar:RCV000515388,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000238910,ClinVar:RCV000515388,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000515388,ClinVar:RCV000515388,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167820,pubmed:25394175,ClinVar:RCV000131868,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000515388,ClinVar:RCV000515388,ClinVar:RCV000515388,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000515388 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs779648876 13q13.1 13 32319156 A C E D 49 49 missense 0.015 benign 0.3 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358435 13q13.1 13 32319154 G C E Q 49 49 missense 0.69 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825283 13q13.1 13 32319155 A T E V 49 49 missense 0.755 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082886,pubmed:25394175,ClinVar:RCV000219831 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566215788 13q13.1 13 32319160 G A E K 51 51 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000694928,pubmed:25394175,ClinVar:RCV000772617 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs749827015 13q13.1 13 32319164 A G H R 52 52 missense 0.367 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580561 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507595 13q13.1 13 32319167 A G K R 53 53 missense 0.996 probably damaging 0.12 tolerated 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577605 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358445 13q13.1 13 32319170 A C N T 54 54 missense 0.0 benign 1.0 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113203 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358450 13q13.1 13 32319173 A G N S 55 55 missense 0.007 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113209,pubmed:25394175,ClinVar:RCV000129076 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280362 13q13.1 13 32319172 A T N Y 55 55 missense 0.232 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582387 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1192851278 13q13.1 13 32319175 A G N D 56 56 missense 0.021 benign 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358454 13q13.1 13 32319176 A C N T 56 56 missense 0.0 benign 0.49 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000162996 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,TOPMed,dbSNP,gnomAD rs201523522 13q13.1 13 32319180 C G Y * 57 57 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241283,pubmed:25394175,ClinVar:RCV000509640 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,TOPMed,dbSNP,gnomAD rs201523522 13q13.1 13 32319180 C A Y * 57 57 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661867,pubmed:25394175,ClinVar:RCV000220700 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507603 13q13.1 13 32319181 G T E * 58 58 stop gained 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577083 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs397507603 COSM5575513 13q13.1 13 32319181 G A E K 58 58 missense 0.3285 benign, possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077663,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195636,pubmed:25394175,ClinVar:RCV000216277 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs56091799 13q13.1 13 32319184 C G P A 59 59 missense 0.671 possibly damaging 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167801 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795404 13q13.1 13 32319185 C G P R 59 59 missense 0.932 probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000791918 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs56091799 13q13.1 13 32319184 C A P T 59 59 missense 0.824 possibly damaging 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129316 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358463 13q13.1 13 32319188 A T N I 60 60 missense 0.754 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358463 13q13.1 13 32319188 A G N S 60 60 missense 0.017 benign 0.33 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203631 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280374 13q13.1 13 32319191 T C L P 61 61 missense 0.014 benign 0.25 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561382 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs771011731 13q13.1 13 32319190 C G L V 61 61 missense 0.014 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509799 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358480 13q13.1 13 32319198 A C K N 63 63 missense 0.998 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113249 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507615 13q13.1 13 32319200 C T T I 64 64 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:25394175,ClinVar:RCV000215512 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280376 13q13.1 13 32319199 A T T S 64 64 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637570 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566215861 13q13.1 13 32319203 C T P L 65 65 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587778128 13q13.1 13 32319202 C T P S 65 65 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507617 13q13.1 13 32319205 C T Q * 66 66 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000168531,pubmed:25394175,ClinVar:RCV000164594 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566215868 13q13.1 13 32319208 A G R G 67 67 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1239929428 13q13.1 13 32319209 G C R T 67 67 missense 0.997 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558572,pubmed:25394175,ClinVar:RCV000583446 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658614 13q13.1 13 32319214 C A P T 69 69 missense 0.571 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689076,pubmed:25394175,ClinVar:RCV000221923 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs376931156 13q13.1 13 32319218 C T S F 70 70 missense 0.003 benign 0.54 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1044419895 13q13.1 13 32319222 T A Y * 71 71 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs276174818 13q13.1 13 32319224 A T N I 72 72 missense 0.279 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000538498 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs276174818 13q13.1 13 32319224 A G N S 72 72 missense 0.117 benign 0.5 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562408 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280382 13q13.1 13 32319223 A T N Y 72 72 missense 0.001 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637784,pubmed:25394175,ClinVar:RCV000573692 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122741 13q13.1 13 32319226 C T Q * 73 73 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077678 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1342778078 13q13.1 13 32319227 A G Q R 73 73 missense 0.258 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897701 13q13.1 13 32319232 G C A P 75 75 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs80358498 13q13.1 13 32319236 C G S * 76 76 stop gained -1.0 unknown -1.0 unknown 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113296 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507622 13q13.1 13 32319235 T C S P 76 76 missense 0.999 probably damaging 0.0 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577116 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358500 13q13.1 13 32319238 A G T A 77 77 missense 0.997 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1003162870 13q13.1 13 32319239 C T T I 77 77 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122745 13q13.1 13 32319241 C T P S 78 78 missense 0.999 probably damaging 0.0 deleterious 0 T Lymphoblastic Leukemia/Lymphoma MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637740,pubmed:25394175,ClinVar:RCV000162666,ClinVar:RCV000761027 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358502 13q13.1 13 32319244 A G I V 79 79 missense 0.046 benign 0.42 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561580 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660626 13q13.1 13 32319247 A T I L 80 80 missense 0.99 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213421 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358505 13q13.1 13 32319249 A G I M 80 80 missense 0.999 probably damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113305,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043985,pubmed:25394175,ClinVar:RCV000130843 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280392 13q13.1 13 32319248 T C I T 80 80 missense 0.998 probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583205 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660626 13q13.1 13 32319247 A G I V 80 80 missense 0.99 probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223545 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358507 13q13.1 13 32319250 T A F I 81 81 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043988,pubmed:25394175,ClinVar:RCV000217504 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358507 13q13.1 13 32319250 T C F L 81 81 missense 0.994 probably damaging 0.0 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577219 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358507 13q13.1 13 32319250 T G F V 81 81 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000525981,pubmed:25394175,ClinVar:RCV000562958 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507628 13q13.1 13 32319253 A T K * 82 82 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257796,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496688 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040428 13q13.1 13 32319256 G T E * 83 83 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257861,pubmed:25394175,ClinVar:RCV000776210 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1442324599 13q13.1 13 32319258 G C E D 83 83 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280395 13q13.1 13 32319257 A G E G 83 83 missense 0.379 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580369 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040428 13q13.1 13 32319256 G C E Q 83 83 missense 0.661 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000819255,pubmed:25394175,ClinVar:RCV000583389 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358515 13q13.1 13 32319259 C T Q * 84 84 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077281,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195353,pubmed:25394175,ClinVar:RCV000564855 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358515 13q13.1 13 32319259 C G Q E 84 84 missense 0.161 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222485 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs572782576 13q13.1 13 32319266 T C L P 86 86 missense 0.006 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358525 13q13.1 13 32319272 T G L R 88 88 missense 0.999 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113332,pubmed:25394175,ClinVar:RCV000509986 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs748609599 13q13.1 13 32319275 C T P L 89 89 missense 0.73 possibly damaging 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460853,pubmed:25394175,ClinVar:RCV000509654 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs748609599 13q13.1 13 32319275 C A P Q 89 89 missense 0.907 possibly damaging 0.03 deleterious 0 Breast cancer, susceptibility to Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:23188549,ClinVar:RCV000656467 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280422 13q13.1 13 32319278 T C L P 90 90 missense 0.0 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs145988146 13q13.1 13 32319282 C G Y * 91 91 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257002 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs145988146 13q13.1 13 32319282 C A Y * 91 91 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241355 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs975508131 13q13.1 13 32319281 A G Y C 91 91 missense 0.919 probably damaging 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358529 13q13.1 13 32319283 C T Q * 92 92 stop gained 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031380,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496410,pubmed:25394175,ClinVar:RCV000215800,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240677 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566216040 13q13.1 13 32319284 A G Q R 92 92 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772464 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs776730435 13q13.1 13 32319286 T G S A 93 93 missense 0.061 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000803714,pubmed:25394175,ClinVar:RCV000562990 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs776730435 13q13.1 13 32319286 T C S P 93 93 missense 0.886 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509719 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80358531 13q13.1 13 32319289 C G P A 94 94 missense 0.998 probably damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs774152844 13q13.1 13 32319290 C A P H 94 94 missense 0.999 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358531 13q13.1 13 32319289 C T P S 94 94 missense 0.999 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566216059 13q13.1 13 32319292 G A V I 95 95 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000707604 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs397507646 COSM1366378 13q13.1 13 32319298 G T E * 97 97 stop gained -1.0 unknown -1.0 unknown 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083095,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709286,pubmed:25394175,ClinVar:RCV000166898 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224587 13q13.1 13 32319300 A T E D 97 97 missense 0.994 probably damaging 0.08 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198436 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1085308035 13q13.1 13 32319302 T G L * 98 98 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000490543 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658842 13q13.1 13 32319303 A T L F 98 98 missense 0.847 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216961 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358540 13q13.1 13 32319301 T A L I 98 98 missense 0.243 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569129 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358540 13q13.1 13 32319301 T G L V 98 98 missense 0.041 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113366,pubmed:25394175,ClinVar:RCV000773255 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622276 13q13.1 13 32319305 A G D G 99 99 missense 0.001 benign 0.63 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205206 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358546 13q13.1 13 32319307 A T K * 100 100 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113370,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044099 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358546 13q13.1 13 32319307 A G K E 100 100 missense 0.006 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000553398,pubmed:25394175,ClinVar:RCV000776723 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs397507301 13q13.1 13 32319312 C A F L 101 101 missense 0.058 benign 0.61 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031397,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000686166 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358549 13q13.1 13 32319314 A G K R 102 102 missense 0.0 benign 1.0 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113382 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358561 13q13.1 13 32319323 T G L * 105 105 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000735536,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077293,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496591,pubmed:25394175,ClinVar:RCV000219806 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786201916 13q13.1 13 32319325 G A G R 106 106 missense 1.0 probably damaging 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637554,pubmed:25394175,ClinVar:RCV000164444 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1172322930 13q13.1 13 32325079 G C R T 107 107 missense 0.007 benign 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358567 13q13.1 13 32325081 A C N H 108 108 missense 0.446 possibly damaging 0.05 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167803 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs772010158 13q13.1 13 32325083 T A N K 108 108 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774528 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358568 13q13.1 13 32325082 A G N S 108 108 missense 0.007 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:227650,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077298,pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000315720,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000375006,pubmed:25394175,ClinVar:RCV000166938 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358568 13q13.1 13 32325082 A C N T 108 108 missense 0.054 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221745 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1359975493 13q13.1 13 32325084 G A V I 109 109 missense 0.011 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280838 13q13.1 13 32325087 C A P T 110 110 missense 0.0 benign 0.44 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637426 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280839 13q13.1 13 32325090 A G N D 111 111 missense 0.0 benign 0.31 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000625753 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280840 13q13.1 13 32325091 A G N S 111 111 missense 0.001 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569068 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs773184912 13q13.1 13 32325094 G A S N 112 112 missense 0.003 benign 0.33 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000475941 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659161 13q13.1 13 32325097 G A R K 113 113 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637720,pubmed:25394175,ClinVar:RCV000215283 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587778129 13q13.1 13 32325099 C A H N 114 114 missense 0.382 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584140 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80358586 13q13.1 13 32325100 A C H P 114 114 missense 0.744 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358586 13q13.1 13 32325100 A G H R 114 114 missense 0.009 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113436,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044189,pubmed:25394175,ClinVar:RCV000568060 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587778129 13q13.1 13 32325099 C T H Y 114 114 missense 0.558 possibly damaging 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs56242644 13q13.1 13 32325102 A G K E 115 115 missense 0.342 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129695 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs766194968 13q13.1 13 32325109 T G L R 117 117 missense 0.0 benign 0.36 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs375125172 13q13.1 13 32325111 C T R C 118 118 missense 0.017 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129600 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358603 13q13.1 13 32325112 G A R H 118 118 missense 0.01 benign 0.56 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358603 13q13.1 13 32325112 G T R L 118 118 missense 0.372 benign 0.66 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000801645,pubmed:25394175,ClinVar:RCV000582064 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs375125172 13q13.1 13 32325111 C A R S 118 118 5.99E-4 missense 0.457 possibly damaging 0.42 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1218108009 13q13.1 13 32325123 A G T A 122 122 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774800 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658305 13q13.1 13 32325126 A G K E 123 123 missense 0.005 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222230 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566218165 13q13.1 13 32325128 A C K N 123 123 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507314 13q13.1 13 32325129 A C M L 124 124 missense 0.02 benign 0.77 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031435,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471655 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1450325987 13q13.1 13 32325130 T C M T 124 124 missense 0.164 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000527305 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358616 13q13.1 13 32325134 T A D E 125 125 missense 0.098 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132463 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1340506651 COSM469350 13q13.1 13 32325133 A G D G 125 125 missense 0.005 benign 0.23 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000541896 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555280859 13q13.1 13 32325135 C T Q * 126 126 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000781157 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280859 13q13.1 13 32325135 C G Q E 126 126 missense 0.371 benign, possibly damaging 0.015 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000544921 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs944205640 13q13.1 13 32325136 A G Q R 126 126 missense 0.042 benign 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358621 13q13.1 13 32325138 G T A S 127 127 missense 0.079 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580114 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358621 13q13.1 13 32325138 G A A T 127 127 missense 0.003 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166783 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358627 13q13.1 13 32325142 A G D G 128 128 missense 0.023 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113501,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044279,pubmed:25394175,ClinVar:RCV000131922 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1311319943 13q13.1 13 32325144 G T D Y 129 129 missense 0.959 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566218197 13q13.1 13 32325147 G A V I 130 130 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773561 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280862 13q13.1 13 32325150 T G S A 131 131 missense 0.0 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574777 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1378563251 13q13.1 13 32325151 C A S Y 131 131 missense 0.053 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507320 13q13.1 13 32325155 T A C * 132 132 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031450 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs752207703 13q13.1 13 32325153 T C C R 132 132 missense 0.098 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000538240 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs571823764 13q13.1 13 32325156 C T P S 133 133 missense 0.926 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000530938 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs571823764 13q13.1 13 32325156 C A P T 133 133 missense 0.9265 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164580 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1393801743 13q13.1 13 32325163 T A L Q 135 135 missense 0.974 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000544293,pubmed:25394175,ClinVar:RCV000510007 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795054 13q13.1 13 32325162 C G L V 135 135 missense 0.243 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280869 13q13.1 13 32325173 T A C * 138 138 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000538469 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507324 13q13.1 13 32325172 G T C F 138 138 missense 0.589 benign, possibly damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031463,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637505,pubmed:25394175,ClinVar:RCV000129991 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs397507324 13q13.1 13 32325172 G A C Y 138 138 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777381 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280870 13q13.1 13 32325174 C T L F 139 139 missense 0.036 benign 0.11 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637318 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358660 13q13.1 13 32325175 T C L P 139 139 missense 0.499 benign, probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113552,pubmed:25394175,ClinVar:RCV000216759 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80358660 13q13.1 13 32325175 T G L R 139 139 missense 0.945 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358662 13q13.1 13 32325177 A G S G 140 140 missense 0.991 probably damaging 0.03 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113556 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507713 13q13.1 13 32325184 G T S I 142 142 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709287,pubmed:25394175,ClinVar:RCV000213168 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs397507713 13q13.1 13 32325184 G A S N 142 142 missense 0.996 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507713 13q13.1 13 32325184 G A S N 142 142 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509645 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280873 13q13.1 13 32325183 A C S R 142 142 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637539 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP rs587782795 13q13.1 13 32326103 C G P R 143 143 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637494,pubmed:25394175,ClinVar:RCV000132345 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661259 13q13.1 13 32326105 G T V F 144 144 missense 0.122 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000815473,pubmed:25394175,ClinVar:RCV000772496 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661259 13q13.1 13 32326105 G A V I 144 144 missense 0.036 benign 0.19 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs539929888 13q13.1 13 32326112 T C L P 146 146 missense 0.5955 benign, probably damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000801053,pubmed:25394175,ClinVar:RCV000129309 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507717 13q13.1 13 32326114 C T Q * 147 147 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241305 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358676 13q13.1 13 32326116 A T Q H 147 147 missense 0.562 possibly damaging 0.04 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113598 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358676 13q13.1 13 32326116 A T Q H 147 147 missense 0.819 possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358674 13q13.1 13 32326115 A T Q L 147 147 missense 0.408 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031481,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000816691,pubmed:25394175,ClinVar:RCV000164577 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358674 13q13.1 13 32326115 A T Q L 147 147 missense 0.408 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358674 13q13.1 13 32326115 A G Q R 147 147 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358674 13q13.1 13 32326115 A G Q R 147 147 missense 0.014 benign 1.0 tolerated 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:612555,MIM:227650 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077324,pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000349768 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs80358677 13q13.1 13 32326117 T C C R 148 148 2.0E-4 missense 0.51 possibly damaging 0.38 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs80358677 13q13.1 13 32326117 T C C R 148 148 missense 0.51 possibly damaging 0.38 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs80358677 13q13.1 13 32326117 T A C S 148 148 2.0E-4 missense 0.382 benign 0.41 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs80358677 13q13.1 13 32326117 T A C S 148 148 2.0E-4 missense 0.382 benign 0.41 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1204909245 13q13.1 13 32326118 G A C Y 148 148 missense 0.009 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507722 13q13.1 13 32326124 A C H P 150 150 missense 0.439 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000560952 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507722 13q13.1 13 32326124 A G H R 150 150 missense 0.0 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663195,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044425,pubmed:25394175,ClinVar:RCV000130685 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs730881503 13q13.1 13 32326127 T C V A 151 151 missense 0.067 benign 0.16 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663051,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474713 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507335 13q13.1 13 32326126 G A V I 151 151 missense 0.013 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031489,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000685146,pubmed:25394175,ClinVar:RCV000561223 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs886037806 13q13.1 13 32326129 A G T A 152 152 missense 0.5325 benign, probably damaging 0.03 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637659,pubmed:25394175,ClinVar:RCV000777928,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240793 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358691 13q13.1 13 32326130 C A T K 152 152 missense 0.932 possibly damaging, probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113613 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs886037806 13q13.1 13 32326129 A T T S 152 152 missense 0.794 possibly damaging, probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580745 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401830 13q13.1 13 32326133 C T P L 153 153 missense 0.5955 benign, probably damaging 0.045 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496450 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280950 13q13.1 13 32326132 C T P S 153 153 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564823 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280950 13q13.1 13 32326132 C A P T 153 153 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000559177 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876661040 13q13.1 13 32326137 A T Q H 154 154 missense 0.913 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs756335278 13q13.1 13 32326136 A G Q R 154 154 missense 0.024 benign 0.04 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240758 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs377639990 COSM946760 13q13.1 13 32326139 G T R I 155 155 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000230247 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs377639990 13q13.1 13 32326139 G A R K 155 155 missense 0.991 probably damaging 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239453,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000461803 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1228857437 13q13.1 13 32326140 A T R S 155 155 missense 0.997 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs377639990 13q13.1 13 32326139 G C R T 155 155 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031497,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000199441,pubmed:25394175,ClinVar:RCV000582907 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs68071147 13q13.1 13 32326142 A C D A 156 156 missense 0.049 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000822964,pubmed:25394175,ClinVar:RCV000579915 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1197305103 13q13.1 13 32326143 T G D E 156 156 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1197305103 13q13.1 13 32326143 T A D E 156 156 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566159 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs68071147 13q13.1 13 32326142 A G D G 156 156 missense 0.049 benign 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077333 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs68071147 13q13.1 13 32326142 A T D V 156 156 missense 0.132 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000802102,pubmed:25394175,ClinVar:RCV000584146 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358701 13q13.1 13 32326148 C G S * 158 158 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566805 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358701 13q13.1 13 32326148 C A S * 158 158 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257460 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358701 13q13.1 13 32326148 C T S L 158 158 missense 0.015 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083109,pubmed:25394175,ClinVar:RCV000219972 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,gnomAD rs113114005 COSM3688677 13q13.1 13 32326147 T C S P 158 158 missense 0.003 benign 0.54 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs113114005 13q13.1 13 32326147 T A S T 158 158 missense 0.382 benign 0.5 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs81002884 13q13.1 13 32326242 T C V A 159 159 missense 0.516 benign, probably damaging 0.065 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs81002884 13q13.1 13 32326242 T A V E 159 159 missense 0.924 possibly damaging, probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113647 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358702 13q13.1 13 32326150 G C V L 159 159 missense 0.994 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358702 13q13.1 13 32326150 G A V M 159 159 missense 0.999 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218417 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed rs147022828 13q13.1 13 32326244 G A V I 160 160 missense 0.046 benign 0.42 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507745 13q13.1 13 32326249 T G C W 161 161 missense 0.98 probably damaging 0.0 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577789 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659740 13q13.1 13 32326248 G A C Y 161 161 missense 0.957 probably damaging 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216313 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280983 13q13.1 13 32326250 G C G R 162 162 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579676 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs767985386 13q13.1 13 32326253 A C S R 163 163 missense 0.895 possibly damaging 0.045 deleterious, tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663290 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs398122787 13q13.1 13 32326255 T G S R 163 163 missense 0.895 possibly damaging 0.045 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077735,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205650 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358717 13q13.1 13 32326257 T A L * 164 164 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113680 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786201450 13q13.1 13 32326259 T C F L 165 165 missense 0.5555 possibly damaging 0.05 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000163673 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs876658364 13q13.1 13 32326263 A T H L 166 166 missense 0.72 possibly damaging 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876658364 13q13.1 13 32326263 A T H L 166 166 missense 0.481 benign, possibly damaging 0.035 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238704 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358723 13q13.1 13 32326262 C T H Y 166 166 missense 0.4005 benign, possibly damaging 0.27 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113693 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358726 13q13.1 13 32326268 C G P A 168 168 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358726 13q13.1 13 32326268 C G P A 168 168 missense 0.998 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113705 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358726 13q13.1 13 32326268 C A P T 168 168 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358726 13q13.1 13 32326268 C A P T 168 168 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP rs41293467 13q13.1 13 32326271 A G K E 169 169 missense 0.3405 benign, possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP rs41293467 13q13.1 13 32326271 A C K Q 169 169 missense 0.067 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220796 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358730 13q13.1 13 32326272 A G K R 169 169 missense 0.013 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358730 13q13.1 13 32326272 A G K R 169 169 missense 0.013 benign 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044547 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1483012313 13q13.1 13 32326275 T C F S 170 170 missense 0.027 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555280998 13q13.1 13 32326274 T G F V 170 170 missense 0.164 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563342 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1201262482 13q13.1 13 32326277 G A V M 171 171 missense 0.013 benign 0.61 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566219017 13q13.1 13 32326280 A G K E 172 172 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775863 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359790 13q13.1 13 32326282 G T K N 172 172 missense 0.866 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509903 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825327 13q13.1 13 32326281 A G K R 172 172 missense 0.867 possibly damaging, probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082937,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689219,pubmed:25394175,ClinVar:RCV000571288 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507768 13q13.1 13 32326499 G T G C 173 173 missense 0.992 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239003,pubmed:25394175,ClinVar:RCV000220016 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs28897702 13q13.1 13 32326500 G A G D 173 173 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000532896 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507768 13q13.1 13 32326499 G C G R 173 173 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs28897702 13q13.1 13 32326500 G T G V 173 173 missense 0.989 probably damaging 0.025 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113738,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044598,pubmed:25394175,ClinVar:RCV000213680 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs41293469 13q13.1 13 32326502 C T R C 174 174 missense 0.335 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083113,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044608,pubmed:25394175,ClinVar:RCV000132017 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358747 13q13.1 13 32326503 G A R H 174 174 missense 0.0 benign 0.59 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358747 13q13.1 13 32326503 G A R H 174 174 missense 0.0 benign 0.59 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs750385844 13q13.1 13 32326505 C T Q * 175 175 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241116,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688623 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1214427273 13q13.1 13 32326508 A G T A 176 176 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000820800,pubmed:25394175,ClinVar:RCV000773008 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs779931795 13q13.1 13 32326518 A G H R 179 179 missense 0.056 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281048 13q13.1 13 32326520 A T I F 180 180 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000544076,pubmed:25394175,ClinVar:RCV000570587 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358761 13q13.1 13 32326521 T C I T 180 180 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083116,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044650,pubmed:25394175,ClinVar:RCV000132009 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281048 13q13.1 13 32326520 A G I V 180 180 missense 0.99 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529169 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281052 13q13.1 13 32326524 C T S F 181 181 missense 0.983 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637616 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs876660394 13q13.1 13 32326526 G T E * 182 182 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772570 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202685 13q13.1 13 32326527 A G E G 182 182 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000543715,pubmed:25394175,ClinVar:RCV000165620 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660394 13q13.1 13 32326526 G C E Q 182 182 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222220 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224593 13q13.1 13 32326530 G A S N 183 183 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000196253,pubmed:25394175,ClinVar:RCV000509682 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358775 13q13.1 13 32326533 T C L P 184 184 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031552 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs749053313 13q13.1 13 32326532 C G L V 184 184 missense 0.998 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs749053313 13q13.1 13 32326532 C G L V 184 184 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213207 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1217007370 13q13.1 13 32326538 G C A P 186 186 missense 0.97 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000817560,pubmed:25394175,ClinVar:RCV000584049 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1217007370 13q13.1 13 32326538 G A A T 186 186 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701736,pubmed:25394175,ClinVar:RCV000772977 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs754678843 13q13.1 13 32326543 G T E D 187 187 missense 0.995 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs754678843 13q13.1 13 32326543 G C E D 187 187 missense 0.995 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637757 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358780 13q13.1 13 32326541 G A E K 187 187 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113802,pubmed:25394175,ClinVar:RCV000167470 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1024574221 13q13.1 13 32326545 T G V G 188 188 missense 0.961 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281063 13q13.1 13 32326544 G A V M 188 188 missense 0.897 possibly damaging 0.02 deleterious 0 Retinoblastoma (RB1) Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. MIM:604370,MIM:180200 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000527957,pubmed:25394175,ClinVar:RCV000509982,pubmed:15604628,pubmed:20301625,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000761055 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507359 13q13.1 13 32326548 A G D G 189 189 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031567,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000542458,pubmed:25394175,ClinVar:RCV000567705 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555281067 13q13.1 13 32326547 G A D N 189 189 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706033 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281067 13q13.1 13 32326547 G T D Y 189 189 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531616,pubmed:25394175,ClinVar:RCV000570419 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs864622312 13q13.1 13 32326550 C G P A 190 190 missense 0.7855 possibly damaging, probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206460,pubmed:25394175,ClinVar:RCV000563174 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622238 13q13.1 13 32326551 C T P L 190 190 missense 0.9495 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204298 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs864622312 13q13.1 13 32326550 C T P S 190 190 missense 0.551 benign, probably damaging 0.165 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570665 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs398122540 13q13.1 13 32326555 T A D E 191 191 missense 0.998 probably damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs398122540 13q13.1 13 32326555 T A D E 191 191 missense 0.998 probably damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507798 13q13.1 13 32326554 A G D G 191 191 missense 0.999 probably damaging 0.0 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577576 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507798 13q13.1 13 32326554 A T D V 191 191 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000411982,pubmed:25394175,ClinVar:RCV000129294 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs397507798 13q13.1 13 32326554 A T D V 191 191 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs80358805 COSM3793243 13q13.1 13 32326557 T C M T 192 192 missense 0.988 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083120,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000074544,pubmed:25394175,ClinVar:RCV000219992 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281073 13q13.1 13 32326556 A G M V 192 192 missense 0.981 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637452 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622305 13q13.1 13 32326560 C T S F 193 193 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203969 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358810 13q13.1 13 32326564 G A W * 194 194 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031581,pubmed:25394175,ClinVar:RCV000562057 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358809 13q13.1 13 32326563 G A W * 194 194 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077362,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044763 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358809 13q13.1 13 32326563 G C W S 194 194 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471135 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038053 13q13.1 13 32326566 C G S * 195 195 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241261,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460181 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,dbSNP,gnomAD rs80358818 COSM946762 13q13.1 13 32326569 G T S I 196 196 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113840,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044783,pubmed:25394175,ClinVar:RCV000166163 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358818 13q13.1 13 32326569 G A S N 196 196 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077365,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044782,pubmed:25394175,ClinVar:RCV000510043 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358818 13q13.1 13 32326569 G C S T 196 196 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474653 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881505 13q13.1 13 32326571 T G S A 197 197 missense 0.994 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659940 13q13.1 13 32326572 C G S C 197 197 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000547022,pubmed:25394175,ClinVar:RCV000217488 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659940 13q13.1 13 32326572 C T S F 197 197 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581944 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs778528034 13q13.1 13 32326575 T C L S 198 198 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs376582345 13q13.1 13 32326577 G C A P 199 199 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467809,pubmed:25394175,ClinVar:RCV000566628 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs376582345 13q13.1 13 32326577 G A A T 199 199 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076946,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000228169,pubmed:25394175,ClinVar:RCV000132207 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853593 13q13.1 13 32326578 C T A V 199 199 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000232209 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs398122543 13q13.1 13 32326580 A G T A 200 200 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076949,pubmed:25394175,ClinVar:RCV000221268 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587781402 13q13.1 13 32326581 C T T I 200 200 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168233,pubmed:25394175,ClinVar:RCV000129253 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555281093 13q13.1 13 32326583 C G P A 201 201 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773964 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507822 13q13.1 13 32326584 C T P L 201 201 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507822 13q13.1 13 32326584 C G P R 201 201 missense 1.0 probably damaging 0.0 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577487 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281093 13q13.1 13 32326583 C T P S 201 201 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000560018 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793699 13q13.1 13 32326587 C T P L 202 202 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs786202001 13q13.1 13 32326586 C T P S 202 202 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164579 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122547 13q13.1 13 32326590 C A T N 203 203 missense 0.732 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076954,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471187,pubmed:25394175,ClinVar:RCV000509879 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs397507832 13q13.1 13 32326599 C G S C 206 206 missense 0.964 probably damaging 0.0 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577242 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507832 13q13.1 13 32326599 C A S Y 206 206 missense 0.964 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573526 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358858 13q13.1 13 32326601 A G T A 207 207 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113897,pubmed:25394175,ClinVar:RCV000167341 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs41293471 13q13.1 13 32326602 C T T I 207 207 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000461512,pubmed:25394175,ClinVar:RCV000165697 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358865 13q13.1 13 32326605 T G V G 208 208 missense 0.917 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113900,pubmed:25394175,ClinVar:RCV000166634 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281105 13q13.1 13 32326608 T A L H 209 209 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581126 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281106 13q13.1 13 32326610 A T I L 210 210 missense 0.084 benign 0.2 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000556959 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1422678843 13q13.1 13 32326611 T C I T 210 210 missense 0.967 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574368 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555281106 13q13.1 13 32326610 A G I V 210 210 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690118 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507843 13q13.1 13 32329443 T C V A 211 211 missense 0.084 benign 0.69 tolerated 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577752 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358871 13q13.1 13 32326613 G A V I 211 211 missense 0.5535 benign, possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000735584,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113917,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496306,pubmed:25394175,ClinVar:RCV000213157 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358871 13q13.1 13 32326613 G C V L 211 211 missense 0.4025 benign, possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562565 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203964 13q13.1 13 32329450 T A N K 213 213 missense 0.117 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167494 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs774539540 13q13.1 13 32329454 G T E * 215 215 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257497 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1198988757 13q13.1 13 32329455 A G E G 215 215 missense 0.745 possibly damaging, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs774539540 13q13.1 13 32329454 G A E K 215 215 missense 0.7035 benign, probably damaging 0.05 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358884 13q13.1 13 32329463 G T E * 218 218 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077377,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496596 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358891 13q13.1 13 32329474 T G F L 221 221 missense 0.076 benign 0.08 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031640 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs80358891 13q13.1 13 32329474 T G F L 221 221 missense 0.3885 benign, possibly damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281352 13q13.1 13 32329476 C T P L 222 222 missense 0.8965 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637762,pubmed:25394175,ClinVar:RCV000562378 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507873 13q13.1 13 32329475 C T P S 222 222 missense 0.8655 possibly damaging, probably damaging 0.01 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577474 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs761789188 13q13.1 13 32329479 A G H R 223 223 missense 0.03 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507878 13q13.1 13 32329482 A C D A 224 224 missense 0.506 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129338 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660484 13q13.1 13 32329481 G A D N 224 224 missense 0.035 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213360 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507878 13q13.1 13 32329482 A T D V 224 224 missense 0.944 probably damaging 0.0 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577470 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358897 13q13.1 13 32329484 A G T A 225 225 missense 0.02 benign 0.11 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114001 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281361 13q13.1 13 32329485 C T T I 225 225 missense 0.6555 possibly damaging 0.03 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579987 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358902 13q13.1 13 32329487 A G T A 226 226 missense 0.006 benign 0.06 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083130 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122563 13q13.1 13 32329490 G C A P 227 227 missense 0.391 benign, possibly damaging 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000533999 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122563 13q13.1 13 32329490 G A A T 227 227 missense 0.009 benign 0.39 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076972,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467633,pubmed:25394175,ClinVar:RCV000162816 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs149565664 13q13.1 13 32329491 C T A V 227 227 missense 0.009 benign 0.67 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459299 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122566 13q13.1 13 32330920 A T N I 228 228 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs749594501 13q13.1 13 32330922 G A V M 229 229 missense 0.145 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000540176,pubmed:25394175,ClinVar:RCV000222982 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs80358913 13q13.1 13 32330925 A T K * 230 230 stop gained -1.0 unknown -1.0 unknown 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031654,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496274,pubmed:25394175,ClinVar:RCV000221860 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1381490522 13q13.1 13 32330927 A T K N 230 230 missense 0.999 probably damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793498 13q13.1 13 32330929 G A S N 231 231 missense 0.017 benign 0.33 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1064793498 13q13.1 13 32330929 G C S T 231 231 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774995 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs372188754 COSM3688679 13q13.1 13 32330932 A G Y C 232 232 1.9999999494757503E-4 missense 0.003 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239053,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000200246 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs372188754 13q13.1 13 32330932 A G Y C 232 232 2.0E-4 missense 0.003 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122572 13q13.1 13 32330931 T C Y H 232 232 missense 0.2545 benign, possibly damaging 0.495 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076982,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637516,pubmed:25394175,ClinVar:RCV000129345 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs748339683 13q13.1 13 32330940 A G N D 235 235 missense 0.412 benign, possibly damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs587781484 13q13.1 13 32330942 T G N K 235 235 missense 0.386 benign, possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587781484 13q13.1 13 32330942 T G N K 235 235 missense 0.249 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000464180,pubmed:25394175,ClinVar:RCV000129444 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587780554 13q13.1 13 32330941 A G N S 235 235 missense 0.068 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000119221,pubmed:25394175,ClinVar:RCV000771465 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358938 13q13.1 13 32330944 A G H R 236 236 missense 0.5095 benign, probably damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114055,pubmed:25394175,ClinVar:RCV000566115 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1359997059 13q13.1 13 32330943 C T H Y 236 236 missense 0.505 benign, probably damaging 0.125 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881506 13q13.1 13 32330947 A G D G 237 237 missense 0.8365 possibly damaging, probably damaging 0.35 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637701,pubmed:25394175,ClinVar:RCV000222640 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122575 13q13.1 13 32330946 G A D N 237 237 missense 0.524 benign, probably damaging 0.51 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076987,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709294,pubmed:25394175,ClinVar:RCV000562449 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881506 13q13.1 13 32330947 A T D V 237 237 missense 0.992 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565774 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122575 13q13.1 13 32330946 G T D Y 237 237 missense 0.994 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580550 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs56383036 13q13.1 13 32330949 G T E * 238 238 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000162051 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs56383036 13q13.1 13 32330949 G T E * 238 238 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs56383036 13q13.1 13 32330949 G C E Q 238 238 missense 0.496 possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs56383036 13q13.1 13 32330949 G C E Q 238 238 missense 0.4075 benign, possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562386 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659100 13q13.1 13 32330958 A T K * 241 241 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000240982,pubmed:25394175,ClinVar:RCV000219810 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566221375 13q13.1 13 32330959 A G K R 241 241 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704260 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502473 13q13.1 13 32330968 A G D G 244 244 missense 0.329 benign 0.25 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457047 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358956 13q13.1 13 32330967 G A D N 244 244 missense 0.009 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114096,pubmed:25394175,ClinVar:RCV000130306 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358956 13q13.1 13 32330967 G T D Y 244 244 missense 0.354 benign, possibly damaging 0.045 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637657,pubmed:25394175,ClinVar:RCV000219920 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358959 13q13.1 13 32330970 A T R * 245 245 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114103 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358959 13q13.1 13 32330970 A G R G 245 245 missense 0.167 benign 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs375790538 13q13.1 13 32330972 A C R S 245 245 missense 0.028 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076994,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476618,pubmed:25394175,ClinVar:RCV000223222 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255462 13q13.1 13 32330971 G C R T 245 245 missense 0.173 benign 0.08 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239222 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs763881800 13q13.1 13 32330974 T A F Y 246 246 missense 0.228 benign 0.77 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs80358962 13q13.1 13 32330977 T C I T 247 247 missense 0.544 possibly damaging 0.33 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358962 13q13.1 13 32330977 T C I T 247 247 missense 0.544 possibly damaging 0.33 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045201 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1169190081 13q13.1 13 32330976 A G I V 247 247 missense 0.261 benign, possibly damaging 0.335 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564401 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174893 13q13.1 13 32330980 C G A G 248 248 missense 0.007 benign 0.04 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114119 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55854959 13q13.1 13 32330979 G A A T 248 248 2.0E-4 missense 0.007 benign 0.17 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs55854959 13q13.1 13 32330979 G A A T 248 248 1.9999999494757503E-4 missense 0.005 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195334,pubmed:25394175,ClinVar:RCV000131381 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587781513 13q13.1 13 32330989 C T T I 251 251 missense 0.007 benign 0.54 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637576 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587781513 13q13.1 13 32330989 C G T R 251 251 missense 0.003 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000458997,pubmed:25394175,ClinVar:RCV000129492 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793332 13q13.1 13 32330992 A G D G 252 252 missense 0.384 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs549269828 13q13.1 13 32330991 G A D N 252 252 missense 0.027 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000409025,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000694838,pubmed:25394175,ClinVar:RCV000132172 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281475 13q13.1 13 32331001 A G N S 255 255 missense 0.9295 possibly damaging, probably damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509829 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794265 13q13.1 13 32331004 C T T I 256 256 missense 0.42 benign, possibly damaging 0.085 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509824 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794265 13q13.1 13 32331004 C G T R 256 256 missense 0.167 benign 0.16 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637556 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782357 13q13.1 13 32331007 A C N T 257 257 missense 0.651 possibly damaging 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131305 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358998 13q13.1 13 32331009 C T Q * 258 258 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077409,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045296,pubmed:25394175,ClinVar:RCV000131846 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs749729890 13q13.1 13 32331010 A G Q R 258 258 missense 0.784 possibly damaging, probably damaging 0.02 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239182 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507937 13q13.1 13 32331012 A T R * 259 259 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661611 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566221533 13q13.1 13 32331013 G A R K 259 259 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000687735 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA rs80359677 13q13.1 13 32331012_32331013A G - E S 260 260 frameshift -1.0 unknown -1.0 unknown 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401831 13q13.1 13 32331018 G C A P 261 261 missense 0.8785 possibly damaging, probably damaging 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496918 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401831 13q13.1 13 32331018 G A A T 261 261 missense 0.4235 benign, possibly damaging 0.17 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581375 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507393 13q13.1 13 32331021 G C A P 262 262 missense 0.001 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776409 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507393 13q13.1 13 32331021 G A A T 262 262 missense 0.0 benign 0.62 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031703,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000230620,pubmed:25394175,ClinVar:RCV000216411 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659434 13q13.1 13 32331022 C T A V 262 262 missense 0.012 benign 0.32 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219899 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555281480 13q13.1 13 32331025 G A S N 263 263 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777577 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281480 13q13.1 13 32331025 G C S T 263 263 missense 0.147 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569559 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1450949342 13q13.1 13 32331027 C T H Y 264 264 missense 0.3975 benign, possibly damaging 0.135 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1403242422 13q13.1 13 32331030 G A G R 265 265 missense 0.167 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568539 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566222067 13q13.1 13 32332275 T G F C 266 266 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000791518,pubmed:25394175,ClinVar:RCV000773473 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs587782433 13q13.1 13 32332274 T C F L 266 266 missense 0.003 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782433 13q13.1 13 32332274 T C F L 266 266 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131491 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202796 13q13.1 13 32332277 G T G * 267 267 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241277,pubmed:25394175,ClinVar:RCV000165786 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359036 13q13.1 13 32332278 G A G E 267 267 missense 0.449 possibly damaging 0.93 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112833,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045386 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1217128211 13q13.1 13 32332283 A G T A 269 269 missense 0.075 benign 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174902 13q13.1 13 32332287 C G S * 270 270 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112846 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566222098 13q13.1 13 32332286 T G S A 270 270 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000699149 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174902 13q13.1 13 32332287 C T S L 270 270 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637717,pubmed:25394175,ClinVar:RCV000772854 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1247032180 13q13.1 13 32332290 G A G E 271 271 missense 0.054 benign 0.29 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706930 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1247032180 13q13.1 13 32332290 G A G E 271 271 missense 0.054 benign 0.29 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs786204274 13q13.1 13 32332289 G A G R 271 271 missense 0.4645 benign, possibly damaging 0.085 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218275 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs786204274 13q13.1 13 32332289 G A G R 271 271 missense 0.871 possibly damaging 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs398122598 13q13.1 13 32332292 A G N D 272 272 missense 0.502 benign, probably damaging 0.385 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077020,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529674,pubmed:25394175,ClinVar:RCV000774908 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359068 13q13.1 13 32332296 C G S * 273 273 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112854 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359068 13q13.1 13 32332296 C A S * 273 273 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239330,pubmed:25394175,ClinVar:RCV000219107 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359068 13q13.1 13 32332296 C T S L 273 273 missense 0.652 benign, probably damaging 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659899 13q13.1 13 32332298 T C F L 274 274 missense 0.5 benign, probably damaging 0.025 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219299 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566222119 13q13.1 13 32332300 T A F L 274 274 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775822 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs397507399 13q13.1 13 32332303 A T K N 275 275 missense 0.913 probably damaging 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs397507399 13q13.1 13 32332303 A T K N 275 275 missense 0.888 possibly damaging 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1485423178 13q13.1 13 32332304 G A V I 276 276 missense 0.375 benign 0.26 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs28897705 13q13.1 13 32332309 T G N K 277 277 missense 0.39 benign 0.01 deleterious 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000769681 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs28897705 13q13.1 13 32332309 T G N K 277 277 missense 0.39 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1419882645 13q13.1 13 32332308 A G N S 277 277 missense 0.023 benign 0.19 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659712 13q13.1 13 32332311 G T S I 278 278 missense 0.587 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220829 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825364 13q13.1 13 32332314 G T C F 279 279 missense 0.294 benign 0.65 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082987,pubmed:25394175,ClinVar:RCV000223335 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs587781421 13q13.1 13 32332315 C G C W 279 279 missense 0.788 possibly damaging 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206739,pubmed:25394175,ClinVar:RCV000129293 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs587781421 13q13.1 13 32332315 C G C W 279 279 missense 0.794 possibly damaging 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359085 13q13.1 13 32332316 A G K E 280 280 missense 0.373 benign, possibly damaging 0.415 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112857,pubmed:25394175,ClinVar:RCV000776393 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1306507591 13q13.1 13 32332317 A G K R 280 280 missense 0.3575 benign, possibly damaging 0.055 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281610 13q13.1 13 32332320 A G D G 281 281 missense 0.771 possibly damaging, probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561981 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80359088 COSM3671267 13q13.1 13 32332319 G C D H 281 281 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80359088 13q13.1 13 32332319 G C D H 281 281 2.0E-4 missense 0.937 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80359088 13q13.1 13 32332319 G A D N 281 281 missense 0.056 benign 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077438 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs774063092 13q13.1 13 32332323 A G H R 282 282 missense 0.003 benign 0.26 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs768605944 13q13.1 13 32332322 C T H Y 282 282 missense 0.001 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80359097 13q13.1 13 32332325 A T I F 283 283 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572027 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs80359097 13q13.1 13 32332325 A T I F 283 283 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs730881507 13q13.1 13 32332326 T G I S 283 283 missense 0.098 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs730881507 13q13.1 13 32332326 T C I T 283 283 missense 0.0 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80359097 13q13.1 13 32332325 A G I V 283 283 missense 0.014 benign 0.3 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045529 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs80359097 13q13.1 13 32332325 A G I V 283 283 missense 0.0 benign 0.39 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793865 13q13.1 13 32332329 G A G E 284 284 missense 0.011 benign 0.72 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1437563380 13q13.1 13 32332328 G A G R 284 284 missense 0.048 benign 0.55 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793865 13q13.1 13 32332329 G T G V 284 284 missense 0.011 benign 0.17 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000548029 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1389778857 13q13.1 13 32332333 G T K N 285 285 missense 0.013 benign 0.19 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1131692035 13q13.1 13 32332335 C G S * 286 286 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661899,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000494717 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359111 13q13.1 13 32332334 T C S P 286 286 missense 0.897 possibly damaging 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359111 13q13.1 13 32332334 T C S P 286 286 missense 0.456 benign, possibly damaging 0.15 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077446 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281614 13q13.1 13 32332339 G A M I 287 287 missense 0.001 benign 0.56 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568733 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1357866774 13q13.1 13 32332337 A G M V 287 287 missense 0.015 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1464889530 COSM946764 13q13.1 13 32332340 C T P S 288 288 missense 0.8725 possibly damaging, probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509810 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs766173 13q13.1 13 32332343 A G N D 289 289 missense 0.023 benign 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031759,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045592 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs766173 13q13.1 13 32332343 A G N D 289 289 0.07368 missense 0.023 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs766173 13q13.1 13 32332343 A C N H 289 289 0.07368 missense 0.861 possibly damaging 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs766173 13q13.1 13 32332343 A C N H 289 289 missense 0.876 possibly damaging 0.055 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:114480,MIM:227650,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112858,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000470594,pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000351416,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000393165,pubmed:25394175,ClinVar:RCV000130996 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781431 13q13.1 13 32332347 T G V G 290 290 missense 0.047 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000470406,pubmed:25394175,ClinVar:RCV000129323 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281616 13q13.1 13 32332346 G C V L 290 290 missense 0.012 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566222250 13q13.1 13 32332349 C G L V 291 291 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700985 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1308506534 13q13.1 13 32332356 A G D G 293 293 missense 0.595 benign, possibly damaging 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs397508009 13q13.1 13 32332358 G T E * 294 294 stop gained -1.0 unknown -1.0 unknown 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077453 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs753352530 13q13.1 13 32332359 A G E G 294 294 missense 0.497 benign, possibly damaging 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1254525537 13q13.1 13 32332361 G T V L 295 295 missense 0.599 benign, probably damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509721 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659359 13q13.1 13 32332366 T A Y * 296 296 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661841,pubmed:25394175,ClinVar:RCV000219527 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs45457795 13q13.1 13 32332365 A G Y C 296 296 missense 0.0 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045647,pubmed:25394175,ClinVar:RCV000129101 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs45457795 13q13.1 13 32332365 A G Y C 296 296 missense 0.0 benign 0.31 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1347459118 13q13.1 13 32332364 T C Y H 296 296 missense 0.0 benign 0.9 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255298 13q13.1 13 32332367 G T E * 297 297 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239093 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs765756715 13q13.1 13 32332368 A G E G 297 297 missense 0.8885 possibly damaging, probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772725 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs753067824 13q13.1 13 32332371 C T T I 298 298 missense 0.385 benign, possibly damaging 0.075 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000625270 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281625 13q13.1 13 32332377 T G V G 300 300 missense 0.003 benign 0.12 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637733 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853616 13q13.1 13 32332376 G A V I 300 300 missense 0.158 benign 0.4 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs730881508 13q13.1 13 32332380 A G D G 301 301 missense 0.05 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545109,pubmed:25394175,ClinVar:RCV000166054 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281626 13q13.1 13 32332379 G A D N 301 301 missense 0.4245 benign, possibly damaging 0.13 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691294 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359158 13q13.1 13 32332383 C T T I 302 302 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567016 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359158 13q13.1 13 32332383 C A T N 302 302 missense 0.736 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082999,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000197152,pubmed:25394175,ClinVar:RCV000564157 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359158 13q13.1 13 32332383 C G T S 302 302 missense 0.349 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112862,pubmed:25394175,ClinVar:RCV000773257 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1173494452 13q13.1 13 32332385 T C S P 303 303 missense 0.942 probably damaging 0.27 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs867323565 13q13.1 13 32332386 C A S Y 303 303 missense 0.733 possibly damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000537427 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359169 13q13.1 13 32332391 G T E * 305 305 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661408 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359169 13q13.1 13 32332391 G A E K 305 305 missense 0.997 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112863,pubmed:25394175,ClinVar:RCV000581009 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs781169306 13q13.1 13 32332394 G A D N 306 306 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038059 13q13.1 13 32332404 C G S * 309 309 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661476 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038059 13q13.1 13 32332404 C A S * 309 309 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241380 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs778907270 13q13.1 13 32332406 T G L V 310 310 missense 0.505 benign, possibly damaging 0.105 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460087,pubmed:25394175,ClinVar:RCV000219199 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs61754140 13q13.1 13 32332409 T G C G 311 311 missense 0.3655 benign, possibly damaging 0.085 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs61754140 13q13.1 13 32332409 T C C R 311 311 missense 0.521 benign, possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507428 13q13.1 13 32332416 C T S F 313 313 missense 0.506 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031821,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467684,pubmed:25394175,ClinVar:RCV000129312 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs79483201 13q13.1 13 32332421 T A C S 315 315 missense 0.137 benign 0.35 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130455 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281645 13q13.1 13 32332427 A G T A 317 317 missense 0.107 benign 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558233 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1341473353 13q13.1 13 32332428 C T T I 317 317 missense 0.531 benign, possibly damaging 0.115 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000535822 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508060 13q13.1 13 32332430 A T K * 318 318 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241210 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502491 13q13.1 13 32332433 A G N D 319 319 missense 0.541 benign, possibly damaging 0.085 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462690,pubmed:25394175,ClinVar:RCV000583105 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs55939572 13q13.1 13 32332434 A G N S 319 319 missense 0.159 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs55939572 13q13.1 13 32332434 A G N S 319 319 missense 0.159 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs55939572 13q13.1 13 32332434 A C N T 319 319 missense 0.544 possibly damaging 0.05 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203661 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1334767632 13q13.1 13 32332437 T C L P 320 320 missense 0.983 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637613 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359234 13q13.1 13 32332439 C T Q * 321 321 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112867,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496598,pubmed:25394175,ClinVar:RCV000217571 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs276174927 13q13.1 13 32332441 A C Q H 321 321 missense 0.911 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112868 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs276174927 13q13.1 13 32332441 A C Q H 321 321 missense 0.01 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs879255473 13q13.1 13 32332444 A C K N 322 322 missense 0.928 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238647,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000808300 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs11571640 13q13.1 13 32332442 A C K Q 322 322 missense 0.904 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs11571640 13q13.1 13 32332442 A C K Q 322 322 5.99E-4 missense 0.904 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122619 13q13.1 13 32332446 T G V G 323 323 missense 0.15 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077048,pubmed:25394175,ClinVar:RCV000509917 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566222487 13q13.1 13 32332445 G A V I 323 323 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709296 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507435 13q13.1 13 32332449 G A R K 324 324 missense 0.012 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129650 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507435 13q13.1 13 32332449 G C R T 324 324 missense 0.294 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031844,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457938,pubmed:25394175,ClinVar:RCV000130515 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1052441923 13q13.1 13 32332454 A G S G 326 326 missense 0.0 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000544927 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782691 13q13.1 13 32332455 G A S N 326 326 missense 0.156 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132125 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897706 13q13.1 13 32332456 C G S R 326 326 missense 0.299 benign 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637859 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897706 13q13.1 13 32332456 C A S R 326 326 missense 0.299 benign 0.09 tolerated 0 Breast cancer (BC) A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28897706 13q13.1 13 32332456 C G S R 326 326 2.0E-4 missense 0.299 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359242 13q13.1 13 32332457 A T K * 327 327 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257461 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359242 13q13.1 13 32332457 A G K E 327 327 missense 0.716 possibly damaging 0.09 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112869 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs751890878 13q13.1 13 32332459 G C K N 327 327 missense 0.486 benign, possibly damaging 0.07 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566222524 13q13.1 13 32332458 A C K T 327 327 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774002 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281666 13q13.1 13 32332464 G C R T 329 329 missense 0.5545 benign, probably damaging 0.065 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509620 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1409774185 13q13.1 13 32332466 A C K Q 330 330 missense 0.9215 possibly damaging, probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359253 13q13.1 13 32332470 A T K I 331 331 missense 0.918 possibly damaging, probably damaging 0.005 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112870,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045918 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502486 13q13.1 13 32332471 A C K N 331 331 missense 0.507 benign, probably damaging 0.47 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457199 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281682 13q13.1 13 32332473 T A I N 332 332 missense 0.49 benign, probably damaging 0.095 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000814918,pubmed:25394175,ClinVar:RCV000563072 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs781464949 13q13.1 13 32332476 T G F C 333 333 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777290 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs781464949 13q13.1 13 32332476 T C F S 333 333 missense 0.886 possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs544942885 13q13.1 13 32332480 T G H Q 334 334 missense 0.043 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239056,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000463547,pubmed:25394175,ClinVar:RCV000509997 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587782016 13q13.1 13 32332479 A G H R 334 334 missense 0.074 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000410354,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198970,pubmed:25394175,ClinVar:RCV000130442 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566222581 13q13.1 13 32332482 A G E G 335 335 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773844 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782100 13q13.1 13 32332484 G A A T 336 336 missense 0.007 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000410382,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000809632,pubmed:25394175,ClinVar:RCV000130613 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1373277359 13q13.1 13 32332491 C G A G 338 338 missense 0.053 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358396 13q13.1 13 32332490 G T A S 338 338 missense 0.0895 benign 0.095 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510077 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358396 13q13.1 13 32332490 G A A T 338 338 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112875,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043719,pubmed:25394175,ClinVar:RCV000509731 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281693 13q13.1 13 32332493 G A D N 339 339 missense 0.02 benign 0.49 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040339 13q13.1 13 32332501 T A C * 341 341 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257145 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358403 13q13.1 13 32332500 G T C F 341 341 missense 0.001 benign 0.68 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs55833327 13q13.1 13 32332499 T C C R 341 341 missense 0.233 benign, possibly damaging 0.335 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358403 13q13.1 13 32332500 G C C S 341 341 missense 0.19 benign 0.34 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213241 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358403 13q13.1 13 32332500 G A C Y 341 341 missense 0.001 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575372 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs80358403 13q13.1 13 32332500 G A C Y 341 341 missense 0.001 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358406 13q13.1 13 32332511 A G K E 345 345 missense 0.027 benign 0.55 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112877,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043733,pubmed:25394175,ClinVar:RCV000562927 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281704 13q13.1 13 32332512 A G K R 345 345 missense 0.4425 benign, possibly damaging 0.245 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567450 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202042 13q13.1 13 32332515 A T N I 346 346 missense 0.063 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164652 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs794726967 13q13.1 13 32332517 C T Q * 347 347 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs794726967 13q13.1 13 32332517 C A Q K 347 347 missense 0.228 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55800493 13q13.1 13 32332518 A C Q P 347 347 missense 0.735 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167323 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55800493 13q13.1 13 32332518 A G Q R 347 347 missense 0.013 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131469 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55800493 13q13.1 13 32332518 A G Q R 347 347 0.002396 missense 0.308 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782140 13q13.1 13 32332524 A C K T 349 349 missense 0.397 benign, possibly damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130696 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1003779807 13q13.1 13 32332529 A G K E 351 351 missense 0.876 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775857 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281710 13q13.1 13 32332530 A T K I 351 351 missense 0.5815 benign, probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637696 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs542343726 13q13.1 13 32332532 T C Y H 352 352 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167496 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs769368098 13q13.1 13 32332536 C A S * 353 353 stop gained -1.0 unknown -1.0 unknown 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257623 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs769368098 13q13.1 13 32332536 C G S * 353 353 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256739 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs769368098 13q13.1 13 32332536 C T S L 353 353 missense 0.104 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000771533 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1318579197 13q13.1 13 32332538 T C F L 354 354 missense 0.027 benign 0.25 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660796 13q13.1 13 32332545 C T S F 356 356 missense 0.467 benign, probably damaging 0.785 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218928 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs398122722 13q13.1 13 32332544 T A S T 356 356 missense 0.3895 benign, possibly damaging 0.41 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587781399 13q13.1 13 32332548 A C E A 357 357 missense 0.544 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000552536,pubmed:25394175,ClinVar:RCV000129245 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281727 13q13.1 13 32332550 G A V M 358 358 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571460 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281730 13q13.1 13 32332553 G A E K 359 359 missense 0.896 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776715 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782057 13q13.1 13 32332556 C G P A 360 360 missense 0.294 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689505,pubmed:25394175,ClinVar:RCV000130533 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs767708749 13q13.1 13 32332559 A G N D 361 361 missense 0.068 benign 0.25 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502495 13q13.1 13 32332560 A G N S 361 361 missense 0.001 benign 0.59 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000458230 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs561004600 13q13.1 13 32332563 A T D V 362 362 2.0E-4 missense 0.7995 possibly damaging, probably damaging 0.005 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502440 13q13.1 13 32332565 A G T A 363 363 missense 0.0445 benign 0.05 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000464652 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1177212740 13q13.1 13 32332568 G A D N 364 364 missense 0.888 possibly damaging 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs730881578 13q13.1 13 32332572 C T P L 365 365 missense 0.525 benign, probably damaging 0.085 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459920,pubmed:25394175,ClinVar:RCV000568907 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs886040345 13q13.1 13 32332575 T G L * 366 366 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257220 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs886040345 13q13.1 13 32332575 T C L S 366 366 missense 0.999 probably damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000824337,pubmed:25394175,ClinVar:RCV000775963 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs587779357 13q13.1 13 32332574 T G L V 366 366 missense 0.996 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587779357 13q13.1 13 32332574 T G L V 366 366 missense 0.998 probably damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000199073 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358407 13q13.1 13 32332581 C A S * 368 368 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112879,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043738,pubmed:25394175,ClinVar:RCV000222511 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358407 13q13.1 13 32332581 C G S * 368 368 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661666,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000590792 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281736 13q13.1 13 32332580 T C S P 368 368 missense 0.43 benign, possibly damaging 0.205 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561618 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659793 13q13.1 13 32332585 T G N K 369 369 missense 0.093 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215810 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876660966 13q13.1 13 32332584 A C N T 369 369 missense 0.442 benign, possibly damaging 0.07 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566186 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144848 13q13.1 13 32332592 A C N H 372 372 0.2494 missense 0.864 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144848 13q13.1 13 32332592 A C N H 372 372 missense 0.864 possibly damaging 0.06 tolerated 0 Ductal breast carcinoma ClinVar:RCV000207052 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144848 13q13.1 13 32332592 A C N H 372 372 0.2494 missense 0.4355 benign, possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658943 13q13.1 13 32332593 A G N S 372 372 missense 0.034 benign 0.5 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223387 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507572 13q13.1 13 32332595 C T Q * 373 373 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256631,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000585682 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358409 13q13.1 13 32332602 C T P L 375 375 missense 0.014 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219251 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358408 13q13.1 13 32332601 C T P S 375 375 0.0010000000474974513 missense 0.605 benign, possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083085,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195325,pubmed:25394175,ClinVar:RCV000162998 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80358408 13q13.1 13 32332601 C T P S 375 375 9.98E-4 missense 0.406 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358410 13q13.1 13 32332605 T G F C 376 376 missense 0.893 possibly damaging 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358410 13q13.1 13 32332605 T C F S 376 376 missense 0.023 benign 0.43 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476619,pubmed:25394175,ClinVar:RCV000775932 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs777845659 13q13.1 13 32332609 G C E D 377 377 missense 0.204 benign 0.42 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000560741,pubmed:25394175,ClinVar:RCV000166252 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658625 13q13.1 13 32332607 G A E K 377 377 missense 0.15 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545937,pubmed:25394175,ClinVar:RCV000222499 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658625 13q13.1 13 32332607 G C E Q 377 377 missense 0.351 benign 0.15 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000458440 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281748 13q13.1 13 32332612 T A S R 378 378 missense 0.443 benign, possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565338 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs757086356 13q13.1 13 32332614 G A G E 379 379 missense 0.003 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs746871759 13q13.1 13 32332613 G A G R 379 379 missense 0.4335 benign, possibly damaging 0.51 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs780798665 13q13.1 13 32332617 G C S T 380 380 missense 0.5055 benign, probably damaging 0.245 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,gnomAD rs769297468 13q13.1 13 32332620 A G D G 381 381 missense 0.4755 benign, probably damaging 0.205 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122723 13q13.1 13 32332619 G A D N 381 381 missense 0.3025 benign, possibly damaging 0.08 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077655,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204824 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825280 13q13.1 13 32332624 A T K N 382 382 missense 0.2475 benign, possibly damaging 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082882,pubmed:25394175,ClinVar:RCV000130529 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs371454630 13q13.1 13 32332622 A C K Q 382 382 missense 0.406 benign 0.13 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195524 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs371454630 13q13.1 13 32332622 A C K Q 382 382 missense 0.406 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1396595519 13q13.1 13 32332623 A G K R 382 382 missense 0.014 benign 0.45 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs41293475 13q13.1 13 32332629 C G S C 384 384 missense 0.61 benign, probably damaging 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs41293475 13q13.1 13 32332629 C G S C 384 384 missense 0.999 probably damaging 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs41293475 COSM5757636 13q13.1 13 32332629 C T S F 384 384 missense 0.977 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000162684 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs41293475 13q13.1 13 32332629 C T S F 384 384 missense 0.999 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358411 13q13.1 13 32332631 A T K * 385 385 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112887,pubmed:25394175,ClinVar:RCV000561185 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358411 13q13.1 13 32332631 A G K E 385 385 missense 0.015 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637741,pubmed:25394175,ClinVar:RCV000129633 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358411 13q13.1 13 32332631 A C K Q 385 385 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs373945846 13q13.1 13 32332638 T C V A 387 387 missense 0.027 benign 0.56 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000530126 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs373945846 13q13.1 13 32332638 T C V A 387 387 missense 0.027 benign 0.56 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs869320791 13q13.1 13 32332637 G T V F 387 387 missense 0.417 benign, possibly damaging 0.155 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000211000,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462241,pubmed:25394175,ClinVar:RCV000218227 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs373945846 13q13.1 13 32332638 T G V G 387 387 missense 0.487 possibly damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs869320791 13q13.1 13 32332637 G A V I 387 387 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777328 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876660239 13q13.1 13 32332640 G T V L 388 388 missense 0.006 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219735 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs876660239 13q13.1 13 32332640 G C V L 388 388 missense 0.006 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs397507263 13q13.1 13 32332644 C T P L 389 389 missense 0.006 benign 0.21 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000197166 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs397507263 13q13.1 13 32332644 C A P Q 389 389 missense 0.029 benign 0.35 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000677855 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs397507263 13q13.1 13 32332644 C A P Q 389 389 9.98E-4 missense 0.029 benign 0.35 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566222903 13q13.1 13 32332646 T C S P 390 390 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697319 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs532847894 13q13.1 13 32332651 G C L F 391 391 2.0E-4 missense 0.487 benign, possibly damaging 0.015 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs786201237 13q13.1 13 32332657 T A C * 393 393 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661588,pubmed:25394175,ClinVar:RCV000509613 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs786201237 13q13.1 13 32332657 T A C * 393 393 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs766690741 13q13.1 13 32332656 G A C Y 393 393 missense 0.0 benign 0.36 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507575 13q13.1 13 32332658 G T E * 394 394 stop gained 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000043751 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs56016241 13q13.1 13 32332659 A C E A 394 394 missense 0.407 benign, possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165113 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040347 13q13.1 13 32332662 G A W * 395 395 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257484,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496427 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs886039315 13q13.1 13 32332663 G A W * 395 395 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661416 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs886039315 13q13.1 13 32332663 G T W C 395 395 missense 0.45 benign, possibly damaging 0.045 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358412 13q13.1 13 32332661 T G W G 395 395 missense 0.431 benign 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112888 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281765 13q13.1 13 32332664 T A S T 396 396 missense 0.806 possibly damaging, probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637756 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs760815829 13q13.1 13 32332667 C T Q * 397 397 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:114480,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000240964,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000585716,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000227783 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281770 13q13.1 13 32332668 A G Q R 397 397 missense 0.487 possibly damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558698 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281772 13q13.1 13 32332674 C A T N 399 399 missense 0.062 benign 0.32 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564758 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1413065373 13q13.1 13 32332676 C T L F 400 400 missense 0.019 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507264 13q13.1 13 32332677 T C L P 400 400 missense 0.476 benign, possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031310,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229646,pubmed:25394175,ClinVar:RCV000571637 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358413 13q13.1 13 32332680 C A S * 401 401 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000587751 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358413 13q13.1 13 32332680 C G S * 401 401 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112891 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853556 13q13.1 13 32332682 G T G C 402 402 missense 0.971 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233622 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566223012 13q13.1 13 32332683 G A G D 402 402 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773538 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358414 13q13.1 13 32332689 A T N I 404 404 missense 0.61 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112892,pubmed:25394175,ClinVar:RCV000773258 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358414 13q13.1 13 32332689 A G N S 404 404 missense 0.012 benign 0.1 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472702,pubmed:25394175,ClinVar:RCV000571012,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240794 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1005568368 13q13.1 13 32332695 C G A G 406 406 missense 0.022 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565726 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs751535164 13q13.1 13 32332694 G A A T 406 406 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs781079248 13q13.1 13 32332697 C T Q * 407 407 stop gained 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000547485,pubmed:25394175,ClinVar:RCV000583844 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs781079248 13q13.1 13 32332697 C T Q * 407 407 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs781079248 13q13.1 13 32332697 C G Q E 407 407 missense 0.058 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs781079248 13q13.1 13 32332697 C G Q E 407 407 missense 0.058 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510003 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281779 13q13.1 13 32332699 G T Q H 407 407 missense 0.4975 benign, probably damaging 0.085 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569194 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057517562 13q13.1 13 32332701 T C M T 408 408 missense 0.015 benign 0.15 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000412475 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566223036 13q13.1 13 32332700 A G M V 408 408 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773547 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358416 13q13.1 13 32332703 G A E K 409 409 missense 0.041 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164321 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281782 13q13.1 13 32332707 A G K R 410 410 missense 0.007 benign 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000551134 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281784 13q13.1 13 32332711 A G I M 411 411 missense 0.07 benign 0.3 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637579 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP rs79597821 13q13.1 13 32332710 T C I T 411 411 missense 0.432 benign, possibly damaging 0.61 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129491 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659628 13q13.1 13 32332713 C T P L 412 412 missense 0.311 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223027 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281787 13q13.1 13 32332712 C T P S 412 412 missense 0.023 benign 0.42 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637474 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507576 13q13.1 13 32332719 T A L * 414 414 stop gained 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577820 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358417 13q13.1 13 32332722 A G H R 415 415 missense 0.549 possibly damaging 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043766 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs80358417 13q13.1 13 32332722 A G H R 415 415 missense 0.3875 benign, possibly damaging 0.205 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358418 13q13.1 13 32332725 T G I S 416 416 missense 0.023 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129196 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203710 13q13.1 13 32332724 A G I V 416 416 missense 0.007 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637526,pubmed:25394175,ClinVar:RCV000167130 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1335782281 13q13.1 13 32332728 C G S C 417 417 missense 0.9685 probably damaging 0.075 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507266 13q13.1 13 32332731 C G S * 418 418 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256683 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507266 13q13.1 13 32332731 C A S * 418 418 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031313 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876658829 13q13.1 13 32332733 T C C R 419 419 missense 0.682 possibly damaging 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214848 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786201654 13q13.1 13 32332737 A G D G 420 420 missense 0.5385 benign, possibly damaging 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662878,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000525169,pubmed:25394175,ClinVar:RCV000164047 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358419 13q13.1 13 32332739 C T Q * 421 421 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112900,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496684,pubmed:25394175,ClinVar:RCV000131850 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358419 13q13.1 13 32332739 C G Q E 421 421 missense 0.99 probably damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077657,pubmed:25394175,ClinVar:RCV000223427 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281798 13q13.1 13 32332740 A G Q R 421 421 missense 0.993 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572339 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782755 13q13.1 13 32332743 A C N T 422 422 missense 0.108 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132270 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281802 13q13.1 13 32332745 A G I V 423 423 missense 0.0 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509782 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566223138 13q13.1 13 32332749 C T S L 424 424 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774250 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768169574 13q13.1 13 32332752 A G E G 425 425 missense 0.034 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701503,pubmed:25394175,ClinVar:RCV000222738 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203512 13q13.1 13 32332751 G A E K 425 425 missense 0.067 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000705017,pubmed:25394175,ClinVar:RCV000166847 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1421854019 13q13.1 13 32332755 A C K T 426 426 missense 0.8435 possibly damaging, probably damaging 0.005 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637322,pubmed:25394175,ClinVar:RCV000568483 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs772430226 13q13.1 13 32332759 C G D E 427 427 missense 0.108 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509964 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281813 13q13.1 13 32332758 A G D G 427 427 missense 0.108 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579912 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP rs147797288 13q13.1 13 32332757 G C D H 427 427 missense 0.3965 benign, possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000699217,pubmed:25394175,ClinVar:RCV000130527 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs547590567 13q13.1 13 32332760 C A L I 428 428 missense 0.133 benign 0.18 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000765131,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765131,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765131,ClinVar:RCV000765131,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000816899,pubmed:25394175,ClinVar:RCV000167165,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765131,ClinVar:RCV000765131,ClinVar:RCV000765131,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765131 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs547590567 13q13.1 13 32332760 C G L V 428 428 missense 0.409 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000227331,pubmed:25394175,ClinVar:RCV000583967 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040356 13q13.1 13 32332764 T G L * 429 429 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257337,pubmed:25394175,ClinVar:RCV000580629 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281818 13q13.1 13 32332763 T A L I 429 429 missense 0.007 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000533427 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876660828 13q13.1 13 32332770 C T T I 431 431 missense 0.295 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome MIM:114480,MIM:604370 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000539167,pubmed:25394175,ClinVar:RCV000218910 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876660828 13q13.1 13 32332770 C A T K 431 431 missense 0.156 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510006 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs864622399 13q13.1 13 32332769 A C T P 431 431 missense 0.448 possibly damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204938 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1161226532 13q13.1 13 32332773 A C E A 432 432 missense 0.621 benign, possibly damaging 0.015 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs548313038 13q13.1 13 32332777 C A N K 433 433 2.0E-4 missense 0.0015 benign 0.925 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs548313038 13q13.1 13 32332777 C G N K 433 433 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777016 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs200552004 13q13.1 13 32332780 A C K N 434 434 missense 0.0 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs200552004 13q13.1 13 32332780 A C K N 434 434 missense 0.007 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs759780329 13q13.1 13 32332779 A G K R 434 434 missense 0.0 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122725 13q13.1 13 32332782 G A R K 435 435 missense 0.051 benign 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077658,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704661 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA rs80359277 COSM5951112 13q13.1 13 32332779_32332782AAA G - K I 437 437 frameshift -1.0 unknown -1.0 unknown 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs765436962 13q13.1 13 32332790 G T D Y 438 438 missense 0.5295 benign, possibly damaging 0.015 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281834 13q13.1 13 32332795 T A F L 439 439 missense 0.228 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562092 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281834 13q13.1 13 32332795 T G F L 439 439 missense 0.228 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358420 13q13.1 13 32332793 T G F V 439 439 missense 0.311 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112907,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043780,pubmed:25394175,ClinVar:RCV000162696 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793062 13q13.1 13 32332800 C T T I 441 441 missense 0.026 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1064793062 13q13.1 13 32332800 C A T N 441 441 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773894 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358421 13q13.1 13 32332803 C G S * 442 442 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241014,pubmed:25394175,ClinVar:RCV000579413 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358421 13q13.1 13 32332803 C A S * 442 442 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257449 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057518641 13q13.1 13 32332802 T G S A 442 442 missense 0.461 benign, possibly damaging 0.835 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000413424 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358421 13q13.1 13 32332803 C T S L 442 442 missense 0.4715 benign, probably damaging 0.345 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112909 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507579 13q13.1 13 32332805 G T E * 443 443 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000169567,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000238757 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,NCI-TCGA,dbSNP,gnomAD rs73169186 COSM3729094 13q13.1 13 32332807 G T E D 443 443 missense 0.5565 benign, probably damaging 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000161925,pubmed:25394175,ClinVar:RCV000509920 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507579 13q13.1 13 32332805 G A E K 443 443 missense 0.997 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580108 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660409 13q13.1 13 32332808 A C N H 444 444 missense 0.999 probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214764 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs786202373 COSM1366394 13q13.1 13 32332812 C A S Y 445 445 missense 0.929 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165146 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281845 13q13.1 13 32332815 T A L * 446 446 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661402 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587776459 13q13.1 13 32332818 C T P L 447 447 missense 0.351 benign, possibly damaging 0.08 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144180,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000795705,pubmed:25394175,ClinVar:RCV000509642 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281846 13q13.1 13 32332817 C T P S 447 447 missense 0.06 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509862 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358422 13q13.1 13 32332820 C T R C 448 448 missense 0.401 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077254,pubmed:25394175,ClinVar:RCV000165318 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358423 13q13.1 13 32332821 G A R H 448 448 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:25394175,ClinVar:RCV000130010 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs55955023 13q13.1 13 32332824 T C I T 449 449 missense 0.111 benign 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659037 13q13.1 13 32332827 C G S C 450 450 missense 0.999 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223063 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881510 13q13.1 13 32332829 A G S G 451 451 missense 0.157 benign 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782422 13q13.1 13 32332830 G A S N 451 451 missense 0.007 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474836,pubmed:25394175,ClinVar:RCV000131473 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358424 13q13.1 13 32332832 C A L I 452 452 missense 0.06 benign 0.19 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112911 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80358424 13q13.1 13 32332832 C A L I 452 452 missense 0.06 benign 0.19 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs753512842 13q13.1 13 32332833 T C L P 452 452 missense 0.872 possibly damaging 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000211025,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637781,pubmed:25394175,ClinVar:RCV000568425 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566223373 13q13.1 13 32332835 C G P A 453 453 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774061 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs754587041 13q13.1 13 32332836 C A P Q 453 453 missense 0.952 probably damaging 0.055 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC rs747592488 13q13.1 13 32332841 T A S T 455 455 missense 0.275 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs747489126 13q13.1 13 32332846 G C E D 456 456 missense 0.689 possibly damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs747489126 13q13.1 13 32332846 G C E D 456 456 missense 0.021 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs778142232 13q13.1 13 32332844 G A E K 456 456 missense 0.2565 benign, possibly damaging 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs771442299 13q13.1 13 32332848 A G K R 457 457 missense 0.691 possibly damaging 0.01 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000413908 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1415796889 13q13.1 13 32332850 C T P S 458 458 missense 0.371 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs587781799 13q13.1 13 32332854 T G L * 459 459 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257539,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496394 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs587781799 13q13.1 13 32332854 T G L * 459 459 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs587781799 13q13.1 13 32332854 T C L S 459 459 missense 0.034 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs587781799 13q13.1 13 32332854 T C L S 459 459 missense 0.034 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000231284,pubmed:25394175,ClinVar:RCV000130063 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358426 13q13.1 13 32332853 T G L V 459 459 missense 0.4525 benign, possibly damaging 0.115 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112915 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1270441968 13q13.1 13 32332856 A G N D 460 460 missense 0.652 possibly damaging 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1270441968 13q13.1 13 32332856 A C N H 460 460 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs777093572 13q13.1 13 32332857 A G N S 460 460 missense 0.384 benign 0.3 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772726 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs587782159 13q13.1 13 32332859 G T E * 461 461 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587782159 13q13.1 13 32332859 G T E * 461 461 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661624,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000506635 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566223455 13q13.1 13 32332860 A C E A 461 461 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773832 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587782159 13q13.1 13 32332859 G A E K 461 461 missense 0.474 possibly damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000410640,pubmed:25394175,ClinVar:RCV000130749 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56403624 13q13.1 13 32332863 A G E G 462 462 missense 0.013 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs56403624 13q13.1 13 32332863 A T E V 462 462 missense 0.545 possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56403624 13q13.1 13 32332863 A T E V 462 462 missense 0.931 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565999 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255302 13q13.1 13 32332865 A G T A 463 463 missense 0.108 benign 0.63 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239264 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs151011453 13q13.1 13 32332866 C T T I 463 463 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777160 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs151011453 13q13.1 13 32332866 C G T R 463 463 missense 0.005 benign 0.8 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637561 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1372510250 13q13.1 13 32332869 T C V A 464 464 missense 0.047 benign 0.17 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000532504 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs370692951 13q13.1 13 32332875 A G N S 466 466 missense 0.07 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165400 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1350502382 13q13.1 13 32332874 A T N Y 466 466 missense 0.4025 benign, possibly damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358427 13q13.1 13 32332877 A T K * 467 467 stop gained 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077256,ClinVar:RCV000762915,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000762915,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000762915,ClinVar:RCV000762915,pubmed:25394175,ClinVar:RCV000131059,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000762915,ClinVar:RCV000762915,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240776,ClinVar:RCV000762915,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000762915 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs276174808 13q13.1 13 32332879 G T K N 467 467 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772832 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174808 13q13.1 13 32332879 G C K N 467 467 missense 0.72 possibly damaging 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112917,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545323 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281893 13q13.1 13 32332878 A G K R 467 467 missense 0.111 benign 0.13 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000530420 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281894 13q13.1 13 32332880 A T R * 468 468 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000560122 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202940 13q13.1 13 32332881 G A R K 468 468 missense 0.005 benign 0.81 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637522,pubmed:25394175,ClinVar:RCV000166015 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122727 13q13.1 13 32332883 G C D H 469 469 missense 0.496 benign, probably damaging 0.175 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077660,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000820306 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs750341436 13q13.1 13 32332887 A C E A 470 470 missense 0.311 benign 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000757932 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs750341436 13q13.1 13 32332887 A C E A 470 470 missense 0.506 benign, possibly damaging 0.035 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281898 13q13.1 13 32332886 G A E K 470 470 missense 0.466 benign, possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570896 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358428 13q13.1 13 32332889 G T E * 471 471 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112919,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195351,pubmed:25394175,ClinVar:RCV000162910 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358429 13q13.1 13 32332892 C T Q * 472 472 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112920,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043802,pubmed:25394175,ClinVar:RCV000509751 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659746 13q13.1 13 32332894 G C Q H 472 472 missense 0.937 probably damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573947 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281903 13q13.1 13 32332893 A G Q R 472 472 missense 0.628 possibly damaging 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637543 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358430 13q13.1 13 32332896 A T H L 473 473 missense 0.1 benign 0.64 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112921,pubmed:25394175,ClinVar:RCV000569851 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825281 13q13.1 13 32332899 T C L P 474 474 missense 0.006 benign 0.17 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082884,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122899 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507587 13q13.1 13 32332901 G T E * 475 475 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661641 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1213277350 13q13.1 13 32332902 A G E G 475 475 missense 0.4715 benign, probably damaging 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358431 13q13.1 13 32332905 C G S C 476 476 missense 0.961 probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031320,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203653 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825282 13q13.1 13 32332911 C A T K 478 478 missense 0.0 benign 0.65 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082885,ClinVar:RCV000763880,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763880,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763880,ClinVar:RCV000763880,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000559197,pubmed:25394175,ClinVar:RCV000772727,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763880,ClinVar:RCV000763880,ClinVar:RCV000763880,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763880 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281910 13q13.1 13 32332914 A C D A 479 479 missense 0.6195 benign, probably damaging 0.005 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637335 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281911 13q13.1 13 32332918 C A C * 480 480 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507267 13q13.1 13 32332916 T C C R 480 480 missense 0.0 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031321,pubmed:25394175,ClinVar:RCV000164042 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782648 13q13.1 13 32332917 G A C Y 480 480 missense 0.0 benign 0.52 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637628,pubmed:25394175,ClinVar:RCV000132056 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs760559435 13q13.1 13 32332919 A G I V 481 481 missense 0.023 benign 0.57 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566955 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587776460 13q13.1 13 32332922 C T L F 482 482 missense 0.3545 benign, possibly damaging 0.15 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144181,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000817727 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP,gnomAD rs80358432 13q13.1 13 32332925 G C A P 483 483 missense 0.006 benign 0.13 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112923 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358432 13q13.1 13 32332925 G T A S 483 483 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772721 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP,gnomAD rs80358432 13q13.1 13 32332925 G A A T 483 483 missense 0.506 possibly damaging 0.25 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112922,pubmed:25394175,ClinVar:RCV000509786 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,gnomAD rs80358432 13q13.1 13 32332925 G A A T 483 483 2.0E-4 missense 0.406 benign, possibly damaging 0.255 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs766195792 13q13.1 13 32332926 C T A V 483 483 missense 0.022 benign 0.39 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566223599 13q13.1 13 32332931 A G K E 485 485 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706447 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358434 13q13.1 13 32332934 C T Q * 486 486 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112924,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496375,pubmed:25394175,ClinVar:RCV000219957 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs757735681 13q13.1 13 32332935 A C Q P 486 486 missense 0.006 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000799407,pubmed:25394175,ClinVar:RCV000564559 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs757735681 13q13.1 13 32332935 A G Q R 486 486 missense 0.297 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221979 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56390402 13q13.1 13 32332938 C A A E 487 487 missense 0.933 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131573 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs56390402 13q13.1 13 32332938 C A A E 487 487 missense 0.647 benign, probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281914 13q13.1 13 32332937 G T A S 487 487 missense 0.4395 benign, possibly damaging 0.265 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs56390402 13q13.1 13 32332938 C T A V 487 487 missense 0.672 possibly damaging 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs56390402 13q13.1 13 32332938 C T A V 487 487 missense 0.3415 benign, possibly damaging 0.245 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs864622352 13q13.1 13 32332940 A C I L 488 488 missense 0.026 benign 0.32 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206357 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs571155346 13q13.1 13 32332942 A G I M 488 488 2.0E-4 missense 0.1 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358436 13q13.1 13 32332941 T G I R 488 488 missense 0.132 benign 0.35 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112925,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043813 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs864622352 13q13.1 13 32332940 A G I V 488 488 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572755 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782535 13q13.1 13 32332944 C G S C 489 489 missense 0.4415 benign, possibly damaging 0.015 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198082,pubmed:25394175,ClinVar:RCV000131739 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566223650 13q13.1 13 32332949 A G T A 491 491 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709298 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs397507268 13q13.1 13 32332950 C G T S 491 491 missense 0.01 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637774,pubmed:25394175,ClinVar:RCV000566123 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs397507268 13q13.1 13 32332950 C G T S 491 491 missense 0.281 benign 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs757856761 13q13.1 13 32332952 T A S T 492 492 missense 0.208 benign 0.34 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs786202916 13q13.1 13 32332956 C T P L 493 493 missense 0.0 benign 0.86 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs786202205 COSM4047056 13q13.1 13 32332959 T C V A 494 494 missense 0.1 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164909 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281919 13q13.1 13 32332958 G A V M 494 494 missense 0.003 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome ClinVar:RCV000770712,pubmed:25394175,ClinVar:RCV000509708 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358437 13q13.1 13 32332961 G C A P 495 495 missense 0.628 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112926,pubmed:25394175,ClinVar:RCV000571207 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358437 13q13.1 13 32332961 G A A T 495 495 missense 0.2315 benign, possibly damaging 0.275 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043814,pubmed:25394175,ClinVar:RCV000130135,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000414054 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507269 13q13.1 13 32332965 C T S F 496 496 missense 0.8935 possibly damaging, probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031324,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205000,pubmed:25394175,ClinVar:RCV000772728 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1412942680 13q13.1 13 32332964 T A S T 496 496 missense 0.547 possibly damaging 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794018 13q13.1 13 32332968 C G S * 497 497 stop gained 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637545,pubmed:25394175,ClinVar:RCV000774812 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794018 13q13.1 13 32332968 C T S L 497 497 missense 0.003 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773057 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs900882465 13q13.1 13 32332972 T G F L 498 498 missense 0.05 benign 0.9 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566223700 COSM696751 13q13.1 13 32332973 C T Q * 499 499 stop gained -1.0 unknown -1.0 unknown 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709299 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507590 13q13.1 13 32332974 A G Q R 499 499 missense 0.493 possibly damaging 0.01 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577723 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1233016217 13q13.1 13 32332976 G C G R 500 500 missense 0.9215 possibly damaging, probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000549168 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1233016217 13q13.1 13 32332976 G A G S 500 500 missense 0.221 benign 0.41 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795525 13q13.1 13 32332977 G T G V 500 500 missense 0.9215 possibly damaging, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281924 13q13.1 13 32332979 A G I V 501 501 missense 0.019 benign 0.53 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs276174809 13q13.1 13 32332982 A G K E 502 502 missense 0.716 possibly damaging 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000527560 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs276174809 13q13.1 13 32332982 A C K Q 502 502 missense 0.888 possibly damaging 0.08 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112928 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281928 13q13.1 13 32332987 G C K N 503 503 missense 0.856 possibly damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566446 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs886037807 13q13.1 13 32332989 C G S C 504 504 missense 0.935 probably damaging 0.07 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240730 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786203006 13q13.1 13 32332988 T C S P 504 504 missense 0.034 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166120 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786203006 13q13.1 13 32332988 T A S T 504 504 missense 0.697 possibly damaging 0.22 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000793608,pubmed:25394175,ClinVar:RCV000564138 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897708 13q13.1 13 32332992 T C I T 505 505 missense 0.6055 benign, probably damaging 0.125 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:604370 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043820 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs397507270 13q13.1 13 32332991 A G I V 505 505 missense 0.701 possibly damaging 0.52 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507270 13q13.1 13 32332991 A G I V 505 505 missense 0.356 benign, possibly damaging 0.485 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472368 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1438502006 13q13.1 13 32332996 C G F L 506 506 missense 0.508 benign, probably damaging 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1249900164 13q13.1 13 32332995 T C F S 506 506 missense 0.913 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637551 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1249900164 13q13.1 13 32332995 T A F Y 506 506 missense 0.936 possibly damaging, probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs80358438 COSM946768 13q13.1 13 32333006 G T E * 510 510 stop gained -1.0 unknown -1.0 unknown 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 ClinVar:RCV000735525,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112930 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281935 13q13.1 13 32333010 C A S * 511 511 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661702,pubmed:25394175,ClinVar:RCV000510105 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1184226464 13q13.1 13 32333013 C T P L 512 512 missense 0.2885 benign, possibly damaging 0.385 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582228 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1184226464 13q13.1 13 32333013 C G P R 512 512 missense 0.6185 possibly damaging 0.04 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281938 13q13.1 13 32333015 A G K E 513 513 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000542434,pubmed:25394175,ClinVar:RCV000776771 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs28897709 13q13.1 13 32333016 A G K R 513 513 missense 0.009 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215079 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs749469486 13q13.1 13 32333021 A G T A 515 515 missense 0.277 benign, possibly damaging 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000548268,pubmed:25394175,ClinVar:RCV000166164 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202142 13q13.1 13 32333022 C T T I 515 515 missense 0.472 benign, probably damaging 0.06 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164808 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768641298 13q13.1 13 32333025 T C F S 516 516 missense 0.003 benign 0.42 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000541562 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768641298 13q13.1 13 32333025 T A F Y 516 516 missense 0.332 benign 0.59 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571171 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80358439 13q13.1 13 32333028 A T N I 517 517 missense 0.165 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358439 13q13.1 13 32333028 A T N I 517 517 missense 0.054 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573079 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs760647691 13q13.1 13 32333029 T A N K 517 517 missense 0.046 benign 0.33 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637356 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs760647691 13q13.1 13 32333029 T G N K 517 517 missense 0.046 benign 0.33 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,gnomAD rs80358439 COSM4420319 13q13.1 13 32333028 A G N S 517 517 missense 0.0 benign 0.92 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358439 13q13.1 13 32333028 A G N S 517 517 missense 0.0 benign 0.87 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031326,pubmed:25394175,ClinVar:RCV000129057 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358440 13q13.1 13 32333030 G C A P 518 518 missense 0.628 possibly damaging 0.02 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112934 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281950 13q13.1 13 32333033 A G S G 519 519 missense 0.046 benign 0.35 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000555286,pubmed:25394175,ClinVar:RCV000580014 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358441 13q13.1 13 32333036 T G F V 520 520 missense 0.766 possibly damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112935 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622689 13q13.1 13 32333039 T C S P 521 521 missense 0.469 benign, possibly damaging 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204596 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358442 13q13.1 13 32333042 G C G R 522 522 missense 0.618 benign, probably damaging 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165147 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358443 13q13.1 13 32333046 A T H L 523 523 missense 0.003 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358443 13q13.1 13 32333046 A T H L 523 523 missense 0.007 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112936,pubmed:25394175,ClinVar:RCV000575869 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358443 13q13.1 13 32333046 A G H R 523 523 missense 0.066 benign 0.09 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240762 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566223875 13q13.1 13 32333048 A G M V 524 524 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772465 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507271 13q13.1 13 32333052 C T T I 525 525 missense 0.009 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031328,pubmed:25394175,ClinVar:RCV000219292 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507271 13q13.1 13 32333052 C G T S 525 525 missense 0.009 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239200,pubmed:25394175,ClinVar:RCV000509790 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358444 13q13.1 13 32333051 A T T S 525 525 missense 0.009 benign 0.1 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112937 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1346717702 13q13.1 13 32333055 A G D G 526 526 missense 0.121 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1274827989 13q13.1 13 32333054 G C D H 526 526 missense 0.66 possibly damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs758025325 13q13.1 13 32333057 C T P S 527 527 missense 0.034 benign 0.48 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502393 13q13.1 13 32333061 A G N S 528 528 missense 0.4925 benign, possibly damaging 0.205 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000464630,pubmed:25394175,ClinVar:RCV000570319 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566223912 13q13.1 13 32333064 T A F Y 529 529 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776408 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255325 13q13.1 13 32333066 A T K * 530 530 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661871,pubmed:25394175,ClinVar:RCV000584727 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255325 13q13.1 13 32333066 A G K E 530 530 missense 0.877 possibly damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637813 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659050 13q13.1 13 32333069 A G K E 531 531 missense 0.0 benign 1.0 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000815686,pubmed:25394175,ClinVar:RCV000221304,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240715 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs876658771 13q13.1 13 32333070 A G K R 531 531 missense 0.242 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876658771 13q13.1 13 32333070 A C K T 531 531 missense 0.3175 benign, possibly damaging 0.125 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214061 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs138734772 13q13.1 13 32333072 G T E * 532 532 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257686 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,gnomAD rs138734772 13q13.1 13 32333072 G T E * 532 532 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,NCI-TCGA,dbSNP,gnomAD rs138734772 13q13.1 13 32333072 G A E K 532 532 missense 0.057 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000210974,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000804265 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,gnomAD rs138734772 13q13.1 13 32333072 G A E K 532 532 missense 0.057 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,gnomAD rs138734772 13q13.1 13 32333072 G C E Q 532 532 missense 0.628 possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs138734772 13q13.1 13 32333072 G C E Q 532 532 missense 0.4765 benign, possibly damaging 0.015 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637607 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281980 13q13.1 13 32333075 A G T A 533 533 missense 0.001 benign 0.26 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000554344 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs781763239 13q13.1 13 32333076 C T T I 533 533 missense 0.3515 benign, possibly damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662361,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000804094,pubmed:25394175,ClinVar:RCV000166855 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs276174810 13q13.1 13 32333078 G A E K 534 534 missense 0.076 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031330,pubmed:25394175,ClinVar:RCV000131321 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs536218070 13q13.1 13 32333081 G T A S 535 535 2.0E-4 missense 0.306 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1227088794 13q13.1 13 32333084 T A S T 536 536 missense 0.4795 benign, possibly damaging 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs994146384 13q13.1 13 32333091 G T S I 538 538 missense 0.4615 benign, possibly damaging 0.055 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs994146384 13q13.1 13 32333091 G A S N 538 538 missense 0.772 possibly damaging, probably damaging 0.265 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580001 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659513 13q13.1 13 32333093 G A G R 539 539 missense 0.014 benign 0.47 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221828 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281985 13q13.1 13 32333094 G T G V 539 539 missense 0.2905 benign, possibly damaging 0.155 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes rs554273481 13q13.1 13 32333096 C G L V 540 540 2.0E-4 missense 0.738 possibly damaging 0.055 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040378 13q13.1 13 32333099 G T E * 541 541 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257630 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507273 13q13.1 13 32333103 T C I T 542 542 missense 0.3325 benign, possibly damaging 0.56 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031331,pubmed:25394175,ClinVar:RCV000222475 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881511 13q13.1 13 32333102 A G I V 542 542 missense 0.216 benign 0.34 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000819175,pubmed:25394175,ClinVar:RCV000214296 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358446 13q13.1 13 32333105 C A H N 543 543 missense 0.45 possibly damaging 0.25 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281992 13q13.1 13 32333106 A G H R 543 543 missense 0.015 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691387,pubmed:25394175,ClinVar:RCV000570456 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358446 13q13.1 13 32333105 C T H Y 543 543 missense 0.003 benign 0.61 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166042 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358447 13q13.1 13 32333108 A G T A 544 544 missense 0.01 benign 0.49 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562189 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358448 13q13.1 13 32333109 C T T I 544 544 missense 0.725 possibly damaging 0.13 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043847 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358449 13q13.1 13 32333118 C T S L 547 547 missense 0.997 probably damaging 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112946,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043850 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122729 13q13.1 13 32333120 C T Q * 548 548 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077662,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000823651,pubmed:25394175,ClinVar:RCV000130404 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281997 13q13.1 13 32333123 A G K E 549 549 missense 0.803 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000532792,pubmed:25394175,ClinVar:RCV000567989 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203702 13q13.1 13 32333124 A G K R 549 549 missense 0.125 benign 0.34 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167122 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555281999 13q13.1 13 32333126 G T E * 550 550 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000590498 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282001 13q13.1 13 32333130 A G D G 551 551 missense 0.054 benign 0.52 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509898 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660500 13q13.1 13 32333129 G A D N 551 551 missense 0.459 benign, possibly damaging 0.39 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223039 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1339661429 13q13.1 13 32333132 T A S T 552 552 missense 0.027 benign 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566224045 13q13.1 13 32333133 C A S Y 552 552 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777355 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659627 13q13.1 13 32333136 T G L * 553 553 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000507637,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496621 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs876659627 13q13.1 13 32333136 T G L * 553 553 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs876659627 13q13.1 13 32333136 T C L S 553 553 missense 0.819 possibly damaging 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659627 13q13.1 13 32333136 T C L S 553 553 missense 0.872 possibly damaging, probably damaging 0.075 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000228265,pubmed:25394175,ClinVar:RCV000218747 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs748215651 COSM6074241 13q13.1 13 32333139 G T C F 554 554 missense 0.3285 benign, possibly damaging 0.035 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202149 13q13.1 13 32333138 T G C G 554 554 missense 0.642 benign, probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164818 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80358451 13q13.1 13 32333140 T G C W 554 554 missense 0.9205 possibly damaging, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358451 13q13.1 13 32333140 T G C W 554 554 missense 0.986 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs748215651 13q13.1 13 32333139 G A C Y 554 554 missense 0.9 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000810961,pubmed:25394175,ClinVar:RCV000772730 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566224075 COSM3468376 13q13.1 13 32333142 C T P L 555 555 missense 0.004 benign 0.34 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772627 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660590 13q13.1 13 32333141 C A P T 555 555 missense 0.387 benign, possibly damaging 0.46 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223032 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587781794 13q13.1 13 32333144 A G N D 556 556 missense 0.0 benign 0.25 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000543145 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs776558472 13q13.1 13 32333146 T A N K 556 556 missense 0.075 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358452 13q13.1 13 32333148 T G L * 557 557 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112952,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496933,pubmed:25394175,ClinVar:RCV000217402 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786202150 13q13.1 13 32333147 T A L I 557 557 missense 0.001 benign 0.3 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164819 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs759415233 13q13.1 13 32333150 A G I V 558 558 missense 0.003 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282012 13q13.1 13 32333153 G A D N 559 559 missense 0.063 benign 0.08 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000605045 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358453 13q13.1 13 32333156 A G N D 560 560 missense 0.009 benign 0.17 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112958 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358455 13q13.1 13 32333159 G T G * 561 561 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112959 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358455 13q13.1 13 32333159 G C G R 561 561 missense 0.031 benign 0.18 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000692840 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358456 13q13.1 13 32333167 G A W * 563 563 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112960,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043863,pubmed:25394175,ClinVar:RCV000581281 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80358456 13q13.1 13 32333167 G C W C 563 563 missense 0.454 benign, possibly damaging 0.385 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs775321015 13q13.1 13 32333169 C T P L 564 564 missense 0.4795 benign, probably damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs55821741 13q13.1 13 32333172 C T A V 565 565 missense 0.199 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000199884,pubmed:25394175,ClinVar:RCV000509822 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs762559804 13q13.1 13 32333175 C G T S 566 566 missense 0.007 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1427959929 13q13.1 13 32333177 A G T A 567 567 missense 0.022 benign 0.37 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782139 13q13.1 13 32333178 C T T I 567 567 missense 0.0 benign 0.8 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130692 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507274 13q13.1 13 32333183 C A Q K 569 569 missense 0.104 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000470503,pubmed:25394175,ClinVar:RCV000215568 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566224153 13q13.1 13 32333184 A G Q R 569 569 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704219 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825284 13q13.1 13 32333187 A G N S 570 570 missense 0.0 benign 0.28 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082889,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637388 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782713 13q13.1 13 32333192 G A V I 572 572 missense 0.288 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000412238,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000468570,pubmed:25394175,ClinVar:RCV000132189 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782713 13q13.1 13 32333192 G C V L 572 572 missense 0.173 benign 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000475636 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1262187089 13q13.1 13 32333196 C G A G 573 573 missense 0.1285 benign 0.125 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000791628,pubmed:25394175,ClinVar:RCV000774021 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs761411987 13q13.1 13 32333195 G A A T 573 573 missense 0.001 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566224180 13q13.1 13 32333204 A G N D 576 576 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706183 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282035 13q13.1 13 32333206 T A N K 576 576 missense 0.6545 benign, probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637460 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661280 13q13.1 13 32333208 C T A V 577 577 missense 0.228 benign 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122730 13q13.1 13 32333211 G A G D 578 578 missense 0.964 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077664,pubmed:25394175,ClinVar:RCV000166334 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282036 13q13.1 13 32333210 G C G R 578 578 missense 0.984 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570541 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122730 13q13.1 13 32333211 G T G V 578 578 missense 0.974 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509702 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1131692274 13q13.1 13 32333214 T G L * 579 579 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000496052,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637369,pubmed:25394175,ClinVar:RCV000581310 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs750989404 13q13.1 13 32333218 A G I M 580 580 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs587778118 13q13.1 13 32333220 C T S F 581 581 missense 0.977 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476382,pubmed:25394175,ClinVar:RCV000223160 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs587778118 13q13.1 13 32333220 C T S F 581 581 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs55667299 13q13.1 13 32333219 T C S P 581 581 missense 0.97 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572100 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs587778118 13q13.1 13 32333220 C A S Y 581 581 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs587778118 13q13.1 13 32333220 C A S Y 581 581 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80358457 13q13.1 13 32333222 A G T A 582 582 3.99E-4 missense 0.512 benign, possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358457 13q13.1 13 32333222 A G T A 582 582 missense 0.672 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130844 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358457 13q13.1 13 32333222 A C T P 582 582 missense 0.967 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507604 13q13.1 13 32333226 T A L * 583 583 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000225624,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043871,pubmed:25394175,ClinVar:RCV000165753 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282048 13q13.1 13 32333231 A T K * 585 585 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000576622 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282049 13q13.1 13 32333232 A G K R 585 585 missense 0.8245 possibly damaging, probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582539 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507275 13q13.1 13 32333234 A T K * 586 586 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661446,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637397,pubmed:25394175,ClinVar:RCV000219960 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs397507275 13q13.1 13 32333234 A T K * 586 586 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507275 13q13.1 13 32333234 A G K E 586 586 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031336,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000801636,pubmed:25394175,ClinVar:RCV000166903 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1386205822 13q13.1 13 32333237 A G T A 587 587 missense 0.356 benign, possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203316 13q13.1 13 32333238 C G T R 587 587 missense 0.4065 benign, possibly damaging 0.3 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000553477,pubmed:25394175,ClinVar:RCV000166573 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122731 13q13.1 13 32333240 A G N D 588 588 missense 0.098 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077665,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531905,pubmed:25394175,ClinVar:RCV000163030 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1235065739 13q13.1 13 32333242 T G N K 588 588 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,dbSNP,gnomAD rs373400041 13q13.1 13 32333241 A G N S 588 588 missense 0.124 benign 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000258376 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,gnomAD rs373400041 13q13.1 13 32333241 A G N S 588 588 2.0E-4 missense 0.124 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282059 13q13.1 13 32333245 G C K N 589 589 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000560966 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587781801 13q13.1 13 32333243 A C K Q 589 589 missense 0.999 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558175,pubmed:25394175,ClinVar:RCV000130066 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358459 13q13.1 13 32333247 T G F C 590 590 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130772 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs786203548 13q13.1 13 32333249 A T I F 591 591 missense 0.943 possibly damaging, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660511 13q13.1 13 32333250 T C I T 591 591 missense 0.888 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637355,pubmed:25394175,ClinVar:RCV000220224 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs786203548 13q13.1 13 32333249 A G I V 591 591 missense 0.537 benign, probably damaging 0.085 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688840,pubmed:25394175,ClinVar:RCV000166907 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs772156559 13q13.1 13 32333253 A G Y C 592 592 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000536637,pubmed:25394175,ClinVar:RCV000221972 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs772156559 13q13.1 13 32333253 A T Y F 592 592 missense 0.996 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825286 13q13.1 13 32333255 G T A S 593 593 missense 0.3855 benign, possibly damaging 0.5 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082891,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637708,pubmed:25394175,ClinVar:RCV000562320 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1466122065 13q13.1 13 32333256 C T A V 593 593 missense 0.3785 benign, possibly damaging 0.3 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825287 13q13.1 13 32333258 A T I L 594 594 missense 0.417 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204513,pubmed:25394175,ClinVar:RCV000772141 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825287 13q13.1 13 32333258 A C I L 594 594 missense 0.417 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082892,pubmed:25394175,ClinVar:RCV000167234 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825287 13q13.1 13 32333258 A G I V 594 594 missense 0.084 benign 0.8 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000232234,pubmed:25394175,ClinVar:RCV000222554 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358460 13q13.1 13 32333262 A G H R 595 595 missense 0.0 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112967,pubmed:25394175,ClinVar:RCV000776231 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587781906 13q13.1 13 32333261 C T H Y 595 595 missense 0.108 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130245 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs56328701 13q13.1 13 32333264 G C D H 596 596 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56328701 13q13.1 13 32333264 G C D H 596 596 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083088 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs56328701 13q13.1 13 32333264 G A D N 596 596 missense 0.998 probably damaging 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56328701 13q13.1 13 32333264 G A D N 596 596 missense 0.5095 benign, probably damaging 0.21 tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240683 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358461 13q13.1 13 32333267 G T E * 597 597 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112969 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28897710 13q13.1 13 32333270 A G T A 598 598 5.99E-4 missense 0.012 benign 0.82 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897710 13q13.1 13 32333270 A G T A 598 598 missense 0.012 benign 0.82 tolerated 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 ClinVar:RCV000768623,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000074516 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358462 13q13.1 13 32333271 C T T I 598 598 missense 0.412 benign, possibly damaging 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112971,pubmed:25394175,ClinVar:RCV000509597 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA rs276174813 13q13.1 13 32333272_32333276ATCT T - S * 599 599 frameshift -1.0 unknown -1.0 unknown 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC rs1046984 13q13.1 13 32333274 C G S C 599 599 missense 0.066 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs1046984 13q13.1 13 32333274 C T S F 599 599 missense 0.045 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000794963,pubmed:25394175,ClinVar:RCV000565013 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358464 13q13.1 13 32333278 T G Y * 600 600 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077266,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496768,pubmed:25394175,ClinVar:RCV000162912 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358464 13q13.1 13 32333278 T A Y * 600 600 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031340,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496257,pubmed:25394175,ClinVar:RCV000131060 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358464 13q13.1 13 32333278 T A Y * 600 600 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358464 13q13.1 13 32333278 T G Y * 600 600 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507276 13q13.1 13 32333277 A G Y C 600 600 missense 0.02 benign 0.25 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031338 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507276 13q13.1 13 32333277 A T Y F 600 600 missense 0.648 possibly damaging 0.32 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000813386,pubmed:25394175,ClinVar:RCV000580594 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs75419644 13q13.1 13 32333276 T C Y H 600 600 missense 0.033 benign 0.33 tolerated 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:612555,MIM:227650 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112974,pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000298855 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768106492 13q13.1 13 32333281 A C K N 601 601 missense 0.007 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637541,pubmed:25394175,ClinVar:RCV000583149 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358466 13q13.1 13 32333282 G A G R 602 602 missense 0.011 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000162545 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs398122732 13q13.1 13 32333283 G T G V 602 602 missense 0.517 benign, probably damaging 0.015 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077666,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000824255,pubmed:25394175,ClinVar:RCV000572020 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282089 13q13.1 13 32333285 A G K E 603 603 missense 0.303 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571043 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358467 13q13.1 13 32333288 A G K E 604 604 missense 0.013 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358467 13q13.1 13 32333288 A G K E 604 604 missense 0.013 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853557 13q13.1 13 32333291 A T I L 605 605 missense 0.013 benign 0.27 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000232350 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358468 13q13.1 13 32333292 T C I T 605 605 missense 0.295 benign 0.27 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077667 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA rs80359307 COSM4666031 13q13.1 13 32333284 A - I Y 605 605 frameshift -1.0 unknown -1.0 unknown 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP rs80358469 COSM3885246 13q13.1 13 32333295 C T P L 606 606 missense 0.079 benign 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043900 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358469 13q13.1 13 32333295 C A P Q 606 606 missense 0.001 benign 1.0 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112981 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs765924757 COSM3468378 13q13.1 13 32333294 C T P S 606 606 missense 0.075 benign 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000814790 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs765924757 13q13.1 13 32333294 C A P T 606 606 missense 0.102 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358471 13q13.1 13 32333297 A T K * 607 607 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077668,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496499 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358471 13q13.1 13 32333297 A G K E 607 607 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775835 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358471 13q13.1 13 32333297 A C K Q 607 607 missense 0.921 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509940 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs55962656 13q13.1 13 32333298 A G K R 607 607 missense 0.877 possibly damaging 0.12 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637739 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs55962656 13q13.1 13 32333298 A C K T 607 607 missense 0.957 probably damaging 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043901 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202186 13q13.1 13 32333302 C G D E 608 608 missense 0.02 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164885 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794170 13q13.1 13 32333300 G A D N 608 608 missense 0.02 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637768,pubmed:25394175,ClinVar:RCV000563223 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358472 13q13.1 13 32333303 C T Q * 609 609 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112983 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358472 13q13.1 13 32333303 C G Q E 609 609 missense 0.99 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112982,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043902,pubmed:25394175,ClinVar:RCV000130263 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358473 13q13.1 13 32333304 A G Q R 609 609 missense 0.993 probably damaging 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083089,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043904,pubmed:25394175,ClinVar:RCV000164841 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358474 13q13.1 13 32333310 C A S * 611 611 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031345,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043906,pubmed:25394175,ClinVar:RCV000131056 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358474 13q13.1 13 32333310 C G S * 611 611 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257225,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000213224 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502431 13q13.1 13 32333309 T G S A 611 611 missense 0.153 benign 0.15 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000463684 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80358474 13q13.1 13 32333310 C T S L 611 611 missense 0.013 benign 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401938 13q13.1 13 32333312 G A E K 612 612 missense 0.775 possibly damaging 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs587780646 COSM1366396 13q13.1 13 32333316 T G L R 613 613 missense 0.724 possibly damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:612555,MIM:604370 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238635,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122900 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566224476 13q13.1 13 32333319 T C I T 614 614 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs777641881 13q13.1 13 32333321 A C N H 615 615 missense 0.771 possibly damaging 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs941500711 13q13.1 13 32333323 C A N K 615 615 missense 0.493 possibly damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462345 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs777641881 13q13.1 13 32333321 A T N Y 615 615 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777064 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1230674723 13q13.1 13 32333325 G C C S 616 616 missense 0.001 benign 0.54 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507278 13q13.1 13 32333328 C A S * 617 617 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000587137 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507278 13q13.1 13 32333328 C G S * 617 617 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031347,pubmed:25394175,ClinVar:RCV000509896 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782871 13q13.1 13 32333327 T C S P 617 617 missense 0.056 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704969,pubmed:25394175,ClinVar:RCV000132495 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358475 13q13.1 13 32333330 G C A P 618 618 missense 0.007 benign 0.03 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112986 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358475 13q13.1 13 32333330 G T A S 618 618 missense 0.014 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358476 13q13.1 13 32333333 C T Q * 619 619 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112988,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043911,pubmed:25394175,ClinVar:RCV000216070 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1064793402 13q13.1 13 32333338 T G F L 620 620 missense 0.014 benign 0.38 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000548581,pubmed:25394175,ClinVar:RCV000775934 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659195 13q13.1 13 32333336 T C F L 620 620 missense 0.014 benign 0.38 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222114 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782782 13q13.1 13 32333341 A C E D 621 621 missense 0.728 possibly damaging 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132323 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566224537 13q13.1 13 32333342 G A A T 622 622 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689741 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358477 13q13.1 13 32333343 C T A V 622 622 missense 0.828 possibly damaging 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129337 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502388 13q13.1 13 32333345 A G N D 623 623 missense 0.009 benign 0.5 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466100,pubmed:25394175,ClinVar:RCV000564189 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs769698255 13q13.1 13 32333349 C G A G 624 624 missense 0.009 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217365 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs769698255 13q13.1 13 32333349 C T A V 624 624 missense 0.009 benign 0.24 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358478 13q13.1 13 32333353 T A F L 625 625 missense 0.994 probably damaging 0.26 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130677 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566224551 COSM3468380 13q13.1 13 32333354 G A E K 626 626 missense 0.025 benign 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs587782055 13q13.1 13 32333358 C A A E 627 627 missense 0.928 probably damaging 0.43 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587782055 13q13.1 13 32333358 C G A G 627 627 missense 0.848 possibly damaging 0.35 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166337 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282140 13q13.1 13 32333357 G A A T 627 627 missense 0.127 benign 0.36 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587782055 13q13.1 13 32333358 C T A V 627 627 missense 0.742 possibly damaging 0.34 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130526 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1163156807 13q13.1 13 32333360 C T P S 628 628 missense 0.021 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637807 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1163156807 13q13.1 13 32333360 C A P T 628 628 missense 0.487 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs398122734 13q13.1 13 32333363 C T L F 629 629 missense 0.918 probably damaging 0.7 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077670,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637481,pubmed:25394175,ClinVar:RCV000130468 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs398122734 13q13.1 13 32333363 C G L V 629 629 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1335307553 13q13.1 13 32333366 A G T A 630 630 missense 0.167 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000526957,pubmed:25394175,ClinVar:RCV000771482 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358479 13q13.1 13 32333367 C T T I 630 630 missense 0.009 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659192 13q13.1 13 32333373 C G A G 632 632 missense 0.533 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457899,pubmed:25394175,ClinVar:RCV000214301 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282154 13q13.1 13 32333383 T G D E 635 635 missense 0.157 benign 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000552197 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566224604 13q13.1 13 32333381 G C D H 635 635 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776413 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825288 13q13.1 13 32333385 C G S * 636 636 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082893,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000526079 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825288 13q13.1 13 32333385 C T S L 636 636 missense 0.487 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220348 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660392 13q13.1 13 32336265 G T G V 637 637 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221807 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040396 13q13.1 13 32336268 T G L * 638 638 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257343 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358481 13q13.1 13 32336267 T G L V 638 638 missense 0.226 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112994,pubmed:25394175,ClinVar:RCV000561741 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202360 13q13.1 13 32336277 C T S F 641 641 missense 0.9 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165127 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs748394046 13q13.1 13 32336282 G T V L 643 643 missense 0.539 possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282365 13q13.1 13 32336286 A T K I 644 644 missense 0.684 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572009 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782589 13q13.1 13 32336291 A C S R 646 646 missense 0.006 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000555622,pubmed:25394175,ClinVar:RCV000131928 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897711 13q13.1 13 32336293 C A S R 646 646 missense 0.006 benign 0.19 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112996 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282367 13q13.1 13 32336294 T G C G 647 647 missense 0.799 possibly damaging 0.08 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529366 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282367 13q13.1 13 32336294 T C C R 647 647 missense 0.857 possibly damaging 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555282368 13q13.1 13 32336295 G C C S 647 647 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777009 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282368 13q13.1 13 32336295 G A C Y 647 647 missense 0.019 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000814757,pubmed:25394175,ClinVar:RCV000575462 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs886040398 13q13.1 13 32336298 C G S * 648 648 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257459 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs886040398 13q13.1 13 32336298 C T S L 648 648 missense 0.003 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122735 13q13.1 13 32336300 C T Q * 649 649 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077672,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496928,pubmed:25394175,ClinVar:RCV000772116 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1240729646 13q13.1 13 32336301 A C Q P 649 649 missense 0.916 probably damaging 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs773619645 13q13.1 13 32336304 A G N S 650 650 missense 0.017 benign 0.25 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476081,pubmed:25394175,ClinVar:RCV000772732 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs771442178 13q13.1 13 32336308 T G D E 651 651 missense 0.044 benign 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs747387987 13q13.1 13 32336307 A G D G 651 651 missense 0.226 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358482 13q13.1 13 32336306 G T D Y 651 651 missense 0.021 benign 0.03 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112998 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786203845 13q13.1 13 32336315 G T E * 654 654 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241155,pubmed:25394175,ClinVar:RCV000167330 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs786203845 13q13.1 13 32336315 G A E K 654 654 missense 0.997 probably damaging 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs28897712 13q13.1 13 32336319 C T P L 655 655 missense 0.027 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs28897712 13q13.1 13 32336319 C A P Q 655 655 missense 0.898 possibly damaging 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897712 13q13.1 13 32336319 C G P R 655 655 missense 0.809 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000162572 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566225847 13q13.1 13 32336318 C A P T 655 655 missense 0.49 possibly damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122736 13q13.1 13 32336321 A G T A 656 656 missense 0.001 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077673,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637334,pubmed:25394175,ClinVar:RCV000216699 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs876660857 13q13.1 13 32336322 C T T I 656 656 missense 0.369 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876660857 13q13.1 13 32336322 C A T N 656 656 missense 0.155 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218630 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507279 13q13.1 13 32336325 T A L * 657 657 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031352,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558782,pubmed:25394175,ClinVar:RCV000223168 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs775060172 13q13.1 13 32336328 C T S F 658 658 missense 0.026 benign 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000463284 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs762591130 13q13.1 13 32336334 C G T S 660 660 missense 0.167 benign 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282387 13q13.1 13 32336342 T C F L 663 663 missense 0.138 benign 0.38 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637323 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs757043784 13q13.1 13 32336344 T A F L 663 663 missense 0.138 benign 0.38 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs552526845 13q13.1 13 32336343 T C F S 663 663 missense 0.006 benign 0.4 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637410,pubmed:25394175,ClinVar:RCV000165107 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282391 13q13.1 13 32336346 G C G A 664 664 missense 0.615 possibly damaging 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575118 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1346252146 13q13.1 13 32336345 G A G R 664 664 missense 0.085 benign 0.34 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1346252146 13q13.1 13 32336345 G T G W 664 664 missense 0.981 probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000537108 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144192844 13q13.1 13 32336348 A G T A 665 665 missense 0.105 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239179,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466395,pubmed:25394175,ClinVar:RCV000130109 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781917 13q13.1 13 32336349 C A T K 665 665 missense 0.273 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130260 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs864622172 13q13.1 13 32336351 A G I V 666 666 missense 0.015 benign 0.81 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204625 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358483 13q13.1 13 32336358 G A R K 668 668 missense 0.041 benign 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113004,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043934 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566225927 13q13.1 13 32336363 T C C R 670 670 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000699997 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs779136624 13q13.1 13 32336366 T C S P 671 671 missense 0.776 possibly damaging 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282398 13q13.1 13 32336367 C A S Y 671 671 missense 0.172 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587781647 13q13.1 13 32336369 A G R G 672 672 missense 0.026 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129778 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566225944 13q13.1 13 32336371 A C R S 672 672 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772166 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1193025774 13q13.1 13 32336373 A G N S 673 673 missense 0.3 benign 0.24 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358484 13q13.1 13 32336379 C G T R 675 675 missense 0.242 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113006,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168556,pubmed:25394175,ClinVar:RCV000222018 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs397507280 13q13.1 13 32336381 T C C R 676 676 missense 0.133 benign 0.18 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031353,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000816423 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502422 13q13.1 13 32336382 G C C S 676 676 missense 0.001 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000461375 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658723 13q13.1 13 32336384 T G S A 677 677 missense 0.096 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219469 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555282410 13q13.1 13 32336385 C G S C 677 677 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000771649 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282410 13q13.1 13 32336385 C T S F 677 677 missense 0.139 benign 0.62 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568117 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282412 13q13.1 13 32336388 A C N T 678 678 missense 0.013 benign 0.56 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569537 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202617 13q13.1 13 32336390 A G N D 679 679 missense 0.2 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637405,pubmed:25394175,ClinVar:RCV000772334 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1406955615 13q13.1 13 32336392 T A N K 679 679 missense 0.907 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202617 13q13.1 13 32336390 A T N Y 679 679 missense 0.967 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000806648,pubmed:25394175,ClinVar:RCV000165512 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226005 13q13.1 13 32336394 C T T I 680 680 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772333 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226005 13q13.1 13 32336394 C G T R 680 680 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704126 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1039304689 13q13.1 13 32336397 T C V A 681 681 missense 0.06 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122738 13q13.1 13 32336399 A T I F 682 682 missense 0.726 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164636 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122739 13q13.1 13 32336400 T C I T 682 682 missense 0.087 benign 0.12 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 ClinVar:RCV000770714,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077676,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000525381 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122738 13q13.1 13 32336399 A G I V 682 682 missense 0.03 benign 0.34 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000560974 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226030 13q13.1 13 32336403 C T S F 683 683 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773916 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282420 13q13.1 13 32336409 A T D V 685 685 missense 0.867 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584011 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1135401896 13q13.1 13 32336411 C T L F 686 686 missense 0.315 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1135401896 13q13.1 13 32336411 C A L I 686 686 missense 0.792 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358485 13q13.1 13 32336419 T G Y * 688 688 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113009 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs28897713 13q13.1 13 32336418 A G Y C 688 688 missense 0.059 benign 0.16 tolerated 0 Melanoma MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000807590,pubmed:25394175,ClinVar:RCV000772733,ClinVar:RCV000626573 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825290 13q13.1 13 32336426 G A A T 691 691 missense 0.03 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082895,pubmed:25394175,ClinVar:RCV000565909 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs868546240 13q13.1 13 32336427 C T A V 691 691 missense 0.138 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000550266,pubmed:25394175,ClinVar:RCV000574854 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs878853558 13q13.1 13 32336432 T C C R 693 693 missense 0.173 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000226849,pubmed:25394175,ClinVar:RCV000565629 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs771226774 13q13.1 13 32336433 G A C Y 693 693 missense 0.173 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825291 13q13.1 13 32336441 G T E * 696 696 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257074 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658320 13q13.1 13 32336444 A G K E 697 697 missense 0.028 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216832 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659230 13q13.1 13 32336446 A C K N 697 697 missense 0.571 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215784 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853559 13q13.1 13 32336450 C T Q * 699 699 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256526,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229702,pubmed:25394175,ClinVar:RCV000510002,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000494713 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs80358486 13q13.1 13 32336452 G T Q H 699 699 missense 0.335 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113013,pubmed:25394175,ClinVar:RCV000563839 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282449 13q13.1 13 32336454 T A L * 700 700 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs431825293 13q13.1 13 32336453 T A L I 700 700 missense 0.34 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082898,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204537,pubmed:25394175,ClinVar:RCV000776355 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs774968533 13q13.1 13 32336459 A G I V 702 702 missense 0.007 benign 0.2 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000539846 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660137 13q13.1 13 32336463 C T T I 703 703 missense 0.005 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000802485,pubmed:25394175,ClinVar:RCV000222864 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768323836 13q13.1 13 32336466 C T P L 704 704 missense 0.772 possibly damaging 0.38 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637734 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1209541961 13q13.1 13 32336465 C T P S 704 704 missense 0.139 benign 0.76 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC rs773905673 13q13.1 13 32336472 C G A G 706 706 missense 0.02 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1453451895 13q13.1 13 32336471 G A A T 706 706 missense 0.009 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695922 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs80358487 13q13.1 13 32336474 G A D N 707 707 2.0E-4 missense 0.135 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1232197541 13q13.1 13 32336475 A T D V 707 707 missense 0.795 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs80358487 13q13.1 13 32336474 G T D Y 707 707 missense 0.729 possibly damaging 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113016 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358488 13q13.1 13 32336477 T A S T 708 708 missense 0.173 benign 0.38 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 ClinVar:RCV000735530,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113017,ClinVar:RCV000763881,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763881,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763881,ClinVar:RCV000763881,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043947,pubmed:25394175,ClinVar:RCV000130632,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763881,ClinVar:RCV000763881,ClinVar:RCV000763881,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763881 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358489 13q13.1 13 32336480 C A L M 709 709 missense 0.994 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509608 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358489 13q13.1 13 32336480 C G L V 709 709 missense 0.978 probably damaging 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164754 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040405 13q13.1 13 32336484 C G S * 710 710 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257558 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs535547513 COSM78886 13q13.1 13 32336488 C A C * 711 711 stop gained -1.0 unknown -1.0 unknown 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661794,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000807132 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs535547513 13q13.1 13 32336488 C G C W 711 711 missense 0.794 possibly damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000554597 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358490 13q13.1 13 32336490 T C L P 712 712 missense 0.0 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113019,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043949,pubmed:25394175,ClinVar:RCV000131476 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040407 13q13.1 13 32336492 C T Q * 713 713 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257325 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55816687 13q13.1 13 32336493 A T Q L 713 713 missense 0.059 benign 0.07 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000148430 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55816687 13q13.1 13 32336493 A C Q P 713 713 missense 0.945 probably damaging 0.15 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144583 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226193 13q13.1 13 32336499 G C G A 715 715 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691258 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226193 13q13.1 13 32336499 G A G E 715 715 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774965 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1007336407 13q13.1 13 32336498 G A G R 715 715 missense 0.015 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876659550 13q13.1 13 32336503 G C Q H 716 716 missense 0.866 possibly damaging 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000528346,pubmed:25394175,ClinVar:RCV000221379 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660512 13q13.1 13 32336506 T A C * 717 717 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256776,pubmed:25394175,ClinVar:RCV000213890 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282483 13q13.1 13 32336504 T G C G 717 717 missense 0.127 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575188 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1184992634 13q13.1 13 32336505 G A C Y 717 717 missense 0.003 benign 0.77 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502427 13q13.1 13 32336508 A C E A 718 718 missense 0.253 benign 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460441 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226220 13q13.1 13 32336509 A C E D 718 718 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704771 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507281 13q13.1 13 32336507 G A E K 718 718 missense 0.015 benign 0.16 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462341 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064797382 13q13.1 13 32336512 T A N K 719 719 missense 0.268 benign 0.05 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000487726 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs539724529 13q13.1 13 32336511 A G N S 719 719 2.0E-4 missense 0.268 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs730881512 13q13.1 13 32336517 C G P R 721 721 missense 0.94 probably damaging 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs867089743 13q13.1 13 32336516 C T P S 721 721 missense 0.169 benign 0.36 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509668 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825294 13q13.1 13 32336528 A G K E 725 725 missense 0.007 benign 0.3 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082899,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000814350 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358491 13q13.1 13 32336530 A T K N 725 725 missense 0.012 benign 0.29 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113020 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1411037688 13q13.1 13 32336532 T C V A 726 726 missense 0.755 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs757577670 13q13.1 13 32336538 A C D A 728 728 missense 0.03 benign 0.06 tolerated 0 Breast cancer (BC) A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226248 13q13.1 13 32336537 G T D Y 728 728 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773466 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507620 13q13.1 13 32336542 A G I M 729 729 missense 0.138 benign 0.03 deleterious 0 Breast cancer (BC) A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs431825296 13q13.1 13 32336541 T C I T 729 729 missense 0.012 benign 0.15 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082901,ClinVar:RCV000763882,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763882,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763882,ClinVar:RCV000763882,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637814,pubmed:25394175,ClinVar:RCV000166578,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763882,ClinVar:RCV000763882,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240800,pubmed:22964825,pubmed:24493721,ClinVar:RCV000677830,ClinVar:RCV000763882,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763882 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825295 13q13.1 13 32336540 A G I V 729 729 missense 0.007 benign 0.49 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082900,pubmed:25394175,ClinVar:RCV000219501 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282510 13q13.1 13 32336543 A G K E 730 730 missense 0.105 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584171 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1456382766 13q13.1 13 32336550 A C E A 732 732 missense 0.149 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1244303575 COSM1300148 13q13.1 13 32336549 G C E Q 732 732 missense 0.149 benign 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658303 13q13.1 13 32336552 G T V F 733 733 missense 0.921 probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000576121 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401897 13q13.1 13 32336553 T G V G 733 733 missense 0.637 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658303 13q13.1 13 32336552 G A V I 733 733 missense 0.166 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531556,pubmed:25394175,ClinVar:RCV000213758 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881513 13q13.1 13 32336561 G A A T 736 736 missense 0.028 benign 0.38 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000551881 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs746291931 13q13.1 13 32336562 C T A V 736 736 missense 0.077 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660923 13q13.1 13 32336565 C G A G 737 737 missense 0.053 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222373 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358492 13q13.1 13 32336564 G T A S 737 737 missense 0.138 benign 0.11 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113021 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122742 13q13.1 13 32336569 T A C * 738 738 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077679,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000693161,pubmed:25394175,ClinVar:RCV000581800 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1219265131 13q13.1 13 32336568 G A C Y 738 738 missense 0.0 benign 0.91 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282536 13q13.1 13 32336570 C G H D 739 739 missense 0.211 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565578 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358493 13q13.1 13 32336576 G A V I 741 741 missense 0.134 benign 0.34 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358493 13q13.1 13 32336576 G T V L 741 741 missense 0.389 benign 0.13 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113023 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358493 13q13.1 13 32336576 G C V L 741 741 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773603 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358494 13q13.1 13 32336579 C T Q * 742 742 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077273,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496760,pubmed:25394175,ClinVar:RCV000568409 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358494 13q13.1 13 32336579 C G Q E 742 742 missense 0.138 benign 0.44 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358494 13q13.1 13 32336579 C A Q K 742 742 missense 0.138 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531299,pubmed:25394175,ClinVar:RCV000164550 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1282599125 13q13.1 13 32336580 A G Q R 742 742 missense 0.012 benign 0.92 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507282 13q13.1 13 32336586 C G S * 744 744 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031358,pubmed:25394175,ClinVar:RCV000572355 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507282 13q13.1 13 32336586 C A S * 744 744 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661473,pubmed:25394175,ClinVar:RCV000216087 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507282 13q13.1 13 32336586 C T S L 744 744 missense 0.026 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000546053,pubmed:25394175,ClinVar:RCV000166823 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs374691587 13q13.1 13 32336588 A G K E 745 745 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130703 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs878853561 13q13.1 13 32336594 G T E * 747 747 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661458,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229810 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507283 13q13.1 13 32336595 A C E A 747 747 missense 0.879 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572016 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507283 13q13.1 13 32336595 A G E G 747 747 missense 0.959 probably damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031359,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204756,pubmed:25394175,ClinVar:RCV000215823 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs878853561 13q13.1 13 32336594 G A E K 747 747 missense 0.31 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282563 13q13.1 13 32336599 C G Y * 748 748 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569671 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358495 13q13.1 13 32336600 A G S G 749 749 missense 0.007 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113026,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043961,pubmed:25394175,ClinVar:RCV000129533 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80358495 13q13.1 13 32336600 A C S R 749 749 missense 0.062 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282574 13q13.1 13 32336604 A G D G 750 750 missense 0.005 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572429 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs773125650 13q13.1 13 32336603 G C D H 750 750 missense 0.847 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239212,pubmed:25394175,ClinVar:RCV000166180 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs398122743 13q13.1 13 32336607 C T T I 751 751 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077680,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704300,pubmed:25394175,ClinVar:RCV000165229 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs766384913 13q13.1 13 32336611 C A D E 752 752 missense 0.098 benign 0.64 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238854,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000796342 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs766384913 13q13.1 13 32336611 C G D E 752 752 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773978 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853562 13q13.1 13 32336612 T C F L 753 753 missense 0.026 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000232533 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782883 13q13.1 13 32336613 T C F S 753 753 missense 0.267 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132519 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358496 13q13.1 13 32336615 C A Q K 754 754 missense 0.356 benign 0.17 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113028 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs56289428 13q13.1 13 32336616 A T Q L 754 754 missense 0.086 benign 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs56289428 13q13.1 13 32336616 A C Q P 754 754 missense 0.029 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs56289428 13q13.1 13 32336616 A G Q R 754 754 missense 0.086 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579609 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659060 13q13.1 13 32336619 C G S C 755 755 missense 0.978 probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460156,pubmed:25394175,ClinVar:RCV000218185 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057518637 13q13.1 13 32336621 C T Q * 756 756 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661584,pubmed:25394175,ClinVar:RCV000509837,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000414647 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1374193072 13q13.1 13 32336622 A G Q R 756 756 missense 0.399 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040419 13q13.1 13 32336624 A T K * 757 757 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256622,pubmed:25394175,ClinVar:RCV000772134 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040419 13q13.1 13 32336624 A G K E 757 757 missense 0.073 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000456308 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs763035556 13q13.1 13 32336625 A G K R 757 757 missense 0.106 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772735 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs142243359 13q13.1 13 32336629 T G S R 758 758 missense 0.037 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129440 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358497 13q13.1 13 32336630 C T L F 759 759 missense 0.0 benign 0.91 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113029 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282592 13q13.1 13 32336631 T C L P 759 759 missense 0.0 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568499 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs757410810 13q13.1 13 32336634 T G L * 760 760 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584304 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs757410810 13q13.1 13 32336634 T C L S 760 760 missense 0.907 possibly damaging 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255443 13q13.1 13 32336637 A G Y C 761 761 missense 0.005 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000815303,pubmed:25394175,ClinVar:RCV000566368 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358499 13q13.1 13 32336636 T C Y H 761 761 missense 0.005 benign 0.54 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031360,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043968,pubmed:25394175,ClinVar:RCV000132108 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255443 13q13.1 13 32336637 A C Y S 761 761 missense 0.131 benign 0.41 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239075,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700897 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282600 13q13.1 13 32336640 A G D G 762 762 missense 0.012 benign 0.52 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529943 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555282600 13q13.1 13 32336640 A T D V 762 762 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776774 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs863224585 13q13.1 13 32336642 C G H D 763 763 missense 0.011 benign 0.17 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000200091 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs781443201 13q13.1 13 32336644 T G H Q 763 763 missense 0.096 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587782158 13q13.1 13 32336645 G C E Q 764 764 missense 0.34 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000409830,pubmed:25394175,ClinVar:RCV000130748 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs750755676 13q13.1 13 32336654 A C S R 767 767 missense 0.138 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637714,pubmed:25394175,ClinVar:RCV000579867 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs55824746 13q13.1 13 32336658 C T T I 768 768 missense 0.015 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113030,pubmed:25394175,ClinVar:RCV000218187 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282603 13q13.1 13 32336661 T C L P 769 769 missense 0.993 probably damaging 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637727 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587782095 13q13.1 13 32336667 T G L * 771 771 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241179,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496732,pubmed:25394175,ClinVar:RCV000130606 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794522 13q13.1 13 32336670 C T T I 772 772 missense 0.956 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580617 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1177705048 13q13.1 13 32336673 C T P L 773 773 missense 0.12 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs55968715 13q13.1 13 32336675 A G T A 774 774 missense 0.005 benign 0.08 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031362 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1239876081 13q13.1 13 32336676 C T T I 774 774 missense 0.185 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562056 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174820 13q13.1 13 32336679 C T S F 775 775 missense 0.037 benign 0.09 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113032 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659502 13q13.1 13 32336682 A G K R 776 776 missense 0.149 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214319 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs780489283 13q13.1 13 32336685 A G D G 777 777 missense 0.059 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000409339,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000196448,pubmed:25394175,ClinVar:RCV000164609 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793704 13q13.1 13 32336688 T C V A 778 778 missense 0.067 benign 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587779360 13q13.1 13 32336687 G A V I 778 778 missense 0.319 benign 0.32 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129872 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs916055887 13q13.1 13 32336690 C G L V 779 779 missense 0.709 possibly damaging 0.33 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587781471 13q13.1 13 32336694 C G S * 780 780 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241405,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000508058,pubmed:25394175,ClinVar:RCV000129415 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782485 13q13.1 13 32336696 A C N H 781 781 missense 0.967 probably damaging 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697994,pubmed:25394175,ClinVar:RCV000131604 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876660253 13q13.1 13 32336698 C A N K 781 781 missense 0.767 possibly damaging 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000547906,pubmed:25394175,ClinVar:RCV000216667 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661019 13q13.1 13 32336700 T A L Q 782 782 missense 0.419 benign 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs749810048 13q13.1 13 32336699 C G L V 782 782 missense 0.149 benign 0.29 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs768143929 13q13.1 13 32336703 T C V A 783 783 missense 0.01 benign 0.82 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696795,pubmed:25394175,ClinVar:RCV000564881 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs768143929 13q13.1 13 32336703 T G V G 783 783 missense 0.003 benign 0.37 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238666,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000559193 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226546 13q13.1 13 32336702 G C V L 783 783 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690022 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282633 13q13.1 13 32336706 T G M R 784 784 missense 0.003 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562828 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs11571653 13q13.1 13 32336705 A G M V 784 784 missense 0.0 benign 1.0 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000412901 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs747748537 13q13.1 13 32336708 A C I L 785 785 missense 0.253 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1305610719 13q13.1 13 32336710 T G I M 785 785 missense 0.828 possibly damaging 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs771599029 13q13.1 13 32336709 T C I T 785 785 missense 0.025 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs747748537 13q13.1 13 32336708 A G I V 785 785 missense 0.047 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000537492,pubmed:25394175,ClinVar:RCV000773187 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358501 13q13.1 13 32336712 C G S C 786 786 missense 0.877 possibly damaging 0.05 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113035,pubmed:25394175,ClinVar:RCV000773259 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502451 13q13.1 13 32336714 A G R G 787 787 missense 0.007 benign 0.21 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000468693 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886039316 13q13.1 13 32336718 G A G D 788 788 missense 0.637 possibly damaging 0.42 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510030 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502434 13q13.1 13 32336717 G A G S 788 788 missense 0.557 possibly damaging 0.46 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000470991 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782062 13q13.1 13 32336721 A G K R 789 789 missense 0.883 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690062,pubmed:25394175,ClinVar:RCV000130544 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122746 13q13.1 13 32336723 G T E * 790 790 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077684,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000507480 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs398122746 13q13.1 13 32336723 G A E K 790 790 missense 0.263 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282644 13q13.1 13 32336724 A T E V 790 790 missense 0.962 probably damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579521 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507624 13q13.1 13 32336727 C A S * 791 791 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661619 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358503 13q13.1 13 32336731 C G Y * 792 792 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661730,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709302,pubmed:25394175,ClinVar:RCV000509665 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358503 13q13.1 13 32336731 C A Y * 792 792 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077277,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043981,pubmed:25394175,ClinVar:RCV000131058 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226599 13q13.1 13 32336730 A G Y C 792 792 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1484798037 13q13.1 13 32336729 T C Y H 792 792 missense 0.007 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282646 13q13.1 13 32336737 G T M I 794 794 missense 0.001 benign 0.29 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1465976941 13q13.1 13 32336736 T C M T 794 794 missense 0.025 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs786203635 13q13.1 13 32336735 A G M V 794 794 missense 0.003 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688301,pubmed:25394175,ClinVar:RCV000167035 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs878853563 13q13.1 13 32336738 T G S A 795 795 missense 0.839 possibly damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs878853563 13q13.1 13 32336738 T C S P 795 795 missense 0.108 benign 0.2 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459755 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs878853563 13q13.1 13 32336738 T A S T 795 795 missense 0.525 possibly damaging 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233344 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282650 13q13.1 13 32336741 G C D H 796 796 missense 0.789 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573782 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs587782737 13q13.1 13 32336744 A G K E 797 797 missense 0.007 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574060 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs587776462 13q13.1 13 32336746 G T K N 797 797 missense 0.034 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs587782737 13q13.1 13 32336744 A C K Q 797 797 missense 0.237 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000806650,pubmed:25394175,ClinVar:RCV000132239 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs759389988 13q13.1 13 32336748 T G L R 798 798 missense 0.522 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282656 13q13.1 13 32336751 A G K R 799 799 missense 0.104 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 ClinVar:RCV000769685,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000802457,pubmed:25394175,ClinVar:RCV000571372 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825297 13q13.1 13 32336753 G T G C 800 800 missense 0.0 benign 0.2 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637446 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs276174821 13q13.1 13 32336754 G A G D 800 800 missense 0.15 benign 0.21 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000624979 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs276174821 13q13.1 13 32336754 G T G V 800 800 missense 0.003 benign 0.49 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113036 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs765279896 13q13.1 13 32336756 A G N D 801 801 missense 0.149 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000801572,pubmed:25394175,ClinVar:RCV000580193 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1379713510 13q13.1 13 32336758 C A N K 801 801 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564509 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876661089 13q13.1 13 32336760 A G N S 802 802 missense 0.03 benign 0.18 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000763883,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763883,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763883,ClinVar:RCV000763883,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000547681,pubmed:25394175,ClinVar:RCV000510101,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763883,ClinVar:RCV000763883,ClinVar:RCV000763883,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763883 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358504 13q13.1 13 32336764 T G Y * 803 803 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000769686,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031365,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043984,pubmed:25394175,ClinVar:RCV000573627 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226664 13q13.1 13 32336763 A C Y S 803 803 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000685915 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1131692107 13q13.1 13 32336773 T A D E 806 806 missense 0.053 benign 0.65 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510100 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358506 13q13.1 13 32336772 A G D G 806 806 missense 0.007 benign 1.0 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083091 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs56404215 13q13.1 13 32336771 G C D H 806 806 missense 0.917 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113037,pubmed:25394175,ClinVar:RCV000163001 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507285 13q13.1 13 32336781 T G L * 809 809 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031367,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204854,pubmed:25394175,ClinVar:RCV000561108 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358508 13q13.1 13 32336783 A G T A 810 810 missense 0.003 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077278,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043990,pubmed:25394175,ClinVar:RCV000564107 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358509 13q13.1 13 32336784 C T T I 810 810 missense 0.018 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131752 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358509 13q13.1 13 32336784 C A T N 810 810 missense 0.361 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282665 13q13.1 13 32336790 A C N T 812 812 missense 0.388 benign 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000540692 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358510 13q13.1 13 32336796 C T P L 814 814 missense 0.096 benign 0.13 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113044 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs786203814 13q13.1 13 32336798 A C M L 815 815 missense 0.003 benign 0.78 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509984 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1303254121 13q13.1 13 32336799 T C M T 815 815 missense 0.017 benign 0.25 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637404,pubmed:25394175,ClinVar:RCV000509649 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs786203814 13q13.1 13 32336798 A G M V 815 815 missense 0.006 benign 0.86 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000410955,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000456518,pubmed:25394175,ClinVar:RCV000167284 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282673 13q13.1 13 32336802 A G E G 816 816 missense 0.065 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562111 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881514 13q13.1 13 32336801 G A E K 816 816 missense 0.864 possibly damaging 0.17 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637641 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,dbSNP,gnomAD rs767686668 COSM2071310 13q13.1 13 32336806 G T K N 817 817 missense 0.017 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569494 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782142 13q13.1 13 32336804 A C K Q 817 817 missense 0.571 possibly damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130700 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs750667529 13q13.1 13 32336807 A C N H 818 818 missense 0.891 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571789 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282681 13q13.1 13 32336808 A G N S 818 818 missense 0.087 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567852 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507629 13q13.1 13 32336810 C T Q * 819 819 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257203 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282683 13q13.1 13 32336811 A G Q R 819 819 missense 0.713 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561854 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282686 13q13.1 13 32336815 T G D E 820 820 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580423 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs80358511 13q13.1 13 32336814 A G D G 820 820 missense 0.003 benign 0.05 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077279 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,gnomAD rs80358511 13q13.1 13 32336814 A T D V 820 820 missense 0.34 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs756411508 13q13.1 13 32336816 G A V I 821 821 missense 0.013 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000590888 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358512 13q13.1 13 32336819 T C C R 822 822 missense 0.564 possibly damaging 0.36 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077280,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044001,pubmed:25394175,ClinVar:RCV000220861 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282694 13q13.1 13 32336823 C A A D 823 823 missense 0.139 benign 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637787 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659299 13q13.1 13 32336822 G A A T 823 823 missense 0.005 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222066 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507631 13q13.1 13 32336826 T G L * 824 824 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257389,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044003 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507631 13q13.1 13 32336826 T C L S 824 824 missense 0.943 probably damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781483 13q13.1 13 32336828 A G N D 825 825 missense 0.279 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695548,pubmed:25394175,ClinVar:RCV000129442 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226801 13q13.1 13 32336830 T G N K 825 825 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776855 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1214763097 13q13.1 13 32336832 A C E A 826 826 missense 0.373 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226803 13q13.1 13 32336831 G A E K 826 826 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000694642 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226814 13q13.1 13 32336835 A G N S 827 827 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358513 13q13.1 13 32336838 A G Y C 828 828 missense 0.006 benign 0.08 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113049 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502466 13q13.1 13 32336837 T C Y H 828 828 missense 0.269 benign 0.16 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000487989 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1270048702 13q13.1 13 32336840 A G K E 829 829 missense 0.101 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000524581,pubmed:25394175,ClinVar:RCV000774651 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs574039421 13q13.1 13 32336843 A G N D 830 830 missense 0.06 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662824,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168262,pubmed:25394175,ClinVar:RCV000132391 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202809 13q13.1 13 32336844 A T N I 830 830 missense 0.373 benign 0.11 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637393 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56331088 13q13.1 13 32336845 C G N K 830 830 missense 0.003 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56331088 13q13.1 13 32336845 C A N K 830 830 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129537 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202809 13q13.1 13 32336844 A G N S 830 830 missense 0.06 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165820 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs779520270 13q13.1 13 32336847 T C V A 831 831 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695903,pubmed:25394175,ClinVar:RCV000221675 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507287 13q13.1 13 32336846 G A V I 831 831 missense 0.007 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031369,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204111,pubmed:25394175,ClinVar:RCV000221646 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202875 13q13.1 13 32336849 G T E * 832 832 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241463,pubmed:25394175,ClinVar:RCV000165924 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226846 13q13.1 13 32336853 T C L P 833 833 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000693433 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1064794947 13q13.1 13 32336857 G T L F 834 834 missense 0.379 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358514 13q13.1 13 32336858 C T P S 835 835 missense 0.044 benign 0.73 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113052 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs80358514 13q13.1 13 32336858 C A P T 835 835 missense 0.476 possibly damaging 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs397507288 13q13.1 13 32336862 C T P L 836 836 missense 0.149 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs747578057 13q13.1 13 32336867 A G K E 838 838 missense 0.843 possibly damaging 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358516 13q13.1 13 32336872 C A Y * 839 839 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113053,pubmed:25394175,ClinVar:RCV000131057 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587778125 13q13.1 13 32336870 T C Y H 839 839 missense 0.017 benign 0.3 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000686331,pubmed:25394175,ClinVar:RCV000220257 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226868 13q13.1 13 32336875 G A M I 840 840 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774314 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs758009637 13q13.1 13 32336874 T C M T 840 840 missense 0.0 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000694649,pubmed:25394175,ClinVar:RCV000564018 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282722 13q13.1 13 32336876 A G R G 841 841 missense 0.039 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564775 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587781915 13q13.1 13 32336877 G A R K 841 841 missense 0.003 benign 0.76 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663004,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205313,pubmed:25394175,ClinVar:RCV000130258 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587781915 13q13.1 13 32336877 G C R T 841 841 missense 0.0 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000555152 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782454 13q13.1 13 32336879 G C V L 842 842 missense 0.036 benign 0.31 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238749 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282730 13q13.1 13 32336882 G T A S 843 843 missense 0.771 possibly damaging 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510123 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282730 13q13.1 13 32336882 G A A T 843 843 missense 0.167 benign 0.42 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637751 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358517 13q13.1 13 32336883 C T A V 843 843 missense 0.06 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113055,pubmed:25394175,ClinVar:RCV000219470 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1288748311 13q13.1 13 32336889 C T P L 845 845 missense 0.988 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358518 13q13.1 13 32336892 C G S * 846 846 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113056 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040435 13q13.1 13 32336894 A T R * 847 847 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257080 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502457 13q13.1 13 32336895 G A R K 847 847 missense 0.086 benign 0.31 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000465737 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282739 13q13.1 13 32336898 A G K R 848 848 missense 0.419 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570148 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1288644511 13q13.1 13 32336901 T C V A 849 849 missense 0.281 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202105 13q13.1 13 32336900 G T V L 849 849 missense 0.007 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164752 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038075 13q13.1 13 32336903 C T Q * 850 850 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241213 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs775531301 13q13.1 13 32336909 A C N H 852 852 missense 0.107 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239170,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000794988,pubmed:25394175,ClinVar:RCV000771292 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226932 COSM4047058 13q13.1 13 32336911 C G N K 852 852 missense 0.452 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777070 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358519 13q13.1 13 32336910 A G N S 852 852 missense 0.009 benign 0.15 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031371 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs56245590 13q13.1 13 32336913 A G Q R 853 853 missense 0.017 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000211539,pubmed:25394175,ClinVar:RCV000130947 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1413706911 13q13.1 13 32336915 A G N D 854 854 missense 0.159 benign 0.11 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709303 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358520 13q13.1 13 32336916 A G N S 854 854 missense 0.843 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113061,pubmed:25394175,ClinVar:RCV000219656 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1174270999 13q13.1 13 32336918 A G T A 855 855 missense 0.087 benign 0.25 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507289 13q13.1 13 32336927 A G R G 858 858 missense 0.003 benign 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000532132 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566226964 13q13.1 13 32336931 T C V A 859 859 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709304 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202072 13q13.1 13 32336933 A G I V 860 860 missense 0.26 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164704 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs773356478 13q13.1 13 32336936 C T Q * 861 861 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000588708 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs773356478 13q13.1 13 32336936 C A Q K 861 861 missense 0.709 possibly damaging 0.21 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772736 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659257 13q13.1 13 32336940 A G K R 862 862 missense 0.624 possibly damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222976 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358521 13q13.1 13 32336944 T A N K 863 863 missense 0.001 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130583 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed rs760880622 13q13.1 13 32336943 A G N S 863 863 missense 0.0 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed rs760880622 13q13.1 13 32336943 A C N T 863 863 missense 0.0 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502414 13q13.1 13 32336945 C T Q * 864 864 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661527,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000461340 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659547 13q13.1 13 32336946 A T Q L 864 864 missense 0.419 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000475885,pubmed:25394175,ClinVar:RCV000220456 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659547 13q13.1 13 32336946 A C Q P 864 864 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581027 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782014 13q13.1 13 32336948 G T E * 865 865 stop gained -1.0 unknown -1.0 unknown 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000502188 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782014 13q13.1 13 32336948 G C E Q 865 865 missense 0.844 possibly damaging 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000557017,pubmed:25394175,ClinVar:RCV000130440 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622476 13q13.1 13 32336951 G T E * 866 866 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569074 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587780549 13q13.1 13 32336953 A T E D 866 866 missense 0.166 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000119197,pubmed:25394175,ClinVar:RCV000129897 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622476 13q13.1 13 32336951 G A E K 866 866 missense 0.06 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570600 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622476 13q13.1 13 32336951 G C E Q 866 866 missense 0.804 possibly damaging 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204729 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282752 13q13.1 13 32336952 A T E V 866 866 missense 0.253 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510004 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358522 13q13.1 13 32336954 A G T A 867 867 missense 0.594 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113068,pubmed:25394175,ClinVar:RCV000572035 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566227012 COSM946778 13q13.1 13 32336958 C T T I 868 868 missense 0.16 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1368861313 13q13.1 13 32336957 A C T P 868 868 missense 0.017 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000801001,pubmed:25394175,ClinVar:RCV000776901 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358523 13q13.1 13 32336961 C G S * 869 869 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238628,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459261,pubmed:25394175,ClinVar:RCV000572852 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358523 13q13.1 13 32336961 C T S L 869 869 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000163028 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs546036225 13q13.1 13 32336963 A G I V 870 870 2.0E-4 missense 0.127 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507634 13q13.1 13 32336967 C G S * 871 871 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241282,pubmed:25394175,ClinVar:RCV000167495 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507634 13q13.1 13 32336967 C A S * 871 871 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077282,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000590670,pubmed:25394175,ClinVar:RCV000213349 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782582 13q13.1 13 32336978 G A V I 875 875 missense 0.025 benign 0.4 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs997313713 13q13.1 13 32336982 A G N S 876 876 missense 0.011 benign 0.2 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637455 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358524 13q13.1 13 32336984 C G P A 877 877 missense 0.69 possibly damaging 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113071,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000556749,pubmed:25394175,ClinVar:RCV000570550 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358524 13q13.1 13 32336984 C T P S 877 877 missense 0.907 possibly damaging 0.47 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167199 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358524 13q13.1 13 32336984 C A P T 877 877 missense 0.875 possibly damaging 0.41 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215829 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs765618026 13q13.1 13 32336988 A G D G 878 878 missense 0.023 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs765618026 13q13.1 13 32336988 A T D V 878 878 missense 0.038 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793412 13q13.1 13 32336991 C G S C 879 879 missense 0.997 probably damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs753266636 13q13.1 13 32336990 T C S P 879 879 missense 0.996 probably damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658648 13q13.1 13 32336996 G T E * 881 881 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256675,pubmed:25394175,ClinVar:RCV000213781 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1284899820 13q13.1 13 32336997 A G E G 881 881 missense 0.885 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000560993 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs757918023 13q13.1 13 32336999 C A L I 882 882 missense 0.747 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282770 13q13.1 13 32337003 T C F S 883 883 missense 0.8 possibly damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575458 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs777421358 13q13.1 13 32337006 C G S * 884 884 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257745,pubmed:25394175,ClinVar:RCV000222044 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs777421358 13q13.1 13 32337006 C A S * 884 884 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241471 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282771 13q13.1 13 32337005 T G S A 884 884 missense 0.003 benign 0.14 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000549818 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs777421358 13q13.1 13 32337006 C T S L 884 884 missense 0.094 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1205280922 13q13.1 13 32337011 A C N H 886 886 missense 0.944 probably damaging 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs80358526 13q13.1 13 32337012 A T N I 886 886 missense 0.105 benign 0.04 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113074 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs80358526 13q13.1 13 32337012 A G N S 886 886 missense 0.044 benign 0.36 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077690,pubmed:25394175,ClinVar:RCV000131954 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659892 13q13.1 13 32337016 G C E D 887 887 missense 0.642 possibly damaging 0.08 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467039 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782015 13q13.1 13 32337015 A G E G 887 887 missense 0.967 probably damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637382,pubmed:25394175,ClinVar:RCV000130441 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658391 13q13.1 13 32337014 G A E K 887 887 missense 0.365 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000796825,pubmed:25394175,ClinVar:RCV000216162 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1020818778 13q13.1 13 32337020 A G N D 889 889 missense 0.046 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282782 13q13.1 13 32337021 A G N S 889 889 missense 0.077 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637362,pubmed:25394175,ClinVar:RCV000509614 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs756951335 13q13.1 13 32337026 G C V L 891 891 missense 0.011 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 ClinVar:RCV000677822,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198310,pubmed:25394175,ClinVar:RCV000575746 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs398122751 13q13.1 13 32337031 C A F L 892 892 missense 0.702 possibly damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282790 13q13.1 13 32337032 C T Q * 893 893 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000559928 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs786203640 13q13.1 13 32337034 A C Q H 893 893 missense 0.644 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174827 13q13.1 13 32337033 A G Q R 893 893 missense 0.977 probably damaging 0.02 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113075 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897715 13q13.1 13 32337035 G A V I 894 894 missense 0.013 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203045 13q13.1 13 32337038 G T A S 895 895 missense 0.061 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166570 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203045 13q13.1 13 32337038 G A A T 895 895 missense 0.009 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239250,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000548524,pubmed:25394175,ClinVar:RCV000166179 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs979372317 COSM946780 13q13.1 13 32337044 G T E * 897 897 stop gained -1.0 unknown -1.0 unknown 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000576646 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs979372317 13q13.1 13 32337044 G A E K 897 897 missense 0.044 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000527929,pubmed:25394175,ClinVar:RCV000777186 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs397507292 13q13.1 13 32337048 G C R T 898 898 missense 0.958 probably damaging 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs564197624 13q13.1 13 32337050 A G N D 899 899 missense 0.918 probably damaging 0.05 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000211046,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637584,pubmed:25394175,ClinVar:RCV000219179 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs55736268 13q13.1 13 32337053 A G N D 900 900 missense 0.258 benign 0.63 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130836 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs55736268 13q13.1 13 32337053 A C N H 900 900 missense 0.819 possibly damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000548310,pubmed:25394175,ClinVar:RCV000568709 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768648043 13q13.1 13 32337059 G C A P 902 902 missense 0.786 possibly damaging 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000802958,pubmed:25394175,ClinVar:RCV000166055 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768648043 13q13.1 13 32337059 G T A S 902 902 missense 0.438 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561800 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs749258007 13q13.1 13 32337060 C T A V 902 902 missense 0.005 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282808 13q13.1 13 32337066 G A G E 904 904 missense 0.072 benign 0.88 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000526570 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881515 13q13.1 13 32337069 A G N S 905 905 missense 0.019 benign 0.39 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000411248,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000541305,pubmed:25394175,ClinVar:RCV000165181 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358528 13q13.1 13 32337071 A G T A 906 906 missense 0.253 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165093 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659600 13q13.1 13 32337074 A G K E 907 907 missense 0.011 benign 0.36 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:23188549,ClinVar:RCV000656469,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000809060,pubmed:25394175,ClinVar:RCV000216812 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202254 13q13.1 13 32337078 A C E A 908 908 missense 0.978 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000792719,pubmed:25394175,ClinVar:RCV000164972 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs876660858 13q13.1 13 32337080 C T L F 909 909 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000819764,pubmed:25394175,ClinVar:RCV000777493 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660858 13q13.1 13 32337080 C A L I 909 909 missense 0.044 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221615 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs760792501 13q13.1 13 32337084 A G H R 910 910 missense 0.243 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000228411,pubmed:25394175,ClinVar:RCV000509934 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282812 13q13.1 13 32337083 C T H Y 910 910 missense 0.015 benign 0.83 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581736 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282813 13q13.1 13 32337089 A G T A 912 912 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs276174828 13q13.1 13 32337090 C T T I 912 912 missense 0.023 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113086,pubmed:25394175,ClinVar:RCV000221941 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs276174828 13q13.1 13 32337090 C G T R 912 912 missense 0.162 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs759767392 13q13.1 13 32337097 G C L F 914 914 missense 0.026 benign 0.35 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202795 13q13.1 13 32337099 C T T I 915 915 missense 0.003 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637429,pubmed:25394175,ClinVar:RCV000509602 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202795 13q13.1 13 32337099 C G T S 915 915 missense 0.001 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476860 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507638 13q13.1 13 32337103 T A C * 916 916 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257471 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282822 13q13.1 13 32337104 G A V I 917 917 missense 0.005 benign 0.24 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000816970 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825298 13q13.1 13 32337110 G A E K 919 919 missense 0.047 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082903,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000231119,pubmed:25394175,ClinVar:RCV000571395 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825298 13q13.1 13 32337110 G C E Q 919 919 missense 0.87 possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510037 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282835 13q13.1 13 32337114 C T P L 920 920 missense 0.059 benign 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000556022 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507293 13q13.1 13 32337113 C T P S 920 920 missense 0.06 benign 0.28 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077693,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122904 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507293 13q13.1 13 32337113 C A P T 920 920 missense 0.098 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031381,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469857,pubmed:25394175,ClinVar:RCV000776350 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282836 13q13.1 13 32337116 A G I V 921 921 missense 0.012 benign 0.63 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581752 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282838 13q13.1 13 32337120 T G F C 922 922 missense 0.694 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583017 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs764749018 13q13.1 13 32337121 C A F L 922 922 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358530 13q13.1 13 32337126 A T N I 924 924 missense 0.956 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113089,pubmed:25394175,ClinVar:RCV000130266 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282841 13q13.1 13 32337132 C T T I 926 926 missense 0.373 benign 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786201837 13q13.1 13 32337134 A G M V 927 927 missense 0.036 benign 0.37 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853564 13q13.1 13 32337142 A T L F 929 929 missense 0.305 benign 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233984 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2227943 13q13.1 13 32337141 T C L S 929 929 missense 0.007 benign 0.02 deleterious 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:227650 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000299643 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825299 13q13.1 13 32337144 A G Y C 930 930 missense 0.003 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082904,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000555804,pubmed:25394175,ClinVar:RCV000573307 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1168540941 13q13.1 13 32337143 T G Y D 930 930 missense 0.0 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000539927 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1168540941 13q13.1 13 32337143 T C Y H 930 930 missense 0.0 benign 0.54 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781685 13q13.1 13 32337147 G C G A 931 931 missense 0.0 benign 0.8 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529554 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781685 13q13.1 13 32337147 G A G E 931 931 missense 0.053 benign 0.83 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129848 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282848 13q13.1 13 32337146 G A G R 931 931 missense 0.071 benign 0.41 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637737 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs879255447 13q13.1 13 32337150 A T D V 932 932 missense 0.99 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239185,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000813921 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174830 13q13.1 13 32337153 C G T R 933 933 missense 0.009 benign 0.13 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077286 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282859 13q13.1 13 32337155 G A G S 934 934 missense 0.038 benign 0.58 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584696 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs749138071 13q13.1 13 32337160 T G D E 935 935 missense 0.101 benign 0.13 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000544316 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282864 13q13.1 13 32337159 A G D G 935 935 missense 0.911 probably damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566429 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897716 13q13.1 13 32337158 G C D H 935 935 missense 0.979 probably damaging 0.11 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113094,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044062 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897716 13q13.1 13 32337158 G A D N 935 935 missense 0.474 possibly damaging 0.1 tolerated 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:114480,MIM:227650 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 ClinVar:RCV000768590,pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000397028 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897716 13q13.1 13 32337158 G T D Y 935 935 missense 0.986 probably damaging 0.01 deleterious 0 Ovarian cancer Ovarian cancer is a disease that affects women. pubmed:22964825,pubmed:24493721,ClinVar:RCV000677849 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786201753 13q13.1 13 32337162 A G K R 936 936 missense 0.085 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706256,pubmed:25394175,ClinVar:RCV000164206 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881516 13q13.1 13 32337165 A C Q P 937 937 missense 0.986 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466542,pubmed:25394175,ClinVar:RCV000509647 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs55773834 13q13.1 13 32337168 C A A E 938 938 missense 0.196 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130944 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768556548 13q13.1 13 32337167 G A A T 938 938 missense 0.196 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574545 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566227305 13q13.1 13 32337170 A G T A 939 939 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701932 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282879 13q13.1 13 32337171 C G T S 939 939 missense 0.015 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575690 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358532 13q13.1 13 32337173 C T Q * 940 940 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031385,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044068,pubmed:25394175,ClinVar:RCV000131103 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1057520249 13q13.1 13 32337174 A G Q R 940 940 missense 0.557 possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122754 13q13.1 13 32337177 T G V G 941 941 missense 0.848 possibly damaging 0.24 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077696,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000692302,pubmed:25394175,ClinVar:RCV000509894 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs863224586 13q13.1 13 32337176 G C V L 941 941 missense 0.079 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568314 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs863224586 13q13.1 13 32337176 G A V M 941 941 missense 0.125 benign 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000199529 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1295799089 13q13.1 13 32337180 C G S * 942 942 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358533 13q13.1 13 32337185 A T K * 944 944 stop gained 0 Ovarian Neoplasms MIM:612555,MIM:114480,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077287,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000044070,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496649,pubmed:25394175,ClinVar:RCV000131101,ClinVar:RCV000785217 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1434920074 13q13.1 13 32337189 A T K I 945 945 missense 0.012 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122755 13q13.1 13 32337190 A C K N 945 945 missense 0.197 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077697,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459511,pubmed:25394175,ClinVar:RCV000213415 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs149753706 13q13.1 13 32337193 T G D E 946 946 missense 0.105 benign 0.21 tolerated 0 Invasive Breast Carcinoma pubmed:25394175,ClinVar:RCV000217163,ClinVar:RCV000677848 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs149753706 13q13.1 13 32337193 T A D E 946 946 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777316 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs55972907 13q13.1 13 32337192 A G D G 946 946 missense 0.065 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132081 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358534 13q13.1 13 32337191 G C D H 946 946 missense 0.967 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113100,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637635,pubmed:25394175,ClinVar:RCV000222307 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358534 13q13.1 13 32337191 G A D N 946 946 missense 0.767 possibly damaging 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs55972907 13q13.1 13 32337192 A T D V 946 946 missense 0.94 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000226769 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358534 13q13.1 13 32337191 G T D Y 946 946 missense 0.978 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637458 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs769971508 13q13.1 13 32337196 G T L F 947 947 missense 0.017 benign 0.53 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574394 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881517 13q13.1 13 32337198 T C V A 948 948 missense 0.452 possibly damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662673,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000542950,pubmed:25394175,ClinVar:RCV000570238 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282901 13q13.1 13 32337197 G A V I 948 948 missense 0.06 benign 0.44 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637414 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040449 13q13.1 13 32337202 T A Y * 949 949 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256804,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462744,pubmed:25394175,ClinVar:RCV000565071 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1328742081 13q13.1 13 32337200 T G Y D 949 949 missense 0.516 possibly damaging 0.26 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs80358535 13q13.1 13 32337204 T A V D 950 950 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs775903570 13q13.1 13 32337203 G A V I 950 950 missense 0.001 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000769689,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238624,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472527,pubmed:25394175,ClinVar:RCV000213594 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358536 13q13.1 13 32337209 G T A S 952 952 missense 0.02 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113107,pubmed:25394175,ClinVar:RCV000773198 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs761934778 13q13.1 13 32337210 C T A V 952 952 missense 0.046 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1478974838 13q13.1 13 32337213 A C E A 953 953 missense 0.281 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282911 13q13.1 13 32337215 G T E * 954 954 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661795 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282915 13q13.1 13 32337216 A G E G 954 954 missense 0.272 benign 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691430 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282911 13q13.1 13 32337215 G A E K 954 954 missense 0.823 possibly damaging 0.72 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502435 13q13.1 13 32337219 A G N S 955 955 missense 0.134 benign 0.29 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476520 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs761350030 13q13.1 13 32337222 A G K R 956 956 missense 0.007 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282918 13q13.1 13 32337225 A G N S 957 957 missense 0.166 benign 0.25 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000799838,pubmed:25394175,ClinVar:RCV000566925 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358537 13q13.1 13 32337227 A G S G 958 958 missense 0.053 benign 0.07 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113109 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282921 13q13.1 13 32337230 G A V I 959 959 missense 0.06 benign 0.7 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659267 13q13.1 13 32337233 A G K E 960 960 missense 0.978 probably damaging 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690730,pubmed:25394175,ClinVar:RCV000216556 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358538 13q13.1 13 32337236 C T Q * 961 961 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077288 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358538 13q13.1 13 32337236 C G Q E 961 961 missense 0.201 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164804 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs755777807 13q13.1 13 32337239 C T H Y 962 962 missense 0.767 possibly damaging 0.53 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000547179,pubmed:25394175,ClinVar:RCV000572022 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587778119 13q13.1 13 32337247 A T K N 964 964 missense 0.794 possibly damaging 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238991,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000557314,pubmed:25394175,ClinVar:RCV000771211 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282929 13q13.1 13 32337250 G C M I 965 965 missense 0.0 benign 0.35 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282927 13q13.1 13 32337248 A G M V 965 965 missense 0.001 benign 0.43 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637340,pubmed:25394175,ClinVar:RCV000568564 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202161 13q13.1 13 32337255 T C L P 967 967 missense 0.017 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637332,pubmed:25394175,ClinVar:RCV000164842 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358539 13q13.1 13 32337254 C G L V 967 967 missense 0.431 benign 0.37 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113111 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038080 13q13.1 13 32337260 C T Q * 969 969 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000240967,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000550373 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs886038080 13q13.1 13 32337260 C A Q K 969 969 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772865 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282933 13q13.1 13 32337261 A G Q R 969 969 missense 0.562 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581262 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507295 13q13.1 13 32337263 G A D N 970 970 missense 0.22 benign 0.14 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 ClinVar:RCV000735533,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031387,ClinVar:RCV000763884,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763884,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763884,ClinVar:RCV000763884,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000196636,pubmed:25394175,ClinVar:RCV000129877,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763884,ClinVar:RCV000763884,ClinVar:RCV000763884,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763884 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507647 13q13.1 13 32337267 T G L * 971 971 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257832 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282936 13q13.1 13 32337266 T A L I 971 971 missense 0.046 benign 0.39 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000534263 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1064794885 13q13.1 13 32337270 A G K R 972 972 missense 0.447 possibly damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000528453,pubmed:25394175,ClinVar:RCV000564626 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs397507296 13q13.1 13 32337273 C A S * 973 973 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241198,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688560,pubmed:25394175,ClinVar:RCV000129596 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP,gnomAD rs397507296 13q13.1 13 32337273 C T S L 973 973 missense 0.015 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165120 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs397507296 13q13.1 13 32337273 C G S W 973 973 missense 0.914 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569352 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs929538989 13q13.1 13 32337277 C G D E 974 974 missense 0.69 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000560988 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs539613324 13q13.1 13 32337275 G A D N 974 974 missense 0.044 benign 0.42 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167943,pubmed:25394175,ClinVar:RCV000132411 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs539613324 13q13.1 13 32337275 G T D Y 974 974 2.0E-4 missense 0.967 probably damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs757213764 13q13.1 13 32337278 A T I F 975 975 missense 0.66 possibly damaging 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000538624,pubmed:25394175,ClinVar:RCV000574427 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs398122756 13q13.1 13 32337279 T A I N 975 975 missense 0.66 possibly damaging 0.46 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000624980 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs398122756 13q13.1 13 32337279 T G I S 975 975 missense 0.086 benign 0.86 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077698,pubmed:25394175,ClinVar:RCV000561550 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs398122756 13q13.1 13 32337279 T C I T 975 975 missense 0.03 benign 0.67 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509793 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs11571656 13q13.1 13 32337282 C T S F 976 976 missense 0.548 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566132 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs144862123 13q13.1 13 32337281 T A S T 976 976 missense 0.974 probably damaging 0.32 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000624981 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs770031354 13q13.1 13 32337286 G C L F 977 977 missense 0.997 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs775890004 13q13.1 13 32337288 A G N S 978 978 missense 0.167 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704535,pubmed:25394175,ClinVar:RCV000216885 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507297 13q13.1 13 32337292 A G I M 979 979 missense 0.724 possibly damaging 0.29 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031389,pubmed:25394175,ClinVar:RCV000772737 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659200 13q13.1 13 32337291 T C I T 979 979 missense 0.281 benign 0.51 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689948,pubmed:25394175,ClinVar:RCV000216516 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1250767974 13q13.1 13 32337294 A G D G 980 980 missense 0.017 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582501 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507298 13q13.1 13 32337293 G T D Y 980 980 missense 0.847 possibly damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031390,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000692326,pubmed:25394175,ClinVar:RCV000129246 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122757 13q13.1 13 32337297 A G K R 981 981 missense 0.007 benign 0.58 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077699,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700243 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122757 13q13.1 13 32337297 A C K T 981 981 missense 0.037 benign 0.59 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs28897717 13q13.1 13 32337299 A C I L 982 982 missense 0.059 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131312 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358541 13q13.1 13 32337301 A G I M 982 982 missense 0.601 possibly damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203664 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781848 13q13.1 13 32337302 C A P T 983 983 missense 0.031 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130152 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507648 13q13.1 13 32337305 G T E * 984 984 stop gained 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577557 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs772755961 13q13.1 13 32337307 A C E D 984 984 missense 0.0 benign 0.43 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs767964776 13q13.1 13 32337306 A G E G 984 984 missense 0.0 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282970 13q13.1 13 32337308 A G K E 985 985 missense 0.539 possibly damaging 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566817 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC rs760142268 13q13.1 13 32337311 A G N D 986 986 missense 0.24 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897718 13q13.1 13 32337312 A T N I 986 986 missense 0.015 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113120,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000703734,pubmed:25394175,ClinVar:RCV000566118 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897718 13q13.1 13 32337312 A G N S 986 986 missense 0.011 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs760142268 13q13.1 13 32337311 A T N Y 986 986 missense 0.674 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218720 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2227944 13q13.1 13 32337315 A T N I 987 987 missense 0.782 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167849 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs2227944 13q13.1 13 32337315 A G N S 987 987 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774969 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876659509 13q13.1 13 32337318 A C D A 988 988 missense 0.841 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218795 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876659509 13q13.1 13 32337318 A G D G 988 988 missense 0.159 benign 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs876659509 13q13.1 13 32337318 A T D V 988 988 missense 0.972 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358542 13q13.1 13 32337320 T G Y D 989 989 missense 0.888 possibly damaging 0.32 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113121 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659910 13q13.1 13 32337324 T A M K 990 990 missense 0.003 benign 0.95 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216946 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660083 13q13.1 13 32337323 A G M V 990 990 missense 0.007 benign 0.71 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000456252,pubmed:25394175,ClinVar:RCV000222852 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1799944 13q13.1 13 32337326 A G N D 991 991 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:114480,MIM:227650,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113122,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000471695,pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000377822,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000320859,pubmed:25394175,ClinVar:RCV000130999 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1410747576 13q13.1 13 32337331 A T K N 992 992 missense 0.777 possibly damaging 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1370517493 13q13.1 13 32337330 A G K R 992 992 missense 0.598 possibly damaging 0.25 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358544 13q13.1 13 32337334 G A W * 993 993 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031393,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203665,pubmed:25394175,ClinVar:RCV000162915 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358543 13q13.1 13 32337333 G A W * 993 993 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113124,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637724 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs587782223 13q13.1 13 32337335 G A A T 994 994 missense 0.013 benign 0.63 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130914 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122758 13q13.1 13 32337336 C T A V 994 994 missense 0.017 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077701,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122905,pubmed:25394175,ClinVar:RCV000165816 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040457 13q13.1 13 32337338 G T G * 995 995 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256489 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507299 13q13.1 13 32337339 G C G A 995 995 missense 0.869 possibly damaging 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031394,pubmed:25394175,ClinVar:RCV000574159 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs397507299 13q13.1 13 32337339 G A G E 995 995 missense 0.642 possibly damaging 0.36 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358545 13q13.1 13 32337342 T G L R 996 996 missense 0.301 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130463 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507649 13q13.1 13 32337345 T A L * 997 997 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661889 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507649 13q13.1 13 32337345 T G L * 997 997 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256883,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000504597 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs777615894 13q13.1 13 32337347 G T G C 998 998 missense 0.641 possibly damaging 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000527086 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs745925418 13q13.1 13 32337348 G A G D 998 998 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs777615894 13q13.1 13 32337347 G C G R 998 998 missense 0.119 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555282999 13q13.1 13 32337353 A C I L 1000 1000 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709306 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587780649 13q13.1 13 32337355 T G I M 1000 1000 missense 0.309 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221373 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs374769365 13q13.1 13 32337354 T C I T 1000 1000 missense 0.062 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130892 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555282999 13q13.1 13 32337353 A G I V 1000 1000 missense 0.0 benign 0.93 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637546 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283001 13q13.1 13 32337357 C G S * 1001 1001 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637719 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs780365246 13q13.1 13 32337359 A G N D 1002 1002 missense 0.005 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs730881518 13q13.1 13 32337360 A C N T 1002 1002 missense 0.096 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000225786,pubmed:25394175,ClinVar:RCV000219400 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs878853565 13q13.1 13 32337362 C G H D 1003 1003 missense 0.761 possibly damaging 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229829,pubmed:25394175,ClinVar:RCV000509749 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283008 13q13.1 13 32337363 A G H R 1003 1003 missense 0.761 possibly damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572549 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122759 13q13.1 13 32337365 A G S G 1004 1004 missense 0.611 possibly damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077702,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000232614,pubmed:25394175,ClinVar:RCV000565814 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283009 13q13.1 13 32337367 T G S R 1004 1004 missense 0.837 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571330 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038083 13q13.1 13 32337371 G T G * 1006 1006 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241529 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038083 13q13.1 13 32337371 G A G R 1006 1006 missense 0.723 possibly damaging 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566227648 13q13.1 13 32337375 G T G V 1007 1007 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691289 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1386536852 13q13.1 13 32337377 A G S G 1008 1008 missense 0.003 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358548 13q13.1 13 32337387 C T T I 1011 1011 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580124 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358548 13q13.1 13 32337387 C G T R 1011 1011 missense 1.0 probably damaging 0.0 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195327,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000148418 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1390034820 13q13.1 13 32337395 A G N D 1014 1014 missense 0.746 possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507652 13q13.1 13 32337398 A T K * 1015 1015 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256630 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1000398743 13q13.1 13 32337399 A C K T 1015 1015 missense 0.959 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs748508287 13q13.1 13 32337401 G T E * 1016 1016 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241181 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037810 13q13.1 13 32337407 A C K Q 1018 1018 missense 0.986 probably damaging 0.01 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240744 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782855 13q13.1 13 32337408 A G K R 1018 1018 missense 0.984 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132464 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1299627822 13q13.1 13 32337411 T C L P 1019 1019 missense 0.014 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55638633 13q13.1 13 32337410 C G L V 1019 1019 missense 0.001 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000162553 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs760179903 13q13.1 13 32337413 T C S P 1020 1020 missense 0.996 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283020 13q13.1 13 32337416 G C E Q 1021 1021 missense 0.202 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571113 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs765882871 13q13.1 13 32337419 C T H Y 1022 1022 missense 0.947 probably damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568287 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs759181823 13q13.1 13 32337424 C A N K 1023 1023 missense 0.457 possibly damaging 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662934,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459905 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs776196396 13q13.1 13 32337423 A G N S 1023 1023 missense 0.356 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637766,pubmed:25394175,ClinVar:RCV000165158 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs776196396 13q13.1 13 32337423 A C N T 1023 1023 missense 0.138 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772738 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs764921920 13q13.1 13 32337426 T A I N 1024 1024 missense 0.956 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545081 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs764921920 13q13.1 13 32337426 T C I T 1024 1024 missense 0.757 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662817,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167880,pubmed:25394175,ClinVar:RCV000564299 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659687 13q13.1 13 32337425 A G I V 1024 1024 missense 0.075 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217862 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358550 13q13.1 13 32337428 A T K * 1025 1025 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031399 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358550 13q13.1 13 32337428 A G K E 1025 1025 missense 0.201 benign 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195367 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358551 13q13.1 13 32337430 G T K N 1025 1025 missense 0.875 possibly damaging 0.07 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113131 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283038 13q13.1 13 32337429 A G K R 1025 1025 missense 0.387 benign 0.09 tolerated 0 Infiltrating duct carcinoma of breast ClinVar:RCV000677838 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358552 13q13.1 13 32337431 A T K * 1026 1026 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113132,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496493 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502380 13q13.1 13 32337432 A G K R 1026 1026 missense 0.999 probably damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474203,pubmed:25394175,ClinVar:RCV000561730 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC rs191744583 13q13.1 13 32337435 G A S N 1027 1027 2.0E-4 missense 0.913 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283043 13q13.1 13 32337439 A C K N 1028 1028 missense 0.994 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561379 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881519 13q13.1 13 32337438 A G K R 1028 1028 missense 0.99 probably damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358553 13q13.1 13 32337440 A C M L 1029 1029 missense 0.017 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358553 13q13.1 13 32337440 A G M V 1029 1029 missense 0.053 benign 0.19 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083096 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs756152752 13q13.1 13 32337445 C G F L 1030 1030 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000687547,pubmed:25394175,ClinVar:RCV000583902 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358554 13q13.1 13 32337443 T G F V 1030 1030 missense 0.003 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077291,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044116,pubmed:25394175,ClinVar:RCV000165765 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358555 13q13.1 13 32337447 T C F S 1031 1031 missense 0.999 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113133 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA rs780279081 COSM3813723 13q13.1 13 32337452 G C D H 1033 1033 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs141702094 13q13.1 13 32337453 A T D V 1033 1033 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474695,pubmed:25394175,ClinVar:RCV000570313 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs545974734 13q13.1 13 32337456 T G I S 1034 1034 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000544883 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs545974734 13q13.1 13 32337456 T C I T 1034 1034 missense 0.999 probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474468,pubmed:25394175,ClinVar:RCV000218639 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs755227053 13q13.1 13 32337455 A G I V 1034 1034 missense 0.997 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220832 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358556 13q13.1 13 32337458 G T E * 1035 1035 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077292,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044119,pubmed:25394175,ClinVar:RCV000131104 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566227803 13q13.1 13 32337459 A G E G 1035 1035 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706668 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502449 13q13.1 13 32337461 G T E * 1036 1036 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661471,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000456163,pubmed:25394175,ClinVar:RCV000567715 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502449 COSM696745 13q13.1 13 32337461 G A E K 1036 1036 missense 0.907 possibly damaging, probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566916 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283053 13q13.1 13 32337462 A T E V 1036 1036 missense 0.936 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573840 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358557 13q13.1 13 32337464 C T Q * 1037 1037 stop gained 1 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031400,ClinVar:RCV000762916,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000762916,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000762916,ClinVar:RCV000762916,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044120,pubmed:25394175,ClinVar:RCV000216711,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000762916,ClinVar:RCV000762916,ClinVar:RCV000762916,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000762916 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358557 13q13.1 13 32337464 C A Q K 1037 1037 missense 0.047 benign 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566227808 13q13.1 13 32337465 A G Q R 1037 1037 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000686068,pubmed:25394175,ClinVar:RCV000775691 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659602 13q13.1 13 32337468 A G Y C 1038 1038 missense 0.979 probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217693 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502423 13q13.1 13 32337467 T C Y H 1038 1038 missense 0.999 probably damaging 0.11 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460299 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs867544010 13q13.1 13 32337471 C A P H 1039 1039 missense 0.989 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562928 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781475 13q13.1 13 32337474 C T T I 1040 1040 missense 0.034 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129423 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658343 13q13.1 13 32337476 A G S G 1041 1041 missense 0.931 probably damaging 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218556 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174832 13q13.1 13 32337477 G A S N 1041 1041 missense 0.55 possibly damaging 0.22 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113136 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174832 13q13.1 13 32337477 G C S T 1041 1041 missense 0.968 probably damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663133,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469157,pubmed:25394175,ClinVar:RCV000773051 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1408500302 13q13.1 13 32337481 A C L F 1042 1042 missense 0.9 possibly damaging 0.05 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000537862 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283059 13q13.1 13 32337483 C G A G 1043 1043 missense 0.012 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000684881,pubmed:25394175,ClinVar:RCV000573287 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1455903281 13q13.1 13 32337482 G T A S 1043 1043 missense 0.06 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509843 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358558 13q13.1 13 32337487 T G C W 1044 1044 missense 0.974 probably damaging 0.07 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113137 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283061 13q13.1 13 32337489 T C V A 1045 1045 missense 0.236 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568190 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358559 13q13.1 13 32337492 A G E G 1046 1046 missense 0.99 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113138,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044123,pubmed:25394175,ClinVar:RCV000129709 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,gnomAD rs772342691 13q13.1 13 32337491 G A E K 1046 1046 missense 0.755 possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358560 13q13.1 13 32337497 G A V I 1048 1048 missense 0.018 benign 0.17 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113139 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283064 13q13.1 13 32337501 A T N I 1049 1049 missense 0.956 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510092 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1010143466 13q13.1 13 32337504 C T T I 1050 1050 missense 0.139 benign 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000543517 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs778281493 13q13.1 13 32337507 T C L S 1051 1051 missense 0.388 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000470166,pubmed:25394175,ClinVar:RCV000571433 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881520 13q13.1 13 32337509 G C A P 1052 1052 missense 0.017 benign 0.51 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881520 13q13.1 13 32337509 G A A T 1052 1052 missense 0.017 benign 0.64 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567319 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502453 13q13.1 13 32337510 C T A V 1052 1052 missense 0.005 benign 0.26 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000468157 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs41293477 13q13.1 13 32337513 T G L * 1053 1053 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031401,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496393,pubmed:25394175,ClinVar:RCV000162916 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793624 13q13.1 13 32337516 A G D G 1054 1054 missense 0.053 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283071 13q13.1 13 32337515 G C D H 1054 1054 missense 0.847 possibly damaging 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000536561 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793384 13q13.1 13 32337520 T G N K 1055 1055 missense 0.106 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580969 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs79728106 13q13.1 13 32337521 C T Q * 1056 1056 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077295,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044134,pubmed:25394175,ClinVar:RCV000223645 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs431825301 13q13.1 13 32337522 A G Q R 1056 1056 missense 0.202 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082906,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000705390,pubmed:25394175,ClinVar:RCV000218077 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566227924 13q13.1 13 32337524 A C K Q 1057 1057 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773389 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358562 13q13.1 13 32337525 A G K R 1057 1057 missense 0.149 benign 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113142,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709307 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881521 13q13.1 13 32337527 A T K * 1058 1058 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000162052,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467920 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs431825302 13q13.1 13 32337528 A G K R 1058 1058 missense 0.575 possibly damaging 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000463297,pubmed:25394175,ClinVar:RCV000565270 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1064793927 13q13.1 13 32337531 T G L R 1059 1059 missense 0.986 probably damaging 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691591,pubmed:25394175,ClinVar:RCV000576066 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203536 13q13.1 13 32337535 C G S R 1060 1060 missense 0.125 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568485 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs776099423 13q13.1 13 32337537 A G K R 1061 1061 missense 0.754 possibly damaging 0.28 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772739 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs564316199 13q13.1 13 32337540 C T P L 1062 1062 2.0E-4 missense 0.031 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs564316199 13q13.1 13 32337540 C G P R 1062 1062 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283083 13q13.1 13 32337539 C T P S 1062 1062 missense 0.142 benign 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637707 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876657678 13q13.1 13 32337542 C T Q * 1063 1063 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257793,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000218286 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs775030825 13q13.1 13 32337543 A T Q L 1063 1063 missense 0.138 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000200320 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs775030825 13q13.1 13 32337543 A C Q P 1063 1063 missense 0.786 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637621,pubmed:25394175,ClinVar:RCV000775945 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs775030825 13q13.1 13 32337543 A G Q R 1063 1063 missense 0.138 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206648,pubmed:25394175,ClinVar:RCV000571902 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622609 COSM946784 13q13.1 13 32337546 C A S * 1064 1064 stop gained -1.0 unknown -1.0 unknown 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661562,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000456624,pubmed:25394175,ClinVar:RCV000570603 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622609 13q13.1 13 32337546 C G S * 1064 1064 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241250,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204433 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825303 13q13.1 13 32337549 T C I T 1065 1065 missense 0.209 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082908,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168025,pubmed:25394175,ClinVar:RCV000132329 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs762752733 13q13.1 13 32337552 A G N S 1066 1066 missense 0.003 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238713,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000536197,pubmed:25394175,ClinVar:RCV000568492 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs786203711 COSM946786 13q13.1 13 32337554 A G T A 1067 1067 missense 0.017 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000699510,pubmed:25394175,ClinVar:RCV000167131 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555283092 13q13.1 13 32337555 C T T I 1067 1067 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774531 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283092 13q13.1 13 32337555 C G T S 1067 1067 missense 0.053 benign 0.26 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000551092 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358563 13q13.1 13 32337561 C T S F 1069 1069 missense 0.508 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113147,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044147,pubmed:25394175,ClinVar:RCV000165150 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs372433502 13q13.1 13 32337563 G T A S 1070 1070 missense 0.03 benign 0.57 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000524688,pubmed:25394175,ClinVar:RCV000166418 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs372433502 13q13.1 13 32337563 G A A T 1070 1070 missense 0.013 benign 0.64 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583270 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358565 13q13.1 13 32337567 A G H R 1071 1071 missense 0.306 benign 0.35 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077297,pubmed:25394175,ClinVar:RCV000220168 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358564 13q13.1 13 32337566 C T H Y 1071 1071 missense 0.001 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572282 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040464 13q13.1 13 32337572 C T Q * 1073 1073 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256685,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000779987,pubmed:25394175,ClinVar:RCV000561567 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358566 13q13.1 13 32337573 A G Q R 1073 1073 missense 0.166 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044150,pubmed:25394175,ClinVar:RCV000129622 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs145605603 13q13.1 13 32337575 A T S C 1074 1074 missense 0.978 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582140 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs145605603 13q13.1 13 32337575 A G S G 1074 1074 missense 0.702 possibly damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575509 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs779228375 13q13.1 13 32337580 T G S R 1075 1075 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502498 13q13.1 13 32337582 T C V A 1076 1076 missense 0.006 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000477400,pubmed:25394175,ClinVar:RCV000564131 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825304 13q13.1 13 32337581 G A V I 1076 1076 missense 0.199 benign 0.28 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082909,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000799401,pubmed:25394175,ClinVar:RCV000222899 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1270386176 13q13.1 13 32337588 T G V G 1078 1078 missense 0.025 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1064794159 13q13.1 13 32337593 G C D H 1080 1080 missense 0.047 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs752871893 13q13.1 13 32337597 G T C F 1081 1081 missense 0.003 benign 0.71 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283117 13q13.1 13 32337596 T C C R 1081 1081 missense 0.015 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509681 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs752871893 13q13.1 13 32337597 G A C Y 1081 1081 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000812619,pubmed:25394175,ClinVar:RCV000579848 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040465 13q13.1 13 32337599 A T K * 1082 1082 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257758,pubmed:25394175,ClinVar:RCV000772136 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358569 13q13.1 13 32337600 A G K R 1082 1082 missense 0.149 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113150,pubmed:25394175,ClinVar:RCV000569193 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs777994248 13q13.1 13 32337602 A G N D 1083 1083 missense 0.757 possibly damaging 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs777994248 13q13.1 13 32337602 A C N H 1083 1083 missense 0.967 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs747462525 13q13.1 13 32337603 A G N S 1083 1083 missense 0.12 benign 0.17 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs369907107 13q13.1 13 32337605 A G S G 1084 1084 missense 0.281 benign 0.29 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs543748012 13q13.1 13 32337606 G A S N 1084 1084 missense 0.007 benign 0.5 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000477381,pubmed:25394175,ClinVar:RCV000773251 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502412 13q13.1 13 32337607 T G S R 1084 1084 missense 0.457 possibly damaging 0.15 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474282 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358570 13q13.1 13 32337609 A C H P 1085 1085 missense 0.602 possibly damaging 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457519 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358570 13q13.1 13 32337609 A G H R 1085 1085 missense 0.255 benign 0.14 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077299 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358571 13q13.1 13 32337611 A G I V 1086 1086 missense 0.026 benign 0.31 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044158,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240692 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283123 13q13.1 13 32337615 C T T I 1087 1087 missense 0.098 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582950 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs775142613 13q13.1 13 32337614 A T T S 1087 1087 missense 0.037 benign 0.29 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358572 13q13.1 13 32337617 C G P A 1088 1088 missense 0.137 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660365 13q13.1 13 32337618 C T P L 1088 1088 missense 0.132 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000703369,pubmed:25394175,ClinVar:RCV000220863 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358572 13q13.1 13 32337617 C T P S 1088 1088 missense 0.009 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129258 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358573 13q13.1 13 32337620 C T Q * 1089 1089 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113153,pubmed:25394175,ClinVar:RCV000509972 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358574 13q13.1 13 32337625 G A M I 1090 1090 missense 0.003 benign 0.41 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358574 13q13.1 13 32337625 G C M I 1090 1090 missense 0.003 benign 0.41 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113155 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs398122760 13q13.1 13 32337623 A G M V 1090 1090 missense 0.006 benign 0.56 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795577 13q13.1 13 32337627 T A L * 1091 1091 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661480 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566228204 COSM3968599 13q13.1 13 32337628 A C L F 1091 1091 missense 0.843 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772368 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566228206 13q13.1 13 32337629 T C F L 1092 1092 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000699591 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs690016539 13q13.1 13 32337635 A T K * 1094 1094 stop gained 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:114480 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241256,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000149512 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs690016539 13q13.1 13 32337635 A C K Q 1094 1094 missense 0.944 probably damaging 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659782 13q13.1 13 32337636 A G K R 1094 1094 missense 0.278 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215681 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507662 13q13.1 13 32337638 C T Q * 1095 1095 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000162053 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283143 13q13.1 13 32337639 A G Q R 1095 1095 missense 0.091 benign 0.36 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637692 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660870 13q13.1 13 32337641 G C D H 1096 1096 missense 0.934 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509961 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660870 13q13.1 13 32337641 G T D Y 1096 1096 missense 0.967 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222462 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507663 13q13.1 13 32337651 C A S * 1099 1099 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241055,pubmed:25394175,ClinVar:RCV000131361 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs397507663 13q13.1 13 32337651 C G S * 1099 1099 stop gained -1.0 unknown -1.0 unknown 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577700 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs397507663 13q13.1 13 32337651 C T S L 1099 1099 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772200 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358575 13q13.1 13 32337654 A T N I 1100 1100 missense 0.8 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203642 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283155 13q13.1 13 32337655 C A N K 1100 1100 missense 0.971 probably damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580709 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs398122761 13q13.1 13 32337657 A G H R 1101 1101 missense 0.438 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129726 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358576 13q13.1 13 32337656 C T H Y 1101 1101 missense 0.019 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113160,pubmed:25394175,ClinVar:RCV000565412 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897719 13q13.1 13 32337659 A C N H 1102 1102 missense 0.978 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165459 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1300305757 13q13.1 13 32337661 T A N K 1102 1102 missense 0.885 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897719 13q13.1 13 32337659 A T N Y 1102 1102 missense 0.607 possibly damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031414 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507305 13q13.1 13 32337663 T G L * 1103 1103 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031415,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000798064 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs773303914 13q13.1 13 32337662 T G L V 1103 1103 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566228273 13q13.1 13 32337666 C T T I 1104 1104 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706587 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358577 13q13.1 13 32337665 A C T P 1104 1104 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083097,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044176,pubmed:25394175,ClinVar:RCV000163592 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660591 13q13.1 13 32337672 G A S N 1106 1106 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216735 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1298550035 13q13.1 13 32337673 C G S R 1106 1106 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580879 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358578 13q13.1 13 32337674 C T Q * 1107 1107 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113162,pubmed:25394175,ClinVar:RCV000162918 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507306 13q13.1 13 32337676 A C Q H 1107 1107 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031416,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000794728,pubmed:25394175,ClinVar:RCV000131343 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283169 13q13.1 13 32337677 A T K * 1108 1108 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661689,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000504611 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283170 13q13.1 13 32337679 G T K N 1108 1108 missense 0.913 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572293 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs765232270 13q13.1 13 32337678 A C K T 1108 1108 missense 0.486 possibly damaging 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637783 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs752886421 13q13.1 13 32337680 G T A S 1109 1109 missense 0.96 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs752886421 13q13.1 13 32337680 G A A T 1109 1109 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773764 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs41293479 13q13.1 13 32337681 C T A V 1109 1109 missense 0.979 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129186 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283173 13q13.1 13 32337683 G T E * 1110 1110 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000502627 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782072 13q13.1 13 32337684 A C E A 1110 1110 missense 0.99 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204123,pubmed:25394175,ClinVar:RCV000570799 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,NCI-TCGA,dbSNP,gnomAD rs369294255 13q13.1 13 32337685 A C E D 1110 1110 1.9999999494757503E-4 missense 0.8565 possibly damaging, probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239030,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000816307,pubmed:25394175,ClinVar:RCV000580365 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782072 13q13.1 13 32337684 A G E G 1110 1110 missense 0.994 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233349 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782072 13q13.1 13 32337684 A T E V 1110 1110 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637374,pubmed:25394175,ClinVar:RCV000130562 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs878853566 13q13.1 13 32337688 T G I M 1111 1111 missense 0.956 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1482364471 13q13.1 13 32337692 G A E K 1113 1113 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1468014859 13q13.1 13 32337695 C T L F 1114 1114 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000816799,pubmed:25394175,ClinVar:RCV000580856 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs879255448 13q13.1 13 32337699 C G S C 1115 1115 missense 0.985 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239210,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637640,pubmed:25394175,ClinVar:RCV000572645 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs879255448 13q13.1 13 32337699 C T S F 1115 1115 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1204868565 13q13.1 13 32337698 T C S P 1115 1115 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567148 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786204212 13q13.1 13 32337701 A G T A 1116 1116 missense 0.372 benign 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168327 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs786204212 13q13.1 13 32337701 A C T P 1116 1116 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773034 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs786204212 13q13.1 13 32337701 A T T S 1116 1116 missense 0.259 benign 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881522 13q13.1 13 32337706 A G I M 1117 1117 missense 0.58 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198631,pubmed:25394175,ClinVar:RCV000165224 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs558973276 13q13.1 13 32337705 T C I T 1117 1117 2.0E-4 missense 0.969 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507307 13q13.1 13 32337704 A G I V 1117 1117 missense 0.771 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031418,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688673,pubmed:25394175,ClinVar:RCV000772028 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1176430263 13q13.1 13 32337712 A C E D 1119 1119 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587778124 13q13.1 13 32337713 G C E Q 1120 1120 missense 0.91 probably damaging 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000465787 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358579 13q13.1 13 32337717 C A S * 1121 1121 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113165,pubmed:25394175,ClinVar:RCV000131099 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358579 13q13.1 13 32337717 C G S * 1121 1121 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077302,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000504065,pubmed:25394175,ClinVar:RCV000131100 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283195 13q13.1 13 32337716 T C S P 1121 1121 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509852 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs532871047 13q13.1 13 32337720 G A G E 1122 1122 2.0E-4 missense 0.943 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358581 13q13.1 13 32337722 A G S G 1123 1123 missense 0.986 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113166 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283202 13q13.1 13 32337723 G A S N 1123 1123 missense 0.994 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572509 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283202 13q13.1 13 32337723 G C S T 1123 1123 missense 0.832 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706802,pubmed:25394175,ClinVar:RCV000581024 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283204 13q13.1 13 32337726 A G Q R 1124 1124 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582305 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283206 13q13.1 13 32337731 G T E * 1126 1126 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566228395 13q13.1 13 32337734 T C F L 1127 1127 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777126 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs730881523 13q13.1 13 32337737 A G T A 1128 1128 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205030,pubmed:25394175,ClinVar:RCV000215811 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202970 13q13.1 13 32337738 C T T I 1128 1128 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166058 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs730881523 13q13.1 13 32337737 A T T S 1128 1128 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000552725 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283209 13q13.1 13 32337740 C T Q * 1129 1129 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000587755 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283211 13q13.1 13 32337742 G T Q H 1129 1129 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569133 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283214 13q13.1 13 32337747 G A R K 1131 1131 missense 0.975 probably damaging 0.22 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000678992 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1801406 13q13.1 13 32337751 A C K N 1132 1132 missense 0.999 probably damaging 0.04 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113169 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358582 13q13.1 13 32337750 A G K R 1132 1132 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031419,pubmed:25394175,ClinVar:RCV000218723 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1170876773 13q13.1 13 32337753 C T P L 1133 1133 missense 0.139 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565144 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786202430 13q13.1 13 32337752 C T P S 1133 1133 missense 0.637 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000227293,pubmed:25394175,ClinVar:RCV000165239 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122764 13q13.1 13 32337756 G C S T 1134 1134 missense 0.059 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132468 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659258 13q13.1 13 32337760 C A Y * 1135 1135 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256734,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545754,pubmed:25394175,ClinVar:RCV000216708 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358583 13q13.1 13 32337758 T G Y D 1135 1135 missense 0.274 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358583 13q13.1 13 32337758 T C Y H 1135 1135 missense 0.003 benign 1.0 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113171 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876658683 13q13.1 13 32337761 A G I V 1136 1136 missense 0.02 benign 0.46 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460858,pubmed:25394175,ClinVar:RCV000218123 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1054724641 13q13.1 13 32337764 T A L M 1137 1137 missense 0.087 benign 0.23 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637336 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283225 13q13.1 13 32337765 T C L S 1137 1137 missense 0.098 benign 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000556877 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782613 13q13.1 13 32337767 C T Q * 1138 1138 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241121,pubmed:25394175,ClinVar:RCV000131988 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358584 13q13.1 13 32337768 A T Q L 1138 1138 missense 0.535 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113173,pubmed:25394175,ClinVar:RCV000509872 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs747903103 13q13.1 13 32337770 A G K E 1139 1139 missense 0.061 benign 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs145625991 COSM946790 13q13.1 13 32337772 G T K N 1139 1139 missense 0.001 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000823718 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs747903103 13q13.1 13 32337770 A C K Q 1139 1139 missense 0.239 benign 0.08 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:227650,MIM:604370 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000293210,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000350466 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358585 13q13.1 13 32337774 G A S N 1140 1140 missense 0.0 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704802 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358585 13q13.1 13 32337774 G C S T 1140 1140 missense 0.023 benign 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113174 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507308 13q13.1 13 32337777 C T T I 1141 1141 missense 0.031 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031420,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000200443,pubmed:25394175,ClinVar:RCV000579950 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs760681272 13q13.1 13 32337781 T A F L 1142 1142 missense 0.005 benign 0.82 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568806 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1316176181 13q13.1 13 32337782 G A E K 1143 1143 missense 0.167 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358587 13q13.1 13 32337786 T G V G 1144 1144 missense 0.018 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129914 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1274123258 13q13.1 13 32337785 G A V M 1144 1144 missense 0.258 benign 0.36 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283232 13q13.1 13 32337788 C G P A 1145 1145 missense 0.886 possibly damaging 0.4 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574369 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1237049560 13q13.1 13 32337791 G T E * 1146 1146 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000780006 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358588 13q13.1 13 32337792 A G E G 1146 1146 missense 0.003 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031421,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044192,pubmed:25394175,ClinVar:RCV000129732 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358588 13q13.1 13 32337792 A T E V 1146 1146 missense 0.211 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000210959,pubmed:25394175,ClinVar:RCV000568644 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1799951 13q13.1 13 32337795 A G N S 1147 1147 missense 0.808 possibly damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507667 13q13.1 13 32337797 C T Q * 1148 1148 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256705 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283240 13q13.1 13 32337799 G C Q H 1148 1148 missense 0.885 possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582591 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs200808363 13q13.1 13 32337798 A G Q R 1148 1148 missense 0.462 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031422,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467374,pubmed:25394175,ClinVar:RCV000222474 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876660471 13q13.1 13 32337802 G A M I 1149 1149 missense 0.003 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696715,pubmed:25394175,ClinVar:RCV000221868 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358590 13q13.1 13 32337801 T C M T 1149 1149 missense 0.003 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113177,pubmed:25394175,ClinVar:RCV000213389 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358589 13q13.1 13 32337800 A G M V 1149 1149 missense 0.0 benign 0.26 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077303 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881524 13q13.1 13 32337804 C G T S 1150 1150 missense 0.049 benign 0.24 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358591 13q13.1 13 32337806 A T I F 1151 1151 missense 0.187 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358591 13q13.1 13 32337806 A C I L 1151 1151 missense 0.001 benign 0.36 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358592 13q13.1 13 32337808 C G I M 1151 1151 missense 0.35 benign 0.07 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031423 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358591 13q13.1 13 32337806 A G I V 1151 1151 missense 0.001 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113178,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044197,pubmed:25394175,ClinVar:RCV000214609 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358593 13q13.1 13 32337810 T A L * 1152 1152 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257866,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691010,pubmed:25394175,ClinVar:RCV000215781 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358593 13q13.1 13 32337810 T G L * 1152 1152 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113180,pubmed:25394175,ClinVar:RCV000509646 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358594 13q13.1 13 32337813 A G K R 1153 1153 missense 0.009 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129509 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283255 13q13.1 13 32337815 A G T A 1154 1154 missense 0.025 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572739 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202212 13q13.1 13 32337816 C T T I 1154 1154 missense 0.122 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164925 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555283257 13q13.1 13 32337818 A G T A 1155 1155 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000803792,pubmed:25394175,ClinVar:RCV000776847 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283257 13q13.1 13 32337818 A C T P 1155 1155 missense 0.267 benign 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637456 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1406283407 13q13.1 13 32337819 C G T S 1155 1155 missense 0.073 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509891 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs778371076 13q13.1 13 32337822 C T S F 1156 1156 missense 0.32 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358595 13q13.1 13 32337824 G T E * 1157 1157 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113183 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs747803130 13q13.1 13 32337826 G C E D 1157 1157 missense 0.104 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566228642 13q13.1 13 32337825 A T E V 1157 1157 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037808 13q13.1 13 32337828 A G E G 1158 1158 missense 0.076 benign 0.18 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240736 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283258 13q13.1 13 32337827 G A E K 1158 1158 missense 0.076 benign 0.14 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637537 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825307 13q13.1 13 32337832 C A C * 1159 1159 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082912 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs886037814 13q13.1 13 32337830 T G C G 1159 1159 missense 0.015 benign 0.11 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000537173,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240718 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs886037814 13q13.1 13 32337830 T C C R 1159 1159 missense 0.0 benign 0.2 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637617 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs183920365 13q13.1 13 32337834 G A R K 1160 1160 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000210809 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502458 13q13.1 13 32337837 A G D G 1161 1161 missense 0.058 benign 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469662 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283261 13q13.1 13 32337836 G A D N 1161 1161 missense 0.134 benign 0.05 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637777 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs587778122 13q13.1 13 32337840 C G A G 1162 1162 missense 0.007 benign 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853570 13q13.1 13 32337839 G A A T 1162 1162 missense 0.041 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229011,pubmed:25394175,ClinVar:RCV000583068 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587778122 13q13.1 13 32337840 C T A V 1162 1162 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773046 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283263 13q13.1 13 32337844 T A D E 1163 1163 missense 0.077 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509700 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs746847103 13q13.1 13 32337846 T A L H 1164 1164 missense 0.978 probably damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782201 13q13.1 13 32337849 A T H L 1165 1165 missense 0.234 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509760 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782201 13q13.1 13 32337849 A G H R 1165 1165 missense 0.234 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130862 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs762886975 13q13.1 13 32337852 T C V A 1166 1166 missense 0.001 benign 0.79 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581934 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs762886975 13q13.1 13 32337852 T A V D 1166 1166 missense 0.124 benign 0.64 tolerated 0 Hereditary cancer-predisposing syndrome MIM:227650,MIM:604370 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000309640,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000366646,pubmed:25394175,ClinVar:RCV000166339 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358596 13q13.1 13 32337851 G A V I 1166 1166 missense 0.037 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113184,pubmed:25394175,ClinVar:RCV000509836 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs276174834 13q13.1 13 32337854 A G I V 1167 1167 missense 0.001 benign 0.63 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113185 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283267 13q13.1 13 32337859 G T M I 1168 1168 missense 0.0 benign 1.0 tolerated 1 Metastatic pancreatic neuroendocrine tumours ClinVar:RCV000515524 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358598 13q13.1 13 32337858 T A M K 1168 1168 missense 0.062 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083099,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044210,pubmed:25394175,ClinVar:RCV000163591 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358598 13q13.1 13 32337858 T C M T 1168 1168 missense 0.0 benign 0.63 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000526728,pubmed:25394175,ClinVar:RCV000571371 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1194031580 13q13.1 13 32337861 A G N S 1169 1169 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000705467 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1194031580 13q13.1 13 32337861 A C N T 1169 1169 missense 0.535 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358599 13q13.1 13 32337864 C T A V 1170 1170 missense 0.098 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217936 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566228707 13q13.1 13 32337867 C T P L 1171 1171 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358600 13q13.1 13 32337870 C A S * 1172 1172 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661679,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460996 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358600 COSM98292 13q13.1 13 32337870 C T S L 1172 1172 7.999999797903001E-4 missense 0.519 benign, probably damaging 0.11 tolerated 0 Breast cancer (BC) A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358600 13q13.1 13 32337870 C G S W 1172 1172 missense 0.995 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077305,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044212,pubmed:25394175,ClinVar:RCV000222703 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs431825308 13q13.1 13 32337872 A T I F 1173 1173 missense 0.726 possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082914,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637509,pubmed:25394175,ClinVar:RCV000562261 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122767 13q13.1 13 32337873 T C I T 1173 1173 missense 0.03 benign 0.61 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077710,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697710,pubmed:25394175,ClinVar:RCV000130564 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs431825308 13q13.1 13 32337872 A G I V 1173 1173 missense 0.013 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000540104 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283272 13q13.1 13 32337876 G A G D 1174 1174 missense 0.017 benign 0.64 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637583,pubmed:25394175,ClinVar:RCV000561139 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040480 13q13.1 13 32337878 C T Q * 1175 1175 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257840 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358602 13q13.1 13 32337881 G A V I 1176 1176 missense 0.044 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113189,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637690,pubmed:25394175,ClinVar:RCV000221053 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs761130568 13q13.1 13 32337885 A C D A 1177 1177 missense 0.35 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502397 13q13.1 13 32337884 G A D N 1177 1177 missense 0.019 benign 0.18 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000468498 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs41293481 13q13.1 13 32337887 A G S G 1178 1178 missense 0.053 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164836 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507674 13q13.1 13 32337891 G A S N 1179 1179 missense 0.034 benign 0.16 tolerated 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577288 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs864622363 13q13.1 13 32337895 G C K N 1180 1180 missense 0.913 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206612,pubmed:25394175,ClinVar:RCV000220199 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs28897720 13q13.1 13 32337894 A G K R 1180 1180 missense 0.149 benign 0.27 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077307,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044217 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566228768 13q13.1 13 32337902 G C E Q 1183 1183 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000708681 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825309 13q13.1 13 32337906 G C G A 1184 1184 missense 0.45 possibly damaging 0.25 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082915,pubmed:25394175,ClinVar:RCV000166576 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202485 13q13.1 13 32337908 A G T A 1185 1185 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000686649,pubmed:25394175,ClinVar:RCV000165322 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs754382544 13q13.1 13 32337912 T C V A 1186 1186 missense 0.03 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782420 13q13.1 13 32337911 G A V I 1186 1186 missense 0.03 benign 0.39 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168159,pubmed:25394175,ClinVar:RCV000131471 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs202230438 13q13.1 13 32337917 A G I V 1188 1188 missense 0.001 benign 0.42 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132042 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358605 13q13.1 13 32337924 G A R Q 1190 1190 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130051 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358604 COSM459295 13q13.1 13 32337923 C T R W 1190 1190 missense 0.54 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113191,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044223 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283292 13q13.1 13 32337927 A G K R 1191 1191 missense 0.966 probably damaging 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570876 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358606 COSM279198 13q13.1 13 32337930 T G F C 1192 1192 missense 0.959 probably damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs431825310 13q13.1 13 32337933 C G A G 1193 1193 missense 0.46 possibly damaging 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283297 13q13.1 13 32337932 G A A T 1193 1193 missense 0.042 benign 0.17 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000539752 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs431825310 13q13.1 13 32337933 C T A V 1193 1193 missense 0.543 possibly damaging 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs28897721 13q13.1 13 32337936 G A G D 1194 1194 missense 0.187 benign 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077309,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044227 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853571 13q13.1 13 32337938 C A L M 1195 1195 missense 0.979 probably damaging 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000234717 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1449762196 13q13.1 13 32337941 T A L M 1196 1196 missense 0.335 benign 0.12 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000554658 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1309043028 13q13.1 13 32337944 A C K Q 1197 1197 missense 0.037 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs780927790 13q13.1 13 32337948 A G N S 1198 1198 missense 0.015 benign 0.42 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581441 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502404 13q13.1 13 32337950 G A D N 1199 1199 missense 0.001 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476241 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502404 13q13.1 13 32337950 G T D Y 1199 1199 missense 0.015 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567282 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358607 13q13.1 13 32337953 T G C G 1200 1200 missense 0.236 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774657 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358607 13q13.1 13 32337953 T A C S 1200 1200 missense 0.037 benign 0.27 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113194 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283305 13q13.1 13 32337954 G A C Y 1200 1200 missense 0.359 benign 0.19 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000532807 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1445190497 13q13.1 13 32337960 A C K T 1202 1202 missense 0.71 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC rs745817393 13q13.1 13 32337963 G T S I 1203 1203 missense 0.988 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC rs745817393 13q13.1 13 32337963 G A S N 1203 1203 missense 0.493 possibly damaging 0.39 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1490767697 13q13.1 13 32337964 T G S R 1203 1203 missense 0.71 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC rs745817393 13q13.1 13 32337963 G C S T 1203 1203 missense 0.621 possibly damaging 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283309 13q13.1 13 32337965 G T A S 1204 1204 missense 0.272 benign 0.21 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637609 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566228843 13q13.1 13 32337966 C T A V 1204 1204 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691212 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1410689747 13q13.1 13 32337972 G A G D 1206 1206 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1410689747 13q13.1 13 32337972 G T G V 1206 1206 missense 0.316 benign 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507310 13q13.1 13 32337975 A G Y C 1207 1207 missense 0.037 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031429,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000557673,pubmed:25394175,ClinVar:RCV000569223 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358608 13q13.1 13 32337977 T A L I 1208 1208 missense 0.98 probably damaging 0.08 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113198 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283314 13q13.1 13 32337978 T C L S 1208 1208 missense 0.996 probably damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563419 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs397507311 13q13.1 13 32337984 A C D A 1210 1210 2.0E-4 missense 0.209 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202991 13q13.1 13 32337985 T G D E 1210 1210 missense 0.098 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000461988,pubmed:25394175,ClinVar:RCV000775808 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs774392592 13q13.1 13 32337983 G A D N 1210 1210 missense 0.012 benign 0.43 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220676 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs397507311 13q13.1 13 32337984 A T D V 1210 1210 missense 0.481 possibly damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040486 13q13.1 13 32337986 G T E * 1211 1211 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256490 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358609 13q13.1 13 32337990 A T N I 1212 1212 missense 0.602 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113199,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044232,pubmed:25394175,ClinVar:RCV000166119 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555283324 13q13.1 13 32337991 T G N K 1212 1212 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696502,pubmed:25394175,ClinVar:RCV000773895 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566228876 13q13.1 13 32337992 G T E * 1213 1213 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691926 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1303026901 13q13.1 13 32337994 A T E D 1213 1213 missense 0.366 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566228880 13q13.1 13 32337993 A G E G 1213 1213 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773512 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1015087797 13q13.1 13 32337995 G A V M 1214 1214 missense 0.835 possibly damaging 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637555,pubmed:25394175,ClinVar:RCV000510016 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs773442698 13q13.1 13 32337999 G A G E 1215 1215 missense 0.0 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000556462 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1366773950 13q13.1 13 32337998 G A G R 1215 1215 missense 0.038 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772219 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1306577496 13q13.1 13 32338005 G A R K 1217 1217 missense 0.087 benign 0.63 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1410046826 13q13.1 13 32338004 A T R W 1217 1217 missense 0.96 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772440 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879254128 13q13.1 13 32338008 G C G A 1218 1218 missense 0.996 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358610 13q13.1 13 32338010 T C F L 1219 1219 missense 0.746 possibly damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113202 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283341 13q13.1 13 32338011 T C F S 1219 1219 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582706 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358610 13q13.1 13 32338010 T G F V 1219 1219 missense 0.98 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000702274,pubmed:25394175,ClinVar:RCV000581561 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566228915 13q13.1 13 32338014 A G Y C 1220 1220 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690016 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs397507312 13q13.1 13 32338013 T C Y H 1220 1220 missense 0.983 probably damaging 0.41 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358611 13q13.1 13 32338016 T C S P 1221 1221 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507313 13q13.1 13 32338017 C A S Y 1221 1221 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031432,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000698137,pubmed:25394175,ClinVar:RCV000772742 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC rs760071561 13q13.1 13 32338020 C G A G 1222 1222 missense 0.101 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283343 13q13.1 13 32338019 G T A S 1222 1222 missense 0.474 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572943 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122768 13q13.1 13 32338023 A G H R 1223 1223 missense 0.001 benign 0.97 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077712,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000800645 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP,gnomAD rs786203756 13q13.1 13 32338022 C T H Y 1223 1223 missense 0.225 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000412156,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000535786,pubmed:25394175,ClinVar:RCV000167201 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782670 13q13.1 13 32338026 G T G V 1224 1224 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000703489,pubmed:25394175,ClinVar:RCV000132093 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1490822985 13q13.1 13 32338029 C T T I 1225 1225 missense 0.007 benign 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358612 13q13.1 13 32338032 A T K I 1226 1226 missense 0.994 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113205,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044240,pubmed:25394175,ClinVar:RCV000165157 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881525 13q13.1 13 32338031 A C K Q 1226 1226 missense 0.986 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566228950 13q13.1 13 32338034 C G L V 1227 1227 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000771765 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs28897722 13q13.1 13 32338037 A G N D 1228 1228 missense 0.037 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000163003 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202838 13q13.1 13 32338038 A G N S 1228 1228 missense 0.02 benign 0.5 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165858 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203538 13q13.1 13 32338040 G A V I 1229 1229 missense 0.108 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166889 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659979 13q13.1 13 32338043 T G S A 1230 1230 missense 0.953 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223339 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555283363 13q13.1 13 32338046 A G T A 1231 1231 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000685084 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283363 13q13.1 13 32338046 A T T S 1231 1231 missense 0.001 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573243 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs756931386 13q13.1 13 32338050 A G E G 1232 1232 missense 0.575 possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358613 13q13.1 13 32338052 G A A T 1233 1233 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113208,pubmed:25394175,ClinVar:RCV000773261 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs745700206 13q13.1 13 32338053 C T A V 1233 1233 missense 0.999 probably damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000473952,pubmed:25394175,ClinVar:RCV000214873 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825311 13q13.1 13 32338055 C A L M 1234 1234 missense 0.477 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082918,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000809862,pubmed:25394175,ClinVar:RCV000570982 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283366 13q13.1 13 32338058 C T Q * 1235 1235 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000781127 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502424 13q13.1 13 32338059 A G Q R 1235 1235 missense 0.557 possibly damaging 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467120 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283367 13q13.1 13 32338061 A G K E 1236 1236 missense 0.673 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564778 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122770 13q13.1 13 32338064 G C A P 1237 1237 missense 0.331 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077714,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205458,pubmed:25394175,ClinVar:RCV000776156 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229025 13q13.1 13 32338068 T C V A 1238 1238 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777140 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794685 13q13.1 13 32338067 G A V M 1238 1238 missense 0.085 benign 0.62 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs374191973 13q13.1 13 32338070 A G K E 1239 1239 missense 0.673 possibly damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144184 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,gnomAD rs141196976 13q13.1 13 32338072 A C K N 1239 1239 missense 0.986 probably damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782723 13q13.1 13 32338078 T G F L 1241 1241 missense 0.135 benign 0.0 deleterious 0 Prostate neoplasm MIM:604370,MIM:176807 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471263,pubmed:25394175,ClinVar:RCV000132213,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000414919,ClinVar:RCV000414919 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283378 13q13.1 13 32338080 G A S N 1242 1242 missense 0.81 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584216 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1224971607 13q13.1 13 32338081 T G S R 1242 1242 missense 0.387 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881526 13q13.1 13 32338086 T C I T 1244 1244 missense 0.084 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000824375,pubmed:25394175,ClinVar:RCV000165364 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202091 13q13.1 13 32338085 A G I V 1244 1244 missense 0.412 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164731 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660679 13q13.1 13 32338092 A T N I 1246 1246 missense 0.167 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217516 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660679 13q13.1 13 32338092 A C N T 1246 1246 missense 0.341 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565053 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283383 13q13.1 13 32338098 G T S I 1248 1248 missense 0.478 possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358614 13q13.1 13 32338097 A C S R 1248 1248 missense 0.735 possibly damaging 0.1 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113212 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1348655194 13q13.1 13 32338100 G A E K 1249 1249 missense 0.646 possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358615 13q13.1 13 32338103 G T E * 1250 1250 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113213 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs56400215 13q13.1 13 32338104 A G E G 1250 1250 missense 0.2 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129769 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358615 13q13.1 13 32338103 G A E K 1250 1250 missense 0.12 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221215 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs56400215 13q13.1 13 32338104 A T E V 1250 1250 missense 0.875 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000824172,pubmed:25394175,ClinVar:RCV000583002 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283384 13q13.1 13 32338107 C T T I 1251 1251 missense 0.937 probably damaging 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000552237 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1361496246 13q13.1 13 32338110 C T S F 1252 1252 missense 0.66 possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1361496246 13q13.1 13 32338110 C A S Y 1252 1252 missense 0.193 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000525829,pubmed:25394175,ClinVar:RCV000777180 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1226138707 13q13.1 13 32338112 G A A T 1253 1253 missense 0.007 benign 0.39 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881527 13q13.1 13 32338113 C T A V 1253 1253 missense 0.023 benign 0.21 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238817 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs777028631 13q13.1 13 32338117 G T E D 1254 1254 missense 0.076 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000555263,pubmed:25394175,ClinVar:RCV000574577 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs771112270 13q13.1 13 32338115 G A E K 1254 1254 missense 0.043 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358617 13q13.1 13 32338118 G T V L 1255 1255 missense 0.328 benign 0.26 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077312 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358618 13q13.1 13 32338122 A C H P 1256 1256 missense 0.095 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113216,pubmed:25394175,ClinVar:RCV000561816 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229121 13q13.1 13 32338123 T A H Q 1256 1256 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000692959 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358618 13q13.1 13 32338122 A G H R 1256 1256 missense 0.071 benign 0.04 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113217 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502438 13q13.1 13 32338124 C G P A 1257 1257 missense 0.018 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581880 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782581 13q13.1 13 32338125 C T P L 1257 1257 missense 0.343 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131915 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502438 13q13.1 13 32338124 C T P S 1257 1257 missense 0.031 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509907 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502438 13q13.1 13 32338124 C A P T 1257 1257 missense 0.034 benign 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466270 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs776157715 13q13.1 13 32338128 T A I K 1258 1258 missense 0.005 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs776157715 13q13.1 13 32338128 T G I R 1258 1258 missense 0.001 benign 0.8 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637471 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782720 13q13.1 13 32338127 A G I V 1258 1258 missense 0.033 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000465587,pubmed:25394175,ClinVar:RCV000132209 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs762488820 13q13.1 13 32338131 G A S N 1259 1259 missense 0.026 benign 0.16 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700054 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs587782071 13q13.1 13 32338130 A C S R 1259 1259 missense 0.105 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130561 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555283397 13q13.1 13 32338134 T A L * 1260 1260 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000702361 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283397 13q13.1 13 32338134 T G L * 1260 1260 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663247 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174836 13q13.1 13 32338137 C G S C 1261 1261 missense 0.222 benign 0.13 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113218 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358620 13q13.1 13 32338140 C G S * 1262 1262 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113219,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044266,pubmed:25394175,ClinVar:RCV000129108 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358620 13q13.1 13 32338140 C T S L 1262 1262 missense 0.852 possibly damaging 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283398 13q13.1 13 32338143 G A S N 1263 1263 missense 0.138 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701605,pubmed:25394175,ClinVar:RCV000566753 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507315 13q13.1 13 32338149 G T C F 1265 1265 missense 0.005 benign 0.4 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131347 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs797044976 13q13.1 13 32338148 T A C S 1265 1265 missense 0.015 benign 0.38 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283399 13q13.1 13 32338152 A T H L 1266 1266 missense 0.098 benign 0.27 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000533420 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229153 13q13.1 13 32338151 C T H Y 1266 1266 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283400 13q13.1 13 32338155 A G D G 1267 1267 missense 0.615 possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700360,pubmed:25394175,ClinVar:RCV000574675 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1191600785 13q13.1 13 32338154 G A D N 1267 1267 missense 0.106 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659620 13q13.1 13 32338158 C T S F 1268 1268 missense 0.978 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000823187,pubmed:25394175,ClinVar:RCV000213953 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs751092504 13q13.1 13 32338157 T A S T 1268 1268 missense 0.82 possibly damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583146 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs756912276 13q13.1 13 32338160 G T V F 1269 1269 missense 0.071 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283403 13q13.1 13 32338164 T C V A 1270 1270 missense 0.098 benign 0.36 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637650 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658938 13q13.1 13 32338163 G T V F 1270 1270 missense 0.861 possibly damaging 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563060 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658938 13q13.1 13 32338163 G A V I 1270 1270 missense 0.167 benign 0.08 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000763885,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763885,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763885,ClinVar:RCV000763885,pubmed:25394175,ClinVar:RCV000221459,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763885,ClinVar:RCV000763885,ClinVar:RCV000763885,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763885 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358623 13q13.1 13 32338167 C G S * 1271 1271 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256517 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358623 13q13.1 13 32338167 C A S * 1271 1271 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113222 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1157751493 13q13.1 13 32338166 T C S P 1271 1271 missense 0.999 probably damaging 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1469541725 13q13.1 13 32338171 G A M I 1272 1272 missense 0.0 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558285 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358624 13q13.1 13 32338169 A G M V 1272 1272 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130732 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1337434023 13q13.1 13 32338176 A G K R 1274 1274 missense 0.359 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358625 13q13.1 13 32338179 T C I T 1275 1275 missense 0.167 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083101,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044272,pubmed:25394175,ClinVar:RCV000132466 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853575 13q13.1 13 32338181 G A E K 1276 1276 missense 0.747 possibly damaging 0.5 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000546808,pubmed:25394175,ClinVar:RCV000563847 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853575 13q13.1 13 32338181 G C E Q 1276 1276 missense 0.994 probably damaging 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000231554 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502487 13q13.1 13 32338182 A T E V 1276 1276 missense 0.996 probably damaging 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466876 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255303 13q13.1 13 32338186 T G N K 1277 1277 missense 0.196 benign 0.16 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239141 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283417 13q13.1 13 32338187 C A H N 1278 1278 missense 0.096 benign 0.4 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000803223,pubmed:25394175,ClinVar:RCV000568189 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229217 13q13.1 13 32338188 A G H R 1278 1278 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358626 13q13.1 13 32338190 A G N D 1279 1279 missense 0.025 benign 0.03 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077314,ClinVar:RCV000763886,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763886,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763886,ClinVar:RCV000763886,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709309,pubmed:25394175,ClinVar:RCV000130851,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763886,ClinVar:RCV000763886,ClinVar:RCV000763886,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763886 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502384 13q13.1 13 32338191 A G N S 1279 1279 missense 0.043 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474984,pubmed:25394175,ClinVar:RCV000509695 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs56337919 13q13.1 13 32338194 A T D V 1280 1280 missense 0.037 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077315,pubmed:25394175,ClinVar:RCV000162783 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283423 13q13.1 13 32338200 C T T I 1282 1282 missense 0.003 benign 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000624982 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358628 13q13.1 13 32338203 T C V A 1283 1283 missense 0.187 benign 0.32 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509623 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358628 13q13.1 13 32338203 T G V G 1283 1283 missense 0.519 possibly damaging 0.2 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113224 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs754974533 13q13.1 13 32338202 G A V I 1283 1283 missense 0.02 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000811572,pubmed:25394175,ClinVar:RCV000584376 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA rs746229647 13q13.1 13 32338201_32338202T G - V K 1283 1283 frameshift -1.0 unknown -1.0 unknown 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs777895333 13q13.1 13 32338207 T G S R 1284 1284 missense 0.199 benign 0.45 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570596 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs777895333 13q13.1 13 32338207 T A S R 1284 1284 missense 0.199 benign 0.45 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217736 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs747103920 13q13.1 13 32338209 A G E G 1285 1285 missense 0.0 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000797506,pubmed:25394175,ClinVar:RCV000771443 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358629 13q13.1 13 32338211 A G K E 1286 1286 missense 0.999 probably damaging 0.13 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113227 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283430 13q13.1 13 32338213 A T K N 1286 1286 missense 1.0 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229283 13q13.1 13 32338214 A C N H 1287 1287 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000699122 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358630 13q13.1 13 32338218 A T N I 1288 1288 missense 0.786 possibly damaging 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 ClinVar:RCV000735543,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113231,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044290 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358630 13q13.1 13 32338218 A G N S 1288 1288 missense 0.013 benign 0.65 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000551285 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786201943 13q13.1 13 32338220 A G K E 1289 1289 missense 0.007 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701526,pubmed:25394175,ClinVar:RCV000164489 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283445 13q13.1 13 32338225 C A C * 1290 1290 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582374 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs41293485 13q13.1 13 32338224 G T C F 1290 1290 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772924 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs41293485 13q13.1 13 32338224 G A C Y 1290 1290 missense 0.018 benign 0.2 tolerated 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:227650 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000319921 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358631 13q13.1 13 32338226 C T Q * 1291 1291 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113234 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283446 13q13.1 13 32338230 T A L Q 1292 1292 missense 0.967 probably damaging 0.04 deleterious 0 Ovarian cancer Ovarian cancer is a disease that affects women. pubmed:22964825,pubmed:24493721,ClinVar:RCV000677828 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659799 13q13.1 13 32338232 A C I L 1293 1293 missense 0.005 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221273 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358632 13q13.1 13 32338236 T G L * 1294 1294 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257599,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496437,pubmed:25394175,ClinVar:RCV000772135 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358632 13q13.1 13 32338236 T A L * 1294 1294 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113235 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs879255309 13q13.1 13 32338238 C T Q * 1295 1295 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661418,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496728,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000504604 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659864 13q13.1 13 32338240 A C Q H 1295 1295 missense 0.993 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637593 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1427687544 13q13.1 13 32338241 A G N D 1296 1296 missense 0.125 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283450 13q13.1 13 32338246 T A N K 1297 1297 missense 0.233 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569294 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs41293487 13q13.1 13 32338249 T G I M 1298 1298 missense 0.785 possibly damaging 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569610 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358633 13q13.1 13 32338248 T A I N 1298 1298 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777119 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358633 13q13.1 13 32338248 T G I S 1298 1298 missense 0.205 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000549778,pubmed:25394175,ClinVar:RCV000583599 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358633 13q13.1 13 32338248 T C I T 1298 1298 missense 0.027 benign 0.3 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113236,pubmed:25394175,ClinVar:RCV000566464 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659209 13q13.1 13 32338255 G A M I 1300 1300 missense 0.053 benign 0.34 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471803,pubmed:25394175,ClinVar:RCV000219800 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1455648880 13q13.1 13 32338257 C T T I 1301 1301 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773740 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1455648880 13q13.1 13 32338257 C G T S 1301 1301 missense 0.388 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs779899032 13q13.1 13 32338256 A T T S 1301 1301 missense 0.388 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs543339423 13q13.1 13 32338259 A G T A 1302 1302 missense 0.321 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663001,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000698088,pubmed:25394175,ClinVar:RCV000130823 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358634 13q13.1 13 32338260 C T T I 1302 1302 missense 0.413 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637448,pubmed:25394175,ClinVar:RCV000573175 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358634 13q13.1 13 32338260 C A T N 1302 1302 missense 0.948 probably damaging 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113238 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs543339423 13q13.1 13 32338259 A T T S 1302 1302 missense 0.321 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772744 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs587782645 13q13.1 13 32338263 G A G D 1303 1303 missense 0.104 benign 0.4 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168154,pubmed:25394175,ClinVar:RCV000132046 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs28897723 13q13.1 13 32338265 A G T A 1304 1304 missense 0.011 benign 0.13 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031446 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283472 13q13.1 13 32338266 C G T S 1304 1304 missense 0.205 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358635 13q13.1 13 32338269 T C F S 1305 1305 missense 0.267 benign 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113241 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358637 13q13.1 13 32338272 T C V A 1306 1306 missense 0.03 benign 0.1 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113242 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358636 13q13.1 13 32338271 G A V I 1306 1306 missense 0.049 benign 0.14 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203660 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358638 13q13.1 13 32338277 G T E * 1308 1308 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:114480,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031448,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000465243,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167856,pubmed:25394175,ClinVar:RCV000128952 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358638 13q13.1 13 32338277 G A E K 1308 1308 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229403 13q13.1 13 32338281 T G I S 1309 1309 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000686771 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881528 13q13.1 13 32338284 C T T I 1310 1310 missense 0.03 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509663 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876659198 13q13.1 13 32338291 T G N K 1312 1312 missense 0.253 benign 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000528227 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358641 13q13.1 13 32338294 C G Y * 1313 1313 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082922,pubmed:25394175,ClinVar:RCV000567978 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358641 13q13.1 13 32338294 C A Y * 1313 1313 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113246 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358639 13q13.1 13 32338293 A G Y C 1313 1313 missense 0.017 benign 0.23 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113245 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358639 13q13.1 13 32338293 A C Y S 1313 1313 missense 0.138 benign 0.37 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113244 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1344698119 13q13.1 13 32338296 A G K R 1314 1314 missense 0.433 benign 0.36 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567669 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358643 13q13.1 13 32338299 G A R K 1315 1315 missense 0.003 benign 0.43 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113248 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122773 13q13.1 13 32338304 A T T S 1317 1317 missense 0.056 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077718,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229385,pubmed:25394175,ClinVar:RCV000509876 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358644 13q13.1 13 32338313 G T E * 1320 1320 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113251,pubmed:25394175,ClinVar:RCV000773262 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358644 13q13.1 13 32338313 G A E K 1320 1320 missense 0.03 benign 0.46 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000231743,pubmed:25394175,ClinVar:RCV000509619 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358645 13q13.1 13 32338317 A G D G 1321 1321 missense 0.076 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113252,pubmed:25394175,ClinVar:RCV000571707 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs750055488 13q13.1 13 32338316 G C D H 1321 1321 missense 0.824 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs750055488 13q13.1 13 32338316 G A D N 1321 1321 missense 0.015 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358645 13q13.1 13 32338317 A T D V 1321 1321 missense 0.697 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255449 13q13.1 13 32338319 A G N D 1322 1322 missense 0.64 possibly damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238737,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000542739 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358647 13q13.1 13 32338321 C G N K 1322 1322 missense 0.253 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077317,pubmed:25394175,ClinVar:RCV000572841 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358646 13q13.1 13 32338320 A G N S 1322 1322 missense 0.098 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583801 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358646 13q13.1 13 32338320 A C N T 1322 1322 missense 0.253 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 ClinVar:RCV000770722,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113253,pubmed:25394175,ClinVar:RCV000165691 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358648 13q13.1 13 32338322 A T K * 1323 1323 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113255,pubmed:25394175,ClinVar:RCV000131094 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1131692119 13q13.1 13 32338327 T G Y * 1324 1324 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000779939 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1486461236 13q13.1 13 32338326 A G Y C 1324 1324 missense 0.007 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568991 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879254067 13q13.1 13 32338325 T C Y H 1324 1324 missense 0.018 benign 0.51 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229476 13q13.1 13 32338334 G T A S 1327 1327 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775013 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229480 13q13.1 13 32338337 A T S C 1328 1328 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772926 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs753690365 13q13.1 13 32338338 G A S N 1328 1328 missense 0.007 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222332 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs753690365 13q13.1 13 32338338 G C S T 1328 1328 missense 0.138 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700826,pubmed:25394175,ClinVar:RCV000215901 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782718 13q13.1 13 32338340 A G R G 1329 1329 missense 0.017 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132205 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229484 13q13.1 13 32338341 G A R K 1329 1329 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691965 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786203361 13q13.1 13 32338342 A T R S 1329 1329 missense 0.138 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466166,pubmed:25394175,ClinVar:RCV000166638 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057520792 13q13.1 13 32338344 A G N S 1330 1330 missense 0.106 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775925 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224588 13q13.1 13 32338349 C G H D 1332 1332 missense 0.071 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775953 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122774 13q13.1 13 32338350 A G H R 1332 1332 missense 0.0 benign 0.35 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077719,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545850,pubmed:25394175,ClinVar:RCV000165461 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224588 COSM4938160 13q13.1 13 32338349 C T H Y 1332 1332 missense 0.003 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000196863 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358649 13q13.1 13 32338354 C G N K 1333 1333 missense 0.009 benign 0.44 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113256,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637386 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1158476316 13q13.1 13 32338352 A T N Y 1333 1333 missense 0.708 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358652 13q13.1 13 32338356 T A L * 1334 1334 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113257 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs747070579 13q13.1 13 32338358 G T E * 1335 1335 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241203,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000257988,pubmed:25394175,ClinVar:RCV000220552 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229501 13q13.1 13 32338359 A G E G 1335 1335 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688598 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs757305371 13q13.1 13 32338362 T C F S 1336 1336 missense 0.001 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567778 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283501 13q13.1 13 32338365 A T D V 1337 1337 missense 0.005 benign 0.18 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529722 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283503 13q13.1 13 32338367 G A G S 1338 1338 missense 0.003 benign 0.45 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545471 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283506 13q13.1 13 32338374 A C D A 1340 1340 missense 0.709 possibly damaging 0.4 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561629 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555283506 13q13.1 13 32338374 A T D V 1340 1340 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401901 13q13.1 13 32338377 C A S * 1341 1341 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661610,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496483 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502476 13q13.1 13 32338379 A G S G 1342 1342 missense 0.001 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662790,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476675,pubmed:25394175,ClinVar:RCV000564249 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1270552356 13q13.1 13 32338380 G A S N 1342 1342 missense 0.018 benign 0.17 tolerated 0 Infiltrating duct carcinoma of breast pubmed:23188549,ClinVar:RCV000656474,pubmed:25394175,ClinVar:RCV000774996,ClinVar:RCV000677837 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs483353114 13q13.1 13 32338382 A G K E 1343 1343 missense 0.979 probably damaging 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113262,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000820321,pubmed:25394175,ClinVar:RCV000563477 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1304787573 13q13.1 13 32338390 T A D E 1345 1345 missense 0.253 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283516 13q13.1 13 32338388 G A D N 1345 1345 missense 0.085 benign 0.32 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637578 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283519 13q13.1 13 32338392 C A T N 1346 1346 missense 0.8045 possibly damaging, probably damaging 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637490 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358653 13q13.1 13 32338394 G A V I 1347 1347 missense 0.044 benign 0.14 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000470587 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358653 13q13.1 13 32338394 G C V L 1347 1347 missense 0.26 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113264,pubmed:25394175,ClinVar:RCV000570365 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1307056903 13q13.1 13 32338398 G T C F 1348 1348 missense 0.003 benign 0.67 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs199863034 13q13.1 13 32338397 T C C R 1348 1348 missense 0.062 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510035 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs199863034 13q13.1 13 32338397 T A C S 1348 1348 2.0E-4 missense 0.001 benign 0.4 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1307056903 13q13.1 13 32338398 G A C Y 1348 1348 missense 0.0 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000692198 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358654 13q13.1 13 32338401 T C I T 1349 1349 missense 0.356 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000163004 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs780544697 13q13.1 13 32338400 A G I V 1349 1349 missense 0.03 benign 0.51 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1359369718 13q13.1 13 32338405 T G H Q 1350 1350 missense 0.274 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1359369718 13q13.1 13 32338405 T A H Q 1350 1350 missense 0.274 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000576084 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040510 13q13.1 13 32338406 A T K * 1351 1351 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257141 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,dbSNP,gnomAD rs80358655 COSM1366433 13q13.1 13 32338409 G T D Y 1352 1352 missense 0.993 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome ClinVar:RCV000770723,pubmed:25394175,ClinVar:RCV000565185 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358656 COSM69844 13q13.1 13 32338416 C T T M 1354 1354 missense 0.238 benign, possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077319,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195329 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897724 13q13.1 13 32338423 G T L F 1356 1356 missense 0.222 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000227395,pubmed:25394175,ClinVar:RCV000129289 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876660967 13q13.1 13 32338422 T C L S 1356 1356 missense 0.936 probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239292,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558819,pubmed:25394175,ClinVar:RCV000771388 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs55796504 13q13.1 13 32338425 T C L P 1357 1357 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs55796504 13q13.1 13 32338425 T G L R 1357 1357 missense 0.053 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000409740,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462928,pubmed:25394175,ClinVar:RCV000130026 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1251545928 13q13.1 13 32338424 C G L V 1357 1357 missense 0.023 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283536 13q13.1 13 32338427 T G F V 1358 1358 missense 0.039 benign 0.52 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000537265 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229623 13q13.1 13 32338430 A G T A 1359 1359 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775695 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853578 13q13.1 13 32338431 C T T I 1359 1359 missense 0.193 benign 0.61 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000230157,pubmed:25394175,ClinVar:RCV000772157 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881529 13q13.1 13 32338434 A G D G 1360 1360 missense 0.076 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881529 13q13.1 13 32338434 A T D V 1360 1360 missense 0.697 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587780652 13q13.1 13 32338436 C G Q E 1361 1361 missense 0.237 benign 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122910 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1060502441 13q13.1 13 32338440 A T H L 1362 1362 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502441 13q13.1 13 32338440 A G H R 1362 1362 missense 0.003 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474555,pubmed:25394175,ClinVar:RCV000775929 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359787 13q13.1 13 32338444 C A N K 1363 1363 missense 0.196 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222803 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1165204072 13q13.1 13 32338443 A G N S 1363 1363 missense 0.079 benign 0.3 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000547329,pubmed:25394175,ClinVar:RCV000581950 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs56248502 13q13.1 13 32338445 A C I L 1364 1364 missense 0.007 benign 0.51 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131014 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs56248502 13q13.1 13 32338445 A G I V 1364 1364 missense 0.007 benign 0.54 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000410854,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000557623,pubmed:25394175,ClinVar:RCV000130224 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358658 13q13.1 13 32338450 T A C * 1365 1365 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113273,pubmed:25394175,ClinVar:RCV000447449 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358657 13q13.1 13 32338449 G C C S 1365 1365 missense 0.054 benign 0.42 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637712 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358657 13q13.1 13 32338449 G A C Y 1365 1365 missense 0.0 benign 1.0 tolerated 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000770725 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229657 13q13.1 13 32338451 C G L V 1366 1366 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695644 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283554 13q13.1 13 32338461 C T S F 1369 1369 missense 0.267 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000816953,pubmed:25394175,ClinVar:RCV000561231 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs138567364 13q13.1 13 32338460 T C S P 1369 1369 missense 0.026 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565773 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587781406 13q13.1 13 32338464 G C G A 1370 1370 missense 0.097 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000536926,pubmed:25394175,ClinVar:RCV000165589 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587781406 13q13.1 13 32338464 G A G D 1370 1370 missense 0.013 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129259 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587781406 13q13.1 13 32338464 G T G V 1370 1370 missense 0.274 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582735 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358659 13q13.1 13 32338466 C T Q * 1371 1371 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077320,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044353,pubmed:25394175,ClinVar:RCV000131073 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283563 13q13.1 13 32338468 G C Q H 1371 1371 missense 0.993 probably damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581592 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283563 13q13.1 13 32338468 G T Q H 1371 1371 missense 0.993 probably damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566570 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622169 13q13.1 13 32338469 T A F I 1372 1372 missense 0.154 benign 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203980 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203478 13q13.1 13 32338471 T G F L 1372 1372 missense 0.009 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166797 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283567 13q13.1 13 32338470 T A F Y 1372 1372 missense 0.289 benign, possibly damaging 0.32 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572611 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs750581150 13q13.1 13 32338473 T G M R 1373 1373 missense 0.708 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs750581150 13q13.1 13 32338473 T C M T 1373 1373 missense 0.036 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome ClinVar:RCV000770726,pubmed:25394175,ClinVar:RCV000216455 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs781119815 13q13.1 13 32338472 A G M V 1373 1373 missense 0.009 benign 0.64 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000464729 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622126 13q13.1 13 32338475 A G K E 1374 1374 missense 0.562 possibly damaging 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205046 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622126 13q13.1 13 32338475 A C K Q 1374 1374 missense 0.848 possibly damaging 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000550336 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1256857369 13q13.1 13 32338480 G T E D 1375 1375 missense 0.065 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs780458959 13q13.1 13 32338482 G T G V 1376 1376 missense 0.044 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233089,pubmed:25394175,ClinVar:RCV000773181 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs749624669 13q13.1 13 32338485 A G N S 1377 1377 missense 0.075 benign 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1204269313 13q13.1 13 32338487 A G T A 1378 1378 missense 0.011 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs945880747 13q13.1 13 32338488 C T T I 1378 1378 missense 0.056 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509798 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs945880747 13q13.1 13 32338488 C A T N 1378 1378 missense 0.462 possibly damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000538971,pubmed:25394175,ClinVar:RCV000572970 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1204269313 13q13.1 13 32338487 A T T S 1378 1378 missense 0.031 benign 0.27 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768918982 13q13.1 13 32338492 G T Q H 1379 1379 missense 0.139 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573009 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781488 13q13.1 13 32338495 T G I M 1380 1380 missense 0.037 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129451 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283594 13q13.1 13 32338493 A G I V 1380 1380 missense 0.017 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229775 13q13.1 13 32338500 A G E G 1382 1382 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774014 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782234 13q13.1 13 32338502 G A D N 1383 1383 missense 0.0 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130931 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782234 13q13.1 13 32338502 G T D Y 1383 1383 missense 0.248 benign 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000532870 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507325 13q13.1 13 32338506 T A L * 1384 1384 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031465 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs779408742 13q13.1 13 32338505 T A L M 1384 1384 missense 0.997 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637416,pubmed:25394175,ClinVar:RCV000572775 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs779408742 13q13.1 13 32338505 T G L V 1384 1384 missense 0.872 possibly damaging 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564257 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038101 13q13.1 13 32338509 C A S * 1385 1385 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241154 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038101 13q13.1 13 32338509 C G S * 1385 1385 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637324 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs431825316 13q13.1 13 32338512 A G D G 1386 1386 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773632 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283600 13q13.1 13 32338511 G A D N 1386 1386 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000553527 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs431825316 13q13.1 13 32338512 A T D V 1386 1386 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283600 COSM1300152 13q13.1 13 32338511 G T D Y 1386 1386 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509929 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825317 13q13.1 13 32338514 T A L I 1387 1387 missense 0.995 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082925,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637472,pubmed:25394175,ClinVar:RCV000164638 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP rs28897725 13q13.1 13 32338518 C A T N 1388 1388 missense 0.999 probably damaging 0.04 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113281 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283603 13q13.1 13 32338517 A C T P 1388 1388 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637738 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229818 13q13.1 13 32338521 T C F S 1389 1389 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777337 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1409088355 13q13.1 13 32338520 T G F V 1389 1389 missense 0.149 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531813,pubmed:25394175,ClinVar:RCV000574569 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358661 13q13.1 13 32338529 G A V I 1392 1392 missense 0.045 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113283,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044367,pubmed:25394175,ClinVar:RCV000165447 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122776 13q13.1 13 32338533 C G A G 1393 1393 missense 0.186 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077722,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637643,pubmed:25394175,ClinVar:RCV000164308 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs398122776 COSM4047070 13q13.1 13 32338533 C T A V 1393 1393 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165267 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs431825318 13q13.1 13 32338538 G T A S 1395 1395 missense 0.702 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082926,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000546266,pubmed:25394175,ClinVar:RCV000165596 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed rs776286311 13q13.1 13 32338541 C G Q E 1396 1396 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55969723 13q13.1 13 32338542 A G Q R 1396 1396 missense 0.098 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566229868 13q13.1 13 32338545 A C E A 1397 1397 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs28897726 13q13.1 13 32338544 G A E K 1397 1397 missense 0.96 probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031468,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203656,pubmed:25394175,ClinVar:RCV000509937 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659902 13q13.1 13 32338547 G A A T 1398 1398 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223165 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs764939265 13q13.1 13 32338551 G T C F 1399 1399 missense 0.354 benign 0.67 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs730881530 13q13.1 13 32338550 T C C R 1399 1399 missense 0.3685 benign, possibly damaging 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561378 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1454140894 13q13.1 13 32338554 A T H L 1400 1400 missense 0.005 benign 0.28 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786204062 13q13.1 13 32338559 A C N H 1402 1402 missense 0.926 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167928,pubmed:25394175,ClinVar:RCV000222929 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs41293489 13q13.1 13 32338566 C A S * 1404 1404 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000560709 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs41293489 13q13.1 13 32338566 C G S * 1404 1404 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256949,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000500303,pubmed:25394175,ClinVar:RCV000562646 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs41293489 13q13.1 13 32338566 C T S L 1404 1404 missense 0.079 benign 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637430 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283633 13q13.1 13 32338568 A G N D 1405 1405 missense 0.196 benign 0.59 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658735 13q13.1 13 32338571 A G K E 1406 1406 missense 0.929 probably damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220122 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283634 13q13.1 13 32338573 A C K N 1406 1406 missense 0.955 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358663 13q13.1 13 32338577 C T Q * 1408 1408 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031470,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044373,pubmed:25394175,ClinVar:RCV000215029 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs762778002 13q13.1 13 32338578 A G Q R 1408 1408 missense 0.848 possibly damaging 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057520636 13q13.1 13 32338581 T A L * 1409 1409 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661572 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203320 13q13.1 13 32338587 C G A G 1411 1411 missense 0.106 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166581 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1202062406 13q13.1 13 32338586 G T A S 1411 1411 missense 0.452 possibly damaging 0.69 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661198 13q13.1 13 32338592 A G K E 1413 1413 missense 0.017 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709310,pubmed:25394175,ClinVar:RCV000567611 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853581 13q13.1 13 32338595 A G T A 1414 1414 missense 0.015 benign 0.7 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662562,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000228724 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs70953664 13q13.1 13 32338596 C T T M 1414 1414 missense 0.001 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167832 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507327 13q13.1 13 32338598 G T E * 1415 1415 stop gained 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031471,ClinVar:RCV000762917,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000762917,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000762917,ClinVar:RCV000762917,pubmed:25394175,ClinVar:RCV000510028,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000762917,ClinVar:RCV000762917,ClinVar:RCV000762917,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000762917 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502399 13q13.1 13 32338599 A G E G 1415 1415 missense 0.272 benign 0.36 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471686 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs397507327 13q13.1 13 32338598 G A E K 1415 1415 missense 0.823 possibly damaging 0.34 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202421 13q13.1 13 32338601 C T Q * 1416 1416 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241289,pubmed:25394175,ClinVar:RCV000165228 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs143667871 13q13.1 13 32338607 A C I L 1418 1418 2.0E-4 missense 0.193 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793378 13q13.1 13 32338609 A G I M 1418 1418 missense 0.891 possibly damaging 0.12 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000804771 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs754119978 13q13.1 13 32338608 T C I T 1418 1418 missense 0.03 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573134 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs143667871 13q13.1 13 32338607 A G I V 1418 1418 missense 0.053 benign 0.47 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000815760,pubmed:25394175,ClinVar:RCV000129676 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897727 13q13.1 13 32338613 G T D Y 1420 1420 missense 0.967 probably damaging 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000162541 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853582 13q13.1 13 32338616 T C F L 1421 1421 missense 0.005 benign 0.57 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000231637,pubmed:25394175,ClinVar:RCV000572245 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs786201704 13q13.1 13 32338618 T G F L 1421 1421 missense 0.005 benign 0.57 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs779130725 13q13.1 13 32338622 A G T A 1423 1423 missense 0.075 benign 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358664 13q13.1 13 32338626 C G S C 1424 1424 missense 0.001 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122780 13q13.1 13 32338629 A G D G 1425 1425 missense 0.0 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077726,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471950,pubmed:25394175,ClinVar:RCV000772745 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659380 13q13.1 13 32338631 A G T A 1426 1426 missense 0.003 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215135 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs748591104 13q13.1 13 32338632 C T T I 1426 1426 missense 0.0 benign 0.65 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000547653,pubmed:25394175,ClinVar:RCV000772746 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs748591104 13q13.1 13 32338632 C A T K 1426 1426 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773584 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs730881531 13q13.1 13 32338634 T A F I 1427 1427 missense 0.0 benign 0.3 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886463005 13q13.1 13 32338635 T A F Y 1427 1427 missense 0.0 benign 0.72 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574875 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1343940721 13q13.1 13 32338639 T G F L 1428 1428 missense 0.396 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358665 13q13.1 13 32338640 C T Q * 1429 1429 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113290,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044388,pubmed:25394175,ClinVar:RCV000219511 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283691 13q13.1 13 32338643 A G T A 1430 1430 missense 0.999 probably damaging 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659247 13q13.1 13 32338644 C T T I 1430 1430 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000818006,pubmed:25394175,ClinVar:RCV000213473 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659272 13q13.1 13 32338647 C T A V 1431 1431 missense 0.841 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000526222,pubmed:25394175,ClinVar:RCV000217324 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230025 13q13.1 13 32338650 G A S N 1432 1432 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000694470 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1064793065 13q13.1 13 32338651 T G S R 1432 1432 missense 0.994 probably damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs758795405 13q13.1 13 32338653 G A G E 1433 1433 missense 0.997 probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000702761 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1036091086 13q13.1 13 32338652 G T G W 1433 1433 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659616 13q13.1 13 32338655 A G K E 1434 1434 missense 0.999 probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637731,pubmed:25394175,ClinVar:RCV000216344 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs397507714 13q13.1 13 32338656 A T K I 1434 1434 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131680 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs878853583 13q13.1 13 32338660 T G N K 1435 1435 missense 0.813 possibly damaging 0.11 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000228914 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs746472081 13q13.1 13 32338662 T C I T 1436 1436 missense 0.321 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000540953,pubmed:25394175,ClinVar:RCV000509985 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs778282885 13q13.1 13 32338661 A G I V 1436 1436 missense 0.321 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772747 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283705 13q13.1 13 32338664 A T S C 1437 1437 missense 0.023 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510042 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1403318277 13q13.1 13 32338665 G C S T 1437 1437 missense 0.022 benign 0.19 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202874 13q13.1 13 32338667 G A V I 1438 1438 missense 0.028 benign 0.07 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000411249,pubmed:25394175,ClinVar:RCV000165922,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000677852 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358667 13q13.1 13 32338671 C A A D 1439 1439 missense 0.015 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131416 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358666 COSM4047072 13q13.1 13 32338670 G A A T 1439 1439 missense 0.0 benign 0.13 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113292 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358668 13q13.1 13 32338673 A G K E 1440 1440 missense 0.106 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113293,pubmed:25394175,ClinVar:RCV000130424 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs769535925 13q13.1 13 32338675 A C K N 1440 1440 missense 0.848 possibly damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529148 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358669 13q13.1 13 32338674 A G K R 1440 1440 missense 0.772 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113294,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044394,pubmed:25394175,ClinVar:RCV000130008 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659758 13q13.1 13 32338676 G C E Q 1441 1441 missense 0.23 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223496 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1198430908 13q13.1 13 32338677 A T E V 1441 1441 missense 0.886 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358670 13q13.1 13 32338680 C G S * 1442 1442 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077728,pubmed:25394175,ClinVar:RCV000570068 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358670 13q13.1 13 32338680 C A S * 1442 1442 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113295,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044395,pubmed:25394175,ClinVar:RCV000510062 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283725 13q13.1 13 32338682 T C F L 1443 1443 missense 0.0 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637649 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782661 13q13.1 13 32338686 A G N S 1444 1444 missense 0.012 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132077 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782661 13q13.1 13 32338686 A C N T 1444 1444 missense 0.062 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580803 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203291 13q13.1 13 32338688 A G K E 1445 1445 missense 0.55 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166532 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502480 13q13.1 13 32338690 A C K N 1445 1445 missense 0.986 probably damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457135 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230096 13q13.1 13 32338689 A C K T 1445 1445 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688055 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283730 13q13.1 13 32338692 T C I T 1446 1446 missense 0.096 benign 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637694 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661017 13q13.1 13 32338691 A G I V 1446 1446 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573581 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795076 13q13.1 13 32338694 G A V I 1447 1447 missense 0.321 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs762841458 13q13.1 13 32338698 A T N I 1448 1448 missense 0.956 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793724 13q13.1 13 32338699 T G N K 1448 1448 missense 0.81 possibly damaging 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000539583 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502450 13q13.1 13 32338702 C A F L 1449 1449 missense 0.109 benign 0.66 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466624 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230114 13q13.1 13 32338708 T G D E 1451 1451 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774029 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358671 13q13.1 13 32338707 A G D G 1451 1451 missense 0.937 probably damaging 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113298,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044398 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP rs431825319 13q13.1 13 32338709 C T Q * 1452 1452 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661657,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000792245 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP rs431825319 13q13.1 13 32338709 C G Q E 1452 1452 missense 0.023 benign 0.75 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082927,pubmed:25394175,ClinVar:RCV000213089 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs56317927 13q13.1 13 32338710 A G Q R 1452 1452 missense 0.007 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219013 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507330 13q13.1 13 32338712 A G K E 1453 1453 missense 0.05 benign 0.65 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000119103,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204586,pubmed:25394175,ClinVar:RCV000166887 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs774446640 13q13.1 13 32338714 A T K N 1453 1453 missense 0.044 benign 0.18 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637488 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs760773155 13q13.1 13 32338716 C T P L 1454 1454 missense 0.209 benign 0.26 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs760773155 13q13.1 13 32338716 C G P R 1454 1454 missense 0.36 benign 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230144 13q13.1 13 32338718 G T E * 1455 1455 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776401 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659847 13q13.1 13 32338721 G T E * 1456 1456 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257168,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496408,pubmed:25394175,ClinVar:RCV000509662 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853584 13q13.1 13 32338722 A C E A 1456 1456 missense 0.297 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000231677 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853584 13q13.1 13 32338722 A G E G 1456 1456 missense 0.757 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572727 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659847 13q13.1 13 32338721 G A E K 1456 1456 missense 0.753 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637358,pubmed:25394175,ClinVar:RCV000213410 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060504627 13q13.1 13 32338729 T A H Q 1458 1458 missense 0.173 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580464 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587782185 13q13.1 13 32338728 A G H R 1458 1458 missense 0.133 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238654,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469193,pubmed:25394175,ClinVar:RCV000130812 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358672 13q13.1 13 32338727 C T H Y 1458 1458 missense 0.395 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077323,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044399,pubmed:25394175,ClinVar:RCV000216745 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358673 13q13.1 13 32338732 C G N K 1459 1459 missense 0.373 benign 0.05 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113299 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs117187202 13q13.1 13 32338731 A G N S 1459 1459 missense 0.03 benign 0.39 tolerated 0 Ovarian cancer Ovarian cancer is a disease that affects women. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031479,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044400,pubmed:25394175,ClinVar:RCV000166927,ClinVar:RCV000677823,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240790,pubmed:22964825,pubmed:24493721,ClinVar:RCV000677824 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283758 13q13.1 13 32338734 T C F S 1460 1460 missense 0.848 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509752 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283754 13q13.1 13 32338733 T G F V 1460 1460 missense 0.557 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000533478,pubmed:25394175,ClinVar:RCV000777191 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502490 13q13.1 13 32338736 T C S P 1461 1461 missense 0.124 benign 0.08 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467486 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1305070555 13q13.1 13 32338743 A G N S 1463 1463 missense 0.297 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283760 13q13.1 13 32338745 T G S A 1464 1464 missense 0.644 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561437 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587776464 13q13.1 13 32338746 C T S F 1464 1464 missense 0.719 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144185,pubmed:25394175,ClinVar:RCV000584025 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040526 13q13.1 13 32338752 T G L * 1466 1466 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040526 13q13.1 13 32338752 T A L * 1466 1466 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257822,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000703187 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283763 13q13.1 13 32338751 T A L I 1466 1466 missense 0.967 probably damaging 0.16 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637538 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283765 13q13.1 13 32338755 A G H R 1467 1467 missense 0.225 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000807376,pubmed:25394175,ClinVar:RCV000576022 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1064793495 13q13.1 13 32338754 C T H Y 1467 1467 missense 0.007 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283769 13q13.1 13 32338758 C G S C 1468 1468 missense 0.26 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637582,pubmed:25394175,ClinVar:RCV000509908 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs778192937 13q13.1 13 32338757 T A S T 1468 1468 missense 0.637 possibly damaging 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283770 13q13.1 13 32338760 G A D N 1469 1469 missense 0.253 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569976 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283772 13q13.1 13 32338766 A T R * 1471 1471 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574234 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786203839 13q13.1 13 32338767 G T R I 1471 1471 missense 0.012 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000461661,pubmed:25394175,ClinVar:RCV000167319 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs757821270 13q13.1 13 32338769 A G K E 1472 1472 missense 0.059 benign 0.78 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000470451 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358675 13q13.1 13 32338772 A G N D 1473 1473 missense 0.82 possibly damaging 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113301,pubmed:25394175,ClinVar:RCV000216560 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1222884804 13q13.1 13 32338773 A G N S 1473 1473 missense 0.182 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs780660669 13q13.1 13 32338776 A G K R 1474 1474 missense 0.166 benign 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000554117 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255301 13q13.1 13 32338780 G A M I 1475 1475 missense 0.011 benign 0.31 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238644 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825320 13q13.1 13 32338778 A G M V 1475 1475 missense 0.003 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082928,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701791,pubmed:25394175,ClinVar:RCV000566502 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs745425169 13q13.1 13 32338782 A G D G 1476 1476 missense 0.283 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220363 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1380537823 13q13.1 13 32338781 G A D N 1476 1476 missense 0.857 possibly damaging 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1159807733 13q13.1 13 32338784 A T I F 1477 1477 missense 0.05 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283775 13q13.1 13 32338785 T C I T 1477 1477 missense 0.019 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564623 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1159807733 13q13.1 13 32338784 A G I V 1477 1477 missense 0.011 benign 0.14 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637705 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1382689372 13q13.1 13 32338788 T C L P 1478 1478 missense 0.848 possibly damaging 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1382689372 13q13.1 13 32338788 T G L R 1478 1478 missense 0.802 possibly damaging 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637608 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358678 13q13.1 13 32338791 G C S T 1479 1479 missense 0.356 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131309 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507719 13q13.1 13 32338795 T G Y * 1480 1480 stop gained 0 Genetic non-acquired premature ovarian failure MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000225483,ClinVar:RCV000770916 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1163303343 13q13.1 13 32338794 A G Y C 1480 1480 missense 0.451 possibly damaging 0.17 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283783 13q13.1 13 32338793 T C Y H 1480 1480 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573032 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283785 13q13.1 13 32338796 G T E * 1481 1481 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583344 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs775234705 13q13.1 13 32338800 A G E G 1482 1482 missense 0.875 possibly damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206849 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1002900129 13q13.1 13 32338799 G A E K 1482 1482 missense 0.201 benign 0.36 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283789 13q13.1 13 32338802 A G T A 1483 1483 missense 0.539 possibly damaging 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570051 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1327059542 13q13.1 13 32338806 A C D A 1484 1484 missense 0.753 possibly damaging 0.39 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230343 13q13.1 13 32338807 C A D E 1484 1484 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696101 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876660070 13q13.1 13 32338805 G A D N 1484 1484 missense 0.044 benign 0.71 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000810885,pubmed:25394175,ClinVar:RCV000214723 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283791 13q13.1 13 32338810 A G I M 1485 1485 missense 0.003 benign 0.75 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583323 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283790 13q13.1 13 32338809 T G I R 1485 1485 missense 0.106 benign 0.56 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637514 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203743 13q13.1 13 32338819 C A H Q 1488 1488 missense 0.0 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000814203,pubmed:25394175,ClinVar:RCV000167179 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203743 13q13.1 13 32338819 C G H Q 1488 1488 missense 0.0 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217795 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1335405008 13q13.1 13 32338818 A G H R 1488 1488 missense 0.0 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283795 13q13.1 13 32338817 C T H Y 1488 1488 missense 0.003 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637316,pubmed:25394175,ClinVar:RCV000576055 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038104 13q13.1 13 32338820 A T K * 1489 1489 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241088 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283798 13q13.1 13 32338827 T C L P 1491 1491 missense 0.983 probably damaging 0.24 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545774 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs748982373 13q13.1 13 32338826 C G L V 1491 1491 missense 0.279 benign 0.4 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057517636 13q13.1 13 32338829 A T K * 1492 1492 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000411097 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283805 13q13.1 13 32338834 A C E D 1493 1493 missense 0.106 benign 0.19 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000535063 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358679 13q13.1 13 32338833 A G E G 1493 1493 missense 0.772 possibly damaging 0.25 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113308,ClinVar:RCV000763887,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763887,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763887,ClinVar:RCV000763887,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000556739,pubmed:25394175,ClinVar:RCV000509781,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763887,ClinVar:RCV000763887,ClinVar:RCV000763887,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763887 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122782 13q13.1 13 32338832 G C E Q 1493 1493 missense 0.743 possibly damaging 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077729,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459380 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358679 13q13.1 13 32338833 A T E V 1493 1493 missense 0.848 possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs761826517 13q13.1 13 32338837 T G S R 1494 1494 missense 0.786 possibly damaging 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs776538666 13q13.1 13 32338839 T A V D 1495 1495 missense 0.113 benign 0.34 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358680 13q13.1 13 32338838 G A V I 1495 1495 missense 0.0 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131290 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358681 13q13.1 13 32338845 T C V A 1497 1497 missense 0.011 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582167 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358681 13q13.1 13 32338845 T A V D 1497 1497 missense 0.433 benign 0.07 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083107 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1271777808 13q13.1 13 32338844 G T V F 1497 1497 missense 0.137 benign 0.19 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1271777808 13q13.1 13 32338844 G C V L 1497 1497 missense 0.036 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509634 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283809 13q13.1 13 32338848 G A G D 1498 1498 missense 0.017 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs765328255 13q13.1 13 32338853 G A G R 1500 1500 missense 0.017 benign 0.32 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283811 13q13.1 13 32338856 A T N Y 1501 1501 missense 0.601 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637512 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502425 13q13.1 13 32338859 C G Q E 1502 1502 missense 0.044 benign 0.12 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000458369 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1443304067 13q13.1 13 32338861 A C Q H 1502 1502 missense 0.894 possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660919 13q13.1 13 32338860 A G Q R 1502 1502 missense 0.562 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218589 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283814 13q13.1 13 32338863 T C L P 1503 1503 missense 0.999 probably damaging 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000533731 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358682 13q13.1 13 32338868 A G T A 1505 1505 missense 0.087 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113310,pubmed:25394175,ClinVar:RCV000569819 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230463 13q13.1 13 32338869 C T T I 1505 1505 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775846 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659011 13q13.1 13 32338871 T C F L 1506 1506 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000797532,pubmed:25394175,ClinVar:RCV000214758 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1386446278 13q13.1 13 32338874 C G Q E 1507 1507 missense 0.743 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1473942366 13q13.1 13 32338875 A G Q R 1507 1507 missense 0.757 possibly damaging 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661035 13q13.1 13 32338877 G C G R 1508 1508 missense 0.0 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562611 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs80358683 13q13.1 13 32338880 C T Q * 1509 1509 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113311,ClinVar:RCV000677847,pubmed:25394175,ClinVar:RCV000850058 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs56283738 13q13.1 13 32338882 A C Q H 1509 1509 missense 0.646 possibly damaging 0.3 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238908,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204087,pubmed:25394175,ClinVar:RCV000215274 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs764435740 13q13.1 13 32338881 A T Q L 1509 1509 missense 0.169 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs764435740 13q13.1 13 32338881 A G Q R 1509 1509 missense 0.007 benign 0.39 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000527013 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs376338226 13q13.1 13 32338886 G A E K 1511 1511 missense 0.01 benign 0.43 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130226 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358684 COSM946805 13q13.1 13 32338889 C T R C 1512 1512 missense 0.0 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130950 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358685 COSM6074239 13q13.1 13 32338890 G A R H 1512 1512 missense 0.172 benign 0.54 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167383 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358685 13q13.1 13 32338890 G C R P 1512 1512 missense 0.177 benign 0.2 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113314 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358684 13q13.1 13 32338889 C A R S 1512 1512 missense 0.003 benign 0.4 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358688 13q13.1 13 32338894 T A D E 1513 1513 missense 0.0 benign 1.0 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113316 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358687 13q13.1 13 32338892 G A D N 1513 1513 missense 0.003 benign 0.3 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113315,pubmed:25394175,ClinVar:RCV000773264 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230577 13q13.1 13 32338893 A T D V 1513 1513 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283834 13q13.1 13 32338898 A G K E 1515 1515 missense 0.003 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637547,pubmed:25394175,ClinVar:RCV000574586 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283835 13q13.1 13 32338900 G T K N 1515 1515 missense 0.003 benign 0.15 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637587 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202983 13q13.1 13 32338901 A C I L 1516 1516 missense 0.356 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166079 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037815 13q13.1 13 32338903 C G I M 1516 1516 missense 0.891 possibly damaging 0.01 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240770 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs80358689 13q13.1 13 32338902 T A I N 1516 1516 missense 0.017 benign 0.07 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 ClinVar:RCV000735550,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113318 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs730881532 13q13.1 13 32338904 A G K E 1517 1517 missense 0.072 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000541569,pubmed:25394175,ClinVar:RCV000575191 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781468 13q13.1 13 32338905 A G K R 1517 1517 missense 0.757 possibly damaging 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129409 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs397507727 13q13.1 13 32338907 G T E * 1518 1518 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241077 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283843 13q13.1 13 32338910 C G P A 1519 1519 missense 0.012 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000817797,pubmed:25394175,ClinVar:RCV000510110 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781534 13q13.1 13 32338911 C G P R 1519 1519 missense 0.087 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637493,pubmed:25394175,ClinVar:RCV000129536 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358690 13q13.1 13 32338913 A G T A 1520 1520 missense 0.011 benign 0.14 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113320 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs747993489 13q13.1 13 32338914 C T T I 1520 1520 missense 0.139 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs747993489 13q13.1 13 32338914 C G T S 1520 1520 missense 0.096 benign 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1200198184 13q13.1 13 32338917 T C L P 1521 1521 missense 1.0 probably damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1200198184 13q13.1 13 32338917 T G L R 1521 1521 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565826 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507729 13q13.1 13 32338921 G T L F 1522 1522 missense 0.962 probably damaging 0.01 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577630 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs879255451 13q13.1 13 32338923 G A G D 1523 1523 missense 0.786 possibly damaging 0.17 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587781418 13q13.1 13 32338922 G C G R 1523 1523 missense 0.915 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000554873 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587781418 13q13.1 13 32338922 G A G S 1523 1523 missense 0.076 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129287 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs879255451 13q13.1 13 32338923 G T G V 1523 1523 missense 0.839 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239353,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690856 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs764341684 13q13.1 13 32338927 T G F L 1524 1524 missense 0.998 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56386506 13q13.1 13 32338925 T G F V 1524 1524 missense 0.999 probably damaging 0.02 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083108 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507336 13q13.1 13 32338929 A C H P 1525 1525 missense 0.782 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496676,pubmed:25394175,ClinVar:RCV000571305 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507336 13q13.1 13 32338929 A G H R 1525 1525 missense 0.011 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031490,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229506,pubmed:25394175,ClinVar:RCV000214334 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879254071 13q13.1 13 32338934 G A A T 1527 1527 missense 0.988 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359788 13q13.1 13 32338939 C G S R 1528 1528 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662564,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000537486,pubmed:25394175,ClinVar:RCV000565812 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs28897728 COSM946807 13q13.1 13 32338940 G A G R 1529 1529 6.000000284984708E-4 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113324 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358692 13q13.1 13 32338943 A T K * 1530 1530 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077329,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044447,pubmed:25394175,ClinVar:RCV000162921 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507730 13q13.1 13 32338944 A G K R 1530 1530 missense 0.953 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218367 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283865 13q13.1 13 32338946 A T K * 1531 1531 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000557526 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555283865 13q13.1 13 32338946 A G K E 1531 1531 missense 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000769694 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs386833397 13q13.1 13 32338948 A T K N 1531 1531 missense 0.821 possibly damaging 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs386833397 13q13.1 13 32338948 A C K N 1531 1531 missense 0.821 possibly damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000792316,pubmed:25394175,ClinVar:RCV000509691 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358693 13q13.1 13 32338949 G T V F 1532 1532 missense 0.948 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031492 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502418 13q13.1 13 32338952 A G K E 1533 1533 missense 0.087 benign 0.13 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000464981 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358694 13q13.1 13 32338954 A C K N 1533 1533 missense 0.017 benign 0.17 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283869 13q13.1 13 32338956 T C I T 1534 1534 missense 0.679 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000550868,pubmed:25394175,ClinVar:RCV000581048 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1471265644 13q13.1 13 32338959 C A A E 1535 1535 missense 0.557 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283871 13q13.1 13 32338961 A G K E 1536 1536 missense 0.253 benign 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000525454 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202313 13q13.1 13 32338966 A C E D 1537 1537 missense 0.99 probably damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000535631,pubmed:25394175,ClinVar:RCV000165057 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs753244927 13q13.1 13 32338964 G A E K 1537 1537 missense 0.984 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000191160 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs754643404 13q13.1 13 32338968 C T S F 1538 1538 missense 0.999 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230812 13q13.1 13 32338967 T A S T 1538 1538 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1176598028 13q13.1 13 32338973 G A D N 1540 1540 missense 0.018 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs747899091 13q13.1 13 32338977 A G K R 1541 1541 missense 0.067 benign 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs28897729 13q13.1 13 32338979 G T V L 1542 1542 missense 0.755 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs28897729 13q13.1 13 32338979 G A V M 1542 1542 missense 0.995 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000538825,pubmed:25394175,ClinVar:RCV000573422 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786204239 13q13.1 13 32338982 A G K E 1543 1543 missense 0.702 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168397,pubmed:25394175,ClinVar:RCV000569285 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782753 13q13.1 13 32338986 A G N S 1544 1544 missense 0.186 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132267 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230846 13q13.1 13 32338988 C T L F 1545 1545 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000698794 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1322421694 13q13.1 13 32338989 T C L P 1545 1545 missense 0.99 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs777505242 13q13.1 13 32338993 T A F L 1546 1546 missense 0.998 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507337 13q13.1 13 32338992 T C F S 1546 1546 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031495,pubmed:25394175,ClinVar:RCV000132332 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283880 13q13.1 13 32338994 G A D N 1547 1547 missense 0.026 benign 0.03 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000677831 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1428922464 13q13.1 13 32338998 A C E A 1548 1548 missense 0.615 possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230862 13q13.1 13 32338997 G A E K 1548 1548 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000791852 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358695 13q13.1 13 32339003 G T E * 1550 1550 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358695 13q13.1 13 32339003 G T E * 1550 1550 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:605724,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113326,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000009935,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044460,pubmed:25394175,ClinVar:RCV000571951 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660887 13q13.1 13 32339004 A C E A 1550 1550 missense 0.039 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568464 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660887 13q13.1 13 32339004 A G E G 1550 1550 missense 0.003 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000226204,pubmed:25394175,ClinVar:RCV000222967 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358695 13q13.1 13 32339003 G C E Q 1550 1550 missense 0.009 benign 0.43 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358695 13q13.1 13 32339003 G C E Q 1550 1550 missense 0.009 benign 0.43 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000210981 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876661062 13q13.1 13 32339006 C T Q * 1551 1551 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661550,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637577 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs876661062 13q13.1 13 32339006 C G Q E 1551 1551 missense 0.011 benign 0.25 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1391223943 13q13.1 13 32339007 A G Q R 1551 1551 missense 0.059 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566456 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358696 13q13.1 13 32339010 G A G D 1552 1552 missense 0.001 benign 0.53 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000527633 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230890 13q13.1 13 32339009 G A G S 1552 1552 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000687114 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358696 13q13.1 13 32339010 G T G V 1552 1552 missense 0.139 benign 0.49 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113327 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358697 13q13.1 13 32339013 C T T I 1553 1553 missense 0.0 benign 0.21 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113329 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358697 13q13.1 13 32339013 C G T S 1553 1553 missense 0.038 benign 0.75 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs276174845 13q13.1 13 32339017 T G S R 1554 1554 missense 0.172 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077332,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044465,pubmed:25394175,ClinVar:RCV000166993 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661225 13q13.1 13 32339016 G C S T 1554 1554 missense 0.5 possibly damaging 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000823127 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230921 13q13.1 13 32339024 A G T A 1557 1557 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775967 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358698 13q13.1 13 32339025 C T T I 1557 1557 missense 0.044 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 ClinVar:RCV000735554,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233033,pubmed:25394175,ClinVar:RCV000565644 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358698 13q13.1 13 32339025 C G T S 1557 1557 missense 0.079 benign 0.43 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs587782822 13q13.1 13 32339027 A C S R 1558 1558 missense 0.138 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000411787,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000542360,pubmed:25394175,ClinVar:RCV000132397 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502411 13q13.1 13 32339031 T G F C 1559 1559 missense 0.646 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466045,pubmed:25394175,ClinVar:RCV000509834 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230938 13q13.1 13 32339033 A G S G 1560 1560 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777475 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs2219594 13q13.1 13 32339036 C A H N 1561 1561 missense 0.059 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077334,pubmed:25394175,ClinVar:RCV000128957 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs397507737 13q13.1 13 32339039 C T Q * 1562 1562 stop gained -1.0 unknown -1.0 unknown 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661788 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs544688816 13q13.1 13 32339040 A C Q P 1562 1562 missense 0.848 possibly damaging 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697106,pubmed:25394175,ClinVar:RCV000218490 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs544688816 13q13.1 13 32339040 A G Q R 1562 1562 missense 0.043 benign 0.25 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496660 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs886038108 13q13.1 13 32339044 G A W * 1563 1563 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241224,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000698636 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs886038108 13q13.1 13 32339044 G T W C 1563 1563 missense 0.082 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622546 13q13.1 13 32339043 G T W L 1563 1563 missense 0.0 benign 0.34 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204911 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566230953 13q13.1 13 32339045 G T A S 1564 1564 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000796263,pubmed:25394175,ClinVar:RCV000771673 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs587782522 13q13.1 13 32339050 G T K N 1565 1565 missense 0.23 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239158,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000200646,pubmed:25394175,ClinVar:RCV000131707 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283904 13q13.1 13 32339051 A G T A 1566 1566 missense 0.005 benign 0.6 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531715,pubmed:25394175,ClinVar:RCV000581333 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs863224589 13q13.1 13 32339059 G T K N 1568 1568 missense 0.127 benign 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000196983 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358699 13q13.1 13 32339058 A G K R 1568 1568 missense 0.559 possibly damaging 0.14 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113334 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853585 13q13.1 13 32339062 C A Y * 1569 1569 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661533,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000227511 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283910 COSM946809 13q13.1 13 32339061 A G Y C 1569 1569 missense 0.753 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567150 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502472 13q13.1 13 32339064 G A R K 1570 1570 missense 0.015 benign 0.32 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472081 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs431825322 13q13.1 13 32339068 G C E D 1571 1571 missense 0.012 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs766833528 13q13.1 13 32339067 A G E G 1571 1571 missense 0.012 benign 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs766833528 13q13.1 13 32339067 A T E V 1571 1571 missense 0.642 possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1266192644 13q13.1 13 32339069 G A A T 1572 1572 missense 0.007 benign 0.51 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs56249050 13q13.1 13 32339073 G T C F 1573 1573 missense 0.413 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs56054233 13q13.1 13 32339072 T C C R 1573 1573 missense 0.776 possibly damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772751 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56249050 13q13.1 13 32339073 G A C Y 1573 1573 missense 0.015 benign 0.41 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782013 13q13.1 13 32339078 G A D N 1575 1575 missense 0.363 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130438 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs587782013 13q13.1 13 32339078 G T D Y 1575 1575 missense 0.847 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs758051329 13q13.1 13 32339081 C G L V 1576 1576 missense 0.253 benign 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853586 13q13.1 13 32339084 G C E Q 1577 1577 missense 0.786 possibly damaging 0.24 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233214 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358700 13q13.1 13 32339087 T G L V 1578 1578 missense 0.093 benign 0.11 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113339 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566231045 13q13.1 13 32339090 G C A P 1579 1579 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000703403 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283920 13q13.1 13 32339091 C T A V 1579 1579 missense 0.007 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545121,pubmed:25394175,ClinVar:RCV000562970 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122784 13q13.1 13 32339094 G A C Y 1580 1580 missense 0.015 benign 0.27 tolerated 0 Breast cancer (BC) A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs368952892 13q13.1 13 32339096 G A E K 1581 1581 missense 0.159 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031501,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637419,pubmed:25394175,ClinVar:RCV000165611 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs368952892 13q13.1 13 32339096 G C E Q 1581 1581 missense 0.897 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs746821851 13q13.1 13 32339100 C T T I 1582 1582 missense 0.676 possibly damaging 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56072130 13q13.1 13 32339102 A T I F 1583 1583 missense 0.161 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082931,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000702595,pubmed:25394175,ClinVar:RCV000130034 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283929 13q13.1 13 32339104 T G I M 1583 1583 missense 0.393 benign 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637647 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566231072 13q13.1 13 32339103 T C I T 1583 1583 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772262 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56072130 13q13.1 13 32339102 A G I V 1583 1583 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216123 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs56137239 13q13.1 13 32339114 G A A T 1587 1587 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166660 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283930 13q13.1 13 32339115 C T A V 1587 1587 missense 0.015 benign 0.27 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660366 13q13.1 13 32339120 C G P A 1589 1589 missense 0.253 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213837 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs781130788 13q13.1 13 32339126 T C C R 1591 1591 missense 0.001 benign 0.33 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283933 13q13.1 13 32339127 G C C S 1591 1591 missense 0.009 benign 0.46 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564816 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs781130788 13q13.1 13 32339126 T A C S 1591 1591 missense 0.009 benign 0.46 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697730,pubmed:25394175,ClinVar:RCV000772046 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs886040548 13q13.1 13 32339129 A T K * 1592 1592 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257518,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496852 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs886040548 13q13.1 13 32339129 A G K E 1592 1592 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358703 13q13.1 13 32339134 A C E D 1593 1593 missense 0.122 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658930 13q13.1 13 32339137 G T M I 1594 1594 missense 0.007 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222181 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881533 13q13.1 13 32339136 T G M R 1594 1594 missense 0.522 possibly damaging 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040549 13q13.1 13 32339138 C T Q * 1595 1595 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256632 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502499 13q13.1 13 32339140 G T Q H 1595 1595 missense 0.537 possibly damaging 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476642 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786201184 13q13.1 13 32339139 A C Q P 1595 1595 missense 0.963 probably damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203834,pubmed:25394175,ClinVar:RCV000163035 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283935 13q13.1 13 32339144 T G S A 1597 1597 missense 0.474 possibly damaging 0.27 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637772 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660146 13q13.1 13 32339145 C G S C 1597 1597 missense 0.273 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218551 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660146 COSM946811 13q13.1 13 32339145 C A S Y 1597 1597 missense 0.067 benign 0.62 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000800220,pubmed:25394175,ClinVar:RCV000584306 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202703 13q13.1 13 32339150 A G N D 1599 1599 missense 0.003 benign 0.77 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695549,pubmed:25394175,ClinVar:RCV000165644 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs149759218 13q13.1 13 32339151 A G N S 1599 1599 missense 0.012 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238876,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000230978,pubmed:25394175,ClinVar:RCV000222382 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs774484160 13q13.1 13 32339153 A G N D 1600 1600 missense 0.171 benign 0.62 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000456945,pubmed:25394175,ClinVar:RCV000567251 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358704 13q13.1 13 32339157 A G D G 1601 1601 missense 0.204 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113344,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044495,pubmed:25394175,ClinVar:RCV000572672 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs748358660 13q13.1 13 32339156 G C D H 1601 1601 missense 0.652 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358704 13q13.1 13 32339157 A T D V 1601 1601 missense 0.01 benign 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000536692 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566231167 13q13.1 13 32339159 A G K E 1602 1602 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701471 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs890665355 13q13.1 13 32339163 A T N I 1603 1603 missense 0.138 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709312,pubmed:25394175,ClinVar:RCV000563820 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs773591333 13q13.1 13 32339165 C T L F 1604 1604 missense 0.012 benign 0.36 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs773591333 13q13.1 13 32339165 C G L V 1604 1604 missense 0.135 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510102 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622426 13q13.1 13 32339169 T C V A 1605 1605 missense 0.529 possibly damaging 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205282 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786201175 13q13.1 13 32339168 G A V I 1605 1605 missense 0.034 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637639,pubmed:25394175,ClinVar:RCV000162834 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659853 13q13.1 13 32339172 C G S C 1606 1606 missense 0.0 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221205 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566231183 13q13.1 13 32339175 T C I T 1607 1607 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774998 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs200582465 13q13.1 13 32339174 A G I V 1607 1607 missense 0.0 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031507,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233915,pubmed:25394175,ClinVar:RCV000221891 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566231194 13q13.1 13 32339177 G T E * 1608 1608 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000780037 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs766855850 13q13.1 13 32339178 A C E A 1608 1608 missense 0.061 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876659201 13q13.1 13 32339180 A G T A 1609 1609 missense 0.287 benign 0.21 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000763889,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763889,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763889,ClinVar:RCV000763889,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459523,pubmed:25394175,ClinVar:RCV000220835,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763889,ClinVar:RCV000763889,ClinVar:RCV000763889,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763889 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358705 13q13.1 13 32339183 G A V M 1610 1610 missense 0.694 possibly damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130783 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283950 13q13.1 13 32339187 T C V A 1611 1611 missense 0.087 benign 0.53 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574024 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283948 13q13.1 13 32339186 G T V L 1611 1611 missense 0.053 benign 0.81 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000540740 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs764834875 13q13.1 13 32339190 C T P L 1612 1612 missense 0.003 benign 0.28 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000813798 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1479815532 13q13.1 13 32339189 C T P S 1612 1612 missense 0.319 benign 0.5 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1360725610 13q13.1 13 32339193 C T P L 1613 1613 missense 0.994 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583819 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358706 13q13.1 13 32339195 A G K E 1614 1614 missense 0.026 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113349,pubmed:25394175,ClinVar:RCV000510015 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122786 13q13.1 13 32339202 T G L * 1616 1616 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077734 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs876659259 13q13.1 13 32339203 A C L F 1616 1616 missense 0.615 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs397507341 13q13.1 13 32339205 G T S I 1617 1617 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776794 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507341 13q13.1 13 32339205 G A S N 1617 1617 missense 0.037 benign 0.24 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697920 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358707 13q13.1 13 32339204 A C S R 1617 1617 missense 0.172 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113351,pubmed:25394175,ClinVar:RCV000165988 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358708 13q13.1 13 32339209 T A D E 1618 1618 missense 0.539 possibly damaging 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077339,pubmed:25394175,ClinVar:RCV000222179 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358709 13q13.1 13 32339211 A T N I 1619 1619 missense 0.474 possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575598 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358709 13q13.1 13 32339211 A G N S 1619 1619 missense 0.007 benign 0.48 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113352,pubmed:25394175,ClinVar:RCV000773266 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358710 13q13.1 13 32339214 T G L * 1620 1620 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113353,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496625 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs976841328 13q13.1 13 32339215 A C L F 1620 1620 missense 0.046 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs730881534 13q13.1 13 32339217 G T C F 1621 1621 missense 0.003 benign 0.61 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572608 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1060502419 13q13.1 13 32339216 T G C G 1621 1621 missense 0.05 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459778,pubmed:25394175,ClinVar:RCV000580354 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1060502419 13q13.1 13 32339216 T C C R 1621 1621 missense 0.007 benign 0.3 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs730881534 13q13.1 13 32339217 G A C Y 1621 1621 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622427 13q13.1 13 32339220 G C R T 1622 1622 missense 0.015 benign 0.14 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206190 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs75381894 13q13.1 13 32339223 A C Q P 1623 1623 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776972 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs781045037 13q13.1 13 32339226 C G T S 1624 1624 missense 0.031 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1300992894 13q13.1 13 32339229 A C E A 1625 1625 missense 0.297 benign 0.25 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs587782754 13q13.1 13 32339228 G A E K 1625 1625 missense 0.075 benign 0.45 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144218,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000468942,pubmed:25394175,ClinVar:RCV000132268 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283968 13q13.1 13 32339231 A C N H 1626 1626 missense 0.043 benign 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637532 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs879255455 13q13.1 13 32339240 A G T A 1629 1629 missense 0.075 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238790,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000792720,pubmed:25394175,ClinVar:RCV000582227 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781581 13q13.1 13 32339241 C T T I 1629 1629 missense 0.3 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129619 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358711 13q13.1 13 32339244 C G S * 1630 1630 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077340,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044512,pubmed:25394175,ClinVar:RCV000131080 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358711 13q13.1 13 32339244 C A S * 1630 1630 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257254 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358711 13q13.1 13 32339244 C T S L 1630 1630 missense 0.072 benign 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637475 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283977 13q13.1 13 32339243 T C S P 1630 1630 missense 0.104 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561809 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs748213879 13q13.1 13 32339246 A G K E 1631 1631 missense 0.005 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781573 13q13.1 13 32339247 A T K I 1631 1631 missense 0.5 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129607 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs748213879 13q13.1 13 32339246 A C K Q 1631 1631 missense 0.096 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568201 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358712 13q13.1 13 32339249 A C S R 1632 1632 missense 0.444 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113354,pubmed:25394175,ClinVar:RCV000164849 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1028371302 13q13.1 13 32339254 C G I M 1633 1633 missense 0.185 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358714 13q13.1 13 32339253 T A I N 1633 1633 missense 0.018 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113356,pubmed:25394175,ClinVar:RCV000165405 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358714 13q13.1 13 32339253 T C I T 1633 1633 missense 0.197 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220621 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358713 13q13.1 13 32339252 A G I V 1633 1633 missense 0.012 benign 0.41 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113355,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044516 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283982 13q13.1 13 32339255 T C F L 1634 1634 missense 0.003 benign 0.16 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637663 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358715 13q13.1 13 32339256 T C F S 1634 1634 missense 0.001 benign 1.0 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113357 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038110 13q13.1 13 32339259 T A L * 1635 1635 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241354 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507342 13q13.1 13 32339260 G T L F 1635 1635 missense 0.596 possibly damaging 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031511,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000461109,pubmed:25394175,ClinVar:RCV000581537 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122788 13q13.1 13 32339261 A G K E 1636 1636 missense 0.017 benign 0.52 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077737,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000231152,pubmed:25394175,ClinVar:RCV000166671,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240716 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507343 13q13.1 13 32339265 T G V G 1637 1637 missense 0.922 probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031512,pubmed:25394175,ClinVar:RCV000130557 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040553 13q13.1 13 32339267 A T K * 1638 1638 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257313,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700312 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs886040553 COSM73857 13q13.1 13 32339267 A G K E 1638 1638 missense 0.098 benign 0.38 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774220 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs771425987 13q13.1 13 32339268 A C K T 1638 1638 missense 0.81 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358716 13q13.1 13 32339270 G A V I 1639 1639 missense 0.389 benign 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044519 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358716 13q13.1 13 32339270 G C V L 1639 1639 missense 0.273 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573642 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs373483754 13q13.1 13 32339274 A C H P 1640 1640 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000808987,pubmed:25394175,ClinVar:RCV000773732 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs373483754 13q13.1 13 32339274 A G H R 1640 1640 missense 0.012 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583557 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs765892492 13q13.1 13 32339273 C T H Y 1640 1640 missense 0.037 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772752 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566231364 13q13.1 13 32339276 G T E * 1641 1641 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000779928 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,dbSNP,gnomAD rs80358718 13q13.1 13 32339280 A C N T 1642 1642 missense 0.073 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083110,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044522,pubmed:25394175,ClinVar:RCV000570694 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs28897731 13q13.1 13 32339283 T C V A 1643 1643 missense 0.196 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs879254182 13q13.1 13 32339282 G A V I 1643 1643 missense 0.044 benign 0.94 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs879254182 13q13.1 13 32339282 G T V L 1643 1643 missense 0.079 benign 0.51 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555283989 13q13.1 13 32339285 G C E Q 1644 1644 missense 0.701 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509788 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358719 13q13.1 13 32339288 A T K * 1645 1645 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113359 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs886038111 13q13.1 13 32339291 G T E * 1646 1646 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241191 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs762394148 13q13.1 13 32339292 A C E A 1646 1646 missense 0.702 possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs886038111 13q13.1 13 32339291 G A E K 1646 1646 missense 0.388 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA rs773286595 13q13.1 13 32339291 G - E K 1646 1646 frameshift -1.0 unknown -1.0 unknown 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1449458592 13q13.1 13 32339298 C A A E 1648 1648 missense 0.124 benign 0.82 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202248 13q13.1 13 32339297 G A A T 1648 1648 missense 0.03 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000769698,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239162,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637534,pubmed:25394175,ClinVar:RCV000164966 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1449458592 13q13.1 13 32339298 C T A V 1648 1648 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773190 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,gnomAD rs763743962 13q13.1 13 32339300 A G K E 1649 1649 missense 0.005 benign 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs565268514 13q13.1 13 32339307 C T P L 1651 1651 2.0E-4 missense 0.979 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs565268514 13q13.1 13 32339307 C G P R 1651 1651 missense 0.986 probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637644 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs751176412 13q13.1 13 32339306 C T P S 1651 1651 missense 0.55 possibly damaging 0.19 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358720 13q13.1 13 32339309 G C A P 1652 1652 missense 0.015 benign 0.1 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113362 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782186 13q13.1 13 32339312 A G T A 1653 1653 missense 0.017 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000210984,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637549,pubmed:25394175,ClinVar:RCV000130816 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284004 13q13.1 13 32339313 C T T I 1653 1653 missense 0.029 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057518638 13q13.1 13 32339317 T A C * 1654 1654 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661485,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000414119 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659012 13q13.1 13 32339315 T G C G 1654 1654 missense 0.281 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218439 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358721 13q13.1 13 32339320 C R Y * 1655 1655 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113363 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358721 13q13.1 13 32339320 C G Y * 1655 1655 stop gained 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031517,ClinVar:RCV000194794,ClinVar:RCV000762918,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000762918,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000194794,ClinVar:RCV000762918,ClinVar:RCV000762918,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195354,pubmed:25394175,ClinVar:RCV000128925,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000762918,ClinVar:RCV000762918,ClinVar:RCV000785221,ClinVar:RCV000762918,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000762918 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358721 13q13.1 13 32339320 C A Y * 1655 1655 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083111,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496256 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs779995827 13q13.1 13 32339321 A C T P 1656 1656 missense 0.776 possibly damaging 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659777 13q13.1 13 32339322 C G T R 1656 1656 missense 0.027 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222139 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781599 13q13.1 13 32339324 A G N D 1657 1657 missense 0.025 benign 0.36 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000530830,pubmed:25394175,ClinVar:RCV000129665 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781599 13q13.1 13 32339324 A C N H 1657 1657 missense 0.866 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474260,pubmed:25394175,ClinVar:RCV000165819 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502382 13q13.1 13 32339325 A G N S 1657 1657 missense 0.026 benign 0.29 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459262 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs886038114 13q13.1 13 32339327 C T Q * 1658 1658 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241136 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825324 13q13.1 13 32339330 T G S A 1659 1659 missense 0.137 benign 0.58 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082933,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545723,pubmed:25394175,ClinVar:RCV000215418 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1222542759 13q13.1 13 32339331 C T S F 1659 1659 missense 0.005 benign 0.35 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1222542759 13q13.1 13 32339331 C A S Y 1659 1659 missense 0.283 benign 0.26 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507345 13q13.1 13 32339334 C T P L 1660 1660 missense 0.962 probably damaging 0.22 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031518,pubmed:25394175,ClinVar:RCV000166270 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060499833 13q13.1 13 32339338 T G Y * 1661 1661 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000469488 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs730881535 13q13.1 13 32339336 T C Y H 1661 1661 missense 0.373 benign 0.54 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772753 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040559 13q13.1 13 32339340 C G S * 1662 1662 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256529 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040559 13q13.1 13 32339340 C T S L 1662 1662 missense 0.548 possibly damaging 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581612 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502436 13q13.1 13 32339343 T C V A 1663 1663 missense 0.001 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000461650,pubmed:25394175,ClinVar:RCV000775807 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs587781763 13q13.1 13 32339342 G T V F 1663 1663 missense 0.382 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587781763 13q13.1 13 32339342 G A V I 1663 1663 missense 0.133 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704315,pubmed:25394175,ClinVar:RCV000574969 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587781763 13q13.1 13 32339342 G C V L 1663 1663 missense 0.026 benign 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167888 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224590 13q13.1 13 32339346 T C I T 1664 1664 missense 0.02 benign 0.95 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198889,pubmed:25394175,ClinVar:RCV000571680 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs777981245 13q13.1 13 32339349 A G E G 1665 1665 missense 0.017 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000549907,pubmed:25394175,ClinVar:RCV000567060 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1485384156 13q13.1 13 32339348 G A E K 1665 1665 missense 0.03 benign 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs747191784 13q13.1 13 32339351 A G N D 1666 1666 missense 0.007 benign 0.45 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1344419982 13q13.1 13 32339352 A G N S 1666 1666 missense 0.087 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507346 13q13.1 13 32339355 C G S * 1667 1667 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031519,pubmed:25394175,ClinVar:RCV000582842 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358724 13q13.1 13 32339358 C G A G 1668 1668 missense 0.373 benign 0.22 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113367 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587782182 13q13.1 13 32339357 G C A P 1668 1668 missense 0.026 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233949,pubmed:25394175,ClinVar:RCV000772343 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587782182 13q13.1 13 32339357 G A A T 1668 1668 missense 0.476 possibly damaging 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000821456,pubmed:25394175,ClinVar:RCV000130804 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284032 13q13.1 13 32339361 T G L * 1669 1669 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs771336341 13q13.1 13 32339360 T A L I 1669 1669 missense 0.797 possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566231551 13q13.1 13 32339364 C T A V 1670 1670 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622073 13q13.1 13 32339371 C G Y * 1672 1672 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241039,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204412,pubmed:25394175,ClinVar:RCV000569880 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs781671762 13q13.1 13 32339369 T C Y H 1672 1672 missense 0.138 benign 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000560184 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed rs376249157 13q13.1 13 32339373 C T T I 1673 1673 missense 0.924 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs746274489 13q13.1 13 32339372 A C T P 1673 1673 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509933 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs746274489 13q13.1 13 32339372 A T T S 1673 1673 missense 0.99 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358725 13q13.1 13 32339375 A G S G 1674 1674 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129669 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660602 13q13.1 13 32339376 G C S T 1674 1674 missense 0.039 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000816027,pubmed:25394175,ClinVar:RCV000218484 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs370591460 13q13.1 13 32339380 T A C * 1675 1675 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566981 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786201420 13q13.1 13 32339378 T C C R 1675 1675 missense 0.003 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 ClinVar:RCV000761155,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000534065,pubmed:25394175,ClinVar:RCV000163597 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660686 13q13.1 13 32339382 G A S N 1676 1676 missense 0.339 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220171 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203719 13q13.1 13 32339381 A C S R 1676 1676 missense 0.713 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000814106,pubmed:25394175,ClinVar:RCV000167143 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs762458631 13q13.1 13 32339383 T A S R 1676 1676 missense 0.713 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs375304428 13q13.1 13 32339385 G T R I 1677 1677 missense 0.007 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203901 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,gnomAD rs375304428 13q13.1 13 32339385 G A R K 1677 1677 missense 0.003 benign 0.39 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs28897733 13q13.1 13 32339388 A G K R 1678 1678 missense 0.149 benign 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs28897733 13q13.1 13 32339388 A C K T 1678 1678 missense 0.486 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000548988,pubmed:25394175,ClinVar:RCV000564353 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358728 13q13.1 13 32339390 A G T A 1679 1679 missense 0.009 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144584,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701101,pubmed:25394175,ClinVar:RCV000509635 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358728 13q13.1 13 32339390 A C T P 1679 1679 missense 0.0 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113369,pubmed:25394175,ClinVar:RCV000214875 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284041 COSM946815 13q13.1 13 32339394 C A S Y 1680 1680 missense 0.933 possibly damaging, probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574179 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs41293493 13q13.1 13 32339400 G A S N 1682 1682 missense 0.017 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000526805,pubmed:25394175,ClinVar:RCV000217172 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs41293493 13q13.1 13 32339400 G C S T 1682 1682 missense 0.356 benign 0.18 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122913 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284044 13q13.1 13 32339402 C T Q * 1683 1683 stop gained 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000541691,pubmed:25394175,ClinVar:RCV000581690 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782738 13q13.1 13 32339403 A T Q L 1683 1683 missense 0.205 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000231764,pubmed:25394175,ClinVar:RCV000132240 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358729 13q13.1 13 32339406 C G T S 1684 1684 missense 0.009 benign 0.22 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113371 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122791 13q13.1 13 32339409 C G S * 1685 1685 stop gained 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000805797,pubmed:25394175,ClinVar:RCV000582926 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122791 13q13.1 13 32339409 C A S * 1685 1685 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077740,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000802160 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038115 13q13.1 13 32339412 T A L * 1686 1686 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241249 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1408726129 13q13.1 13 32339414 C T L F 1687 1687 missense 0.003 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284052 13q13.1 13 32339417 G A E K 1688 1688 missense 0.017 benign 0.42 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573634 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs767200163 13q13.1 13 32339420 G A A T 1689 1689 missense 0.297 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56087561 13q13.1 13 32339425 A C K N 1690 1690 missense 0.624 possibly damaging 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113374 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038116 13q13.1 13 32339426 A T K * 1691 1691 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241008 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs760482209 13q13.1 13 32339428 A T K N 1691 1691 missense 0.301 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284058 13q13.1 13 32339430 G A W * 1692 1692 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637341 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566231669 13q13.1 13 32339429 T A W R 1692 1692 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689387 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs200265692 13q13.1 13 32339435 A T R * 1694 1694 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031525 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs200265692 13q13.1 13 32339435 A G R G 1694 1694 missense 0.138 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165787 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs753721331 13q13.1 13 32339436 G T R I 1694 1694 missense 0.522 possibly damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000625751 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs753721331 13q13.1 13 32339436 G A R K 1694 1694 missense 0.003 benign 0.25 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000461678 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs753721331 13q13.1 13 32339436 G C R T 1694 1694 missense 0.038 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167215 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507347 13q13.1 13 32339439 A G E G 1695 1695 missense 0.026 benign 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031526,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000805560 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs938190132 13q13.1 13 32339438 G A E K 1695 1695 missense 0.044 benign 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507347 13q13.1 13 32339439 A T E V 1695 1695 missense 0.802 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569626 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401904 13q13.1 13 32339442 G T G V 1696 1696 missense 0.973 probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496779 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1224120349 13q13.1 13 32339448 T C F S 1698 1698 missense 0.005 benign 0.28 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358732 13q13.1 13 32339451 A G D G 1699 1699 1.9999999494757503E-4 missense 0.105 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113377,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044553,pubmed:25394175,ClinVar:RCV000130603 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs80358731 13q13.1 13 32339450 G A D N 1699 1699 missense 0.105 benign 0.21 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044552 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs80358731 13q13.1 13 32339450 G T D Y 1699 1699 5.99E-4 missense 0.978 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358733 13q13.1 13 32339453 G A G S 1700 1700 missense 0.003 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113378,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044554,pubmed:25394175,ClinVar:RCV000221190 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507758 13q13.1 13 32339456 C T Q * 1701 1701 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256540,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000500448 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853587 13q13.1 13 32339458 A C Q H 1701 1701 missense 0.071 benign 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000234682 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs751709685 13q13.1 13 32339457 A C Q P 1701 1701 missense 0.786 possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs80358734 13q13.1 13 32339459 C T P S 1702 1702 missense 0.205 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113379,pubmed:25394175,ClinVar:RCV000214445 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358735 13q13.1 13 32339462 G T E * 1703 1703 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113381,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496356 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs746177907 13q13.1 13 32339463 A C E A 1703 1703 missense 0.968 probably damaging 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358735 13q13.1 13 32339462 G C E Q 1703 1703 missense 0.948 probably damaging 0.09 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113380 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795652 13q13.1 13 32339465 A T R * 1704 1704 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661851 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795652 13q13.1 13 32339465 A G R G 1704 1704 missense 0.062 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566771 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs878853588 13q13.1 13 32339470 A G I M 1705 1705 missense 0.124 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000228444,pubmed:25394175,ClinVar:RCV000571938 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358737 13q13.1 13 32339468 A G I V 1705 1705 missense 0.03 benign 0.35 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083112,pubmed:25394175,ClinVar:RCV000130471 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs730881536 13q13.1 13 32339472 A G N S 1706 1706 missense 0.06 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881536 13q13.1 13 32339472 A C N T 1706 1706 missense 0.637 possibly damaging 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000607894 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358738 13q13.1 13 32339474 A G T A 1707 1707 missense 0.12 benign 1.0 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113383 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786202354 13q13.1 13 32339475 C T T I 1707 1707 missense 0.297 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709315,pubmed:25394175,ClinVar:RCV000165119 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1376024712 13q13.1 13 32339478 C T A V 1708 1708 missense 0.027 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202836 13q13.1 13 32339481 A C D A 1709 1709 missense 0.209 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637498,pubmed:25394175,ClinVar:RCV000165854 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202836 13q13.1 13 32339481 A G D G 1709 1709 missense 0.061 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000627120 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122792 13q13.1 13 32339480 G T D Y 1709 1709 missense 0.029 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077741,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206087,pubmed:25394175,ClinVar:RCV000213126 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566231778 13q13.1 13 32339485 T G Y * 1710 1710 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000709714 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782067 13q13.1 13 32339486 G A V I 1711 1711 missense 0.127 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000797822,pubmed:25394175,ClinVar:RCV000130552 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661056 13q13.1 13 32339489 G T G * 1712 1712 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661386,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462700,pubmed:25394175,ClinVar:RCV000566954 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1453037467 13q13.1 13 32339490 G A G E 1712 1712 missense 0.388 benign 0.51 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566231796 13q13.1 13 32339496 A T Y F 1714 1714 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566231804 13q13.1 13 32339500 G C L F 1715 1715 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695099 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1064793634 13q13.1 13 32339499 T C L S 1715 1715 missense 0.006 benign 0.52 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570188 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1064793634 13q13.1 13 32339499 T G L W 1715 1715 missense 0.754 possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs893978143 13q13.1 13 32339504 G A E K 1717 1717 missense 0.044 benign 0.9 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000525891 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358739 13q13.1 13 32339508 A G N S 1718 1718 missense 0.02 benign 0.32 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570495 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1179768667 13q13.1 13 32339511 A T N I 1719 1719 missense 0.036 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122794 13q13.1 13 32339510 A T N Y 1719 1719 missense 0.601 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077743,pubmed:25394175,ClinVar:RCV000580987 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358740 13q13.1 13 32339514 C A S * 1720 1720 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238884,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459811,pubmed:25394175,ClinVar:RCV000131919 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358740 13q13.1 13 32339514 C G S * 1720 1720 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113390 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1443102794 13q13.1 13 32339516 A G N D 1721 1721 missense 0.007 benign 0.32 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689790 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358741 13q13.1 13 32339519 A T S C 1722 1722 missense 0.914 probably damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031529,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637658,pubmed:25394175,ClinVar:RCV000218602 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs773707172 13q13.1 13 32339520 G T S I 1722 1722 missense 0.843 possibly damaging 0.25 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs773707172 13q13.1 13 32339520 G A S N 1722 1722 missense 0.017 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566232 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358742 13q13.1 13 32339522 A G T A 1723 1723 missense 0.092 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113392,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044582,pubmed:25394175,ClinVar:RCV000167513 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358742 13q13.1 13 32339522 A C T P 1723 1723 missense 0.596 possibly damaging 0.03 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113391 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358742 13q13.1 13 32339522 A T T S 1723 1723 missense 0.019 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773976 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358743 13q13.1 13 32339526 T C I T 1724 1724 missense 0.073 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131403 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs35335654 13q13.1 13 32339525 A G I V 1724 1724 missense 0.079 benign 0.66 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082938 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358744 13q13.1 13 32339537 G A D N 1728 1728 missense 0.067 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113395,pubmed:25394175,ClinVar:RCV000220094 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs772860507 13q13.1 13 32339541 A G K R 1729 1729 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777045 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs772860507 13q13.1 13 32339541 A C K T 1729 1729 missense 0.99 probably damaging 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474437,pubmed:25394175,ClinVar:RCV000772754 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs766080044 13q13.1 13 32339544 A G N S 1730 1730 missense 0.036 benign 0.53 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000554468 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507770 13q13.1 13 32339543 A T N Y 1730 1730 missense 0.782 possibly damaging 0.09 tolerated 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000576951 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358745 13q13.1 13 32339546 C A H N 1731 1731 missense 0.237 benign 0.26 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077348,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167854 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs765259371 13q13.1 13 32339547 A G H R 1731 1731 missense 0.786 possibly damaging 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358745 13q13.1 13 32339546 C T H Y 1731 1731 missense 0.017 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239258,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637528,pubmed:25394175,ClinVar:RCV000566864 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs786202208 13q13.1 13 32339550 T C L P 1732 1732 missense 0.007 benign 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558082 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55639415 13q13.1 13 32339553 C T S F 1733 1733 missense 0.379 benign 0.03 deleterious 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:227650 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000273833 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202543 13q13.1 13 32339555 G T E * 1734 1734 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000240986 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1243093278 13q13.1 13 32339557 A C E D 1734 1734 missense 0.366 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637330,pubmed:25394175,ClinVar:RCV000575961 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202543 13q13.1 13 32339555 G A E K 1734 1734 missense 0.018 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165399 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202543 13q13.1 13 32339555 G C E Q 1734 1734 missense 0.712 possibly damaging 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509857 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1200008651 13q13.1 13 32339556 A T E V 1734 1734 missense 0.72 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037802 13q13.1 13 32339561 C T Q * 1736 1736 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661397,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000546284,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240691 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1183489363 13q13.1 13 32339562 A G Q R 1736 1736 missense 0.673 possibly damaging 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587778120 13q13.1 13 32339565 A T D V 1737 1737 missense 0.826 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284106 13q13.1 13 32339564 G T D Y 1737 1737 missense 0.952 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579493 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876658357 13q13.1 13 32339567 A T T S 1738 1738 missense 0.127 benign 0.83 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216747 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358746 13q13.1 13 32339572 T A Y * 1739 1739 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113399 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs750671399 13q13.1 13 32339575 A C L F 1740 1740 missense 0.38 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166604 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232001 13q13.1 13 32339576 A G S G 1741 1741 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776931 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284119 13q13.1 13 32339577 G C S T 1741 1741 missense 0.236 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573047 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs756463217 13q13.1 13 32339580 A T N I 1742 1742 missense 0.578 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:227650,MIM:604370 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000382610,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000325274,pubmed:25394175,ClinVar:RCV000509611 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1057522266 13q13.1 13 32339581 C A N K 1742 1742 missense 0.086 benign 0.24 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782714 13q13.1 13 32339583 G A S N 1743 1743 missense 0.017 benign 0.67 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239058,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637755,pubmed:25394175,ClinVar:RCV000132192 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587778121 13q13.1 13 32339585 A G S G 1744 1744 missense 0.381 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782060 13q13.1 13 32339586 G T S I 1744 1744 missense 0.323 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000410002,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198995,pubmed:25394175,ClinVar:RCV000130537 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202206 13q13.1 13 32339588 A G M V 1745 1745 missense 0.041 benign 0.61 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000792468,pubmed:25394175,ClinVar:RCV000164911 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825328 13q13.1 13 32339594 A G N D 1747 1747 missense 0.012 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082939,pubmed:25394175,ClinVar:RCV000581287 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284128 13q13.1 13 32339595 A C N T 1747 1747 missense 0.637 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567424 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs398122528 13q13.1 13 32339599 C A S R 1748 1748 missense 0.887 possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076926,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000528928,pubmed:25394175,ClinVar:RCV000569062 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232050 13q13.1 13 32339602 T G Y * 1749 1749 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775314 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232050 13q13.1 13 32339602 T G Y * 1749 1749 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000722069 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs55828982 13q13.1 13 32339601 A G Y C 1749 1749 missense 0.001 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658731 13q13.1 13 32339600 T G Y D 1749 1749 missense 0.579 possibly damaging 0.21 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564773 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658731 13q13.1 13 32339600 T C Y H 1749 1749 missense 0.499 benign, probably damaging 0.5 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218601 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358748 13q13.1 13 32339604 C T S F 1750 1750 missense 0.03 benign 0.73 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113410,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044619,pubmed:25394175,ClinVar:RCV000130265 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284133 13q13.1 13 32339608 C A Y * 1751 1751 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661861 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1341974678 13q13.1 13 32339607 A C Y S 1751 1751 missense 0.005 benign 0.39 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573459 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1428422813 13q13.1 13 32339610 A G H R 1752 1752 missense 0.474 possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs80358749 13q13.1 13 32339609 C T H Y 1752 1752 missense 0.003 benign 0.12 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113411 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232073 13q13.1 13 32339613 C T S F 1753 1753 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772526 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs772772727 13q13.1 13 32339616 A C D A 1754 1754 missense 0.061 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs772772727 13q13.1 13 32339616 A G D G 1754 1754 missense 0.037 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637713,pubmed:25394175,ClinVar:RCV000510048 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs771571938 13q13.1 13 32339615 G C D H 1754 1754 missense 0.047 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs771571938 13q13.1 13 32339615 G A D N 1754 1754 missense 0.012 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773243 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040584 13q13.1 13 32339618 G T E * 1755 1755 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256902 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs770664957 13q13.1 13 32339622 T A V E 1756 1756 missense 0.516 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216072 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs876659138 13q13.1 13 32339621 G A V I 1756 1756 missense 0.027 benign 0.73 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659138 13q13.1 13 32339621 G C V L 1756 1756 missense 0.005 benign 0.3 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221851 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs876659138 13q13.1 13 32339621 G T V L 1756 1756 missense 0.005 benign 0.3 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284139 13q13.1 13 32339626 T A Y * 1757 1757 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637580 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587776466 13q13.1 13 32339625 A G Y C 1757 1757 missense 0.012 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144187,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000232494,pubmed:25394175,ClinVar:RCV000164644 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP rs80358750 13q13.1 13 32339627 A G N D 1758 1758 missense 0.001 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113413,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044624,pubmed:25394175,ClinVar:RCV000562802 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502456 13q13.1 13 32339630 G C D H 1759 1759 missense 1.0 probably damaging 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000468148 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358751 13q13.1 13 32339634 C G S * 1760 1760 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113414,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044625,pubmed:25394175,ClinVar:RCV000131074 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs28897735 13q13.1 13 32339633 T G S A 1760 1760 missense 0.705 possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131676 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs28897735 13q13.1 13 32339633 T A S T 1760 1760 missense 0.833 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038122 13q13.1 13 32339636 G T G * 1761 1761 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241157,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637612,pubmed:25394175,ClinVar:RCV000772133 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358752 13q13.1 13 32339637 G C G A 1761 1761 missense 0.753 possibly damaging 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358752 13q13.1 13 32339637 G A G E 1761 1761 missense 0.209 benign 0.61 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083115,pubmed:25394175,ClinVar:RCV000129736 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358754 13q13.1 13 32339641 T A Y * 1762 1762 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113417,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000781162 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358753 13q13.1 13 32339640 A G Y C 1762 1762 missense 0.997 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000818067,pubmed:25394175,ClinVar:RCV000567861 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1192019733 13q13.1 13 32339639 T G Y D 1762 1762 missense 0.986 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706689,pubmed:25394175,ClinVar:RCV000575439 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1192019733 13q13.1 13 32339639 T C Y H 1762 1762 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000702897 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1192019733 13q13.1 13 32339639 T A Y N 1762 1762 missense 0.981 probably damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358753 13q13.1 13 32339640 A C Y S 1762 1762 missense 0.979 probably damaging 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113416,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044627,pubmed:25394175,ClinVar:RCV000566469 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507778 13q13.1 13 32339646 C G S * 1764 1764 stop gained 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577424 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255458 13q13.1 13 32339648 A T K * 1765 1765 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238810 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs879255458 13q13.1 13 32339648 A G K E 1765 1765 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772792 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174856 13q13.1 13 32339653 T A N K 1766 1766 missense 0.557 possibly damaging 0.28 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284159 13q13.1 13 32339654 A G K E 1767 1767 missense 0.138 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1375943534 13q13.1 13 32339655 A G K R 1767 1767 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704116 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1375943534 13q13.1 13 32339655 A C K T 1767 1767 missense 0.021 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358755 13q13.1 13 32339667 G A G D 1771 1771 missense 0.072 benign 0.65 tolerated 0 Hereditary cancer-predisposing syndrome MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:25394175,ClinVar:RCV000162664 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1420648751 13q13.1 13 32339666 G A G S 1771 1771 missense 0.12 benign 0.28 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358755 13q13.1 13 32339667 G T G V 1771 1771 missense 0.885 possibly damaging 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 ClinVar:RCV000735563,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000228622,pubmed:25394175,ClinVar:RCV000580812 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232201 13q13.1 13 32339672 G A E K 1773 1773 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777419 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232201 13q13.1 13 32339672 G C E Q 1773 1773 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772421 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786203835 13q13.1 13 32339676 C T P L 1774 1774 missense 0.005 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637795,pubmed:25394175,ClinVar:RCV000167315 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284172 13q13.1 13 32339679 T C V A 1775 1775 missense 0.607 possibly damaging 0.29 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284171 13q13.1 13 32339678 G C V L 1775 1775 missense 0.477 possibly damaging 0.27 tolerated 0 Malignant tumor of esophagus MIM:133239 ClinVar:RCV000677836 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232213 13q13.1 13 32339682 T G L W 1776 1776 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691267,pubmed:25394175,ClinVar:RCV000777629 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881537 13q13.1 13 32339684 A G K E 1777 1777 missense 0.58 possibly damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825329 13q13.1 13 32339690 G A V I 1779 1779 missense 0.018 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082940,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000231399,pubmed:25394175,ClinVar:RCV000561227 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs748646927 13q13.1 13 32339698 T A D E 1781 1781 missense 0.978 probably damaging 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358756 13q13.1 13 32339697 A G D G 1781 1781 missense 0.645 possibly damaging 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113420,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044635,pubmed:25394175,ClinVar:RCV000214135 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs183478654 13q13.1 13 32339696 G A D N 1781 1781 missense 0.755 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000409214,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637785,pubmed:25394175,ClinVar:RCV000132288 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358757 13q13.1 13 32339699 C T Q * 1782 1782 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113422,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496507 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358757 13q13.1 13 32339699 C G Q E 1782 1782 missense 0.001 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132502 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358757 13q13.1 13 32339699 C A Q K 1782 1782 missense 0.0 benign 0.81 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113421,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044636 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs758959174 13q13.1 13 32339700 A C Q P 1782 1782 missense 0.306 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164770 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs758959174 13q13.1 13 32339700 A G Q R 1782 1782 missense 0.007 benign 1.0 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:25394175,ClinVar:RCV000777925,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240703 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284184 13q13.1 13 32339702 A G K E 1783 1783 missense 0.017 benign 0.31 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000541889 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1308950771 13q13.1 13 32339705 A C N H 1784 1784 missense 0.944 probably damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000552221,pubmed:25394175,ClinVar:RCV000573254 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202394 13q13.1 13 32339708 A G T A 1785 1785 missense 0.055 benign 0.12 tolerated 0 Inborn genetic diseases MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467313,pubmed:25394175,ClinVar:RCV000772755,pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25560141,pubmed:25626707,pubmed:25730230,ClinVar:RCV000165184 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284194 13q13.1 13 32339716 T G F L 1787 1787 missense 0.034 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509709 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782240 13q13.1 13 32339720 A T K * 1789 1789 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256720 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782240 13q13.1 13 32339720 A G K E 1789 1789 missense 0.001 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130942 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1275087046 13q13.1 13 32339722 A T K N 1789 1789 missense 0.273 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232328 13q13.1 13 32339723 G C V L 1790 1790 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1060502406 13q13.1 13 32339728 A G I M 1791 1791 missense 0.015 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000458614,pubmed:25394175,ClinVar:RCV000775800 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1214903860 13q13.1 13 32339726 A G I V 1791 1791 missense 0.001 benign 0.86 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284200 13q13.1 13 32339730 C A S Y 1792 1792 missense 0.564 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509849 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358759 13q13.1 13 32339733 A T N I 1793 1793 missense 0.0 benign 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545544 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358759 13q13.1 13 32339733 A G N S 1793 1793 missense 0.0 benign 0.41 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573455 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232357 13q13.1 13 32339739 A G K R 1795 1795 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793715 13q13.1 13 32339741 G T D Y 1796 1796 missense 0.847 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000555277 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358760 13q13.1 13 32339745 C G A G 1797 1797 missense 0.709 possibly damaging 0.09 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113425 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284208 13q13.1 13 32339747 A G N D 1798 1798 missense 0.017 benign 0.26 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637775 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232376 13q13.1 13 32339748 A G N S 1798 1798 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774853 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs770450108 13q13.1 13 32339751 C T A V 1799 1799 missense 0.009 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206075,pubmed:25394175,ClinVar:RCV000222205 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs780919805 13q13.1 13 32339755 C G Y * 1800 1800 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661414 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1060502429 13q13.1 13 32339757 C T P L 1801 1801 missense 0.074 benign 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459413 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1060502429 13q13.1 13 32339757 C A P Q 1801 1801 missense 0.152 benign 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1060502429 13q13.1 13 32339757 C G P R 1801 1801 missense 0.747 possibly damaging 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358763 13q13.1 13 32339759 C T Q * 1802 1802 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113426 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs139302211 13q13.1 13 32339761 A C Q H 1802 1802 missense 0.55 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165152 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358764 13q13.1 13 32339760 A T Q L 1802 1802 missense 0.966 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358764 13q13.1 13 32339760 A G Q R 1802 1802 missense 0.932 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083117,pubmed:25394175,ClinVar:RCV000575899 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs769627725 13q13.1 13 32339762 A G T A 1803 1803 missense 0.011 benign 0.32 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs370252983 13q13.1 13 32339766 T C V A 1804 1804 missense 0.034 benign 0.05 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:612555 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000624983 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284211 13q13.1 13 32339768 A G N D 1805 1805 missense 0.341 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358765 13q13.1 13 32339769 A G N S 1805 1805 missense 0.026 benign 0.2 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113427 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34351119 13q13.1 13 32339773 A C E D 1806 1806 missense 0.82 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573439 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284218 13q13.1 13 32339779 T G I M 1808 1808 missense 0.026 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569899 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507350 13q13.1 13 32339778 T C I T 1808 1808 missense 0.0 benign 0.67 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217283 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358766 COSM2071436 13q13.1 13 32339783 G A V I 1810 1810 1.9999999494757503E-4 missense 0.178 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214539 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284221 13q13.1 13 32339787 A C E A 1811 1811 missense 0.209 benign 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637592 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232430 13q13.1 13 32339786 G A E K 1811 1811 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777130 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358767 13q13.1 13 32339789 G T E * 1812 1812 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113430,pubmed:25394175,ClinVar:RCV000509828 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs754090538 13q13.1 13 32339791 A C E D 1812 1812 missense 0.253 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs80358767 13q13.1 13 32339789 G A E K 1812 1812 missense 0.003 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284228 13q13.1 13 32339792 C A L I 1813 1813 missense 0.373 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563793 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122532 13q13.1 13 32339793 T C L P 1813 1813 missense 0.017 benign 0.23 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076931,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000810148 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782031 13q13.1 13 32339799 C T T I 1815 1815 missense 0.148 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000800814,pubmed:25394175,ClinVar:RCV000130479 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232467 13q13.1 13 32339803 C A S R 1816 1816 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773574 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876658566 13q13.1 13 32339804 T G S A 1817 1817 missense 0.281 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216871 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs759741090 13q13.1 13 32339805 C G S C 1817 1817 missense 0.124 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs759741090 13q13.1 13 32339805 C T S F 1817 1817 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776665 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232471 13q13.1 13 32339808 C A S * 1818 1818 stop gained 0 Fanconi anemia, complementation group D1 (FANCD1) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:605724 pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000761285 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659214 13q13.1 13 32339811 C T P L 1819 1819 missense 0.011 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000811063,pubmed:25394175,ClinVar:RCV000222449 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358768 13q13.1 13 32339810 C T P S 1819 1819 missense 0.019 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000162505 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80358768 13q13.1 13 32339810 C A P T 1819 1819 missense 0.272 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232493 13q13.1 13 32339813 T C C R 1820 1820 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284235 13q13.1 13 32339814 G C C S 1820 1820 missense 0.049 benign 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637622 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284235 13q13.1 13 32339814 G A C Y 1820 1820 missense 0.124 benign 0.17 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000537912 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232503 13q13.1 13 32339816 A G K E 1821 1821 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773483 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284238 13q13.1 13 32339817 A G K R 1821 1821 missense 0.139 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571216 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781580 13q13.1 13 32339820 A T N I 1822 1822 missense 0.522 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000199798,pubmed:25394175,ClinVar:RCV000129617 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs76469517 13q13.1 13 32339821 T A N K 1822 1822 missense 0.197 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs751020759 13q13.1 13 32339824 A C K N 1823 1823 missense 0.571 possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174858 13q13.1 13 32339822 A C K Q 1823 1823 missense 0.571 possibly damaging 0.13 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113434 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC rs756797448 13q13.1 13 32339827 T G N K 1824 1824 missense 0.419 benign 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358769 13q13.1 13 32339826 A G N S 1824 1824 missense 0.122 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113435,pubmed:25394175,ClinVar:RCV000571132 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs745522949 13q13.1 13 32339828 G C A P 1825 1825 missense 0.007 benign 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507352 13q13.1 13 32339829 C T A V 1825 1825 missense 0.025 benign 0.93 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457281 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358770 13q13.1 13 32339834 A G I V 1827 1827 missense 0.02 benign 0.27 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113437,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044669 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255459 13q13.1 13 32339838 A G K R 1828 1828 missense 0.005 benign 0.26 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239105 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs779967765 13q13.1 13 32339842 G C L F 1829 1829 missense 0.379 benign 0.41 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs779967765 13q13.1 13 32339842 G T L F 1829 1829 missense 0.379 benign 0.41 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000456588,pubmed:25394175,ClinVar:RCV000574898,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240748 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782007 13q13.1 13 32339847 T C I T 1831 1831 missense 0.005 benign 0.48 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000409845,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459937,pubmed:25394175,ClinVar:RCV000130427 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138489917 13q13.1 13 32339850 C G S C 1832 1832 missense 0.373 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284247 13q13.1 13 32339849 T C S P 1832 1832 missense 0.026 benign 0.16 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000551329 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs138489917 13q13.1 13 32339850 C A S Y 1832 1832 missense 0.926 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782601 13q13.1 13 32339853 A G N S 1833 1833 missense 0.356 benign 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs760602053 13q13.1 13 32339855 A G S G 1834 1834 missense 0.156 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000799159,pubmed:25394175,ClinVar:RCV000570636 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358771 13q13.1 13 32339858 A G N D 1835 1835 missense 0.003 benign 0.49 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213098 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358772 13q13.1 13 32339860 T G N K 1835 1835 missense 0.012 benign 0.31 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113441 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1282916502 13q13.1 13 32339859 A G N S 1835 1835 missense 0.01 benign 0.44 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700320 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358774 13q13.1 13 32339863 T G N K 1836 1836 missense 0.713 possibly damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044675,pubmed:25394175,ClinVar:RCV000130155 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358773 13q13.1 13 32339862 A C N T 1836 1836 missense 0.253 benign 0.05 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113442,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044674 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs776630512 13q13.1 13 32339870 G A V I 1839 1839 missense 0.02 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637668,pubmed:25394175,ClinVar:RCV000574973 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122533 13q13.1 13 32339873 G C G R 1840 1840 missense 0.16 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076933,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000464863,pubmed:25394175,ClinVar:RCV000510044 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1331207836 13q13.1 13 32339880 C T P L 1842 1842 missense 0.691 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777584 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs863224594 13q13.1 13 32339882 G T A S 1843 1843 missense 0.702 possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs863224594 13q13.1 13 32339882 G A A T 1843 1843 missense 0.359 benign 0.2 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198130 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1294545669 13q13.1 13 32339888 A G R G 1845 1845 missense 0.0 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000806176,pubmed:25394175,ClinVar:RCV000561760 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786201997 13q13.1 13 32339890 G C R S 1845 1845 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637602,pubmed:25394175,ClinVar:RCV000164573 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853590 13q13.1 13 32339893 A G I M 1846 1846 missense 0.269 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000225936 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs763330257 13q13.1 13 32339892 T G I R 1846 1846 missense 0.053 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs763330257 13q13.1 13 32339892 T C I T 1846 1846 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165182 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782375 13q13.1 13 32339891 A G I V 1846 1846 missense 0.009 benign 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233290 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232630 13q13.1 13 32339895 C G A G 1847 1847 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772874 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs764527357 13q13.1 13 32339901 G C G A 1849 1849 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772380 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs764527357 13q13.1 13 32339901 G A G D 1849 1849 missense 0.779 possibly damaging 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284257 13q13.1 13 32339900 G A G S 1849 1849 missense 0.591 possibly damaging 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510089 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284265 13q13.1 13 32339906 A T I F 1851 1851 missense 0.66 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570605 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs573514896 13q13.1 13 32339908 C G I M 1851 1851 missense 0.095 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239014,pubmed:25394175,ClinVar:RCV000215045 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358776 13q13.1 13 32339907 T G I S 1851 1851 missense 0.457 possibly damaging 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195371 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs483352930 13q13.1 13 32339910 T A V D 1852 1852 missense 0.843 possibly damaging 0.09 tolerated 1 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000114983 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358777 13q13.1 13 32339909 G T V F 1852 1852 missense 0.788 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358777 13q13.1 13 32339909 G A V I 1852 1852 missense 0.018 benign 0.26 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031554,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044680 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358777 13q13.1 13 32339909 G C V L 1852 1852 missense 0.052 benign 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1238686039 13q13.1 13 32339912 T C C R 1853 1853 missense 0.096 benign 0.35 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038125 13q13.1 13 32339919 C A S * 1855 1855 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241296 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232680 13q13.1 13 32339922 A G H R 1856 1856 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690379 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs755791142 13q13.1 13 32339921 C T H Y 1856 1856 missense 0.609 possibly damaging 0.52 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358778 13q13.1 13 32339924 G T E * 1857 1857 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113444,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496399 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs779878000 13q13.1 13 32339927 A G T A 1858 1858 missense 0.001 benign 0.7 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566232699 13q13.1 13 32339928 C A T K 1858 1858 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706735 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507354 13q13.1 13 32339930 A G I V 1859 1859 missense 0.06 benign 0.79 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031555,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229983,pubmed:25394175,ClinVar:RCV000166864 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825332 13q13.1 13 32339933 A T K * 1860 1860 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082944,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637590,pubmed:25394175,ClinVar:RCV000164633 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825332 13q13.1 13 32339933 A G K E 1860 1860 missense 0.169 benign 0.38 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637562,pubmed:25394175,ClinVar:RCV000573798 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs431825332 13q13.1 13 32339933 A C K Q 1860 1860 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775823 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284280 13q13.1 13 32339934 A G K R 1860 1860 missense 0.105 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571620 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284282 13q13.1 13 32339936 A G K E 1861 1861 missense 0.535 possibly damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581655 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202808 13q13.1 13 32339946 A G D G 1864 1864 missense 0.0 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000412174,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000820675,pubmed:25394175,ClinVar:RCV000165818 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587781536 13q13.1 13 32339945 G A D N 1864 1864 missense 0.0 benign 0.03 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000456720,pubmed:25394175,ClinVar:RCV000129542,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240784 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781455 13q13.1 13 32339948 A G I V 1865 1865 missense 0.007 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129385 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358779 13q13.1 13 32339951 T C F L 1866 1866 missense 0.209 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113447,pubmed:25394175,ClinVar:RCV000165388 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1170821828 13q13.1 13 32339958 A G D G 1868 1868 missense 0.106 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358781 13q13.1 13 32339957 G A D N 1868 1868 missense 0.772 possibly damaging 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000692500,pubmed:25394175,ClinVar:RCV000509970 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358781 13q13.1 13 32339957 G T D Y 1868 1868 missense 0.959 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113448,pubmed:25394175,ClinVar:RCV000129963 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659256 13q13.1 13 32339960 A G S G 1869 1869 missense 0.209 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218600 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284296 13q13.1 13 32339961 G A S N 1869 1869 missense 0.005 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637799 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659256 13q13.1 13 32339960 A C S R 1869 1869 missense 0.363 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509694 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401908 13q13.1 13 32339964 T G F C 1870 1870 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562493 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060504598 13q13.1 13 32339965 C G F L 1870 1870 missense 0.0 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510119 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401908 13q13.1 13 32339964 T A F Y 1870 1870 missense 0.003 benign 0.24 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358782 13q13.1 13 32339967 G A S N 1871 1871 missense 0.003 benign 0.72 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077355,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044695 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358783 13q13.1 13 32339969 A T K * 1872 1872 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113450,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044696,pubmed:25394175,ClinVar:RCV000162926 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040600 13q13.1 13 32339978 A T K * 1875 1875 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256547 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1316343192 13q13.1 13 32339980 G T K N 1875 1875 missense 0.012 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000550120,pubmed:25394175,ClinVar:RCV000776720 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782583 13q13.1 13 32339979 A G K R 1875 1875 missense 0.06 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688314,pubmed:25394175,ClinVar:RCV000131917 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs587782583 13q13.1 13 32339979 A C K T 1875 1875 missense 0.363 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507793 13q13.1 13 32339981 G T E * 1876 1876 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241406,pubmed:25394175,ClinVar:RCV000129291 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs397507793 13q13.1 13 32339981 G A E K 1876 1876 missense 0.209 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637513,pubmed:25394175,ClinVar:RCV000164837 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284317 13q13.1 13 32339984 A G N D 1877 1877 missense 0.017 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562707 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs374326934 13q13.1 13 32339986 C G N K 1877 1877 missense 0.138 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507358 13q13.1 13 32339987 A G N D 1878 1878 missense 0.003 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000817294,pubmed:25394175,ClinVar:RCV000581757 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358784 13q13.1 13 32339989 C A N K 1878 1878 missense 0.109 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358784 13q13.1 13 32339989 C G N K 1878 1878 missense 0.109 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs397507358 13q13.1 13 32339987 A T N Y 1878 1878 missense 0.273 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55996097 13q13.1 13 32339990 G T E * 1879 1879 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241263,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706650,pubmed:25394175,ClinVar:RCV000165477 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122536 13q13.1 13 32339991 A G E G 1879 1879 missense 0.007 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076936,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000200011,pubmed:25394175,ClinVar:RCV000571155 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55996097 13q13.1 13 32339990 G A E K 1879 1879 missense 0.03 benign 0.23 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077357 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11571657 13q13.1 13 32339995 T G N K 1880 1880 missense 0.287 benign 0.02 deleterious 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000735568 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1302337975 13q13.1 13 32339994 A G N S 1880 1880 missense 0.009 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs398122537 13q13.1 13 32339997 A T K I 1881 1881 missense 0.857 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358785 13q13.1 13 32340000 C A S * 1882 1882 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358785 13q13.1 13 32340000 C G S * 1882 1882 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358785 13q13.1 13 32340000 C G S * 1882 1882 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358785 13q13.1 13 32340000 C A S * 1882 1882 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358785 13q13.1 13 32340000 C G S * 1882 1882 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358785 13q13.1 13 32340000 C A S * 1882 1882 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358785 13q13.1 13 32340000 C G S * 1882 1882 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358785 COSM946826 13q13.1 13 32340000 C A S * 1882 1882 stop gained -1.0 unknown -1.0 unknown 0 Ovarian Neoplasms MIM:612555,MIM:114480,MIM:604370 ClinVar:RCV000735569,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031565,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000585709,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167830,pubmed:25394175,ClinVar:RCV000131114,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240722,ClinVar:RCV000785224 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358785 13q13.1 13 32340000 C G S * 1882 1882 stop gained -1.0 unknown -1.0 unknown 0 Glioma susceptibility 3 (GLM3) MIM:613029 ClinVar:RCV000009938 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358785 13q13.1 13 32340000 C G S * 1882 1882 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs730881538 13q13.1 13 32339999 T C S P 1882 1882 missense 0.991 probably damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 ClinVar:RCV000257958,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000806443,pubmed:25394175,ClinVar:RCV000772756 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358787 13q13.1 13 32340004 A C K N 1883 1883 missense 0.0 benign 0.38 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131541 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122538 13q13.1 13 32340005 A T I F 1884 1884 missense 0.212 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000795400,pubmed:25394175,ClinVar:RCV000130467 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs766067138 13q13.1 13 32340007 T G I M 1884 1884 missense 0.382 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358788 13q13.1 13 32340006 T C I T 1884 1884 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113453,pubmed:25394175,ClinVar:RCV000216526 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122538 13q13.1 13 32340005 A G I V 1884 1884 missense 0.026 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076939,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474428,pubmed:25394175,ClinVar:RCV000132469 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358789 13q13.1 13 32340010 C A C * 1885 1885 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031566,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044709,pubmed:25394175,ClinVar:RCV000220539 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660854 13q13.1 13 32340009 G T C F 1885 1885 missense 0.747 possibly damaging 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221787 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358790 13q13.1 13 32340011 C T Q * 1886 1886 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000735570,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113455,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044710,pubmed:25394175,ClinVar:RCV000446276 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202618 13q13.1 13 32340014 A G T A 1887 1887 missense 0.137 benign 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs397507795 COSM946828 13q13.1 13 32340015 C T T M 1887 1887 missense 0.144 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:114480,MIM:612555 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239329,pubmed:25394175,ClinVar:RCV000129439 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs397507795 13q13.1 13 32340015 C G T R 1887 1887 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000820814,pubmed:25394175,ClinVar:RCV000774367 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358791 13q13.1 13 32340018 A G K R 1888 1888 missense 0.043 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131719 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358792 13q13.1 13 32340020 A T I F 1889 1889 missense 0.708 possibly damaging 0.05 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113458 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358794 13q13.1 13 32340024 T C M T 1890 1890 missense 0.0 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113460,pubmed:25394175,ClinVar:RCV000574337 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358793 13q13.1 13 32340023 A G M V 1890 1890 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113459,pubmed:25394175,ClinVar:RCV000771296 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs397507360 13q13.1 13 32340027 C A A E 1891 1891 missense 0.087 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782644 13q13.1 13 32340026 G C A P 1891 1891 missense 0.69 possibly damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509858 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782644 13q13.1 13 32340026 G A A T 1891 1891 missense 0.013 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132043 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507360 13q13.1 13 32340027 C T A V 1891 1891 missense 0.281 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031568,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460706,pubmed:25394175,ClinVar:RCV000562290 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203948 13q13.1 13 32340029 G T G C 1892 1892 missense 0.019 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216717 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786204067 13q13.1 13 32340030 G A G D 1892 1892 missense 0.005 benign 0.35 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167952,pubmed:25394175,ClinVar:RCV000776356 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203948 13q13.1 13 32340029 G A G S 1892 1892 missense 0.096 benign 0.25 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695914,pubmed:25394175,ClinVar:RCV000167472 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203261 13q13.1 13 32340032 T G C G 1893 1893 missense 0.023 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166490 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs41293497 13q13.1 13 32340037 C G Y * 1894 1894 stop gained 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 ClinVar:RCV000735572,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031570,ClinVar:RCV000515199,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000515199,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000515199,ClinVar:RCV000515199,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044719,pubmed:25394175,ClinVar:RCV000131121,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000515199,ClinVar:RCV000515199,ClinVar:RCV000785225,pubmed:22964825,pubmed:24493721,ClinVar:RCV000148424,ClinVar:RCV000515199,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000515199 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs41293497 13q13.1 13 32340037 C A Y * 1894 1894 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113461,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496632,pubmed:25394175,ClinVar:RCV000131119 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs146351301 COSM1300156 13q13.1 13 32340038 G A E K 1895 1895 1.9999999494757503E-4 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131358 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs146351301 13q13.1 13 32340038 G C E Q 1895 1895 missense 0.313 benign 0.1 tolerated 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577205 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs730881539 13q13.1 13 32340042 C A A E 1896 1896 missense 0.726 possibly damaging 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168355 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358795 13q13.1 13 32340041 G C A P 1896 1896 missense 0.042 benign 0.05 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113462,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000818625 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs730881539 13q13.1 13 32340042 C T A V 1896 1896 missense 0.087 benign 0.37 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474407 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781826 13q13.1 13 32340046 G T L F 1897 1897 missense 0.328 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000798649,pubmed:25394175,ClinVar:RCV000130107 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658756 13q13.1 13 32340049 T G D E 1898 1898 missense 0.253 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000813129,pubmed:25394175,ClinVar:RCV000220876 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658786 13q13.1 13 32340048 A G D G 1898 1898 missense 0.015 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637792,pubmed:25394175,ClinVar:RCV000221842 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1476725701 13q13.1 13 32340047 G T D Y 1898 1898 missense 0.905 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000552807,pubmed:25394175,ClinVar:RCV000567107 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502461 13q13.1 13 32340051 A G D G 1899 1899 missense 0.341 benign 0.15 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462894 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs371189402 13q13.1 13 32340050 G A D N 1899 1899 missense 0.007 benign 0.85 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574011 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507797 13q13.1 13 32340054 C G S * 1900 1900 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661849,pubmed:25394175,ClinVar:RCV000215854 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507797 13q13.1 13 32340054 C A S * 1900 1900 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257227 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs773600818 13q13.1 13 32340057 A T E V 1901 1901 missense 0.756 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663324,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531229,pubmed:25394175,ClinVar:RCV000166961 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs4987048 13q13.1 13 32340059 G A D N 1902 1902 missense 0.105 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167833,pubmed:25394175,ClinVar:RCV000131020 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs4987048 13q13.1 13 32340059 G T D Y 1902 1902 missense 0.978 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696829,pubmed:25394175,ClinVar:RCV000167499 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825333 13q13.1 13 32340062 A C I L 1903 1903 missense 0.053 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082945,pubmed:25394175,ClinVar:RCV000562326 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP rs149474191 13q13.1 13 32340063 T C I T 1903 1903 missense 0.138 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509850 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825333 13q13.1 13 32340062 A G I V 1903 1903 missense 0.053 benign 0.39 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000791836,pubmed:25394175,ClinVar:RCV000220000 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55875643 13q13.1 13 32340065 C T L F 1904 1904 missense 0.0 benign 0.9 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113465 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658494 13q13.1 13 32340066 T A L H 1904 1904 missense 0.473 possibly damaging 0.4 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663230,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000232933,pubmed:25394175,ClinVar:RCV000220859 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55875643 13q13.1 13 32340065 C G L V 1904 1904 missense 0.037 benign 1.0 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000148433 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358796 13q13.1 13 32340069 A T H L 1905 1905 missense 0.133 benign 0.67 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082946,pubmed:25394175,ClinVar:RCV000571260 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358796 13q13.1 13 32340069 A G H R 1905 1905 missense 0.015 benign 0.38 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130620 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284372 13q13.1 13 32340072 A G N S 1906 1906 missense 0.757 possibly damaging 0.3 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000560373 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs753445027 13q13.1 13 32340074 T G S A 1907 1907 missense 0.036 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561520 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284376 13q13.1 13 32340075 C T S F 1907 1907 missense 0.132 benign 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529732 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs753445027 13q13.1 13 32340074 T A S T 1907 1907 missense 0.253 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220788 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358797 13q13.1 13 32340078 T C L P 1908 1908 missense 0.005 benign 0.33 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031572 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358798 13q13.1 13 32340081 A G D G 1909 1909 missense 0.044 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113471,pubmed:25394175,ClinVar:RCV000213615 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs764827027 13q13.1 13 32340080 G C D H 1909 1909 missense 0.967 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs764827027 13q13.1 13 32340080 G A D N 1909 1909 missense 0.836 possibly damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215216 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs276174863 13q13.1 13 32340084 A T N I 1910 1910 missense 0.039 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457400,pubmed:25394175,ClinVar:RCV000132401 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP,gnomAD rs276174863 COSM1322914 13q13.1 13 32340084 A G N S 1910 1910 missense 0.0 benign 0.8 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113473,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044733,pubmed:25394175,ClinVar:RCV000213160 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP rs367823201 13q13.1 13 32340088 T G D E 1911 1911 missense 0.012 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204074 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs200943373 13q13.1 13 32340087 A G D G 1911 1911 missense 0.037 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132049 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs200943373 13q13.1 13 32340087 A T D V 1911 1911 missense 0.642 possibly damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507800 13q13.1 13 32340089 G T E * 1912 1912 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257767 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233116 13q13.1 13 32340091 A C E D 1912 1912 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000685985 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507800 13q13.1 13 32340089 G A E K 1912 1912 missense 0.396 benign 0.24 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507801 13q13.1 13 32340094 T A C * 1913 1913 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241195 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358799 13q13.1 13 32340092 T G C G 1913 1913 missense 0.001 benign 0.34 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130867 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358799 13q13.1 13 32340092 T C C R 1913 1913 missense 0.0 benign 0.39 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132499 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502460 13q13.1 13 32340093 G A C Y 1913 1913 missense 0.009 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000475767,pubmed:25394175,ClinVar:RCV000580620 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80358801 13q13.1 13 32340096 G T S I 1914 1914 missense 0.274 benign 0.43 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358801 13q13.1 13 32340096 G A S N 1914 1914 missense 0.514 possibly damaging 0.52 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358801 13q13.1 13 32340096 G C S T 1914 1914 missense 0.253 benign 0.48 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217425 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358802 13q13.1 13 32340098 A G T A 1915 1915 missense 0.015 benign 0.46 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113475 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs4987117 13q13.1 13 32340099 C T T M 1915 1915 missense 0.0 benign 0.64 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000119140,pubmed:25394175,ClinVar:RCV000128885 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284387 13q13.1 13 32340103 T G H Q 1916 1916 missense 0.026 benign 0.19 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825334 13q13.1 13 32340102 A G H R 1916 1916 missense 0.003 benign 0.32 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:601626,MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000761129,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082949,ClinVar:RCV000763890,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763890,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763890,ClinVar:RCV000763890,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000702374,pubmed:25394175,ClinVar:RCV000214692,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763890,ClinVar:RCV000763890,ClinVar:RCV000763890,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763890 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040609 13q13.1 13 32340105 C G S * 1917 1917 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000548883 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040609 13q13.1 13 32340105 C A S * 1917 1917 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257478 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358804 13q13.1 13 32340108 A G H R 1918 1918 missense 0.042 benign 0.42 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129155 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358803 13q13.1 13 32340107 C T H Y 1918 1918 missense 0.025 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044743 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233164 13q13.1 13 32340112 G T K N 1919 1919 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773451 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881540 13q13.1 13 32340118 T G F L 1921 1921 missense 0.015 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583693 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507361 13q13.1 13 32340119 G T A S 1922 1922 missense 0.557 possibly damaging 0.61 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476228 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45491005 13q13.1 13 32340123 A C D A 1923 1923 missense 0.575 possibly damaging 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195306 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45491005 13q13.1 13 32340123 A T D V 1923 1923 missense 0.867 possibly damaging 0.06 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113480 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs779020831 13q13.1 13 32340125 A T I F 1924 1924 missense 0.786 possibly damaging 0.14 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581357 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs779020831 13q13.1 13 32340125 A G I V 1924 1924 missense 0.053 benign 0.13 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000230760 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358806 13q13.1 13 32340128 C T Q * 1925 1925 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113482,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496735,pubmed:25394175,ClinVar:RCV000579768 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358806 13q13.1 13 32340128 C G Q E 1925 1925 missense 0.065 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129311 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs869320795 13q13.1 13 32340132 G A S N 1926 1926 missense 0.036 benign 0.58 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570052 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs772324268 13q13.1 13 32340133 T A S R 1926 1926 missense 0.804 possibly damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164880 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038131 13q13.1 13 32340134 G T E * 1927 1927 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241079 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs773679288 13q13.1 13 32340136 A C E D 1927 1927 missense 0.015 benign 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs56253082 13q13.1 13 32340137 G T E * 1928 1928 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031577,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044754,pubmed:25394175,ClinVar:RCV000581432 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs431825335 13q13.1 13 32340139 A C E D 1928 1928 missense 0.209 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082950,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122919,pubmed:25394175,ClinVar:RCV000580238 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs56253082 13q13.1 13 32340137 G A E K 1928 1928 missense 0.061 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077360,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044753,pubmed:25394175,ClinVar:RCV000164827 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs765881070 13q13.1 13 32340142 T G I M 1929 1929 missense 0.36 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574262 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284396 13q13.1 13 32340141 T C I T 1929 1929 missense 0.025 benign 0.45 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000547354 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs79538375 13q13.1 13 32340140 A G I V 1929 1929 missense 0.005 benign 0.74 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507805 13q13.1 13 32340144 T G L * 1930 1930 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661451,pubmed:25394175,ClinVar:RCV000509941 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507805 13q13.1 13 32340144 T A L * 1930 1930 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257112 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1229615442 13q13.1 13 32340145 A C L F 1930 1930 missense 0.273 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507805 13q13.1 13 32340144 T C L S 1930 1930 missense 0.169 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566221 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358807 13q13.1 13 32340146 C T Q * 1931 1931 stop gained 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077361,ClinVar:RCV000763323,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763323,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763323,ClinVar:RCV000763323,pubmed:25394175,ClinVar:RCV000131105,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763323,ClinVar:RCV000763323,ClinVar:RCV000763323,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763323 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202537 13q13.1 13 32340147 A G Q R 1931 1931 missense 0.713 possibly damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165387 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233236 13q13.1 13 32340150 A T H L 1932 1932 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774402 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203515 13q13.1 13 32340151 T A H Q 1932 1932 missense 0.025 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166852 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853591 13q13.1 13 32340153 A G N S 1933 1933 missense 0.12 benign 0.12 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000234676 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040610 13q13.1 13 32340155 C T Q * 1934 1934 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257465 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358808 13q13.1 13 32340159 A G N S 1935 1935 missense 0.001 benign 1.0 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113486 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs759138390 13q13.1 13 32340163 G A M I 1936 1936 missense 0.02 benign 0.72 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165123 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1376128381 13q13.1 13 32340162 T C M T 1936 1936 missense 0.015 benign 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233265 13q13.1 13 32340161 A G M V 1936 1936 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695128 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1313592154 13q13.1 13 32340165 C T S F 1937 1937 missense 0.037 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs41293499 13q13.1 13 32340168 G C G A 1938 1938 missense 0.388 benign 0.32 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076942 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs764884869 13q13.1 13 32340167 G C G R 1938 1938 missense 0.477 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233278 13q13.1 13 32340173 G T E * 1940 1940 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709321 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284411 13q13.1 13 32340176 A C K Q 1941 1941 missense 0.007 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565696 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284415 13q13.1 13 32340185 A G K E 1944 1944 missense 0.001 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000638002 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358811 13q13.1 13 32340191 T C S P 1946 1946 missense 0.001 benign 0.36 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224595 13q13.1 13 32340195 C T P L 1947 1947 missense 0.087 benign 0.12 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000196364 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358812 13q13.1 13 32340194 C T P S 1947 1947 missense 0.03 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132548 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs757148516 13q13.1 13 32340198 G A C Y 1948 1948 missense 0.007 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825336 13q13.1 13 32340201 A G D G 1949 1949 missense 0.167 benign 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082951,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000461990 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358813 13q13.1 13 32340203 G A V I 1950 1950 missense 0.011 benign 0.3 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113493 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1212547389 13q13.1 13 32340206 A G S G 1951 1951 missense 0.026 benign 0.12 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637445 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs375064902 13q13.1 13 32340210 T A L * 1952 1952 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031583,pubmed:25394175,ClinVar:RCV000563543 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,gnomAD rs375064902 13q13.1 13 32340210 T G L W 1952 1952 missense 0.748 possibly damaging 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358814 13q13.1 13 32340212 G T E * 1953 1953 stop gained 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 ClinVar:RCV000313209,ClinVar:RCV000735575,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077363,ClinVar:RCV000515293,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000515293,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000515293,ClinVar:RCV000515293,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195356,pubmed:25394175,ClinVar:RCV000131117,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000515293,ClinVar:RCV000515293,ClinVar:RCV000515293,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000515293 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233345 13q13.1 13 32340215 A G T A 1954 1954 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 ClinVar:RCV000770728,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000812307 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502413 13q13.1 13 32340216 C T T I 1954 1954 missense 0.23 benign 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000473726 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502413 13q13.1 13 32340216 C G T S 1954 1954 missense 0.452 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510074 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358815 13q13.1 13 32340219 C A S * 1955 1955 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000735576,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077364,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044777,pubmed:25394175,ClinVar:RCV000162927 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358815 13q13.1 13 32340219 C G S * 1955 1955 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241225,pubmed:25394175,ClinVar:RCV000131666 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358815 13q13.1 13 32340219 C T S L 1955 1955 missense 0.372 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476307,pubmed:25394175,ClinVar:RCV000775930 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1309562690 13q13.1 13 32340222 A G D G 1956 1956 missense 0.007 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358816 13q13.1 13 32340221 G C D H 1956 1956 missense 0.138 benign 0.04 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113497 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1309562690 13q13.1 13 32340222 A T D V 1956 1956 missense 0.444 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637411,pubmed:25394175,ClinVar:RCV000563256 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233369 13q13.1 13 32340226 A G I M 1957 1957 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000702885 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782320 13q13.1 13 32340225 T C I T 1957 1957 missense 0.012 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476757,pubmed:25394175,ClinVar:RCV000131227 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358817 13q13.1 13 32340224 A G I V 1957 1957 missense 0.01 benign 0.85 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284436 13q13.1 13 32340227 T C C R 1958 1958 missense 0.027 benign 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637594 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1168669263 13q13.1 13 32340228 G A C Y 1958 1958 missense 0.011 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570705 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233377 13q13.1 13 32340233 T C C R 1960 1960 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000693579 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56157628 13q13.1 13 32340234 G A C Y 1960 1960 missense 0.026 benign 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167827 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358820 13q13.1 13 32340237 G T S I 1961 1961 missense 0.622 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358820 13q13.1 13 32340237 G A S N 1961 1961 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000128953 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs987442188 13q13.1 13 32340241 A G I M 1962 1962 missense 0.055 benign 0.47 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563919 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502377 13q13.1 13 32340240 T C I T 1962 1962 missense 0.006 benign 0.83 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564384 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs747406932 13q13.1 13 32340239 A G I V 1962 1962 missense 0.038 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637377 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659836 13q13.1 13 32340243 G A G E 1963 1963 missense 0.028 benign 0.28 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213567 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80358821 13q13.1 13 32340246 A T K M 1964 1964 missense 0.917 probably damaging 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs777289792 13q13.1 13 32340247 G T K N 1964 1964 missense 0.029 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284445 13q13.1 13 32340245 A C K Q 1964 1964 missense 0.454 possibly damaging 0.19 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637633 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358821 13q13.1 13 32340246 A G K R 1964 1964 missense 0.086 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113500,pubmed:25394175,ClinVar:RCV000575475 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122542 13q13.1 13 32340248 C T L F 1965 1965 missense 0.019 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215394 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358823 13q13.1 13 32340252 A T H L 1966 1966 missense 0.0 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579681 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358823 COSM3399343 13q13.1 13 32340252 A G H R 1966 1966 missense 0.0 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130475 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358822 13q13.1 13 32340251 C T H Y 1966 1966 missense 0.003 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131689 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs959089047 13q13.1 13 32340255 A T K M 1967 1967 missense 0.917 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000458121,pubmed:25394175,ClinVar:RCV000561855 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs959089047 13q13.1 13 32340255 A G K R 1967 1967 missense 0.029 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000553708,pubmed:25394175,ClinVar:RCV000563594 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782597 13q13.1 13 32340258 C T S L 1968 1968 missense 0.043 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000532143,pubmed:25394175,ClinVar:RCV000131945 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284455 13q13.1 13 32340257 T C S P 1968 1968 missense 0.062 benign 0.2 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637778 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233487 13q13.1 13 32340260 G A V I 1969 1969 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358824 13q13.1 13 32340264 C A S * 1970 1970 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000735577,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031588,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000257911,pubmed:25394175,ClinVar:RCV000131108 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358824 13q13.1 13 32340264 C G S * 1970 1970 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573759 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358824 13q13.1 13 32340264 C T S L 1970 1970 missense 0.019 benign 0.51 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031589,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000228606,pubmed:25394175,ClinVar:RCV000583874 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233504 13q13.1 13 32340266 T C S P 1971 1971 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000707701 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795405 13q13.1 13 32340269 G C A P 1972 1972 missense 0.104 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555284460 13q13.1 13 32340272 A G N D 1973 1973 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696858 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284460 13q13.1 13 32340272 A C N H 1973 1973 missense 0.959 probably damaging 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000791674 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs55730620 13q13.1 13 32340276 C T T I 1974 1974 missense 0.0 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358825 13q13.1 13 32340280 T A C * 1975 1975 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113503,pubmed:25394175,ClinVar:RCV000574746 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284462 13q13.1 13 32340278 T C C R 1975 1975 missense 0.013 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568115 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs767378196 13q13.1 13 32340279 G C C S 1975 1975 missense 0.041 benign 0.34 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000226437 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358825 13q13.1 13 32340280 T G C W 1975 1975 missense 0.769 possibly damaging 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113504 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs767378196 13q13.1 13 32340279 G A C Y 1975 1975 missense 0.007 benign 0.4 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571254 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs587782751 13q13.1 13 32340282 G A G E 1976 1976 missense 0.085 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782751 13q13.1 13 32340282 G T G V 1976 1976 missense 0.452 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663212,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203955,pubmed:25394175,ClinVar:RCV000132261 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233570 13q13.1 13 32340285 T A I N 1977 1977 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000687425 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233568 13q13.1 13 32340284 A G I V 1977 1977 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000771749 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622526 13q13.1 13 32340287 T G F V 1978 1978 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204715 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897737 13q13.1 13 32340292 C G S R 1979 1979 missense 0.881 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031590,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168414,pubmed:25394175,ClinVar:RCV000167183 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358827 13q13.1 13 32340294 C T T I 1980 1980 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113506,pubmed:25394175,ClinVar:RCV000565166 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs55877890 13q13.1 13 32340293 A C T P 1980 1980 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531811,pubmed:25394175,ClinVar:RCV000568300 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC rs28897738 13q13.1 13 32340300 G A S N 1982 1982 missense 0.864 possibly damaging 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs28897738 13q13.1 13 32340300 G C S T 1982 1982 missense 0.82 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113507,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203657,pubmed:25394175,ClinVar:RCV000510094 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284478 13q13.1 13 32340302 G A G R 1983 1983 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000794061 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs786201742 13q13.1 13 32340307 A C K N 1984 1984 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs781732299 13q13.1 13 32340306 A G K R 1984 1984 missense 0.999 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1272409475 13q13.1 13 32340309 C G S C 1985 1985 missense 0.997 probably damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580535 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358828 13q13.1 13 32340314 C T Q * 1987 1987 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113510,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496769,pubmed:25394175,ClinVar:RCV000567880 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs387907575 13q13.1 13 32340316 G T Q H 1987 1987 missense 0.018 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637728,pubmed:25394175,ClinVar:RCV000561617 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1364714267 13q13.1 13 32340315 A G Q R 1987 1987 missense 0.012 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs28897739 13q13.1 13 32340317 G A V I 1988 1988 missense 0.31 benign 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000477598 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038134 13q13.1 13 32340321 C G S * 1989 1989 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257524 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038134 13q13.1 13 32340321 C A S * 1989 1989 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241522 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs148618542 13q13.1 13 32340324 A C D A 1990 1990 missense 0.783 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076948,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460454,pubmed:25394175,ClinVar:RCV000223167 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1064794160 13q13.1 13 32340325 T G D E 1990 1990 missense 0.072 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776240 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs148618542 13q13.1 13 32340324 A G D G 1990 1990 missense 0.686 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168315,pubmed:25394175,ClinVar:RCV000567352 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233648 13q13.1 13 32340323 G A D N 1990 1990 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776818 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358829 13q13.1 13 32340327 C T A V 1991 1991 missense 0.021 benign 0.06 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113513,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000414292 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358830 13q13.1 13 32340330 C G S * 1992 1992 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257155 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358830 13q13.1 13 32340330 C T S L 1992 1992 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572935 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768242833 13q13.1 13 32340333 T G L * 1993 1993 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241170,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496287 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs768242833 13q13.1 13 32340333 T C L S 1993 1993 missense 0.997 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358831 13q13.1 13 32340335 C T Q * 1994 1994 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:114480,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031592,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000457725,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044810,pubmed:25394175,ClinVar:RCV000772034 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587783043 13q13.1 13 32340337 A T Q H 1994 1994 missense 0.999 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144585 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358832 13q13.1 13 32340336 A G Q R 1994 1994 missense 0.998 probably damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113515,pubmed:25394175,ClinVar:RCV000773142 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781552 13q13.1 13 32340339 A G N S 1995 1995 missense 0.0 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129566 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs80358834 COSM4929503 13q13.1 13 32340342 C G A G 1996 1996 missense 0.981 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167386 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358833 13q13.1 13 32340341 G T A S 1996 1996 missense 0.984 probably damaging 0.01 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031593,ClinVar:RCV000763892,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763892,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763892,ClinVar:RCV000763892,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637722,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763892,ClinVar:RCV000763892,ClinVar:RCV000763892,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763892 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358833 13q13.1 13 32340341 G A A T 1996 1996 0.00139999995008111 missense 0.8295 possibly damaging, probably damaging 0.08 tolerated 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:227650 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000318984 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358834 13q13.1 13 32340342 C T A V 1996 1996 missense 0.54 possibly damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113516 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284492 13q13.1 13 32340344 A G R G 1997 1997 missense 0.967 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561637 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793478 13q13.1 13 32340345 G A R K 1997 1997 missense 0.365 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507819 13q13.1 13 32340347 C T Q * 1998 1998 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257054 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507819 13q13.1 13 32340347 C G Q E 1998 1998 missense 0.615 possibly damaging 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220234 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358835 13q13.1 13 32340348 A C Q P 1998 1998 missense 0.92 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164697 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358835 13q13.1 13 32340348 A G Q R 1998 1998 missense 0.098 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113517,pubmed:25394175,ClinVar:RCV000580157 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284494 13q13.1 13 32340351 T A V E 1999 1999 missense 0.936 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563619 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881541 13q13.1 13 32340353 T G F V 2000 2000 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358837 13q13.1 13 32340363 T C I T 2003 2003 missense 0.03 benign 0.28 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113519,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044818 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622336 13q13.1 13 32340366 A G E G 2004 2004 missense 0.133 benign 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206127 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658259 13q13.1 13 32340369 A G D G 2005 2005 missense 0.046 benign 0.39 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691490,pubmed:25394175,ClinVar:RCV000214421 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587781760 13q13.1 13 32340368 G T D Y 2005 2005 missense 0.947 probably damaging 0.01 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000768158,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000768158,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000768158,ClinVar:RCV000768158,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472369,pubmed:25394175,ClinVar:RCV000129979,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000768158,ClinVar:RCV000768158,ClinVar:RCV000768158,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000768158 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507821 13q13.1 13 32340373 T A S R 2006 2006 missense 0.138 benign 0.03 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577337 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs144784912 13q13.1 13 32340372 G C S T 2006 2006 missense 0.119 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 ClinVar:RCV000735579,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204206,pubmed:25394175,ClinVar:RCV000570534 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507363 13q13.1 13 32340375 C A T N 2007 2007 missense 0.601 possibly damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031595,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000803896 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224467 13q13.1 13 32340377 A T K * 2008 2008 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241423,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195698 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs56324666 13q13.1 13 32340379 G C K N 2008 2008 missense 0.044 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000409077,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204438,pubmed:25394175,ClinVar:RCV000129322 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358838 13q13.1 13 32340380 C T Q * 2009 2009 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113520,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044821,pubmed:25394175,ClinVar:RCV000213281 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1285547765 13q13.1 13 32340381 A C Q P 2009 2009 missense 0.996 probably damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1285547765 13q13.1 13 32340381 A G Q R 2009 2009 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772961 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358839 13q13.1 13 32340384 T G V G 2010 2010 missense 0.113 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077367,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709322,pubmed:25394175,ClinVar:RCV000129746 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284504 13q13.1 13 32340383 G A V I 2010 2010 missense 0.015 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000560979 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358840 13q13.1 13 32340392 A T K * 2013 2013 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031597,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044827,pubmed:25394175,ClinVar:RCV000131111 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358840 13q13.1 13 32340392 A G K E 2013 2013 missense 0.025 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083121,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044826,pubmed:25394175,ClinVar:RCV000162633 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660593 13q13.1 13 32340393 A G K R 2013 2013 missense 0.419 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213457 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587776468 13q13.1 13 32340399 T A L * 2015 2015 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144189,pubmed:25394175,ClinVar:RCV000222461 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587776468 13q13.1 13 32340399 T C L S 2015 2015 missense 0.005 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469766,pubmed:25394175,ClinVar:RCV000581542 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040630 13q13.1 13 32340404 A T K * 2017 2017 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257874 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233796 13q13.1 13 32340408 G T S I 2018 2018 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000687254 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs147961615 13q13.1 13 32340412 C A N K 2019 2019 0.002396 missense 0.073 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358842 13q13.1 13 32340413 G T E * 2020 2020 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257323 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358842 COSM946834 13q13.1 13 32340413 G A E K 2020 2020 missense 0.324 benign, possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113521,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471466,pubmed:25394175,ClinVar:RCV000129466 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs780621780 13q13.1 13 32340417 A T H L 2021 2021 missense 0.462 possibly damaging 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs780621780 13q13.1 13 32340417 A G H R 2021 2021 missense 0.142 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165232 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233813 13q13.1 13 32340416 C T H Y 2021 2021 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706136 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358843 13q13.1 13 32340420 C G S * 2022 2022 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113522,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000503943,pubmed:25394175,ClinVar:RCV000217928 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1478738690 13q13.1 13 32340422 G C D H 2023 2023 missense 0.94 probably damaging 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1478738690 13q13.1 13 32340422 G T D Y 2023 2023 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696234 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358844 13q13.1 13 32340425 C T Q * 2024 2024 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113524,pubmed:25394175,ClinVar:RCV000162929 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233838 13q13.1 13 32340427 G T Q H 2024 2024 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701875 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358845 13q13.1 13 32340426 A G Q R 2024 2024 missense 0.021 benign 0.25 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113525,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044833 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1291441180 13q13.1 13 32340428 C G L V 2025 2025 missense 0.209 benign 0.46 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782249 13q13.1 13 32340431 A G T A 2026 2026 missense 0.542 possibly damaging 0.14 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130958 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1228610692 13q13.1 13 32340432 C T T I 2026 2026 missense 0.639 possibly damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358846 13q13.1 13 32340434 A G R G 2027 2027 missense 0.535 possibly damaging 0.24 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113528 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825337 13q13.1 13 32340435 G A R K 2027 2027 missense 0.013 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082953,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000794485,pubmed:25394175,ClinVar:RCV000772758 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507827 13q13.1 13 32340437 G T E * 2028 2028 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256860 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs747773227 13q13.1 13 32340439 A C E D 2028 2028 missense 0.99 probably damaging 0.35 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000458386 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284531 13q13.1 13 32340438 A G E G 2028 2028 missense 0.996 probably damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565096 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507828 13q13.1 13 32340440 G T E * 2029 2029 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256572,pubmed:25394175,ClinVar:RCV000565679,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000677859 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358847 13q13.1 13 32340441 A G E G 2029 2029 missense 0.007 benign 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113529 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284539 13q13.1 13 32340443 A G N D 2030 2030 missense 0.061 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696990,pubmed:25394175,ClinVar:RCV000574021 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502402 13q13.1 13 32340444 A G N S 2030 2030 missense 0.02 benign 0.45 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000465240 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658761 13q13.1 13 32340447 C G T S 2031 2031 missense 0.053 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217731 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203284 13q13.1 13 32340449 G T A S 2032 2032 missense 0.038 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565512 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203284 13q13.1 13 32340449 G A A T 2032 2032 missense 0.0 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000703786,pubmed:25394175,ClinVar:RCV000166519 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202701 13q13.1 13 32340450 C T A V 2032 2032 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229460,pubmed:25394175,ClinVar:RCV000165642 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs398122548 13q13.1 13 32340453 T A I K 2033 2033 missense 0.139 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076955,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469876,pubmed:25394175,ClinVar:RCV000217624 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358848 13q13.1 13 32340454 A G I M 2033 2033 missense 0.015 benign 0.3 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113531,pubmed:25394175,ClinVar:RCV000164759 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs772846629 13q13.1 13 32340452 A G I V 2033 2033 missense 0.007 benign 0.85 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1799954 13q13.1 13 32340455 C T R C 2034 2034 missense 0.54 possibly damaging 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044844 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,dbSNP,gnomAD rs80358849 COSM696739 13q13.1 13 32340456 G A R H 2034 2034 missense 0.0 benign 1.0 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083122 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1799954 13q13.1 13 32340455 C A R S 2034 2034 missense 0.043 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565684 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587782740 13q13.1 13 32340461 C G P A 2036 2036 missense 0.012 benign 0.14 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000541431 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1455395828 13q13.1 13 32340462 C G P R 2036 2036 missense 0.037 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587782740 13q13.1 13 32340461 C T P S 2036 2036 missense 0.062 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132243 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622740 13q13.1 13 32340466 A T E D 2037 2037 missense 0.023 benign 0.46 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205321,pubmed:25394175,ClinVar:RCV000580083 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795651 13q13.1 13 32340464 G A E K 2037 2037 missense 0.0 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000811660 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs587778123 13q13.1 13 32340467 C G H D 2038 2038 missense 0.062 benign 0.4 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs587778123 13q13.1 13 32340467 C A H N 2038 2038 missense 0.001 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203039 13q13.1 13 32340468 A G H R 2038 2038 missense 0.098 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000702688,pubmed:25394175,ClinVar:RCV000166172 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587778123 13q13.1 13 32340467 C T H Y 2038 2038 missense 0.395 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284559 13q13.1 13 32340471 T G L * 2039 2039 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000588279 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566233950 13q13.1 13 32340472 A C L F 2039 2039 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000685899 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs370026879 13q13.1 13 32340470 T A L I 2039 2039 missense 0.03 benign 0.28 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663027,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000468278,pubmed:25394175,ClinVar:RCV000132514 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP rs80358850 13q13.1 13 32340473 A T I L 2040 2040 missense 0.005 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113534,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044849,pubmed:25394175,ClinVar:RCV000129331 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781539 13q13.1 13 32340475 A G I M 2040 2040 missense 0.562 possibly damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129545 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659473 13q13.1 13 32340474 T C I T 2040 2040 missense 0.268 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467262,pubmed:25394175,ClinVar:RCV000216340 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP rs80358850 13q13.1 13 32340473 A G I V 2040 2040 missense 0.02 benign 0.47 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082954,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000416535,pubmed:25394175,ClinVar:RCV000165889 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1160083526 13q13.1 13 32340476 T C S P 2041 2041 missense 0.001 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000813354,pubmed:25394175,ClinVar:RCV000572108 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1160083526 13q13.1 13 32340476 T A S T 2041 2041 missense 0.133 benign 0.49 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000808364,pubmed:25394175,ClinVar:RCV000575027 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358851 13q13.1 13 32340479 C T Q * 2042 2042 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077369,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044850,pubmed:25394175,ClinVar:RCV000563525 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358852 13q13.1 13 32340480 A T Q L 2042 2042 missense 0.268 benign 0.38 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358852 13q13.1 13 32340480 A C Q P 2042 2042 missense 0.005 benign 0.4 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131951 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358852 13q13.1 13 32340480 A G Q R 2042 2042 missense 0.011 benign 0.66 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219164 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs56191579 13q13.1 13 32340486 G C G A 2044 2044 missense 0.007 benign 0.67 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044853 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs56191579 13q13.1 13 32340486 G A G D 2044 2044 missense 0.011 benign 0.78 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs56191579 13q13.1 13 32340486 G T G V 2044 2044 missense 0.339 benign 0.25 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000413633 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1466688245 13q13.1 13 32340496 T G Y * 2047 2047 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000781134 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881542 13q13.1 13 32340495 A G Y C 2047 2047 missense 0.003 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509812 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1367585890 13q13.1 13 32340497 A C N H 2048 2048 missense 0.978 probably damaging 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358853 13q13.1 13 32340498 A T N I 2048 2048 missense 0.92 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782775 13q13.1 13 32340499 T G N K 2048 2048 missense 0.823 possibly damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233381,pubmed:25394175,ClinVar:RCV000132308 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358853 13q13.1 13 32340498 A C N T 2048 2048 missense 0.169 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637735,pubmed:25394175,ClinVar:RCV000130782 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1276100299 13q13.1 13 32340500 G A V M 2049 2049 missense 0.061 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs767873595 13q13.1 13 32340504 T C V A 2050 2050 missense 0.132 benign 0.51 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573074 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs767873595 13q13.1 13 32340504 T G V G 2050 2050 missense 0.781 possibly damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358854 13q13.1 13 32340503 G A V I 2050 2050 missense 0.046 benign 0.55 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083123,ClinVar:RCV000763893,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763893,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763893,ClinVar:RCV000763893,pubmed:25394175,ClinVar:RCV000510133,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763893,ClinVar:RCV000763893,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240684,ClinVar:RCV000763893,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763893 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358854 13q13.1 13 32340503 G T V L 2050 2050 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284569 13q13.1 13 32340506 A G N D 2051 2051 missense 0.026 benign 0.54 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637423 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122549 13q13.1 13 32340507 A G N S 2051 2051 missense 0.044 benign 0.67 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076956,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203759,pubmed:25394175,ClinVar:RCV000222229 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202461 13q13.1 13 32340510 C G S * 2052 2052 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257714 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202461 13q13.1 13 32340510 C A S * 2052 2052 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241265,pubmed:25394175,ClinVar:RCV000165281 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234040 13q13.1 13 32340509 T G S A 2052 2052 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773676 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,NCI-TCGA,gnomAD rs562893642 13q13.1 13 32340512 T C S P 2053 2053 2.0E-4 missense 0.059 benign 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284574 13q13.1 13 32340513 C A S Y 2053 2053 missense 0.945 probably damaging 0.43 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564414 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358855 13q13.1 13 32340515 G C A P 2054 2054 missense 0.992 probably damaging 0.09 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113538 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358855 13q13.1 13 32340515 G A A T 2054 2054 missense 0.717 possibly damaging 0.21 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167216 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284579 13q13.1 13 32340520 C G F L 2055 2055 missense 0.746 possibly damaging 0.22 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563091 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358856 13q13.1 13 32340524 G T G * 2057 2057 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113540 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660308 13q13.1 13 32340525 G A G E 2057 2057 missense 1.0 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568900 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660308 13q13.1 13 32340525 G T G V 2057 2057 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637797,pubmed:25394175,ClinVar:RCV000213853 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs55973801 13q13.1 13 32340528 T G F C 2058 2058 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122920 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358857 13q13.1 13 32340527 T A F I 2058 2058 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044860,pubmed:25394175,ClinVar:RCV000129210 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587780657 13q13.1 13 32340531 G A S N 2059 2059 missense 0.028 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239311,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122921,pubmed:25394175,ClinVar:RCV000131374 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284585 13q13.1 13 32340536 G A A T 2061 2061 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529110 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs754353971 13q13.1 13 32340540 G A S N 2062 2062 missense 0.105 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507364 13q13.1 13 32340543 G A G E 2063 2063 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031604,pubmed:25394175,ClinVar:RCV000164734 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786202616 13q13.1 13 32340547 G C K N 2064 2064 missense 0.991 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509868 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658875 13q13.1 13 32340550 A C Q H 2065 2065 missense 0.071 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213428 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507365 13q13.1 13 32340551 G A V I 2066 2066 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031605,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476966,pubmed:25394175,ClinVar:RCV000132349 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,dbSNP rs143806921 13q13.1 13 32340554 T A S T 2067 2067 missense 0.539 possibly damaging 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031606,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700945,pubmed:25394175,ClinVar:RCV000509673 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs755523944 13q13.1 13 32340557 A T I F 2068 2068 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000795104,pubmed:25394175,ClinVar:RCV000772971 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs755523944 13q13.1 13 32340557 A G I V 2068 2068 missense 0.028 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358859 13q13.1 13 32340561 T G L * 2069 2069 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031607,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044867,pubmed:25394175,ClinVar:RCV000568590 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284596 13q13.1 13 32340565 A T E D 2070 2070 missense 0.958 probably damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509632 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793809 13q13.1 13 32340564 A G E G 2070 2070 missense 0.92 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509660 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358861 13q13.1 13 32340567 G T S I 2071 2071 missense 0.961 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113548,pubmed:25394175,ClinVar:RCV000215878 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358860 13q13.1 13 32340566 A C S R 2071 2071 missense 0.888 possibly damaging 0.04 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113547 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358861 13q13.1 13 32340567 G C S T 2071 2071 missense 0.716 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000532875,pubmed:25394175,ClinVar:RCV000220310 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358862 13q13.1 13 32340570 C G S C 2072 2072 missense 0.532 possibly damaging 0.0 deleterious 0 Breast cancer (BC) A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358862 13q13.1 13 32340570 C T S F 2072 2072 missense 0.431 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853594 13q13.1 13 32340569 T A S T 2072 2072 missense 0.075 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000226156 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358862 13q13.1 13 32340570 C A S Y 2072 2072 missense 0.528 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1197856646 13q13.1 13 32340573 T G L * 2073 2073 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs34309943 13q13.1 13 32340575 C A H N 2074 2074 missense 0.857 possibly damaging 0.36 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167838 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284601 13q13.1 13 32340577 C G H Q 2074 2074 missense 0.933 probably damaging 0.33 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000543074 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs34309943 13q13.1 13 32340575 C T H Y 2074 2074 0.002796 missense 0.925 probably damaging 0.8 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284602 13q13.1 13 32340578 A T K * 2075 2075 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574787 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP rs80358863 13q13.1 13 32340580 A C K N 2075 2075 missense 0.983 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130739 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs776348927 13q13.1 13 32340581 G A V I 2076 2076 missense 0.995 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs541826447 13q13.1 13 32340586 G C K N 2077 2077 missense 0.502 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122922 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs769883812 13q13.1 13 32340588 G A G E 2078 2078 missense 0.959 probably damaging 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637800 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284605 13q13.1 13 32340587 G C G R 2078 2078 missense 0.449 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000536621,pubmed:25394175,ClinVar:RCV000570040 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs769883812 13q13.1 13 32340588 G T G V 2078 2078 missense 0.978 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000821918 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622757 13q13.1 13 32340591 T A V E 2079 2079 missense 0.176 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206004 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs886037812 13q13.1 13 32340590 G C V L 2079 2079 missense 0.006 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs886037812 13q13.1 13 32340590 G T V L 2079 2079 missense 0.006 benign 0.02 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240796 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358864 13q13.1 13 32340594 T G L * 2080 2080 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113554 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876658993 13q13.1 13 32340593 T G L V 2080 2080 missense 0.948 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220359 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040642 13q13.1 13 32340599 G T E * 2082 2082 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257746,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000804427,pubmed:25394175,ClinVar:RCV000566202 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502474 13q13.1 13 32340601 A C E D 2082 2082 missense 0.995 probably damaging 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472820 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs774522471 13q13.1 13 32340603 T C F S 2083 2083 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622082 13q13.1 13 32340609 T G L * 2085 2085 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241368,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204636 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881579 13q13.1 13 32340610 A T L F 2085 2085 missense 0.031 benign 0.15 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000817081 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs761996223 13q13.1 13 32340608 T G L V 2085 2085 missense 0.084 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165245 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1060504611 13q13.1 13 32340613 C G I M 2086 2086 missense 0.184 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587783042 13q13.1 13 32340612 T C I T 2086 2086 missense 0.72 possibly damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144582,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704093 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037811 13q13.1 13 32340611 A G I V 2086 2086 missense 0.276 benign 0.03 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240795 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs767567428 13q13.1 13 32340618 C T T I 2088 2088 missense 0.917 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000487865,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000464688,pubmed:25394175,ClinVar:RCV000568895 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507366 13q13.1 13 32340624 A G H R 2090 2090 missense 0.076 benign 0.34 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562031 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1405631299 13q13.1 13 32340623 C T H Y 2090 2090 missense 0.001 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773071 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122550 13q13.1 13 32340626 A G S G 2091 2091 missense 0.068 benign 0.41 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000465291 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs966360777 13q13.1 13 32340628 T A S R 2091 2091 missense 0.179 benign 0.3 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122550 13q13.1 13 32340626 A C S R 2091 2091 missense 0.179 benign 0.3 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076958,pubmed:25394175,ClinVar:RCV000129368 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502389 13q13.1 13 32340627 G C S T 2091 2091 missense 0.0 benign 0.87 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467843 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587779365 13q13.1 13 32340629 C T L F 2092 2092 missense 0.831 possibly damaging 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561948 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1218113889 13q13.1 13 32340633 A T H L 2093 2093 missense 0.029 benign 0.05 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637524 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234239 13q13.1 13 32340634 C A H Q 2093 2093 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696755 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234249 13q13.1 13 32340637 T A Y * 2094 2094 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695620 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs397507838 13q13.1 13 32340636 A G Y C 2094 2094 missense 0.003 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:114480,MIM:612555,MIM:604370 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083125,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709324,pubmed:25394175,ClinVar:RCV000580567 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs397507838 13q13.1 13 32340636 A C Y S 2094 2094 missense 0.075 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000546817,pubmed:25394175,ClinVar:RCV000574242 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587781396 13q13.1 13 32340642 C G P R 2096 2096 missense 0.979 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472335,pubmed:25394175,ClinVar:RCV000129240 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1309257585 13q13.1 13 32340641 C T P S 2096 2096 missense 0.876 possibly damaging 0.23 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700111 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587781965 13q13.1 13 32340644 A G T A 2097 2097 missense 0.108 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130344 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358866 COSM416390 13q13.1 13 32340645 C T T M 2097 2097 missense 0.6535 benign, possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131379 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358867 13q13.1 13 32340648 C G S C 2098 2098 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773001 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358867 13q13.1 13 32340648 C T S F 2098 2098 missense 0.999 probably damaging 0.3 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222689 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122551 13q13.1 13 32340650 A G R G 2099 2099 missense 0.006 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076959,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695728,pubmed:25394175,ClinVar:RCV000222158 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358868 13q13.1 13 32340651 G A R K 2099 2099 missense 0.023 benign 0.37 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358868 13q13.1 13 32340651 G C R T 2099 2099 missense 0.311 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113561,pubmed:25394175,ClinVar:RCV000708683 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs746661607 13q13.1 13 32340653 C T Q * 2100 2100 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs746661607 13q13.1 13 32340653 C A Q K 2100 2100 missense 0.571 possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637615,pubmed:25394175,ClinVar:RCV000566896 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs770539957 13q13.1 13 32340654 A G Q R 2100 2100 missense 0.72 possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1430866716 13q13.1 13 32340656 A C N H 2101 2101 missense 0.532 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565803 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234294 13q13.1 13 32340657 A G N S 2101 2101 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688725 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358869 13q13.1 13 32340659 G A V I 2102 2102 missense 0.013 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564936 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358869 13q13.1 13 32340659 G T V L 2102 2102 missense 0.149 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113563,pubmed:25394175,ClinVar:RCV000771297 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358870 13q13.1 13 32340663 C G S * 2103 2103 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241268,pubmed:25394175,ClinVar:RCV000129618 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358870 13q13.1 13 32340663 C A S * 2103 2103 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113564,pubmed:25394175,ClinVar:RCV000580026 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284629 13q13.1 13 32340665 A C K Q 2104 2104 missense 0.804 possibly damaging 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000528876 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1394782776 13q13.1 13 32340666 A G K R 2104 2104 missense 0.081 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507368 13q13.1 13 32340668 A C I L 2105 2105 missense 0.067 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000705138,pubmed:25394175,ClinVar:RCV000574796 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122552 13q13.1 13 32340670 A G I M 2105 2105 missense 0.041 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637801,pubmed:25394175,ClinVar:RCV000771444 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,dbSNP,gnomAD rs397507368 13q13.1 13 32340668 A G I V 2105 2105 missense 0.023 benign 0.38 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031616,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637370 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660892 13q13.1 13 32340671 C T L F 2106 2106 missense 0.904 possibly damaging 0.32 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215218 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56172926 13q13.1 13 32340672 T C L P 2106 2106 missense 0.009 benign 0.17 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55794205 13q13.1 13 32340677 C T R C 2108 2108 missense 0.0 benign 0.18 tolerated 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:227650 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000384925 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35029074 13q13.1 13 32340678 G A R H 2108 2108 missense 0.398 benign 0.54 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs35029074 13q13.1 13 32340678 G T R L 2108 2108 missense 0.022 benign 0.66 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213911 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs79456940 13q13.1 13 32340680 G A V I 2109 2109 missense 0.001 benign 0.73 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195307 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358873 13q13.1 13 32340684 A C D A 2110 2110 missense 0.423 benign 0.12 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113575 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358873 13q13.1 13 32340684 A G D G 2110 2110 missense 0.665 possibly damaging 0.31 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs773211804 13q13.1 13 32340686 A G K E 2111 2111 missense 0.303 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663128,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466720,pubmed:25394175,ClinVar:RCV000221895 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284644 13q13.1 13 32340692 A G N D 2113 2113 missense 0.04 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580870 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358874 13q13.1 13 32340693 A G N S 2113 2113 missense 0.012 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1432047332 13q13.1 13 32340700 G T E D 2115 2115 missense 0.364 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55953736 13q13.1 13 32340702 A T H L 2116 2116 missense 0.474 possibly damaging 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219720 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1215865818 13q13.1 13 32340703 C G H Q 2116 2116 missense 0.799 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55953736 13q13.1 13 32340702 A G H R 2116 2116 missense 0.799 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131142 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659368 13q13.1 13 32340706 T A C * 2117 2117 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661437,pubmed:25394175,ClinVar:RCV000221121 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659368 13q13.1 13 32340706 T G C W 2117 2117 missense 0.835 possibly damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000538226 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284650 13q13.1 13 32340711 A T N I 2119 2119 missense 0.864 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1064794110 13q13.1 13 32340712 C G N K 2119 2119 missense 0.493 possibly damaging 0.08 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697738 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507845 13q13.1 13 32340714 C G S * 2120 2120 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257199,pubmed:25394175,ClinVar:RCV000509973 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs397507845 13q13.1 13 32340714 C T S L 2120 2120 missense 0.544 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284653 13q13.1 13 32340718 A T E D 2121 2121 missense 0.302 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565065 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507846 13q13.1 13 32340717 A G E G 2121 2121 missense 0.397 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587782183 13q13.1 13 32340716 G A E K 2121 2121 missense 0.006 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130806 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1163477792 13q13.1 13 32340721 G A M I 2122 2122 missense 0.067 benign 0.32 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234419 13q13.1 13 32340720 T A M K 2122 2122 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773462 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793571 13q13.1 13 32340724 A C E D 2123 2123 missense 0.466 possibly damaging 0.09 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000624984 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs776937022 13q13.1 13 32340729 C T T I 2125 2125 missense 0.028 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167283 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs776937022 13q13.1 13 32340729 C A T N 2125 2125 missense 0.001 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234451 13q13.1 13 32340731 T A C S 2126 2126 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773831 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660938 13q13.1 13 32340734 A C S R 2127 2127 missense 0.474 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213262 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358875 13q13.1 13 32340737 A T K * 2128 2128 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113580 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358875 13q13.1 13 32340737 A G K E 2128 2128 missense 0.164 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772759 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507847 13q13.1 13 32340739 A C K N 2128 2128 missense 0.003 benign 0.4 tolerated 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577318 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122554 13q13.1 13 32340738 A C K T 2128 2128 missense 0.015 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076963,pubmed:25394175,ClinVar:RCV000772760 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040653 13q13.1 13 32340740 G T E * 2129 2129 stop gained -1.0 unknown -1.0 unknown 1 Ovarian Neoplasms MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256697,ClinVar:RCV000785568 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234469 13q13.1 13 32340741 A G E G 2129 2129 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709326 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs929941099 13q13.1 13 32340743 T C F L 2130 2130 missense 0.007 benign 0.37 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459896 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs765669556 13q13.1 13 32340748 A T K N 2131 2131 missense 0.014 benign 0.37 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284658 13q13.1 13 32340750 T G L * 2132 2132 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661576,pubmed:25394175,ClinVar:RCV000563198 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234482 13q13.1 13 32340752 T C S P 2133 2133 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000793662,pubmed:25394175,ClinVar:RCV000771488 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1434431480 13q13.1 13 32340755 A G N D 2134 2134 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776831 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1434431480 13q13.1 13 32340755 A C N H 2134 2134 missense 0.648 possibly damaging 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358876 13q13.1 13 32340758 A C N H 2135 2135 missense 0.971 probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:114480,MIM:612555,MIM:604370 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083127,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044933,pubmed:25394175,ClinVar:RCV000165986 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs80358876 13q13.1 13 32340758 A T N Y 2135 2135 missense 0.971 probably damaging 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1231977477 13q13.1 13 32340761 T A L I 2136 2136 missense 0.029 benign 0.38 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579798 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284672 13q13.1 13 32340764 A G N D 2137 2137 missense 0.628 possibly damaging 0.13 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637665 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853597 13q13.1 13 32340766 T A N K 2137 2137 missense 0.093 benign 0.29 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233748 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234528 13q13.1 13 32340765 A G N S 2137 2137 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358877 13q13.1 13 32340768 T A V D 2138 2138 missense 0.334 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113585,pubmed:25394175,ClinVar:RCV000223184 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11571659 13q13.1 13 32340767 G T V F 2138 2138 missense 0.299 benign 0.01 deleterious 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:227650 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000311226 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs763639231 13q13.1 13 32340770 G T E * 2139 2139 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637421 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs763639231 13q13.1 13 32340770 G A E K 2139 2139 missense 0.997 probably damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs751071709 13q13.1 13 32340771 A T E V 2139 2139 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs879254137 13q13.1 13 32340773 G A G S 2140 2140 missense 0.007 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531040 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659898 13q13.1 13 32340774 G T G V 2140 2140 missense 0.106 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214465 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs907252547 13q13.1 13 32340776 G T G C 2141 2141 missense 0.896 possibly damaging 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs756885337 13q13.1 13 32340777 G T G V 2141 2141 missense 0.517 possibly damaging 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782624 13q13.1 13 32340779 T C S P 2142 2142 missense 0.898 possibly damaging 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637648,pubmed:25394175,ClinVar:RCV000132008 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs149330893 13q13.1 13 32340783 C A S * 2143 2143 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241501,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000230879,pubmed:25394175,ClinVar:RCV000573709 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs149330893 13q13.1 13 32340783 C G S * 2143 2143 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257829 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs149330893 13q13.1 13 32340783 C T S L 2143 2143 missense 0.014 benign 0.39 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130744 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs780049848 13q13.1 13 32340786 A G E G 2144 2144 missense 0.034 benign 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs755967190 13q13.1 13 32340785 G A E K 2144 2144 missense 0.093 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284690 13q13.1 13 32340788 A C N H 2145 2145 missense 0.009 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358878 13q13.1 13 32340789 A G N S 2145 2145 missense 0.009 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077374,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044945,pubmed:25394175,ClinVar:RCV000165446 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234599 13q13.1 13 32340791 A C N H 2146 2146 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773033 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284698 13q13.1 13 32340793 T G N K 2146 2146 missense 0.713 possibly damaging 0.23 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579964 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768512381 13q13.1 13 32340792 A G N S 2146 2146 missense 0.133 benign 0.86 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772761 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358879 13q13.1 13 32340796 C G H Q 2147 2147 missense 0.014 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031627,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044948 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781476 13q13.1 13 32340794 C T H Y 2147 2147 missense 0.514 possibly damaging 0.37 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545796,pubmed:25394175,ClinVar:RCV000129424 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1314863621 13q13.1 13 32340797 T G S A 2148 2148 missense 0.003 benign 0.59 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358880 13q13.1 13 32340798 C T S F 2148 2148 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358880 13q13.1 13 32340798 C A S Y 2148 2148 missense 0.413 benign 0.99 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130268 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786202013 13q13.1 13 32340800 A C I L 2149 2149 missense 0.108 benign 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP rs786202013 COSM6138776 13q13.1 13 32340800 A G I V 2149 2149 missense 0.01 benign 0.4 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164603 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1403648108 13q13.1 13 32340803 A G K E 2150 2150 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658814 13q13.1 13 32340805 A C K N 2150 2150 missense 0.933 probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000555951,pubmed:25394175,ClinVar:RCV000215239 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1403648108 13q13.1 13 32340803 A C K Q 2150 2150 missense 0.951 probably damaging 0.25 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662567,pubmed:25394175,ClinVar:RCV000565008 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793743 13q13.1 13 32340807 T G V G 2151 2151 missense 0.027 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775947 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1164384033 13q13.1 13 32340806 G A V I 2151 2151 missense 0.384 benign 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358881 13q13.1 13 32340810 C T S F 2152 2152 missense 0.937 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510135 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284705 13q13.1 13 32340809 T A S T 2152 2152 missense 0.61 possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358881 13q13.1 13 32340810 C A S Y 2152 2152 missense 0.937 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs276174873 13q13.1 13 32340813 C T P L 2153 2153 missense 0.999 probably damaging 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358883 13q13.1 13 32340817 T G Y * 2154 2154 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113596 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358882 13q13.1 13 32340816 A C Y S 2154 2154 missense 0.003 benign 0.4 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213967 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs775035051 13q13.1 13 32340818 C T L F 2155 2155 missense 0.595 possibly damaging 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222965 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs775035051 13q13.1 13 32340818 C A L I 2155 2155 missense 0.149 benign 0.44 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs775035051 13q13.1 13 32340818 C G L V 2155 2155 missense 0.023 benign 0.83 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701295,pubmed:25394175,ClinVar:RCV000510026 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs765575482 13q13.1 13 32340822 C T S F 2156 2156 missense 0.999 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663149,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000227586,pubmed:25394175,ClinVar:RCV000165921 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs397507859 COSM416388 13q13.1 13 32340824 C T Q * 2157 2157 stop gained -1.0 unknown -1.0 unknown 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241247,pubmed:25394175,ClinVar:RCV000772762 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507859 13q13.1 13 32340824 C G Q E 2157 2157 missense 0.019 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462334,pubmed:25394175,ClinVar:RCV000214385 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1456778960 13q13.1 13 32340825 A G Q R 2157 2157 missense 0.019 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234702 13q13.1 13 32340827 T C F L 2158 2158 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773436 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP,gnomAD rs398122558 COSM234209 13q13.1 13 32340830 C T Q * 2159 2159 stop gained -1.0 unknown -1.0 unknown 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000225554,pubmed:25394175,ClinVar:RCV000166433 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs398122558 13q13.1 13 32340830 C G Q E 2159 2159 missense 0.0 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166819 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs763486267 13q13.1 13 32340831 A C Q P 2159 2159 missense 0.001 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510013 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs763486267 13q13.1 13 32340831 A G Q R 2159 2159 missense 0.0 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462034,pubmed:25394175,ClinVar:RCV000573880 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040658 13q13.1 13 32340833 C T Q * 2160 2160 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257379,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637510,pubmed:25394175,ClinVar:RCV000568004 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587781610 13q13.1 13 32340834 A G Q R 2160 2160 missense 0.487 possibly damaging 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129697 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786201744 13q13.1 13 32340837 A G D G 2161 2161 missense 0.078 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164193 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284714 13q13.1 13 32340836 G C D H 2161 2161 missense 0.982 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580646 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284717 13q13.1 13 32340839 A T K * 2162 2162 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570000 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs751023453 13q13.1 13 32340841 A C K N 2162 2162 missense 0.397 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510071 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs11571660 13q13.1 13 32340840 A G K R 2162 2162 missense 0.014 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772763 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122559 13q13.1 13 32340842 C T Q * 2163 2163 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076968,pubmed:25394175,ClinVar:RCV000579895 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284720 13q13.1 13 32340843 A G Q R 2163 2163 missense 0.027 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584465 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507860 13q13.1 13 32340845 C T Q * 2164 2164 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241068,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000044968,pubmed:25394175,ClinVar:RCV000509627 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202572 13q13.1 13 32340852 T C V A 2166 2166 missense 0.014 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165437 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs750084851 13q13.1 13 32340851 G A V I 2166 2166 missense 0.023 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs750084851 13q13.1 13 32340851 G C V L 2166 2166 missense 0.099 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000687551,pubmed:25394175,ClinVar:RCV000776708 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs750084851 13q13.1 13 32340851 G T V L 2166 2166 missense 0.099 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000686167,pubmed:25394175,ClinVar:RCV000566050 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs730881543 13q13.1 13 32340855 T G L * 2167 2167 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs730881543 13q13.1 13 32340855 T A L * 2167 2167 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256721 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs730881543 13q13.1 13 32340855 T C L S 2167 2167 missense 0.58 possibly damaging 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs886040660 13q13.1 13 32340857 G T G * 2168 2168 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507372 13q13.1 13 32340858 G C G A 2168 2168 missense 0.742 possibly damaging 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs886040660 13q13.1 13 32340857 G A G R 2168 2168 missense 0.934 probably damaging 0.55 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284726 13q13.1 13 32340861 C T T I 2169 2169 missense 0.809 possibly damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000807789,pubmed:25394175,ClinVar:RCV000570270 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284726 13q13.1 13 32340861 C A T N 2169 2169 missense 0.045 benign 0.26 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000559713 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1471965041 13q13.1 13 32340860 A T T S 2169 2169 missense 0.046 benign 0.24 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700191 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1252272917 13q13.1 13 32340864 A G K R 2170 2170 missense 0.019 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773364 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234797 13q13.1 13 32340866 G A V M 2171 2171 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690783 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs886040663 13q13.1 13 32340870 C A S * 2172 2172 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257289 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1222261194 13q13.1 13 32340869 T G S A 2172 2172 missense 0.694 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509811 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs886040663 13q13.1 13 32340870 C T S L 2172 2172 missense 0.05 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566234827 13q13.1 13 32340872 C T L F 2173 2173 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773928 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659448 13q13.1 13 32340876 T C V A 2174 2174 missense 0.041 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558925,pubmed:25394175,ClinVar:RCV000214298 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660314 13q13.1 13 32340879 A G E G 2175 2175 missense 0.999 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215008 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658412 COSM3813725 13q13.1 13 32340878 G C E Q 2175 2175 missense 0.999 probably damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000684915,pubmed:25394175,ClinVar:RCV000214552 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502462 13q13.1 13 32340885 T C I T 2177 2177 missense 0.01 benign 0.88 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000458606,pubmed:25394175,ClinVar:RCV000776542 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358885 13q13.1 13 32340887 C G H D 2178 2178 missense 0.014 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219518 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358885 13q13.1 13 32340887 C A H N 2178 2178 missense 0.329 benign 0.2 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113604,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709327 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358885 13q13.1 13 32340887 C T H Y 2178 2178 missense 0.817 possibly damaging 0.43 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113605 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658443 13q13.1 13 32340890 G C V L 2179 2179 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218799 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122560 13q13.1 13 32340895 G C L F 2180 2180 missense 0.999 probably damaging 0.17 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076969 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881544 13q13.1 13 32340893 T G L V 2180 2180 missense 0.998 probably damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs371067421 13q13.1 13 32340896 G T G * 2181 2181 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257017 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs371067421 13q13.1 13 32340896 G A G R 2181 2181 missense 0.258 benign 0.28 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs371067421 13q13.1 13 32340896 G C G R 2181 2181 missense 0.258 benign 0.28 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205463 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507866 13q13.1 13 32340902 G T E * 2183 2183 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241124,pubmed:25394175,ClinVar:RCV000132475 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793068 13q13.1 13 32340903 A T E V 2183 2183 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358887 13q13.1 13 32340905 C T Q * 2184 2184 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000413131 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358887 13q13.1 13 32340905 C G Q E 2184 2184 missense 0.99 probably damaging 0.03 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113608 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1216313735 13q13.1 13 32340906 A G Q R 2184 2184 missense 0.993 probably damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs746070652 13q13.1 13 32340908 G C A P 2185 2185 missense 0.943 probably damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000576075 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs746070652 13q13.1 13 32340908 G A A T 2185 2185 missense 0.133 benign 0.67 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637749,pubmed:25394175,ClinVar:RCV000165385 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs980859921 13q13.1 13 32340909 C T A V 2185 2185 missense 0.713 possibly damaging 0.27 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709328,pubmed:25394175,ClinVar:RCV000574498 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507867 13q13.1 13 32340912 C A S * 2186 2186 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241520 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507867 13q13.1 13 32340912 C G S * 2186 2186 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257527 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507867 13q13.1 13 32340912 C T S L 2186 2186 missense 0.003 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000475735 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs56019712 13q13.1 13 32340915 C T P L 2187 2187 missense 0.4755 benign, probably damaging 0.23 tolerated 0 Acute myeloid leukemia (AML) CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000761099 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs868216475 13q13.1 13 32340914 C T P S 2187 2187 missense 0.02 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000822558,pubmed:25394175,ClinVar:RCV000773213 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs868216475 13q13.1 13 32340914 C A P T 2187 2187 missense 0.591 benign, possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401833 13q13.1 13 32340917 A G K E 2188 2188 missense 0.007 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496859 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507374 13q13.1 13 32340922 C G N K 2189 2189 missense 0.822 possibly damaging 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031636,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695101 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507374 13q13.1 13 32340922 C A N K 2189 2189 missense 0.822 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239150,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000458192,pubmed:25394175,ClinVar:RCV000167273 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881545 13q13.1 13 32340924 T C V A 2190 2190 missense 0.047 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358888 13q13.1 13 32340923 G A V I 2190 2190 missense 0.001 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132273 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358888 13q13.1 13 32340923 G T V L 2190 2190 missense 0.007 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000794072,pubmed:25394175,ClinVar:RCV000222390 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876660049 13q13.1 13 32340936 T C I T 2194 2194 missense 0.628 possibly damaging 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215118 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs985208973 13q13.1 13 32340939 G A G D 2195 2195 missense 0.988 probably damaging 0.34 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs398122561 13q13.1 13 32340941 A T K * 2196 2196 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076970 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs398122561 13q13.1 13 32340941 A G K E 2196 2196 missense 0.027 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509744 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284764 13q13.1 13 32340942 A G K R 2196 2196 missense 0.487 possibly damaging 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000796475,pubmed:25394175,ClinVar:RCV000580056 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284766 13q13.1 13 32340947 G T E * 2198 2198 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs769139609 13q13.1 13 32340948 A G E G 2198 2198 missense 0.983 probably damaging 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037809 13q13.1 13 32340953 T C F L 2200 2200 missense 0.994 probably damaging 0.18 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240739 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781466 13q13.1 13 32340955 T G F L 2200 2200 missense 0.994 probably damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129406 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1372423132 13q13.1 13 32340954 T C F S 2200 2200 missense 0.999 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000557523,pubmed:25394175,ClinVar:RCV000563833 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs869320796 13q13.1 13 32340956 T C S P 2201 2201 missense 0.013 benign 0.35 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000210992 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782136 13q13.1 13 32340962 G T V F 2203 2203 missense 0.904 possibly damaging 0.38 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130684 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284771 13q13.1 13 32340966 C T P L 2204 2204 missense 0.06 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570001 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284771 13q13.1 13 32340966 C G P R 2204 2204 missense 0.48 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570763 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881546 13q13.1 13 32340969 T G V G 2205 2205 missense 0.283 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637443,pubmed:25394175,ClinVar:RCV000509910 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358889 13q13.1 13 32340968 G A V M 2205 2205 missense 0.099 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166043 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284772 13q13.1 13 32340974 A G T A 2207 2207 missense 0.539 possibly damaging 0.17 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574573 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs767110818 13q13.1 13 32340978 A G N S 2208 2208 missense 0.015 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563501 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825344 13q13.1 13 32340981 T C I T 2209 2209 missense 0.003 benign 0.82 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082961,ClinVar:RCV000763894,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763894,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763894,ClinVar:RCV000763894,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000119208,pubmed:25394175,ClinVar:RCV000217422,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763894,ClinVar:RCV000763894,ClinVar:RCV000763894,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763894 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284774 13q13.1 13 32340983 G C E Q 2210 2210 missense 0.962 probably damaging 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509831 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502445 13q13.1 13 32340986 G T V F 2211 2211 missense 0.109 benign 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466730 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566235052 13q13.1 13 32340990 G T C F 2212 2212 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774972 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs75925841 13q13.1 13 32340993 C T S F 2213 2213 missense 0.999 probably damaging 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203740,pubmed:25394175,ClinVar:RCV000216639 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358890 13q13.1 13 32340992 T C S P 2213 2213 missense 0.999 probably damaging 0.12 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113617 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs377200598 13q13.1 13 32340995 A G T A 2214 2214 missense 0.061 benign 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566235063 13q13.1 13 32340996 C T T I 2214 2214 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000795801 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358892 13q13.1 13 32341000 C G Y * 2215 2215 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:114480,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113621,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000490731,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690837 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs753615126 13q13.1 13 32340999 A G Y C 2215 2215 missense 0.048 benign 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs918816907 13q13.1 13 32341001 T G S A 2216 2216 missense 0.167 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000699985,pubmed:25394175,ClinVar:RCV000568247 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284777 13q13.1 13 32341002 C G S C 2216 2216 missense 0.849 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570200 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555284777 COSM946838 13q13.1 13 32341002 C T S F 2216 2216 missense 0.785 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000699491,pubmed:25394175,ClinVar:RCV000773526 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284779 13q13.1 13 32341004 A G K E 2217 2217 missense 0.212 benign 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637437 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284781 13q13.1 13 32341005 A G K R 2217 2217 missense 0.212 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575587 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881547 13q13.1 13 32341007 G C D H 2218 2218 missense 0.957 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509725 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs730881547 13q13.1 13 32341007 G T D Y 2218 2218 missense 0.916 possibly damaging, probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358893 13q13.1 13 32341011 C G S * 2219 2219 stop gained 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113622,ClinVar:RCV000763324,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763324,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763324,ClinVar:RCV000763324,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000502225,pubmed:25394175,ClinVar:RCV000447889,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763324,ClinVar:RCV000763324,ClinVar:RCV000763324,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763324 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566235100 13q13.1 13 32341010 T G S A 2219 2219 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000687456 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284784 13q13.1 13 32341014 A G E G 2220 2220 missense 0.928 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580214 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284785 13q13.1 13 32341016 A T N Y 2221 2221 missense 0.971 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000625271 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507875 13q13.1 13 32341020 A G Y C 2222 2222 missense 0.007 benign 0.25 tolerated 0 Hereditary cancer-predisposing syndrome MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:25394175,ClinVar:RCV000221087 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203437 13q13.1 13 32341029 C A T K 2225 2225 missense 0.999 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166740 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs775859905 13q13.1 13 32341031 G T E * 2226 2226 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257146 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1281267586 13q13.1 13 32341032 A G E G 2226 2226 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000528701,pubmed:25394175,ClinVar:RCV000569289 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825345 13q13.1 13 32341034 G A A T 2227 2227 missense 0.999 probably damaging 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082962,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000538858 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358894 13q13.1 13 32341038 T C V A 2228 2228 missense 0.325 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113629,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045017,pubmed:25394175,ClinVar:RCV000166253 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881548 13q13.1 13 32341040 G T E * 2229 2229 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241410,pubmed:25394175,ClinVar:RCV000216038 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853598 13q13.1 13 32341044 T C I T 2230 2230 missense 0.998 probably damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000232224 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587779366 13q13.1 13 32341043 A G I V 2230 2230 missense 0.99 probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474506,pubmed:25394175,ClinVar:RCV000130830 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs758379999 13q13.1 13 32341046 G C A P 2231 2231 missense 0.964 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772766 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs758379999 13q13.1 13 32341046 G T A S 2231 2231 missense 0.742 possibly damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457998 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs758379999 13q13.1 13 32341046 G A A T 2231 2231 missense 0.199 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166928 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs781219481 13q13.1 13 32341049 A G K E 2232 2232 missense 0.997 probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164702 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786203098 13q13.1 13 32341050 A T K I 2232 2232 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000818545,pubmed:25394175,ClinVar:RCV000166254 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs41293501 13q13.1 13 32341053 C A A D 2233 2233 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113630,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045020,pubmed:25394175,ClinVar:RCV000165875 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs41293501 13q13.1 13 32341053 C G A G 2233 2233 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502396 13q13.1 13 32341052 G C A P 2233 2233 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000473859 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502396 13q13.1 13 32341052 G A A T 2233 2233 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471117 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs41293501 13q13.1 13 32341053 C T A V 2233 2233 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474777 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs769956199 13q13.1 13 32341055 T C F L 2234 2234 missense 0.994 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772767 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284803 13q13.1 13 32341062 A G E G 2236 2236 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580327 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs41293503 13q13.1 13 32341061 G A E K 2236 2236 missense 0.997 probably damaging 0.0 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083129,ClinVar:RCV000763895,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763895,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763895,ClinVar:RCV000763895,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045026,pubmed:25394175,ClinVar:RCV000165940,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763895,ClinVar:RCV000763895,ClinVar:RCV000763895,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763895 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1174104045 13q13.1 13 32341064 G C D H 2237 2237 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581060 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs28897742 13q13.1 13 32341069 T G D E 2238 2238 missense 0.176 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218646 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358895 13q13.1 13 32341068 A G D G 2238 2238 missense 0.0 benign 0.96 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130198 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs749590229 13q13.1 13 32341067 G A D N 2238 2238 missense 0.193 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700666,pubmed:25394175,ClinVar:RCV000564862 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174876 13q13.1 13 32341070 G T E * 2239 2239 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113633 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs774825915 13q13.1 13 32341071 A G E G 2239 2239 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174876 13q13.1 13 32341070 G A E K 2239 2239 missense 0.997 probably damaging 0.08 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:25394175,ClinVar:RCV000221713,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000677826 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174876 13q13.1 13 32341070 G C E Q 2239 2239 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573449 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs369452046 13q13.1 13 32341074 T A L Q 2240 2240 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706880,pubmed:25394175,ClinVar:RCV000570938 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174877 13q13.1 13 32341077 C T T I 2241 2241 missense 0.024 benign 0.02 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113634 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202002 13q13.1 13 32341079 G A D N 2242 2242 missense 0.999 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000542638,pubmed:25394175,ClinVar:RCV000164581 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659031 COSM93983 13q13.1 13 32341083 C G S C 2243 2243 missense 0.022 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221235 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284829 13q13.1 13 32341082 T C S P 2243 2243 missense 0.804 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564907 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040675 13q13.1 13 32341085 A T K * 2244 2244 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256833,pubmed:25394175,ClinVar:RCV000776329 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284837 13q13.1 13 32341086 A G K R 2244 2244 missense 0.0 benign 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637804 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658421 13q13.1 13 32341088 C A L M 2245 2245 missense 0.807 possibly damaging 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219349 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs772795886 13q13.1 13 32341089 T A L Q 2245 2245 missense 0.653 possibly damaging 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000798113,pubmed:25394175,ClinVar:RCV000509998 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782038 13q13.1 13 32341092 C G P R 2246 2246 missense 0.923 probably damaging 0.45 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531111,pubmed:25394175,ClinVar:RCV000130498 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284840 13q13.1 13 32341091 C T P S 2246 2246 missense 0.713 possibly damaging 0.83 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000552843 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358896 13q13.1 13 32341094 A G S G 2247 2247 missense 0.003 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000163090 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358898 13q13.1 13 32341096 T A S R 2247 2247 missense 0.376 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113635,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045037,pubmed:25394175,ClinVar:RCV000773268 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1350512388 13q13.1 13 32341097 C G H D 2248 2248 missense 0.953 probably damaging 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284842 13q13.1 13 32341099 T A H Q 2248 2248 missense 0.953 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793995 13q13.1 13 32341098 A G H R 2248 2248 missense 0.953 probably damaging 0.13 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637686 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781435 13q13.1 13 32341100 G A A T 2249 2249 missense 0.571 possibly damaging 0.38 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637376,pubmed:25394175,ClinVar:RCV000129329 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358899 13q13.1 13 32341103 A G T A 2250 2250 missense 0.019 benign 0.06 tolerated 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000768603 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284844 13q13.1 13 32341107 A G H R 2251 2251 missense 0.02 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510065 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1260385979 13q13.1 13 32341106 C T H Y 2251 2251 missense 0.862 possibly damaging 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658504 13q13.1 13 32341110 C G S C 2252 2252 missense 0.902 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000687819,pubmed:25394175,ClinVar:RCV000217607 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284846 13q13.1 13 32341112 C G L V 2253 2253 missense 0.009 benign 0.18 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000624985 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284847 13q13.1 13 32341115 T C F L 2254 2254 missense 0.005 benign 0.36 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701143 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202915 13q13.1 13 32341116 T A F Y 2254 2254 missense 0.409 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358901 13q13.1 13 32341123 T A C * 2256 2256 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 ClinVar:RCV000735590,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113641 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs559106452 13q13.1 13 32341121 T C C R 2256 2256 2.0E-4 missense 0.864 possibly damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs559106452 13q13.1 13 32341121 T A C S 2256 2256 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776904 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358900 13q13.1 13 32341122 G A C Y 2256 2256 missense 0.033 benign 0.26 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113640 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358903 13q13.1 13 32341125 C G P R 2257 2257 missense 0.234 benign 0.85 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113642,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000852300,pubmed:25394175,ClinVar:RCV000574794 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566235374 13q13.1 13 32341124 C T P S 2257 2257 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000703424 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,dbSNP,gnomAD rs730881549 COSM2071476 13q13.1 13 32341127 G A E K 2258 2258 missense 0.0 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000809521 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284853 13q13.1 13 32341133 G A E K 2260 2260 missense 0.025 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573696 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660812 13q13.1 13 32341136 G T E * 2261 2261 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661548,pubmed:25394175,ClinVar:RCV000216619 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284854 13q13.1 13 32341137 A G E G 2261 2261 missense 0.005 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637558 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs876660812 13q13.1 13 32341136 G A E K 2261 2261 missense 0.946 probably damaging 0.39 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773485 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358904 13q13.1 13 32341140 T G M R 2262 2262 missense 0.146 benign 0.7 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000162802 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1417110572 13q13.1 13 32341139 A G M V 2262 2262 missense 0.007 benign 0.69 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566235410 13q13.1 13 32341142 G A V I 2263 2263 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs756182263 13q13.1 13 32341147 G C L F 2264 2264 missense 0.736 possibly damaging 0.23 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239333 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1364062389 13q13.1 13 32341146 T G L W 2264 2264 missense 0.082 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358905 13q13.1 13 32341151 A C N H 2266 2266 missense 0.999 probably damaging 0.08 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113643,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045048 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs377698594 13q13.1 13 32341155 C A S * 2267 2267 stop gained 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577100 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs377698594 13q13.1 13 32341155 C G S * 2267 2267 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,gnomAD rs377698594 13q13.1 13 32341155 C T S L 2267 2267 missense 0.888 possibly damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358906 13q13.1 13 32341158 G A R K 2268 2268 missense 0.297 benign 0.05 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195333 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1461325049 13q13.1 13 32341159 A C R S 2268 2268 missense 0.392 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1300492434 13q13.1 13 32341160 A C I L 2269 2269 missense 0.107 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509801 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122564 13q13.1 13 32341161 T C I T 2269 2269 missense 0.007 benign 0.92 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076973,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000230132 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661276 13q13.1 13 32341166 A G K E 2271 2271 missense 0.997 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP rs577406621 13q13.1 13 32341167 A G K R 2271 2271 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469676 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs199522406 13q13.1 13 32341170 G A R K 2272 2272 missense 0.994 probably damaging 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689614 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566235443 13q13.1 13 32341172 A G R G 2273 2273 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000799494 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs587782174 13q13.1 13 32341173 G A R K 2273 2273 missense 0.6835 benign, probably damaging 0.07 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000765132,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765132,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765132,ClinVar:RCV000765132,pubmed:25394175,ClinVar:RCV000130779,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765132,ClinVar:RCV000765132,ClinVar:RCV000765132,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765132 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs55712212 13q13.1 13 32341176 G T G V 2274 2274 missense 0.804 possibly damaging 0.37 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:604370 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045064 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587782362 13q13.1 13 32341178 G A E K 2275 2275 missense 0.117 benign 0.46 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000812168,pubmed:25394175,ClinVar:RCV000131323 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs748541466 13q13.1 13 32341182 C A P H 2276 2276 missense 0.168 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566942 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs748541466 13q13.1 13 32341182 C T P L 2276 2276 missense 0.018 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358907 13q13.1 13 32341181 C T P S 2276 2276 missense 0.007 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113654,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045067,pubmed:25394175,ClinVar:RCV000213626 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358907 13q13.1 13 32341181 C A P T 2276 2276 missense 0.0 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113653,pubmed:25394175,ClinVar:RCV000569837 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202214 13q13.1 13 32341184 C T L F 2277 2277 missense 0.718 possibly damaging 0.45 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000702609,pubmed:25394175,ClinVar:RCV000164928 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1043681551 13q13.1 13 32341185 T G L R 2277 2277 missense 0.783 possibly damaging 0.24 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202214 13q13.1 13 32341184 C G L V 2277 2277 missense 0.134 benign 0.41 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575181 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555284865 13q13.1 13 32341188 T G I S 2278 2278 missense 0.158 benign 0.38 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000819360 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs772645059 13q13.1 13 32341187 A G I V 2278 2278 missense 0.003 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs431825346 13q13.1 13 32341192 A T L F 2279 2279 missense 0.001 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082963,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000694161,pubmed:25394175,ClinVar:RCV000132289 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566235479 13q13.1 13 32341194 T C V A 2280 2280 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772891 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80358908 13q13.1 13 32344558 G A G E 2281 2281 missense 0.895 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1390926046 13q13.1 13 32341196 G A G R 2281 2281 missense 0.995 probably damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000541536 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1390926046 13q13.1 13 32341196 G C G R 2281 2281 missense 0.995 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358908 13q13.1 13 32344558 G T G V 2281 2281 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113668,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045078,pubmed:25394175,ClinVar:RCV000220896 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566236858 13q13.1 13 32344562 A C E D 2282 2282 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000694466 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555285137 13q13.1 13 32344560 G A E K 2282 2282 missense 0.935 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510078 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502479 13q13.1 13 32344561 A T E V 2282 2282 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476601 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358909 13q13.1 13 32344563 C G P A 2283 2283 missense 0.453 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077388,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045079,pubmed:25394175,ClinVar:RCV000565946 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358910 13q13.1 13 32344564 C A P H 2283 2283 missense 0.959 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113669,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168592,pubmed:25394175,ClinVar:RCV000130966 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80358910 13q13.1 13 32344564 C T P L 2283 2283 missense 0.849 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358909 13q13.1 13 32344563 C T P S 2283 2283 missense 0.061 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358909 13q13.1 13 32344563 C A P T 2283 2283 missense 0.558 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000525458 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56272235 13q13.1 13 32344569 A G I V 2285 2285 missense 0.986 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs398122567 13q13.1 13 32344572 A C K Q 2286 2286 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076977,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474302 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661261 13q13.1 13 32344575 A G R G 2287 2287 missense 0.997 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1244797012 13q13.1 13 32344578 A C N H 2288 2288 missense 0.72 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575446 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122569 13q13.1 13 32344579 A T N I 2288 2288 missense 0.65 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076979,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000821916,pubmed:25394175,ClinVar:RCV000132443 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555285146 13q13.1 13 32344582 T G L * 2289 2289 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583617 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358911 13q13.1 13 32344587 A G N D 2291 2291 missense 0.917 probably damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113670,pubmed:25394175,ClinVar:RCV000566275 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507378 13q13.1 13 32344591 A C E A 2292 2292 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000802535,pubmed:25394175,ClinVar:RCV000561772 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507378 13q13.1 13 32344591 A G E G 2292 2292 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031653,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460823,pubmed:25394175,ClinVar:RCV000131009 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1381512588 13q13.1 13 32344595 T G F L 2293 2293 missense 0.991 probably damaging 0.0 deleterious 0 Breast cancer (BC) A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358912 13q13.1 13 32344593 T C F L 2293 2293 missense 0.991 probably damaging 0.0 deleterious 0 Breast cancer (BC) A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502417 13q13.1 13 32344598 C G D E 2294 2294 missense 0.58 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476031 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555285151 13q13.1 13 32344600 G C R T 2295 2295 missense 0.531 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000554176,pubmed:25394175,ClinVar:RCV000777234 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs576279166 13q13.1 13 32344602 A C I L 2296 2296 missense 0.986 probably damaging 0.08 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000410842 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255335 13q13.1 13 32344604 A G I M 2296 2296 missense 0.998 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000238789,pubmed:25394175,ClinVar:RCV000580573 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs576279166 13q13.1 13 32344602 A G I V 2296 2296 missense 0.986 probably damaging 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509864 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566236920 13q13.1 13 32344606 T C I T 2297 2297 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566236917 13q13.1 13 32344605 A G I V 2297 2297 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777329 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661199 13q13.1 13 32344610 A T E D 2298 2298 missense 0.994 probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000686463,pubmed:25394175,ClinVar:RCV000565312 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358914 13q13.1 13 32344608 G A E K 2298 2298 missense 0.996 probably damaging 0.11 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045085 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs761695956 13q13.1 13 32344611 A G N D 2299 2299 missense 0.942 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000792436,pubmed:25394175,ClinVar:RCV000575401 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358915 13q13.1 13 32344617 G T E * 2301 2301 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000258479 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358915 13q13.1 13 32344617 G A E K 2301 2301 missense 0.71 possibly damaging 0.2 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113671 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358915 13q13.1 13 32344617 G C E Q 2301 2301 missense 0.92 probably damaging 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229676 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1212600749 13q13.1 13 32344621 A T K I 2302 2302 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000533043,pubmed:25394175,ClinVar:RCV000582487 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1239798218 13q13.1 13 32344624 C T S F 2303 2303 missense 0.632 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502494 13q13.1 13 32344623 T C S P 2303 2303 missense 0.945 probably damaging 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662706,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466811 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782594 13q13.1 13 32344629 A G K E 2305 2305 missense 0.996 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131938 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555285156 13q13.1 13 32344631 G C K N 2305 2305 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774011 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658476 13q13.1 13 32344630 A G K R 2305 2305 missense 0.996 probably damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219231 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881550 13q13.1 13 32344632 G C A P 2306 2306 missense 0.0 benign 0.38 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000800022,pubmed:25394175,ClinVar:RCV000583812 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881550 13q13.1 13 32344632 G T A S 2306 2306 missense 0.098 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000543240,pubmed:25394175,ClinVar:RCV000165458 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881550 13q13.1 13 32344632 G A A T 2306 2306 missense 0.007 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198357,pubmed:25394175,ClinVar:RCV000566440 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122570 13q13.1 13 32344638 A G K E 2308 2308 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130466 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs186810431 13q13.1 13 32344639 A C K T 2308 2308 missense 0.998 probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567072 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,gnomAD rs371376730 13q13.1 13 32344642 G A S N 2309 2309 missense 0.279 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs276174886 13q13.1 13 32344645 C A T N 2310 2310 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113672,pubmed:25394175,ClinVar:RCV000563131 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881551 13q13.1 13 32344647 C A P T 2311 2311 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000557928,pubmed:25394175,ClinVar:RCV000564056 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358917 13q13.1 13 32344652 T A D E 2312 2312 missense 0.998 probably damaging 0.15 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113674 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80358916 13q13.1 13 32344651 A G D G 2312 2312 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358916 13q13.1 13 32344651 A T D V 2312 2312 missense 0.999 probably damaging 0.03 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113673 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1177474377 13q13.1 13 32346830 C A T K 2314 2314 missense 0.988 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690922 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358918 13q13.1 13 32346832 A C I L 2315 2315 missense 0.009 benign 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358918 13q13.1 13 32346832 A G I V 2315 2315 missense 0.015 benign 0.35 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113676 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs773194010 13q13.1 13 32346835 A G K E 2316 2316 missense 0.716 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1407242741 COSM696731 13q13.1 13 32346836 A G K R 2316 2316 missense 0.8605 possibly damaging, probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555285332 13q13.1 13 32346839 A G D G 2317 2317 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562911 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs80358920 13q13.1 13 32346841 C T R * 2318 2318 stop gained -1.0 unknown -1.0 unknown 1 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031658,ClinVar:RCV000763325,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763325,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763325,ClinVar:RCV000763325,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045095,pubmed:25394175,ClinVar:RCV000569398,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763325,ClinVar:RCV000763325,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240678,ClinVar:RCV000785228,ClinVar:RCV000763325,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763325 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358920 13q13.1 13 32346841 C G R G 2318 2318 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000461532,pubmed:25394175,ClinVar:RCV000573163 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358921 13q13.1 13 32346842 G A R Q 2318 2318 missense 0.998 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077390 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122573 13q13.1 13 32346846 A C R S 2319 2319 missense 0.574 possibly damaging 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076983,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229784,pubmed:25394175,ClinVar:RCV000773094 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358922 13q13.1 13 32346845 G C R T 2319 2319 missense 0.648 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113678,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045097,pubmed:25394175,ClinVar:RCV000132286 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358923 13q13.1 13 32346848 T A L * 2320 2320 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082965,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637789,pubmed:25394175,ClinVar:RCV000509686 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358923 13q13.1 13 32346848 T C L S 2320 2320 missense 0.021 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113679,pubmed:25394175,ClinVar:RCV000509856 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358924 13q13.1 13 32346855 G T M I 2322 2322 missense 0.108 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077391,pubmed:25394175,ClinVar:RCV000509983 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs184442109 13q13.1 13 32346854 T C M T 2322 2322 2.0E-4 missense 0.001 benign 0.62 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502483 13q13.1 13 32346853 A G M V 2322 2322 missense 0.069 benign 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462207 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122574 13q13.1 13 32346860 A C H P 2324 2324 missense 0.998 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122574 13q13.1 13 32346860 A G H R 2324 2324 missense 0.997 probably damaging 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076984,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000197341 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs764434091 13q13.1 13 32346859 C T H Y 2324 2324 missense 0.996 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs757647065 13q13.1 13 32346862 G C V L 2325 2325 missense 0.068 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000771432 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs750917769 13q13.1 13 32346869 T C L S 2327 2327 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038158 13q13.1 13 32346871 G T E * 2328 2328 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241433 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP rs201500887 13q13.1 13 32346872 A C E A 2328 2328 missense 0.742 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572431 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358925 13q13.1 13 32346875 C T P L 2329 2329 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358925 13q13.1 13 32346875 C G P R 2329 2329 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555285355 13q13.1 13 32346874 C A P T 2329 2329 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545673 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs990077470 13q13.1 13 32346879 T G I M 2330 2330 missense 0.812 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876661032 13q13.1 13 32346877 A G I V 2330 2330 missense 0.007 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000477387,pubmed:25394175,ClinVar:RCV000776229 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358926 13q13.1 13 32346880 A G T A 2331 2331 missense 0.728 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113682,pubmed:25394175,ClinVar:RCV000561119 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1474281591 13q13.1 13 32346883 T C C R 2332 2332 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202536 13q13.1 13 32346884 G A C Y 2332 2332 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701592,pubmed:25394175,ClinVar:RCV000165386 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781842 13q13.1 13 32346886 G A V I 2333 2333 missense 0.344 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130140 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs748816192 13q13.1 13 32346890 C T P L 2334 2334 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555285365 13q13.1 13 32346892 T G F V 2335 2335 missense 0.023 benign 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000549454 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP,gnomAD rs431825347 COSM432313 13q13.1 13 32346895 C T R C 2336 2336 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132214 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs431825347 13q13.1 13 32346895 C G R G 2336 2336 missense 0.0 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130142 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs28897743 13q13.1 13 32346896 G A R H 2336 2336 missense 0.319 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:114480,MIM:605724,MIM:605724,MIM:604370 pubmed:12065746,pubmed:14670928,pubmed:16825431,pubmed:21719596,pubmed:23108138 ClinVar:RCV000735595,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031659,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000475925,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000009923,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045112,pubmed:25394175,ClinVar:RCV000131031 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs28897743 13q13.1 13 32346896 G A R H 2336 2336 missense 0.319 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs28897743 13q13.1 13 32346896 G T R L 2336 2336 missense 0.023 benign 0.03 deleterious 1 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113685 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs28897743 13q13.1 13 32346896 G T R L 2336 2336 missense 0.023 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs28897743 13q13.1 13 32346896 G C R P 2336 2336 missense 0.191 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs28897743 13q13.1 13 32346896 G C R Q 2336 2336 missense 0.191 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:114480,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077394,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000475905,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045113,pubmed:25394175,ClinVar:RCV000214499 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825348 13q13.1 13 32354862 A G T A 2337 2337 missense 0.036 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082967,pubmed:25394175,ClinVar:RCV000164684 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358927 13q13.1 13 32354863 C T T I 2337 2337 missense 0.849 possibly damaging 0.04 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113691 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs45574331 13q13.1 13 32354870 G C K N 2339 2339 missense 0.014 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167851,pubmed:25394175,ClinVar:RCV000128918 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs41293505 13q13.1 13 32354874 C T R C 2341 2341 missense 0.003 benign 0.07 tolerated 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000735598 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs41293505 13q13.1 13 32354874 C G R G 2341 2341 missense 0.171 benign 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000470374 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786202839 13q13.1 13 32354875 G A R H 2341 2341 missense 0.003 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561472 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786202839 13q13.1 13 32354875 G T R L 2341 2341 missense 0.087 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000412027,pubmed:25394175,ClinVar:RCV000165860 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358928 13q13.1 13 32354877 C T Q * 2342 2342 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077396,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496229,pubmed:25394175,ClinVar:RCV000215667 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555285981 13q13.1 13 32354878 A C Q P 2342 2342 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777109 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555285981 13q13.1 13 32354878 A G Q R 2342 2342 missense 0.458 possibly damaging 0.18 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000542096 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555285983 13q13.1 13 32354880 G A E K 2343 2343 missense 0.014 benign 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637489 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1345302151 13q13.1 13 32354884 T A I K 2344 2344 missense 0.687 possibly damaging 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658231 13q13.1 13 32354883 A G I V 2344 2344 missense 0.213 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000461227,pubmed:25394175,ClinVar:RCV000218525 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs886040685 13q13.1 13 32354886 C T Q * 2345 2345 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256724,pubmed:25394175,ClinVar:RCV000566727 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs886040685 13q13.1 13 32354886 C G Q E 2345 2345 missense 0.986 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000805741,pubmed:25394175,ClinVar:RCV000579918 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661187 13q13.1 13 32354887 A G Q R 2345 2345 missense 0.991 probably damaging 0.29 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507381 13q13.1 13 32354890 A G N S 2346 2346 missense 0.01 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031662,pubmed:25394175,ClinVar:RCV000165509 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876660668 13q13.1 13 32354892 C G P A 2347 2347 missense 0.154 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000552298,pubmed:25394175,ClinVar:RCV000221584 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358929 13q13.1 13 32354893 C A P Q 2347 2347 missense 0.792 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113695,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045126,pubmed:25394175,ClinVar:RCV000167327 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs55742659 13q13.1 13 32354895 A C N H 2348 2348 missense 0.999 probably damaging 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637661,pubmed:25394175,ClinVar:RCV000509958 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs747817752 13q13.1 13 32354896 A G N S 2348 2348 missense 0.996 probably damaging 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555285984 13q13.1 13 32354898 T C F L 2349 2349 missense 0.437 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000818998,pubmed:25394175,ClinVar:RCV000776709 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781847 13q13.1 13 32354902 C T T I 2350 2350 missense 0.061 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130149 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358932 13q13.1 13 32354905 C G A G 2351 2351 missense 0.013 benign 0.0 deleterious 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:612555,MIM:227650 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031663,pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000343881 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358930 13q13.1 13 32354904 G C A P 2351 2351 missense 0.921 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113697,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195376,pubmed:25394175,ClinVar:RCV000132200 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358930 13q13.1 13 32354904 G T A S 2351 2351 missense 0.459 possibly damaging 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469511 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358930 COSM2071494 13q13.1 13 32354904 G A A T 2351 2351 missense 0.49 possibly damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130893 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80358932 13q13.1 13 32354905 C T A V 2351 2351 missense 0.023 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113698,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000793502,pubmed:25394175,ClinVar:RCV000165059 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs80358934 13q13.1 13 32354908 C T P L 2352 2352 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113699,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045131,pubmed:25394175,ClinVar:RCV000222667 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC rs776714935 13q13.1 13 32354907 C A P T 2352 2352 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358935 13q13.1 13 32354910 G C G R 2353 2353 missense 0.921 probably damaging 0.01 deleterious 0 Breast cancer (BC) A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 ClinVar:RCV000735599 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358936 13q13.1 13 32354913 C T Q * 2354 2354 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:114480,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113702,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000045134,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496490,pubmed:25394175,ClinVar:RCV000510038 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs200078639 13q13.1 13 32354916 G T E * 2355 2355 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241131,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000526031 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1000705954 13q13.1 13 32354918 A C E D 2355 2355 missense 0.288 benign 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs200078639 13q13.1 13 32354916 G A E K 2355 2355 2.0E-4 missense 0.015 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1398504932 13q13.1 13 32354921 T A F L 2356 2356 missense 0.007 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1398504932 13q13.1 13 32354921 T G F L 2356 2356 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777302 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs863224596 13q13.1 13 32354919 T G F V 2356 2356 missense 0.217 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000199233,pubmed:25394175,ClinVar:RCV000221818 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587781844 13q13.1 13 32354920 T A F Y 2356 2356 missense 0.509 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130144 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1316815571 13q13.1 13 32354922 C A L M 2357 2357 missense 0.999 probably damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1316815571 13q13.1 13 32354922 C G L V 2357 2357 missense 0.998 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580584 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825349 13q13.1 13 32354926 C G S C 2358 2358 missense 0.959 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082968,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000701650,pubmed:25394175,ClinVar:RCV000131322 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358937 13q13.1 13 32354925 T C S P 2358 2358 missense 0.036 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113703,pubmed:25394175,ClinVar:RCV000218675 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555285991 13q13.1 13 32354931 T C S P 2360 2360 missense 0.031 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome ClinVar:RCV000735600,pubmed:25394175,ClinVar:RCV000571201 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659579 13q13.1 13 32354935 A T H L 2361 2361 missense 0.541 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216260 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659579 13q13.1 13 32354935 A G H R 2361 2361 missense 0.839 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786203493 13q13.1 13 32354934 C T H Y 2361 2361 missense 0.024 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000804009,pubmed:25394175,ClinVar:RCV000166818 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358939 13q13.1 13 32354941 A G Y C 2363 2363 missense 0.015 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113706,pubmed:25394175,ClinVar:RCV000164874 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358940 13q13.1 13 32354943 G T E * 2364 2364 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257797 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358940 13q13.1 13 32354943 G A E K 2364 2364 missense 0.869 possibly damaging 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113707,pubmed:25394175,ClinVar:RCV000579842 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,dbSNP rs370708814 13q13.1 13 32354948 T A H Q 2365 2365 missense 0.598 possibly damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 ClinVar:RCV000768606,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000200353,pubmed:25394175,ClinVar:RCV000222104 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659943 13q13.1 13 32354946 C T H Y 2365 2365 missense 0.806 possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239231,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000686826,pubmed:25394175,ClinVar:RCV000218946 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358941 13q13.1 13 32354949 C G L V 2366 2366 missense 0.798 possibly damaging 0.5 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164923 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs754326949 13q13.1 13 32354953 C T T I 2367 2367 missense 0.818 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579528 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507382 13q13.1 13 32354955 T G L V 2368 2368 missense 0.517 possibly damaging 0.05 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031666 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358942 13q13.1 13 32354960 A C E D 2369 2369 missense 0.994 probably damaging 0.03 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113708 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286006 13q13.1 13 32354959 A G E G 2369 2369 missense 0.998 probably damaging 0.24 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000544540 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs374388885 13q13.1 13 32354964 T C S P 2371 2371 missense 0.998 probably damaging 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1453603435 13q13.1 13 32354965 C A S Y 2371 2371 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358943 13q13.1 13 32354968 C A S * 2372 2372 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661838,pubmed:25394175,ClinVar:RCV000509899 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358943 13q13.1 13 32354968 C G S * 2372 2372 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113711 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1199109224 13q13.1 13 32354967 T C S P 2372 2372 missense 0.998 probably damaging 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202624 13q13.1 13 32354972 C G S R 2373 2373 missense 0.684 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215752 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358944 13q13.1 13 32354971 G C S T 2373 2373 missense 0.024 benign 0.04 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113712 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1379054137 13q13.1 13 32354974 A G N S 2374 2374 missense 0.003 benign 0.53 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575236 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040687 13q13.1 13 32354977 T G L * 2375 2375 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257811 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs730881552 13q13.1 13 32354979 G C A P 2376 2376 missense 0.003 benign 0.39 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs730881552 13q13.1 13 32354979 G A A T 2376 2376 missense 0.124 benign 0.64 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174889 13q13.1 13 32354986 C G S * 2378 2378 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031667,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045148,pubmed:25394175,ClinVar:RCV000216056 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555286016 13q13.1 13 32354989 G A G E 2379 2379 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696784 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286016 13q13.1 13 32354989 G T G V 2379 2379 missense 0.849 possibly damaging 0.56 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509825 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286018 13q13.1 13 32354992 A C H P 2380 2380 missense 0.086 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574963 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555286018 13q13.1 13 32354992 A G H R 2380 2380 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776916 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566240857 13q13.1 13 32354991 C T H Y 2380 2380 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704719 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs777305503 13q13.1 13 32354994 C G P A 2381 2381 missense 0.947 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704526,pubmed:25394175,ClinVar:RCV000510075 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs746751519 13q13.1 13 32354995 C T P L 2381 2381 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776649 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs746751519 13q13.1 13 32354995 C A P Q 2381 2381 missense 0.989 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs777305503 13q13.1 13 32354994 C T P S 2381 2381 missense 0.984 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1450006002 13q13.1 13 32355000 T C Y H 2383 2383 missense 0.027 benign 0.5 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509667 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55977008 13q13.1 13 32355003 C G Q E 2384 2384 0.001398 missense 0.054 benign 0.24 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55977008 13q13.1 13 32355003 C A Q K 2384 2384 missense 0.001 benign 1.0 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:227650 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000404007,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000148435 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286021 13q13.1 13 32355007 T G V G 2385 2385 missense 0.571 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs781193092 13q13.1 13 32355009 T C S P 2386 2386 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566240897 13q13.1 13 32355012 G A A T 2387 2387 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777393 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587778126 13q13.1 13 32355013 C T A V 2387 2387 missense 0.402 benign 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1060502390 13q13.1 13 32355015 A G T A 2388 2388 missense 0.173 benign 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286026 13q13.1 13 32355016 C T T I 2388 2388 missense 0.015 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000664262 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1302207132 13q13.1 13 32355019 G A R K 2389 2389 missense 0.991 probably damaging 0.21 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575519 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876660772 13q13.1 13 32355021 A G N D 2390 2390 missense 0.221 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000554822,pubmed:25394175,ClinVar:RCV000221310 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1333105541 13q13.1 13 32355025 A G E G 2391 2391 missense 0.869 possibly damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs745768526 13q13.1 13 32355027 A G K E 2392 2392 missense 0.006 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825351 13q13.1 13 32355031 T C M T 2393 2393 missense 0.007 benign 0.52 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131350 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358945 13q13.1 13 32355030 A G M V 2393 2393 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113716,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045154,pubmed:25394175,ClinVar:RCV000165742 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358946 13q13.1 13 32355033 A T R * 2394 2394 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077398,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045156,pubmed:25394175,ClinVar:RCV000131033 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881580 13q13.1 13 32355038 C A H Q 2395 2395 missense 0.003 benign 0.19 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658803 13q13.1 13 32355040 T A L * 2396 2396 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257537 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587780871 13q13.1 13 32355041 G T L F 2396 2396 missense 0.469 possibly damaging 0.38 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658803 13q13.1 13 32355040 T C L S 2396 2396 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213775 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80358947 13q13.1 13 32355046 C T T I 2398 2398 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777624 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358947 13q13.1 13 32355046 C G T S 2398 2398 missense 0.043 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113718,pubmed:25394175,ClinVar:RCV000166255 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358948 13q13.1 13 32355048 A G T A 2399 2399 missense 0.102 benign 0.32 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113719 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202614 13q13.1 13 32355049 C T T I 2399 2399 missense 0.344 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165508 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs964130792 13q13.1 13 32355052 G A G D 2400 2400 missense 0.131 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774659 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1244030146 13q13.1 13 32355051 G A G S 2400 2400 missense 0.326 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561627 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286036 13q13.1 13 32355054 A G R G 2401 2401 missense 0.005 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637715 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566240981 13q13.1 13 32355058 C G P R 2402 2402 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774475 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781764 13q13.1 13 32355060 A G T A 2403 2403 missense 0.029 benign 0.48 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000705524,pubmed:25394175,ClinVar:RCV000129990 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs878853600 13q13.1 13 32355061 C T T I 2403 2403 missense 0.159 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000230599,pubmed:25394175,ClinVar:RCV000574669 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040691 13q13.1 13 32355063 A T K * 2404 2404 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256528 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1180647652 13q13.1 13 32355067 T A V D 2405 2405 missense 0.921 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1180647652 13q13.1 13 32355067 T G V G 2405 2405 missense 0.888 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575833 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286046 13q13.1 13 32355066 G C V L 2405 2405 missense 0.249 benign 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637660 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358949 13q13.1 13 32355071 T G F L 2406 2406 missense 0.991 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113725 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed rs368577752 13q13.1 13 32355070 T C F S 2406 2406 missense 0.998 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1387721179 13q13.1 13 32355072 G A V I 2407 2407 missense 0.015 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs398122577 13q13.1 13 32355075 C G P A 2408 2408 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561315 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1416388963 13q13.1 13 32355076 C T P L 2408 2408 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs398122577 13q13.1 13 32355075 C T P S 2408 2408 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697809 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs759999459 13q13.1 13 32355079 C T P L 2409 2409 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs765689636 13q13.1 13 32355084 A G K E 2411 2411 missense 0.996 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358950 13q13.1 13 32355085 A C K T 2411 2411 missense 0.998 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659118 13q13.1 13 32355087 A G T A 2412 2412 missense 0.453 possibly damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214221 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507384 13q13.1 13 32355088 C T T I 2412 2412 missense 0.638 possibly damaging 0.02 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031670 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659118 13q13.1 13 32355087 A C T P 2412 2412 missense 0.059 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000800518,pubmed:25394175,ClinVar:RCV000509739 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286056 13q13.1 13 32355090 A G K E 2413 2413 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571699 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358951 13q13.1 13 32355094 C G S * 2414 2414 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113736,pubmed:25394175,ClinVar:RCV000217367 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286057 13q13.1 13 32355093 T G S A 2414 2414 missense 0.991 probably damaging 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509968 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358951 13q13.1 13 32355094 C T S L 2414 2414 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566196 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs781092796 13q13.1 13 32355097 A G H R 2415 2415 missense 0.024 benign 0.19 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000463897 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1291364563 13q13.1 13 32355102 C A H N 2417 2417 missense 0.823 possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs750264715 13q13.1 13 32355103 A G H R 2417 2417 missense 0.839 possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358953 13q13.1 13 32355105 A G R G 2418 2418 missense 0.019 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113740,pubmed:25394175,ClinVar:RCV000163032 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122578 13q13.1 13 32355106 G A R K 2418 2418 missense 0.033 benign 0.45 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076990,pubmed:25394175,ClinVar:RCV000509928 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507385 13q13.1 13 32355111 G T E * 2420 2420 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031671,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045178,pubmed:25394175,ClinVar:RCV000221529 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507908 13q13.1 13 32355114 C T Q * 2421 2421 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241497 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730882169 13q13.1 13 32355119 T A C * 2422 2422 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000162058,pubmed:25394175,ClinVar:RCV000580352 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1393996926 13q13.1 13 32355120 G A V I 2423 2423 missense 0.025 benign 0.34 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637535 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202621 13q13.1 13 32355123 A G R G 2424 2424 missense 0.124 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000702277,pubmed:25394175,ClinVar:RCV000165519 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs756057155 13q13.1 13 32355124 G C R T 2424 2424 missense 0.167 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773095 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658292 13q13.1 13 32355126 A G N D 2425 2425 missense 0.003 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217666 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286064 13q13.1 13 32355130 T C I T 2426 2426 missense 0.029 benign 0.54 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000550828,pubmed:25394175,ClinVar:RCV000775959 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286063 13q13.1 13 32355129 A G I V 2426 2426 missense 0.015 benign 0.45 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509606 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040696 13q13.1 13 32355136 T A L * 2428 2428 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256775 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286073 13q13.1 13 32355147 A G R G 2432 2432 missense 0.021 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571639 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1364927725 13q13.1 13 32355148 G A R K 2432 2432 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs80358954 13q13.1 13 32355154 A G K R 2434 2434 missense 0.71 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582121 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs80358954 13q13.1 13 32355154 A C K T 2434 2434 missense 0.805 possibly damaging 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113743,pubmed:25394175,ClinVar:RCV000562219 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507910 13q13.1 13 32355156 C T Q * 2435 2435 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257341 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs397507910 13q13.1 13 32355156 C G Q E 2435 2435 missense 0.986 probably damaging 0.41 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202355 13q13.1 13 32355157 A G Q R 2435 2435 missense 0.991 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000464503,pubmed:25394175,ClinVar:RCV000165121 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358955 13q13.1 13 32355160 A T N I 2436 2436 missense 0.983 probably damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358955 13q13.1 13 32355160 A G N S 2436 2436 missense 0.889 possibly damaging 0.62 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132510 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1131692103 13q13.1 13 32355164 T G I M 2437 2437 missense 0.902 possibly damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509644 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs771175403 13q13.1 13 32355162 A G I V 2437 2437 missense 0.307 benign 0.35 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358957 13q13.1 13 32355166 A G D G 2438 2438 missense 0.558 possibly damaging 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs776936973 13q13.1 13 32355165 G A D N 2438 2438 missense 0.059 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs776936973 13q13.1 13 32355165 G T D Y 2438 2438 missense 0.959 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286076 13q13.1 13 32355169 G C G A 2439 2439 missense 0.124 benign 0.38 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580311 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555286076 13q13.1 13 32355169 G A G E 2439 2439 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000698769 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs4986860 13q13.1 13 32355172 A C H P 2440 2440 missense 0.744 possibly damaging 0.17 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217934 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs4986860 13q13.1 13 32355172 A G H R 2440 2440 missense 0.544 possibly damaging 0.27 tolerated 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:227650 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000305952 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286077 13q13.1 13 32355171 C T H Y 2440 2440 missense 0.003 benign 0.85 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000799628,pubmed:25394175,ClinVar:RCV000509651 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358958 13q13.1 13 32355175 G C G A 2441 2441 missense 0.883 possibly damaging 0.11 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113746,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045188 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs80358958 13q13.1 13 32355175 G A G D 2441 2441 missense 0.076 benign 0.36 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1253095981 13q13.1 13 32355181 A G D G 2443 2443 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1460835970 13q13.1 13 32355180 G A D N 2443 2443 missense 0.046 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825352 13q13.1 13 32355184 A G D G 2444 2444 missense 0.0 benign 0.34 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082971,pubmed:25394175,ClinVar:RCV000166106 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122579 13q13.1 13 32355183 G C D H 2444 2444 missense 0.714 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825352 13q13.1 13 32355184 A T D V 2444 2444 missense 0.316 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471031,pubmed:25394175,ClinVar:RCV000129097 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs4986859 13q13.1 13 32355192 A G N D 2447 2447 missense 0.342 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238906,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476866,pubmed:25394175,ClinVar:RCV000165439 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs763490852 13q13.1 13 32355193 A C N T 2447 2447 missense 0.342 benign 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786204069 13q13.1 13 32355195 A C K Q 2448 2448 missense 0.217 benign 0.21 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167955 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825353 13q13.1 13 32355196 A G K R 2448 2448 missense 0.117 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082972,pubmed:25394175,ClinVar:RCV000773096 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1057520563 13q13.1 13 32355200 T G I M 2449 2449 missense 0.444 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs761505767 13q13.1 13 32355202 A T N I 2450 2450 missense 0.219 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238922,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000804173,pubmed:25394175,ClinVar:RCV000773097 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794968 13q13.1 13 32355204 G C D H 2451 2451 missense 0.644 possibly damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000535290 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794968 13q13.1 13 32355204 G A D N 2451 2451 missense 0.006 benign 0.27 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122580 13q13.1 13 32355207 A G N D 2452 2452 missense 0.054 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213983 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122581 13q13.1 13 32355208 A G N S 2452 2452 missense 0.0 benign 1.0 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000076993 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876660249 13q13.1 13 32355213 A T I F 2454 2454 missense 0.738 possibly damaging 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221214 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286087 13q13.1 13 32355215 T G I M 2454 2454 missense 0.862 possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs755853659 13q13.1 13 32355214 T G I S 2454 2454 missense 0.023 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507912 13q13.1 13 32355219 C T Q * 2456 2456 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257405,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637747,pubmed:25394175,ClinVar:RCV000220866 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507912 13q13.1 13 32355219 C G Q E 2456 2456 missense 0.986 probably damaging 0.15 tolerated 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577543 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286090 13q13.1 13 32355220 A G Q R 2456 2456 missense 0.991 probably damaging 0.19 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637706 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876661273 13q13.1 13 32355223 T G F C 2457 2457 missense 0.865 possibly damaging 0.11 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637636 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1278943365 13q13.1 13 32355225 A C N H 2458 2458 missense 0.94 probably damaging 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202262 13q13.1 13 32355226 A G N S 2458 2458 missense 0.118 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476898,pubmed:25394175,ClinVar:RCV000164985 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507913 13q13.1 13 32355228 A T K * 2459 2459 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257076,pubmed:25394175,ClinVar:RCV000570827 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP rs553984945 13q13.1 13 32355229 A G K R 2459 2459 missense 0.996 probably damaging 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579942 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286092 13q13.1 13 32355231 A C N H 2460 2460 missense 0.94 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564541 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566241254 13q13.1 13 32355232 A G N S 2460 2460 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774183 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566241260 13q13.1 13 32355235 A G N S 2461 2461 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000819011,pubmed:25394175,ClinVar:RCV000777431 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs572945276 13q13.1 13 32355243 C G Q E 2464 2464 missense 0.986 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358960 13q13.1 13 32355247 C T A V 2465 2465 missense 0.024 benign 0.25 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113750,pubmed:25394175,ClinVar:RCV000564154 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs169547 13q13.1 13 32355250 T C V A 2466 2466 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1237865460 13q13.1 13 32355256 T C V A 2468 2468 missense 0.124 benign 0.83 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1237865460 13q13.1 13 32355256 T A V E 2468 2468 missense 0.178 benign 0.46 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566282 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881553 13q13.1 13 32355255 G A V I 2468 2468 missense 0.006 benign 0.86 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000538908,pubmed:25394175,ClinVar:RCV000217429 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660036 13q13.1 13 32355263 C G F L 2470 2470 missense 0.246 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000705380,pubmed:25394175,ClinVar:RCV000218011 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs771087264 13q13.1 13 32355264 A G T A 2471 2471 missense 0.307 benign 0.45 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000527397,pubmed:25394175,ClinVar:RCV000165920 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502383 13q13.1 13 32355267 A G K E 2472 2472 missense 0.001 benign 0.42 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476204 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs80358963 13q13.1 13 32355268 A C K T 2472 2472 missense 0.1 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286120 13q13.1 13 32355272 T A C * 2473 2473 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000589473 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs786202720 COSM946854 13q13.1 13 32355270 T C C R 2473 2473 missense 0.003 benign 0.35 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000694064,pubmed:25394175,ClinVar:RCV000165673 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs55924966 13q13.1 13 32355271 G A C Y 2473 2473 missense 0.006 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132080 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566241336 13q13.1 13 32355276 G T E * 2475 2475 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000781099 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1358596567 13q13.1 13 32355277 A G E G 2475 2475 missense 0.997 probably damaging 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879248686 13q13.1 13 32355279 G C E Q 2476 2476 missense 0.998 probably damaging 0.07 tolerated 0 Infiltrating duct carcinoma of breast ClinVar:RCV000677845 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358964 13q13.1 13 32355282 C T P S 2477 2477 missense 0.27 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113754,pubmed:25394175,ClinVar:RCV000561349 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358964 13q13.1 13 32355282 C A P T 2477 2477 missense 0.869 possibly damaging 0.24 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531294,pubmed:25394175,ClinVar:RCV000165122 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566241362 13q13.1 13 32355285 T G L V 2478 2478 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000705310 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881555 13q13.1 13 32356428 A G D G 2479 2479 missense 0.999 probably damaging 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471784 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs80358965 13q13.1 13 32356430 T G L V 2480 2480 missense 0.5325 benign, probably damaging 0.05 deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113759,pubmed:25394175,ClinVar:RCV000167294 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs751576331 13q13.1 13 32356433 A T I F 2481 2481 missense 0.488 benign, possibly damaging 0.01 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs751576331 13q13.1 13 32356433 A G I V 2481 2481 missense 0.078 benign 0.17 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566241850 13q13.1 13 32356436 A G T A 2482 2482 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000820402,pubmed:25394175,ClinVar:RCV000775706 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1220614324 13q13.1 13 32356437 C G T R 2482 2482 missense 0.4215 benign, possibly damaging 0.05 deleterious - low confidence, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358966 13q13.1 13 32356439 A G S G 2483 2483 missense 0.012 benign 0.03 deleterious, deleterious - low confidence 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113762,ClinVar:RCV000765135,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765135,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765135,ClinVar:RCV000765135,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000845281,pubmed:25394175,ClinVar:RCV000164907,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765135,ClinVar:RCV000765135,ClinVar:RCV000765135,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765135 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80358967 13q13.1 13 32356440 G A S N 2483 2483 missense 0.153 benign 0.93 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358967 13q13.1 13 32356440 G A S N 2483 2483 missense 0.306 benign 0.86 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566241861 13q13.1 13 32356441 T G S R 2483 2483 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690621 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881556 13q13.1 13 32356448 A G N D 2486 2486 missense 0.296 benign, possibly damaging 0.125 deleterious, tolerated - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476586 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203755 13q13.1 13 32356449 A G N S 2486 2486 missense 0.1355 benign 0.27 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637396,pubmed:25394175,ClinVar:RCV000167198 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286223 13q13.1 13 32356451 G T A S 2487 2487 missense 0.9215 possibly damaging, probably damaging 0.015 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000559805 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs746057464 13q13.1 13 32356454 A G R G 2488 2488 missense 0.904 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529176 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358968 13q13.1 13 32356455 G A R K 2488 2488 missense 0.774 possibly damaging, probably damaging 0.015 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:612555 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077401 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80358968 13q13.1 13 32356455 G A R K 2488 2488 missense 0.993 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358969 13q13.1 13 32356456 A C R S 2488 2488 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113764,pubmed:25394175,ClinVar:RCV000164219 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs80358970 13q13.1 13 32356458 A G D G 2489 2489 missense 0.325 benign, possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031680,pubmed:25394175,ClinVar:RCV000131769 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1422201756 13q13.1 13 32356457 G T D Y 2489 2489 missense 0.8385 possibly damaging, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057520611 13q13.1 13 32356462 A G I M 2490 2490 missense 0.532 possibly damaging 0.46 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000694230 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11571707 13q13.1 13 32356461 T C I T 2490 2490 0.01597 missense 0.001 benign 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11571707 13q13.1 13 32356461 T C I T 2490 2490 missense 0.005 benign 0.14 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000413233 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286235 13q13.1 13 32356460 A G I V 2490 2490 missense 0.047 benign 0.35 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581510 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358971 13q13.1 13 32356463 C T Q * 2491 2491 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113766,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496673,pubmed:25394175,ClinVar:RCV000509717 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP,gnomAD rs185012573 13q13.1 13 32356464 A G Q R 2491 2491 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000819102,pubmed:25394175,ClinVar:RCV000567018 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661086 13q13.1 13 32356471 G A M I 2493 2493 missense 0.003 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690785 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793329 13q13.1 13 32356469 A T M L 2493 2493 missense 0.122 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571269 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs863224597 13q13.1 13 32356470 T G M R 2493 2493 missense 0.172 benign 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238726,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000231954 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs863224597 13q13.1 13 32356470 T C M T 2493 2493 missense 0.009 benign 0.11 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000196776 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793329 13q13.1 13 32356469 A G M V 2493 2493 missense 0.1 benign 0.055 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358972 13q13.1 13 32356472 C T R * 2494 2494 stop gained 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031681,ClinVar:RCV000515398,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000515398,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000515398,ClinVar:RCV000515398,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000225750,pubmed:25394175,ClinVar:RCV000131084,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000515398,ClinVar:RCV000515398,ClinVar:RCV000515398,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000515398 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358972 13q13.1 13 32356472 C T R * 2494 2494 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358973 COSM946860 13q13.1 13 32356473 G A R Q 2494 2494 missense 0.996 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083135 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358974 13q13.1 13 32356476 T C I T 2495 2495 missense 0.999 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077402 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs774994294 13q13.1 13 32356480 G C K N 2496 2496 missense 0.557 benign, probably damaging 0.015 deleterious 0 Ovarian cancer Ovarian cancer is a disease that affects women. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000548075,pubmed:25394175,ClinVar:RCV000580739,pubmed:22964825,pubmed:24493721,ClinVar:RCV000677834 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358975 13q13.1 13 32356479 A C K T 2496 2496 missense 0.6015 benign, probably damaging 0.06 deleterious, tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113768 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587776469 13q13.1 13 32356485 A C K T 2498 2498 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144190,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476388 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660447 13q13.1 13 32356487 C T Q * 2499 2499 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256887 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660447 13q13.1 13 32356487 C G Q E 2499 2499 missense 0.009 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220487 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358976 13q13.1 13 32356491 G A R K 2500 2500 missense 0.0 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000794184,pubmed:25394175,ClinVar:RCV000166203 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358976 13q13.1 13 32356491 G C R T 2500 2500 missense 0.1785 benign 0.085 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358976 13q13.1 13 32356491 G C R T 2500 2500 missense 0.068 benign 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040711 13q13.1 13 32356493 C T Q * 2501 2501 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257413,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637381,pubmed:25394175,ClinVar:RCV000561200 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55716624 13q13.1 13 32356496 C T R C 2502 2502 missense 0.154 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:25394175,ClinVar:RCV000131136 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs56070345 13q13.1 13 32356497 G A R H 2502 2502 missense 0.001 benign 0.5 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs56070345 13q13.1 13 32356497 G T R L 2502 2502 2.0E-4 missense 0.13 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs56070345 13q13.1 13 32356497 G T R L 2502 2502 missense 0.3175 benign, possibly damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217818 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs56070345 13q13.1 13 32356497 G C R P 2502 2502 missense 0.942 probably damaging 0.18 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113770,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697931 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs56070345 13q13.1 13 32356497 G C R P 2502 2502 2.0E-4 missense 0.558 possibly damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs55716624 13q13.1 13 32356496 C A R S 2502 2502 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203292 13q13.1 13 32356500 T A V D 2503 2503 missense 0.655 benign, possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166533 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203292 13q13.1 13 32356500 T G V G 2503 2503 missense 0.599 benign, possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000536506 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782191 13q13.1 13 32356499 G A V I 2503 2503 missense 0.001 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130837 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358977 13q13.1 13 32356504 T A F L 2504 2504 missense 0.025 benign 0.66 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358977 13q13.1 13 32356504 T G F L 2504 2504 missense 0.025 benign 0.66 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113771 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658631 13q13.1 13 32356508 C T Q * 2506 2506 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256919,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496223,pubmed:25394175,ClinVar:RCV000215458 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs776233733 13q13.1 13 32356510 G T Q H 2506 2506 missense 0.5305 benign, probably damaging 0.03 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658734 13q13.1 13 32356511 C G P A 2507 2507 missense 0.5025 benign, probably damaging 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214182 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658948 13q13.1 13 32356512 C T P L 2507 2507 missense 0.5955 benign, probably damaging 0.045 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213974 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881557 13q13.1 13 32356515 G A G D 2508 2508 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509915 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358978 13q13.1 13 32356514 G A G S 2508 2508 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358978 13q13.1 13 32356514 G A G S 2508 2508 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286271 13q13.1 13 32356518 G A S N 2509 2509 missense 0.499 benign, probably damaging 0.015 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286268 13q13.1 13 32356517 A C S R 2509 2509 missense 0.5405 benign, probably damaging 0.095 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358979 13q13.1 13 32356521 T C L P 2510 2510 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:605724 pubmed:12065746,pubmed:14670928,pubmed:16825431,pubmed:21719596,pubmed:23108138 pubmed:25394175,ClinVar:RCV000509658 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793861 13q13.1 13 32356524 A G Y C 2511 2511 missense 0.047 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706875 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358980 13q13.1 13 32356526 C T L F 2512 2512 missense 0.622 benign, probably damaging 0.065 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130690 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80358980 13q13.1 13 32356526 C T L F 2512 2512 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502401 13q13.1 13 32356530 C A A E 2513 2513 missense 0.433 benign, possibly damaging 0.205 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000458619 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286273 13q13.1 13 32356529 G A A T 2513 2513 missense 0.034 benign 0.33 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637342 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1060502401 13q13.1 13 32356530 C T A V 2513 2513 missense 0.2795 benign, possibly damaging 0.28 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs864622624 13q13.1 13 32356532 A G K E 2514 2514 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203975,pubmed:25394175,ClinVar:RCV000222575 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286275 13q13.1 13 32356533 A C K T 2514 2514 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000551397 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897744 13q13.1 13 32356536 C T T I 2515 2515 missense 0.719 benign, probably damaging 0.04 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:25394175,ClinVar:RCV000162697 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs28897744 13q13.1 13 32356536 C T T I 2515 2515 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1224022477 13q13.1 13 32356535 A C T P 2515 2515 missense 0.939 possibly damaging, probably damaging 0.005 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1411116504 13q13.1 13 32356538 T G S A 2516 2516 missense 0.5215 benign, probably damaging 0.045 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs571800995 13q13.1 13 32356539 C G S C 2516 2516 missense 0.948 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467439,pubmed:25394175,ClinVar:RCV000220347 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs571800995 13q13.1 13 32356539 C T S F 2516 2516 missense 0.618 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662938,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697908,pubmed:25394175,ClinVar:RCV000217254 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286277 13q13.1 13 32356542 C T T I 2517 2517 missense 0.4 benign, possibly damaging 0.045 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000525578 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555286277 13q13.1 13 32356542 C G T S 2517 2517 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776920 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566242089 13q13.1 13 32356545 T G L R 2518 2518 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775318 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286279 13q13.1 13 32356544 C G L V 2518 2518 missense 0.035 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509814 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs545454796 13q13.1 13 32356548 C T P L 2519 2519 2.0E-4 missense 0.5465 benign, probably damaging 0.095 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs80358981 13q13.1 13 32356550 C T R * 2520 2520 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:604370,MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000210182,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077405,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045244,pubmed:25394175,ClinVar:RCV000162645,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000148425 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358982 13q13.1 13 32356551 G T R L 2520 2520 missense 0.948 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637575,pubmed:25394175,ClinVar:RCV000166867 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358982 13q13.1 13 32356551 G T R L 2520 2520 missense 0.435 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358982 13q13.1 13 32356551 G C R P 2520 2520 missense 0.92 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122929,pubmed:25394175,ClinVar:RCV000214969 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358982 13q13.1 13 32356551 G A R Q 2520 2520 missense 0.4545 benign, possibly damaging 0.015 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80358982 COSM1366471 13q13.1 13 32356551 G A R Q 2520 2520 missense 0.438 benign, possibly damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082974 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358984 13q13.1 13 32356554 T C I T 2521 2521 missense 0.541 benign, probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083137,pubmed:25394175,ClinVar:RCV000572552 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358983 13q13.1 13 32356553 A G I V 2521 2521 missense 0.4715 benign, probably damaging 0.115 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113776,pubmed:25394175,ClinVar:RCV000219637 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358985 13q13.1 13 32356557 C T S F 2522 2522 missense 0.853 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80358985 13q13.1 13 32356557 C T S F 2522 2522 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064796053 13q13.1 13 32356560 T C L P 2523 2523 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286291 13q13.1 13 32356562 A T K * 2524 2524 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561996 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286291 13q13.1 13 32356562 A G K E 2524 2524 missense 0.997 probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000528917 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203133 13q13.1 13 32356565 G A A T 2525 2525 missense 0.005 benign 0.66 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166307 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782676 13q13.1 13 32356572 T C V A 2527 2527 missense 0.744 possibly damaging, probably damaging 0.03 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637450,pubmed:25394175,ClinVar:RCV000132102 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286293 13q13.1 13 32356571 G A V I 2527 2527 missense 0.6925 benign, probably damaging 0.04 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000532571 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555286293 13q13.1 13 32356571 G T V L 2527 2527 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773023 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358986 13q13.1 13 32356575 G A G E 2528 2528 missense 0.5115 benign, probably damaging 0.875 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113777 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP,gnomAD rs398122585 13q13.1 13 32356577 G A G S 2529 2529 missense 0.364 benign, possibly damaging 0.115 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077000,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637466,pubmed:25394175,ClinVar:RCV000218797 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202429 13q13.1 13 32356582 A C Q H 2530 2530 missense 0.739 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165237 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs786202429 13q13.1 13 32356582 A T Q H 2530 2530 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775693 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1252591831 13q13.1 13 32356581 A C Q P 2530 2530 missense 0.736 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1252591831 13q13.1 13 32356581 A G Q R 2530 2530 missense 0.003 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs967458408 13q13.1 13 32356587 C A P H 2532 2532 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000538315 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs967458408 13q13.1 13 32356587 C T P L 2532 2532 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507388 13q13.1 13 32356586 C T P S 2532 2532 missense 0.994 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031689,pubmed:25394175,ClinVar:RCV000222549 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs397507388 13q13.1 13 32356586 C A P T 2532 2532 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774404 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786204150 13q13.1 13 32356589 T G S A 2533 2533 missense 0.2405 benign, possibly damaging 0.29 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168141 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358987 13q13.1 13 32356590 C G S C 2533 2533 missense 0.4725 benign, probably damaging 0.05 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031690,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045255,pubmed:25394175,ClinVar:RCV000130650 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80358987 13q13.1 13 32356590 C T S F 2533 2533 missense 0.07 benign 0.07 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs74047012 13q13.1 13 32356593 C A A E 2534 2534 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776756 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs74047012 13q13.1 13 32356593 C G A G 2534 2534 missense 0.003 benign 0.48 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74047012 13q13.1 13 32356593 C G A G 2534 2534 5.99E-4 missense 0.167 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286305 13q13.1 13 32356592 G A A T 2534 2534 missense 0.181 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000546474,pubmed:25394175,ClinVar:RCV000509992 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs74047012 13q13.1 13 32356593 C T A V 2534 2534 missense 0.003 benign 0.51 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220233 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs74047012 13q13.1 13 32356593 C T A V 2534 2534 5.99E-4 missense 0.009 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286309 13q13.1 13 32356595 T C C R 2535 2535 missense 0.009 benign 0.29 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs966152147 13q13.1 13 32356597 T G C W 2535 2535 missense 0.776 possibly damaging 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469552,pubmed:25394175,ClinVar:RCV000570362 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203482 13q13.1 13 32356596 G A C Y 2535 2535 missense 0.029 benign 0.95 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000809247,pubmed:25394175,ClinVar:RCV000166802 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs169548 13q13.1 13 32356598 T C S P 2536 2536 missense 0.524 benign, probably damaging 0.035 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218857 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358988 13q13.1 13 32356602 A G H R 2537 2537 missense 0.506 benign, probably damaging 0.365 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113792,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045257,pubmed:25394175,ClinVar:RCV000573982 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286310 13q13.1 13 32356601 C T H Y 2537 2537 missense 0.5205 benign, probably damaging 0.54 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000556744 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507921 13q13.1 13 32356604 A T K * 2538 2538 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257025 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507921 13q13.1 13 32356604 A G K E 2538 2538 missense 0.993 probably damaging 0.18 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077001,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000686189 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040720 13q13.1 13 32356607 C T Q * 2539 2539 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257556,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000707435 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1442441018 COSM4047096 13q13.1 13 32356609 G T Q H 2539 2539 missense 0.706 benign, possibly damaging, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs144728108 13q13.1 13 32356608 A G Q R 2539 2539 missense 0.5555 benign, probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077002,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195784,pubmed:25394175,ClinVar:RCV000509684 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507390 13q13.1 13 32357742 C A L M 2540 2540 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031693,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545892,pubmed:25394175,ClinVar:RCV000166080 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566242642 13q13.1 13 32357746 A G Y C 2541 2541 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000692297 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358989 13q13.1 13 32357749 C A T K 2542 2542 missense 0.0335 benign 0.46 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000232063 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,dbSNP,gnomAD rs80358989 COSM946862 13q13.1 13 32357749 C T T M 2542 2542 missense 0.0 benign 1.0 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082975,ClinVar:RCV000515343,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000515343,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000515343,ClinVar:RCV000515343,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000197583,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000515343,ClinVar:RCV000515343,ClinVar:RCV000515343,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000515343 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358989 13q13.1 13 32357749 C G T R 2542 2542 missense 0.0605 benign 0.27 deleterious, tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113796 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794521 13q13.1 13 32357753 T A Y * 2543 2543 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661778 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs431825354 13q13.1 13 32357752 A G Y C 2543 2543 missense 0.507 benign, probably damaging 0.16 tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082976,ClinVar:RCV000765136,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765136,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765136,ClinVar:RCV000765136,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122930,pubmed:25394175,ClinVar:RCV000509648,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765136,ClinVar:RCV000765136,ClinVar:RCV000765136,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765136 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507926 13q13.1 13 32357755 G A G D 2544 2544 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045271,pubmed:25394175,ClinVar:RCV000214936 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781485 13q13.1 13 32357754 G C G R 2544 2544 missense 0.9685 probably damaging 0.035 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000225896,pubmed:25394175,ClinVar:RCV000580094 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781485 13q13.1 13 32357754 G A G S 2544 2544 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662876,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000161933,pubmed:25394175,ClinVar:RCV000129445 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,dbSNP,gnomAD rs80358990 COSM4047098 13q13.1 13 32357757 G A V I 2545 2545 missense 0.202 benign 0.28 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113799,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045272,pubmed:25394175,ClinVar:RCV000130821 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs398122586 13q13.1 13 32357761 C G S C 2546 2546 missense 0.649 benign, probably damaging 0.005 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122586 13q13.1 13 32357761 C T S F 2546 2546 missense 0.9195 possibly damaging, probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077003,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000199472,pubmed:25394175,ClinVar:RCV000130695 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286392 13q13.1 13 32357760 T C S P 2546 2546 missense 0.5025 benign, probably damaging 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568228 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358991 13q13.1 13 32357763 A G K E 2547 2547 missense 0.3965 benign, possibly damaging 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113800,pubmed:25394175,ClinVar:RCV000216129 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358992 13q13.1 13 32357767 A T H L 2548 2548 missense 0.5055 benign, probably damaging 0.025 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132195 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358992 13q13.1 13 32357767 A G H R 2548 2548 missense 0.5015 benign, probably damaging 0.065 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031694,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045275,pubmed:25394175,ClinVar:RCV000129573 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358993 13q13.1 13 32357771 C A C * 2549 2549 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113801 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286395 13q13.1 13 32357770 G C C S 2549 2549 missense 0.712 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563644 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs41293507 13q13.1 13 32357772 A C I L 2550 2550 missense 0.027 benign 0.37 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs41293507 13q13.1 13 32357772 A G I V 2550 2550 missense 0.0 benign 0.54 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077004,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000559770,pubmed:25394175,ClinVar:RCV000776374 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs398122587 13q13.1 13 32357775 A C K Q 2551 2551 missense 0.998 probably damaging 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122587 13q13.1 13 32357775 A C K Q 2551 2551 missense 0.506 benign, probably damaging 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077005,pubmed:25394175,ClinVar:RCV000132265 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255464 13q13.1 13 32357784 A G S G 2554 2554 missense 0.6195 benign, probably damaging 0.025 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238966,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000798016,pubmed:25394175,ClinVar:RCV000567399 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122588 13q13.1 13 32357785 G A S N 2554 2554 missense 0.633 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077006,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637761,pubmed:25394175,ClinVar:RCV000215704 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566242721 13q13.1 13 32357787 A G K E 2555 2555 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776410 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876658624 13q13.1 13 32357793 G A A T 2557 2557 missense 0.974 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637601,pubmed:25394175,ClinVar:RCV000216497 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs775219538 13q13.1 13 32357794 C T A V 2557 2557 missense 0.924 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773099 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881558 13q13.1 13 32357798 G C E D 2558 2558 missense 0.191 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037816 13q13.1 13 32357796 G C E Q 2558 2558 missense 0.4975 benign, possibly damaging 0.015 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240775 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122589 13q13.1 13 32357797 A T E V 2558 2558 missense 0.4035 benign, possibly damaging 0.015 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077007,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695567 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502421 13q13.1 13 32357800 C G S C 2559 2559 missense 0.5295 benign, probably damaging 0.045 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000473973 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566242753 13q13.1 13 32357804 T G F L 2560 2560 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776985 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed rs376460800 13q13.1 13 32357803 T C F S 2560 2560 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358994 13q13.1 13 32357805 C T Q * 2561 2561 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083140,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496838,pubmed:25394175,ClinVar:RCV000773271 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786201304 13q13.1 13 32357807 G C Q H 2561 2561 missense 0.917 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214747 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,gnomAD rs55647716 13q13.1 13 32357806 A C Q P 2561 2561 missense 0.5605 benign, possibly damaging 0.005 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs55647716 13q13.1 13 32357806 A G Q R 2561 2561 missense 0.2435 benign, possibly damaging 0.285 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000412336,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195904,pubmed:25394175,ClinVar:RCV000217467 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782715 13q13.1 13 32357809 T G F C 2562 2562 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000692491,pubmed:25394175,ClinVar:RCV000132194 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358995 13q13.1 13 32357808 T C F L 2562 2562 missense 0.994 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031696,pubmed:25394175,ClinVar:RCV000220943 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80358995 13q13.1 13 32357808 T G F V 2562 2562 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000792172 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs431825355 13q13.1 13 32357815 C T T I 2564 2564 missense 0.006 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825355 13q13.1 13 32357815 C G T S 2564 2564 missense 0.279 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000806708,pubmed:25394175,ClinVar:RCV000575205 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs764761862 13q13.1 13 32357817 G A E K 2565 2565 missense 0.0375 benign 0.275 deleterious, tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000765137,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765137,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765137,ClinVar:RCV000765137,pubmed:25394175,ClinVar:RCV000509639,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765137,ClinVar:RCV000765137,ClinVar:RCV000765137,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765137 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358996 13q13.1 13 32357820 G T D Y 2566 2566 missense 0.7875 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113806,pubmed:25394175,ClinVar:RCV000574470 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286422 13q13.1 13 32357823 T C Y H 2567 2567 missense 0.5275 benign, probably damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569734 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587781943 13q13.1 13 32357830 G A G D 2569 2569 missense 0.5385 benign, possibly damaging 0.015 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000526968,pubmed:25394175,ClinVar:RCV000130311 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286424 13q13.1 13 32357829 G A G S 2569 2569 missense 0.084 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509905 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659346 COSM946864 13q13.1 13 32357832 A T K * 2570 2570 stop gained -1.0 unknown -1.0 unknown 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257007 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659346 13q13.1 13 32357832 A G K E 2570 2570 missense 0.5 benign, probably damaging 0.13 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000227679,pubmed:25394175,ClinVar:RCV000222385 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881559 13q13.1 13 32357833 A G K R 2570 2570 missense 0.5015 benign, probably damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218432 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55689095 13q13.1 13 32357836 A C E A 2571 2571 2.0E-4 missense 0.7255 possibly damaging, probably damaging 0.005 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55689095 13q13.1 13 32357836 A G E G 2571 2571 missense 0.9145 possibly damaging, probably damaging 0.005 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195380 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659501 13q13.1 13 32357835 G A E K 2571 2571 missense 0.616 benign, probably damaging 0.025 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662909,pubmed:25394175,ClinVar:RCV000220452 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55689095 13q13.1 13 32357836 A T E V 2571 2571 missense 0.752 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584307 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1060502442 13q13.1 13 32357838 A G S G 2572 2572 missense 0.01 benign 0.33 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502442 13q13.1 13 32357838 A C S R 2572 2572 missense 0.127 benign 0.38 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000465738 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203680 13q13.1 13 32357842 T G L * 2573 2573 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241252,pubmed:25394175,ClinVar:RCV000167091 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358997 13q13.1 13 32357845 G A W * 2574 2574 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077408,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000416519 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502433 13q13.1 13 32357846 G A W * 2574 2574 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661664,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472083,pubmed:25394175,ClinVar:RCV000563168 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1060502433 13q13.1 13 32357846 G T W C 2574 2574 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773898 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs755002206 13q13.1 13 32357844 T C W R 2574 2574 missense 0.001 benign 0.42 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164502 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793308 13q13.1 13 32357847 A G T A 2575 2575 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1210418849 13q13.1 13 32357850 G A G R 2576 2576 missense 0.8935 possibly damaging, probably damaging 0.035 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286431 13q13.1 13 32357854 A G K R 2577 2577 missense 0.013 benign 0.13 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637677 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122590 13q13.1 13 32357857 G A G E 2578 2578 missense 0.995 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077008,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122931,pubmed:25394175,ClinVar:RCV000217106 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358999 13q13.1 13 32357862 C T Q * 2580 2580 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113809,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496258 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795508 13q13.1 13 32357863 A G Q R 2580 2580 missense 0.5015 benign, probably damaging 0.06 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637758,pubmed:25394175,ClinVar:RCV000573542 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359000 13q13.1 13 32357866 T G L W 2581 2581 missense 0.999 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113810 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660384 13q13.1 13 32357868 G A A T 2582 2582 missense 0.7365 possibly damaging, probably damaging 0.005 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000463676,pubmed:25394175,ClinVar:RCV000219913 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286436 13q13.1 13 32357874 G T G C 2584 2584 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567951 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs80359001 13q13.1 13 32357875 G A G D 2584 2584 missense 0.993 probably damaging 0.035 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113811,pubmed:25394175,ClinVar:RCV000131991 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs753891750 13q13.1 13 32357878 G C G A 2585 2585 missense 0.5375 benign, probably damaging 0.15 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359002 13q13.1 13 32357877 G A G R 2585 2585 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113812 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359004 13q13.1 13 32357882 G A W * 2586 2586 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031698,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496860,pubmed:25394175,ClinVar:RCV000569377 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359003 13q13.1 13 32357881 G A W * 2586 2586 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000735604,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077410,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045302,pubmed:25394175,ClinVar:RCV000131087 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs56335340 13q13.1 13 32357883 C T L F 2587 2587 missense 0.99 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs56335340 13q13.1 13 32357883 C T L F 2587 2587 missense 0.999 probably damaging 0.0 deleterious 0 Carcinoma of colon (CRC) Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, stomach, ovary, small bowel, hepatobiliary tract, urinary tract, brain, and skin. MIM:114500 pubmed:17060676,pubmed:19042984,pubmed:20301390,pubmed:22138009,pubmed:22855150,pubmed:23012255,pubmed:23429431,pubmed:23852704,pubmed:24996433,pubmed:25006736,pubmed:25373533,ClinVar:RCV000416750 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286445 13q13.1 13 32357884 T A L H 2587 2587 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565387 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359005 13q13.1 13 32357890 C A P H 2589 2589 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083141,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045308,pubmed:25394175,ClinVar:RCV000509978 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359005 13q13.1 13 32357890 C T P L 2589 2589 missense 0.9585 probably damaging 0.495 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688019,pubmed:25394175,ClinVar:RCV000221918 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs753047043 13q13.1 13 32357889 C T P S 2589 2589 missense 0.927 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000540925,pubmed:25394175,ClinVar:RCV000510040 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs753047043 13q13.1 13 32357889 C A P T 2589 2589 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573613 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202615 13q13.1 13 32357893 C G S C 2590 2590 missense 0.929 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165510 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507392 13q13.1 13 32357892 T C S P 2590 2590 missense 0.725 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219671 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs778060629 13q13.1 13 32357895 A G N D 2591 2591 missense 0.003 benign 0.65 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562419 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs778060629 13q13.1 13 32357895 A C N H 2591 2591 missense 0.467 benign, probably damaging 0.025 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359006 13q13.1 13 32357896 A G N S 2591 2591 missense 0.0235 benign 0.15 deleterious, tolerated 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113816,pubmed:25394175,ClinVar:RCV000677097,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240696 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1279697432 13q13.1 13 32357899 A G D G 2592 2592 missense 0.539 benign, probably damaging 0.045 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782028 13q13.1 13 32357901 G T G * 2593 2593 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241421,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000499832,pubmed:25394175,ClinVar:RCV000130472 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876660874 13q13.1 13 32357905 A G K R 2594 2594 missense 0.498 benign, probably damaging 0.17 deleterious, tolerated 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000765138,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765138,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765138,ClinVar:RCV000765138,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637678,pubmed:25394175,ClinVar:RCV000220613,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765138,ClinVar:RCV000765138,ClinVar:RCV000765138,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765138 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286463 13q13.1 13 32357908 C G A G 2595 2595 missense 0.623 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509784 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359007 13q13.1 13 32357907 G T A S 2595 2595 missense 0.701 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113817,pubmed:25394175,ClinVar:RCV000509610 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359007 13q13.1 13 32357907 G A A T 2595 2595 missense 0.131 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215916 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795140 13q13.1 13 32357911 G A G E 2596 2596 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122591 13q13.1 13 32357910 G A G R 2596 2596 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000770731,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077009,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000197789,pubmed:25394175,ClinVar:RCV000509715 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795140 13q13.1 13 32357911 G T G V 2596 2596 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570320 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286470 13q13.1 13 32357915 A C K N 2597 2597 missense 0.6795 benign, probably damaging 0.015 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509820 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401919 13q13.1 13 32357916 G T E * 2598 2598 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661829,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496865,pubmed:25394175,ClinVar:RCV000573230 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP rs41293509 COSM1366473 13q13.1 13 32357919 G T E * 2599 2599 stop gained -1.0 unknown -1.0 unknown 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256741,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529465 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs41293509 13q13.1 13 32357919 G T E * 2599 2599 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs780715340 13q13.1 13 32357920 A C E A 2599 2599 missense 0.705 benign, probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs780715340 13q13.1 13 32357920 A G E G 2599 2599 missense 0.949 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637780,pubmed:25394175,ClinVar:RCV000562312 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs41293509 13q13.1 13 32357919 G A E K 2599 2599 missense 0.8435 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223559 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs41293509 13q13.1 13 32357919 G A E K 2599 2599 missense 0.998 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401920 13q13.1 13 32357923 T G F C 2600 2600 missense 0.968 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502408 13q13.1 13 32357924 T G F L 2600 2600 missense 0.5285 benign, probably damaging 0.025 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457516 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202344 13q13.1 13 32357926 A G Y C 2601 2601 missense 0.5765 benign, probably damaging 0.005 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000227777,pubmed:25394175,ClinVar:RCV000165105 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507938 13q13.1 13 32357929 G C R T 2602 2602 missense 0.5585 benign, probably damaging 0.005 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000258178 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881560 13q13.1 13 32362524 G T A S 2603 2603 missense 0.6005 benign, probably damaging 0.075 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467924 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881560 13q13.1 13 32362524 G A A T 2603 2603 missense 0.6835 benign, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825357 13q13.1 13 32362528 T C L P 2604 2604 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082980,pubmed:25394175,ClinVar:RCV000165518 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1381434852 13q13.1 13 32362527 C G L V 2604 2604 missense 0.607 benign, probably damaging 0.005 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202527 13q13.1 13 32362531 G A C Y 2605 2605 missense 0.7765 possibly damaging, probably damaging 0.005 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165375 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359008 13q13.1 13 32362536 A G T A 2607 2607 missense 0.4965 benign, probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077011,pubmed:25394175,ClinVar:RCV000566070 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286821 13q13.1 13 32362537 C T T I 2607 2607 missense 0.5115 benign, probably damaging 0.035 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000818024,pubmed:25394175,ClinVar:RCV000575468 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359008 13q13.1 13 32362536 A C T P 2607 2607 missense 0.766 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113829,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045325 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs879255308 13q13.1 13 32362539 C G P A 2608 2608 missense 0.677 benign, probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239253,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474942,pubmed:25394175,ClinVar:RCV000567257 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286825 13q13.1 13 32362540 C A P Q 2608 2608 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000546424 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs879255308 13q13.1 13 32362539 C A P T 2608 2608 missense 0.869 possibly damaging, probably damaging 0.015 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359009 13q13.1 13 32362543 G A G D 2609 2609 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000500087 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359009 13q13.1 13 32362543 G T G V 2609 2609 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216317 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587780661 13q13.1 13 32362545 G A V M 2610 2610 missense 0.8985 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122932,pubmed:25394175,ClinVar:RCV000217800 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359010 13q13.1 13 32362549 A G D G 2611 2611 missense 0.5395 benign, possibly damaging 0.005 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113832,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045327,pubmed:25394175,ClinVar:RCV000165314 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs771981392 13q13.1 13 32362551 C T P S 2612 2612 missense 0.597 benign, probably damaging 0.06 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1358533972 13q13.1 13 32362560 A G I V 2615 2615 missense 0.0585 benign 0.105 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1174303167 13q13.1 13 32362564 C T S F 2616 2616 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776833 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1174303167 13q13.1 13 32362564 C A S Y 2616 2616 missense 0.6955 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567599 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782588 13q13.1 13 32362566 A G R G 2617 2617 missense 0.499 benign, probably damaging 0.06 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131927 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1371216781 13q13.1 13 32362569 A C I L 2618 2618 missense 0.014 benign 0.42 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1193306401 13q13.1 13 32362570 T C I T 2618 2618 missense 0.0 benign 0.5 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507941 13q13.1 13 32362573 G A W * 2619 2619 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241188,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045330 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359011 13q13.1 13 32362574 G A W * 2619 2619 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031704,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496960,pubmed:25394175,ClinVar:RCV000162936 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359011 13q13.1 13 32362574 G C W C 2619 2619 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000664330 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507941 13q13.1 13 32362573 G C W S 2619 2619 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077012,pubmed:25394175,ClinVar:RCV000772119 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174896 13q13.1 13 32362580 T A Y * 2621 2621 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113834 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566244772 13q13.1 13 32362579 A T Y F 2621 2621 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697326 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286837 13q13.1 13 32362581 A G N D 2622 2622 missense 0.995 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637759 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs142899125 13q13.1 13 32362582 A G N S 2622 2622 missense 0.98 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077013,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000197898,pubmed:25394175,ClinVar:RCV000130086 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359012 13q13.1 13 32362585 A G H R 2623 2623 missense 0.913 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031705 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566244783 13q13.1 13 32362584 C T H Y 2623 2623 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695105 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224468 13q13.1 13 32362589 T G Y * 2624 2624 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241341,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000200163 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs431825358 13q13.1 13 32362588 A G Y C 2624 2624 missense 0.9505 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082981,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000257979,pubmed:25394175,ClinVar:RCV000216510 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs864622552 13q13.1 13 32362591 G T R I 2625 2625 missense 0.9075 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000802875 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs864622552 13q13.1 13 32362591 G A R K 2625 2625 missense 0.52 benign, probably damaging 0.095 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204378,pubmed:25394175,ClinVar:RCV000509944 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781506 13q13.1 13 32362594 G A W * 2626 2626 stop gained 0 Ovarian Neoplasms MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000240971,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195555,pubmed:25394175,ClinVar:RCV000129483,ClinVar:RCV000785229 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359013 13q13.1 13 32362595 G A W * 2626 2626 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031706,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045335,pubmed:25394175,ClinVar:RCV000217125 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359013 13q13.1 13 32362595 G A W * 2626 2626 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359013 13q13.1 13 32362595 G C W C 2626 2626 missense 0.975 probably damaging 0.0 deleterious 0 Fanconi anemia complementation group D1 (FANCD1) A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. MIM:612555,MIM:605724 pubmed:12065746,pubmed:14670928,pubmed:16825431,pubmed:21719596,pubmed:23108138 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031707 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359013 13q13.1 13 32362595 G C W C 2626 2626 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502459 13q13.1 13 32362593 T C W R 2626 2626 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704789 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502459 13q13.1 13 32362593 T A W R 2626 2626 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000465347 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359014 13q13.1 13 32362596 A T I F 2627 2627 missense 0.877 possibly damaging 0.0 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:114480,MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077415,ClinVar:RCV000763326,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763326,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763326,ClinVar:RCV000763326,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763326,ClinVar:RCV000763326,ClinVar:RCV000763326,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763326 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658736 13q13.1 13 32362597 T A I N 2627 2627 missense 0.924 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213139 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359014 13q13.1 13 32362596 A G I V 2627 2627 missense 0.019 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130167 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1483187442 13q13.1 13 32362599 A T I L 2628 2628 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs529779203 13q13.1 13 32362601 A G I M 2628 2628 missense 0.4985 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689119,pubmed:25394175,ClinVar:RCV000216002 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs879255465 13q13.1 13 32362600 T C I T 2628 2628 missense 0.412 benign, possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238761,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637454 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1483187442 13q13.1 13 32362599 A G I V 2628 2628 missense 0.061 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637732,pubmed:25394175,ClinVar:RCV000564484 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359015 13q13.1 13 32362603 G A W * 2629 2629 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113835 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040734 13q13.1 13 32362604 G A W * 2629 2629 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256992 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040734 13q13.1 13 32362604 G T W C 2629 2629 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572889 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660528 13q13.1 13 32362608 C A L M 2631 2631 missense 0.949 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217903 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286844 13q13.1 13 32362611 G A A T 2632 2632 missense 0.998 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286846 13q13.1 13 32362615 C G A G 2633 2633 missense 0.499 benign, probably damaging 0.015 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561297 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs431825359 13q13.1 13 32362614 G T A S 2633 2633 missense 0.501 benign, probably damaging 0.265 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082982,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000703286 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1483170360 13q13.1 13 32362619 G A M I 2634 2634 missense 0.5285 benign, probably damaging 0.025 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs786202102 13q13.1 13 32362618 T A M K 2634 2634 missense 0.7875 possibly damaging, probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202102 13q13.1 13 32362618 T C M T 2634 2634 missense 0.853 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164748 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1207483065 13q13.1 13 32362617 A G M V 2634 2634 missense 0.5145 benign, probably damaging 0.015 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359016 13q13.1 13 32362625 T A C * 2636 2636 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113836,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496743 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881561 13q13.1 13 32362627 C T A V 2637 2637 missense 0.437 benign, possibly damaging 0.005 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658206 13q13.1 13 32362629 T C F L 2638 2638 missense 0.5885 benign, probably damaging 0.065 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000824395,pubmed:25394175,ClinVar:RCV000213845 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs764248927 13q13.1 13 32362631 T G F L 2638 2638 missense 0.5885 benign, probably damaging 0.065 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000533964,pubmed:25394175,ClinVar:RCV000167304 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359017 13q13.1 13 32362632 C G P A 2639 2639 missense 0.6345 benign, probably damaging 0.025 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113838,pubmed:25394175,ClinVar:RCV000564997 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs774723315 13q13.1 13 32362633 C T P L 2639 2639 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000199791 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359017 13q13.1 13 32362632 C A P T 2639 2639 missense 0.8935 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165526 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs397507394 13q13.1 13 32362636 A G K R 2640 2640 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773429 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038177 13q13.1 13 32362638 G T E * 2641 2641 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241096 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1287337540 13q13.1 13 32362642 T G F C 2642 2642 missense 0.569 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579474 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286858 13q13.1 13 32362643 T G F L 2642 2642 missense 0.497 benign, probably damaging 0.075 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510022 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286856 13q13.1 13 32362641 T C F L 2642 2642 missense 0.497 benign, probably damaging 0.075 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583322 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359018 13q13.1 13 32362645 C G A G 2643 2643 missense 0.496 benign, probably damaging 0.15 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359018 13q13.1 13 32362645 C G A G 2643 2643 missense 0.992 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077416 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566244896 13q13.1 13 32362644 G A A T 2643 2643 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773402 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359018 13q13.1 13 32362645 C T A V 2643 2643 missense 0.524 benign, probably damaging 0.035 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359018 13q13.1 13 32362645 C T A V 2643 2643 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077015,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000548871,pubmed:25394175,ClinVar:RCV000575971 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825360 13q13.1 13 32362647 A G N D 2644 2644 missense 0.317 benign, possibly damaging 0.065 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082983,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000808327,pubmed:25394175,ClinVar:RCV000213312 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359020 13q13.1 13 32362648 A G N S 2644 2644 missense 0.0 benign 0.54 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077417,pubmed:25394175,ClinVar:RCV000162644 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658889 13q13.1 13 32362650 A T R * 2645 2645 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257376 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs876658889 13q13.1 13 32362650 A T R * 2645 2645 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658889 13q13.1 13 32362650 A G R G 2645 2645 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000552479,pubmed:25394175,ClinVar:RCV000222813 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs876658889 13q13.1 13 32362650 A G R G 2645 2645 missense 0.8755 possibly damaging, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs952496908 13q13.1 13 32362654 G C C S 2646 2646 missense 0.8695 possibly damaging, probably damaging 0.035 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794927 13q13.1 13 32362655 C G C W 2646 2646 missense 0.598 benign, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs952496908 13q13.1 13 32362654 G A C Y 2646 2646 missense 0.6715 benign, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359021 13q13.1 13 32362657 T C L P 2647 2647 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs778391123 13q13.1 13 32362656 C G L V 2647 2647 missense 0.949 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466343,pubmed:25394175,ClinVar:RCV000165643 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502492 13q13.1 13 32362660 G T S I 2648 2648 missense 0.462 benign, possibly damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472002 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286865 13q13.1 13 32362668 A G R G 2651 2651 missense 0.3015 benign, possibly damaging 0.105 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569156 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs752351454 13q13.1 13 32362670 G T R S 2651 2651 missense 0.2745 benign, possibly damaging 0.075 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496607,pubmed:25394175,ClinVar:RCV000166764 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286866 13q13.1 13 32362669 G C R T 2651 2651 missense 0.0175 benign 0.175 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000556351 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286868 13q13.1 13 32362672 T G V G 2652 2652 missense 0.943 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580845 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1466452770 13q13.1 13 32362671 G A V M 2652 2652 missense 0.923 possibly damaging, probably damaging 0.0 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000765139,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765139,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765139,ClinVar:RCV000765139,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529990,pubmed:25394175,ClinVar:RCV000580117,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765139,ClinVar:RCV000765139,ClinVar:RCV000765139,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765139 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,gnomAD rs151118936 13q13.1 13 32362674 C T L F 2653 2653 missense 0.5445 benign, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359022 13q13.1 13 32362675 T C L P 2653 2653 missense 1.0 probably damaging 0.0 deleterious 0 Breast cancer (BC) A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 ClinVar:RCV000770732 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359022 13q13.1 13 32362675 T G L R 2653 2653 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000465947 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359023 13q13.1 13 32362678 T C L P 2654 2654 missense 0.9315 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113845,pubmed:25394175,ClinVar:RCV000575154 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs397507395 COSM4390264 13q13.1 13 32362680 C T Q * 2655 2655 stop gained -1.0 unknown -1.0 unknown 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031710 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359024 13q13.1 13 32362681 A G Q R 2655 2655 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113846 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037817 13q13.1 13 32362684 T C L P 2656 2656 missense 0.999 probably damaging 0.0 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240747 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037817 13q13.1 13 32362684 T A L Q 2656 2656 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000466411 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs863224312 13q13.1 13 32362688 A C K N 2657 2657 missense 1.0 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs863224312 13q13.1 13 32362688 A C K N 2657 2657 missense 0.779 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286874 13q13.1 13 32362687 A C K T 2657 2657 missense 0.92 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509666 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359025 13q13.1 13 32362691 C A Y * 2658 2658 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256889,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000698665 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359025 13q13.1 13 32362691 C G Y * 2658 2658 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031711 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286875 13q13.1 13 32362690 A G Y C 2658 2658 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000543976 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202719 13q13.1 13 32362689 T C Y H 2658 2658 missense 0.874 possibly damaging, probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529353,pubmed:25394175,ClinVar:RCV000165671 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359026 13q13.1 13 32362692 A G R G 2659 2659 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572654 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359027 13q13.1 13 32362693 G A R K 2659 2659 missense 0.989 probably damaging 0.0 deleterious 0 Ovarian Neoplasms MIM:114480,MIM:612555,MIM:604370 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031713,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045366,pubmed:25394175,ClinVar:RCV000131687,ClinVar:RCV000785230 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359027 13q13.1 13 32362693 G C R T 2659 2659 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113849,pubmed:25394175,ClinVar:RCV000583576 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507949 13q13.1 13 32363182 T A Y * 2660 2660 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661558,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496310 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507949 13q13.1 13 32363182 T G Y * 2660 2660 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000225390,pubmed:25394175,ClinVar:RCV000449211 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286930 COSM696725 13q13.1 13 32363181 A G Y C 2660 2660 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584366 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359029 13q13.1 13 32363180 T G Y D 2660 2660 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1228328393 13q13.1 13 32363183 G A D N 2661 2661 missense 0.8325 possibly damaging, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566245207 13q13.1 13 32363186 A G T A 2662 2662 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825362 13q13.1 13 32363187 C A T K 2662 2662 missense 0.073 benign 0.0 deleterious 0 Breast-ovarian cancer, familial 1 (BROVCA1) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000210092 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825362 13q13.1 13 32363187 C T T M 2662 2662 missense 0.0 benign 0.47 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000163213 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80359030 13q13.1 13 32363189 G T E * 2663 2663 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359030 13q13.1 13 32363189 G T E * 2663 2663 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241097 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359030 13q13.1 13 32363189 G A E K 2663 2663 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077421,pubmed:25394175,ClinVar:RCV000163114 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80359030 13q13.1 13 32363189 G A E K 2663 2663 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359031 13q13.1 13 32363190 A T E V 2663 2663 missense 0.998 probably damaging 0.0 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:176807,MIM:155255,MIM:613347,MIM:194070 ClinVar:RCV000735605,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077422,ClinVar:RCV000763327,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763327,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763327,ClinVar:RCV000763327,pubmed:25394175,ClinVar:RCV000163034,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763327,ClinVar:RCV000763327,ClinVar:RCV000763327,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763327 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80359800 13q13.1 13 32363194 T G I M 2664 2664 2.0E-4 missense 0.87 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80359800 13q13.1 13 32363194 T G I M 2664 2664 missense 0.64 benign, possibly damaging 0.0 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000411343,ClinVar:RCV000765140,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765140,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765140,ClinVar:RCV000765140,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709332,pubmed:25394175,ClinVar:RCV000566432,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765140,ClinVar:RCV000765140,ClinVar:RCV000765140,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765140 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566245227 13q13.1 13 32363192 A G I V 2664 2664 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690966 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897745 13q13.1 13 32363196 A G D G 2665 2665 missense 0.5175 benign, probably damaging 0.015 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129068 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28897745 13q13.1 13 32363196 A G D G 2665 2665 2.0E-4 missense 0.999 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs921017191 13q13.1 13 32363195 G A D N 2665 2665 missense 0.51 benign, probably damaging 0.005 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs921017191 13q13.1 13 32363195 G T D Y 2665 2665 missense 0.586 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000475758,pubmed:25394175,ClinVar:RCV000580611 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359032 13q13.1 13 32363198 A T R * 2666 2666 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113853 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359033 13q13.1 13 32363199 G C R T 2666 2666 missense 0.436 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113854,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045380,pubmed:25394175,ClinVar:RCV000561371 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs276174900 13q13.1 13 32363204 A T R * 2668 2668 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs276174900 13q13.1 13 32363204 A T R * 2668 2668 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:114480,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113855,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000585730,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000503440,pubmed:25394175,ClinVar:RCV000569144 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs276174900 13q13.1 13 32363204 A G R G 2668 2668 missense 0.4815 benign, probably damaging 0.05 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563968 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs276174900 13q13.1 13 32363204 A G R G 2668 2668 missense 0.956 probably damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs777675936 13q13.1 13 32363206 A C R S 2668 2668 missense 0.4725 benign, probably damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs143999963 13q13.1 13 32363209 A T R S 2669 2669 missense 0.999 probably damaging 0.0 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000765141,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765141,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765141,ClinVar:RCV000765141,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637317,pubmed:25394175,ClinVar:RCV000163073,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765141,ClinVar:RCV000765141,ClinVar:RCV000765141,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765141 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359035 13q13.1 13 32363211 C A S * 2670 2670 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239017,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496340,pubmed:25394175,ClinVar:RCV000569299 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs80359035 COSM3417532 13q13.1 13 32363211 C T S L 2670 2670 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs757206472 13q13.1 13 32363210 T C S P 2670 2670 missense 0.568 benign, probably damaging 0.155 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359035 13q13.1 13 32363211 C G S W 2670 2670 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579856 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1350164927 13q13.1 13 32363214 C G A G 2671 2671 missense 0.621 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786201976 13q13.1 13 32363213 G T A S 2671 2671 missense 0.28 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164537 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359037 13q13.1 13 32363216 A C I L 2672 2672 missense 0.015 benign 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359037 13q13.1 13 32363216 A C I L 2672 2672 missense 0.015 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637503,pubmed:25394175,ClinVar:RCV000777100 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881562 13q13.1 13 32363218 A G I M 2672 2672 missense 0.854 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166822 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs201483108 13q13.1 13 32363217 T C I T 2672 2672 2.0E-4 missense 0.763 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359037 13q13.1 13 32363216 A G I V 2672 2672 missense 0.324 benign 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000225751 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286954 13q13.1 13 32363221 A T K N 2673 2673 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637350 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064796358 13q13.1 13 32363220 A G K R 2673 2673 missense 0.5045 benign, probably damaging 0.495 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696481,pubmed:25394175,ClinVar:RCV000775936 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs779086813 13q13.1 13 32363224 G T K N 2674 2674 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566525 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507954 13q13.1 13 32363225 A G I V 2675 2675 missense 0.982 probably damaging 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000258421 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359038 13q13.1 13 32363229 T C M T 2676 2676 missense 0.015 benign 0.3 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853607 13q13.1 13 32363228 A G M V 2676 2676 missense 0.003 benign 0.23 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229129 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286958 13q13.1 13 32363231 G T E * 2677 2677 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582544 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286958 13q13.1 13 32363231 G A E K 2677 2677 missense 0.998 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359039 13q13.1 13 32363234 A G R G 2678 2678 missense 0.382 benign, possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077424,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045394,pubmed:25394175,ClinVar:RCV000572606 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1204728357 13q13.1 13 32363236 G C R S 2678 2678 missense 0.383 benign, possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510093 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359041 13q13.1 13 32363238 A G D G 2679 2679 missense 0.939 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359040 13q13.1 13 32363237 G T D Y 2679 2679 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113858,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709333 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660013 13q13.1 13 32363242 C G D E 2680 2680 missense 0.4985 benign, probably damaging 0.055 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000535538,pubmed:25394175,ClinVar:RCV000218538 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359042 13q13.1 13 32363241 A G D G 2680 2680 missense 0.6225 benign, probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113860 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587782519 13q13.1 13 32363244 C T T I 2681 2681 missense 0.288 benign 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000550571 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587782519 13q13.1 13 32363244 C G T R 2681 2681 missense 0.5165 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239323,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168172,pubmed:25394175,ClinVar:RCV000131690 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs773506092 13q13.1 13 32363247 C T A V 2682 2682 missense 0.3635 benign, possibly damaging 0.005 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510079 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1184535660 13q13.1 13 32363249 G A A T 2683 2683 missense 0.512 benign, probably damaging 0.065 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000703399 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1289414853 13q13.1 13 32363252 A G K E 2684 2684 missense 0.579 benign, probably damaging 0.0 deleterious 0 Infiltrating duct carcinoma of breast pubmed:25394175,ClinVar:RCV000564690,ClinVar:RCV000677840 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359043 13q13.1 13 32363253 A G K R 2684 2684 missense 0.497 benign, probably damaging 0.08 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077426,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045401,pubmed:25394175,ClinVar:RCV000132517 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs761030046 13q13.1 13 32363255 A C T P 2685 2685 missense 0.502 benign, probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637568 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286970 13q13.1 13 32363256 C G T R 2685 2685 missense 0.512 benign, probably damaging 0.17 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581431 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs761030046 13q13.1 13 32363255 A T T S 2685 2685 missense 0.501 benign, probably damaging 0.09 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507960 13q13.1 13 32363258 C T L F 2686 2686 missense 1.0 probably damaging 0.0 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577057 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs28897746 13q13.1 13 32363259 T C L P 2686 2686 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568548 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507960 13q13.1 13 32363258 C G L V 2686 2686 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471484 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs397507960 13q13.1 13 32363258 C G L V 2686 2686 missense 0.5575 benign, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs374625452 13q13.1 13 32363262 T C V A 2687 2687 missense 0.945 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213166 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359044 13q13.1 13 32363261 G T V F 2687 2687 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113863,pubmed:25394175,ClinVar:RCV000571107 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359044 13q13.1 13 32363261 G A V I 2687 2687 missense 0.4975 benign, probably damaging 0.2 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000539299 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359045 13q13.1 13 32363265 T C L P 2688 2688 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359046 13q13.1 13 32363269 T A C * 2689 2689 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113864,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000416520,pubmed:25394175,ClinVar:RCV000571445 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566245389 13q13.1 13 32363268 G A C Y 2689 2689 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772616 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587776471 13q13.1 13 32363270 G A V I 2690 2690 missense 0.383 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144192,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000554038,pubmed:25394175,ClinVar:RCV000565764 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359047 13q13.1 13 32363274 C T S F 2691 2691 missense 0.993 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113867,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045414 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs398122595 13q13.1 13 32363280 T A I K 2693 2693 missense 0.665 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566245426 13q13.1 13 32363281 A G I M 2693 2693 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776939 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs398122595 13q13.1 13 32363280 T C I T 2693 2693 missense 0.419 benign, possibly damaging 0.015 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502493 13q13.1 13 32363279 A G I V 2693 2693 missense 0.003 benign 0.12 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457485 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs760139297 13q13.1 13 32363283 T C I T 2694 2694 missense 0.4155 benign, possibly damaging 0.04 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,dbSNP,gnomAD rs80359048 13q13.1 13 32363286 C G S * 2695 2695 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113868 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,gnomAD rs80359048 13q13.1 13 32363286 C G S * 2695 2695 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,gnomAD rs80359048 13q13.1 13 32363286 C T S L 2695 2695 missense 0.998 probably damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,NCI-TCGA,dbSNP,gnomAD rs80359048 COSM5607974 13q13.1 13 32363286 C T S L 2695 2695 missense 0.5715 benign, probably damaging 0.035 deleterious 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000735608 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359050 13q13.1 13 32363289 T A L * 2696 2696 stop gained 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:114480 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113870,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000585696 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359050 13q13.1 13 32363289 T G L W 2696 2696 missense 0.966 probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000172807,pubmed:25394175,ClinVar:RCV000218050 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359051 13q13.1 13 32363292 G A S N 2697 2697 missense 0.001 benign 0.67 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083143 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs140782158 13q13.1 13 32363293 C A S R 2697 2697 missense 0.491 benign, possibly damaging 0.055 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs140782158 13q13.1 13 32363293 C A S R 2697 2697 missense 0.804 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80359052 13q13.1 13 32363294 G A A T 2698 2698 0.0 missense 0.005 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80359052 13q13.1 13 32363294 G A A T 2698 2698 missense 0.005 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031720,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531554 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1057520460 13q13.1 13 32363299 T G N K 2699 2699 missense 0.2835 benign, possibly damaging 0.25 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1057520460 13q13.1 13 32363299 T G N K 2699 2699 missense 0.541 possibly damaging 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000541995 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1330144220 13q13.1 13 32363298 A G N S 2699 2699 missense 0.068 benign 0.35 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359053 13q13.1 13 32363300 A C I L 2700 2700 missense 0.216 benign 0.37 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077427,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195382,pubmed:25394175,ClinVar:RCV000130878 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555286995 13q13.1 13 32363302 A G I M 2700 2700 missense 0.477 benign, possibly damaging 0.265 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575820 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782365 13q13.1 13 32363301 T C I T 2700 2700 missense 0.015 benign 0.34 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131327 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359053 13q13.1 13 32363300 A G I V 2700 2700 missense 0.003 benign 0.95 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637425,pubmed:25394175,ClinVar:RCV000773103 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660229 13q13.1 13 32363304 C G S C 2701 2701 missense 0.066 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462721,pubmed:25394175,ClinVar:RCV000221838 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782781 13q13.1 13 32363303 T C S P 2701 2701 missense 0.045 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695361,pubmed:25394175,ClinVar:RCV000132321 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP,gnomAD rs186224762 13q13.1 13 32363306 G A E K 2702 2702 missense 0.518 benign, probably damaging 0.185 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000802730,pubmed:25394175,ClinVar:RCV000582650 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP,gnomAD rs186224762 13q13.1 13 32363306 G C E Q 2702 2702 missense 0.578 benign, probably damaging 0.1 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572694 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80359054 COSM3468412 13q13.1 13 32363313 C T S F 2704 2704 missense 0.093 benign 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045424 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359054 13q13.1 13 32363313 C T S F 2704 2704 missense 0.033 benign 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs781087576 13q13.1 13 32363312 T C S P 2704 2704 missense 0.472 benign, possibly damaging 0.08 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs756105620 13q13.1 13 32363315 A G S G 2705 2705 missense 0.01 benign 0.28 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000530767 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs778806241 13q13.1 13 32363316 G T S I 2705 2705 missense 0.4705 benign, probably damaging 0.09 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs778806241 13q13.1 13 32363316 G A S N 2705 2705 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776697 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781889 13q13.1 13 32363317 C G S R 2705 2705 missense 0.43 benign, possibly damaging 0.065 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000411253,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000796695,pubmed:25394175,ClinVar:RCV000130221 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1196515495 13q13.1 13 32363318 A G N D 2706 2706 missense 0.014 benign 0.26 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80359055 13q13.1 13 32363319 A G N S 2706 2706 7.99E-4 missense 0.023 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80359055 13q13.1 13 32363319 A G N S 2706 2706 7.999999797903001E-4 missense 0.023 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164845 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1196515495 13q13.1 13 32363318 A T N Y 2706 2706 missense 0.688 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1046479731 13q13.1 13 32363321 A G K E 2707 2707 missense 0.413 benign, possibly damaging 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000811876,pubmed:25394175,ClinVar:RCV000570943 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566245492 13q13.1 13 32363325 C T T I 2708 2708 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776984 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122596 13q13.1 13 32363327 A G S G 2709 2709 missense 0.059 benign 0.09 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000768638,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077018,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198708,pubmed:25394175,ClinVar:RCV000569993 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122597 13q13.1 13 32363330 A G S G 2710 2710 missense 0.003 benign 0.58 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077019,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474416,pubmed:25394175,ClinVar:RCV000219126 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502439 COSM946868 13q13.1 13 32363333 G A A T 2711 2711 missense 0.157 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000470202,pubmed:25394175,ClinVar:RCV000776389 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80359057 13q13.1 13 32363337 A C D A 2712 2712 missense 0.465 benign, possibly damaging 0.155 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637632 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80359056 13q13.1 13 32363336 G A D N 2712 2712 missense 0.078 benign 0.21 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083144 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80359057 13q13.1 13 32363337 A T D V 2712 2712 missense 0.611 benign, probably damaging 0.05 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077428,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045428,pubmed:25394175,ClinVar:RCV000130071 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359058 13q13.1 13 32363342 C T Q * 2714 2714 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113875 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359058 13q13.1 13 32363342 C G Q E 2714 2714 missense 0.007 benign 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359059 13q13.1 13 32363343 A G Q R 2714 2714 missense 0.117 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113876,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045430,pubmed:25394175,ClinVar:RCV000129843 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224469 13q13.1 13 32363345 A T K * 2715 2715 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238968,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000199997,pubmed:25394175,ClinVar:RCV000221489 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs771265005 13q13.1 13 32363346 A G K R 2715 2715 missense 0.228 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs777094216 13q13.1 13 32363348 G T V L 2716 2716 missense 0.219 benign 0.31 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28897747 13q13.1 13 32363351 G T A S 2717 2717 5.99E-4 missense 0.044 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897747 13q13.1 13 32363351 G T A S 2717 2717 missense 0.057 benign 0.14 tolerated 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:227650 ClinVar:RCV000735609,pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000280295 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28897747 13q13.1 13 32363351 G A A T 2717 2717 5.99E-4 missense 0.542 possibly damaging 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659220 COSM4666059 13q13.1 13 32363352 C T A V 2717 2717 missense 0.3745 benign, possibly damaging 0.025 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000818965,pubmed:25394175,ClinVar:RCV000218823 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359060 13q13.1 13 32363355 T C I T 2718 2718 missense 0.007 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031722,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045432,pubmed:25394175,ClinVar:RCV000583191 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881563 13q13.1 13 32363359 T G I M 2719 2719 missense 0.9145 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213185 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs28897748 13q13.1 13 32363358 T C I T 2719 2719 missense 0.985 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287016 13q13.1 13 32363360 G A E K 2720 2720 missense 0.91 possibly damaging, probably damaging 0.015 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567835 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359061 13q13.1 13 32363364 T A L H 2721 2721 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113878,pubmed:25394175,ClinVar:RCV000223648 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359061 13q13.1 13 32363364 T G L R 2721 2721 missense 1.0 probably damaging 0.0 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577314 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287019 13q13.1 13 32363366 A G T A 2722 2722 missense 0.8945 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561836 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359062 13q13.1 13 32363367 C T T I 2722 2722 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:23188549,ClinVar:RCV000656473,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000818447 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359062 13q13.1 13 32363367 C A T K 2722 2722 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219871 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359062 13q13.1 13 32363367 C G T R 2722 2722 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:612555 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031723 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs41293513 13q13.1 13 32363370 A C D A 2723 2723 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045437 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs41293513 13q13.1 13 32363370 A C D A 2723 2723 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502432 13q13.1 13 32363371 T A D E 2723 2723 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568974 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1060502432 13q13.1 13 32363371 T A D E 2723 2723 missense 0.997 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs41293513 13q13.1 13 32363370 A G D G 2723 2723 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs41293513 13q13.1 13 32363370 A G D G 2723 2723 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031724,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000781040,pubmed:25394175,ClinVar:RCV000131682 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs41293511 13q13.1 13 32363369 G C D H 2723 2723 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs41293511 13q13.1 13 32363369 G C D H 2723 2723 missense 1.0 probably damaging 0.0 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077429,ClinVar:RCV000763328,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000763328,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763328,ClinVar:RCV000763328,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045436,pubmed:25394175,ClinVar:RCV000131674,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763328,ClinVar:RCV000763328,ClinVar:RCV000763328,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763328 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs41293511 13q13.1 13 32363369 G A D N 2723 2723 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs41293511 13q13.1 13 32363369 G A D N 2723 2723 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570332 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs41293513 13q13.1 13 32363370 A T D V 2723 2723 missense 1.0 probably damaging 0.0 deleterious 0 Genetic non-acquired premature ovarian failure ClinVar:RCV000770915 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359063 13q13.1 13 32363373 G A G E 2724 2724 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776718 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359063 13q13.1 13 32363373 G T G V 2724 2724 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113881,pubmed:25394175,ClinVar:RCV000560980 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057521184 13q13.1 13 32363372 G T G W 2724 2724 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881581 13q13.1 13 32363376 G A W * 2725 2725 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241299,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460183 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507965 13q13.1 13 32363377 G A W * 2725 2725 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661848 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs761595544 13q13.1 13 32363380 T A Y * 2726 2726 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs761595544 13q13.1 13 32363380 T A Y * 2726 2726 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241134,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496742 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP rs80359064 13q13.1 13 32363379 A G Y C 2726 2726 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,NCI-TCGA,dbSNP rs80359064 COSM4938972 13q13.1 13 32363379 A G Y C 2726 2726 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077430,pubmed:25394175,ClinVar:RCV000130671 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255468 13q13.1 13 32363382 C G A G 2727 2727 missense 0.4975 benign, probably damaging 0.355 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238976,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469799,pubmed:25394175,ClinVar:RCV000565073 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881582 13q13.1 13 32363381 G T A S 2727 2727 missense 0.499 benign, probably damaging 0.45 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000232095 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587781719 13q13.1 13 32363385 T C V A 2728 2728 missense 0.477 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663059,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000463515,pubmed:25394175,ClinVar:RCV000129903 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28897749 13q13.1 13 32363384 G A V I 2728 2728 5.99E-4 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897749 13q13.1 13 32363384 G A V I 2728 2728 missense 0.011 benign 0.78 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:612555 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113882 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs28897749 13q13.1 13 32363384 G C V L 2728 2728 5.99E-4 missense 0.073 benign 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897749 13q13.1 13 32363384 G C V L 2728 2728 missense 0.073 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573475 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80359065 13q13.1 13 32363389 G T K N 2729 2729 0.002596 missense 0.477 benign, probably damaging 0.03 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80359065 13q13.1 13 32363389 G T K N 2729 2729 missense 0.477 benign, probably damaging 0.03 deleterious, tolerated 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:114480,MIM:227650 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000286060 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80359065 13q13.1 13 32363389 G T K N 2729 2729 0.002596 missense 0.953 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs755946384 13q13.1 13 32363388 A G K R 2729 2729 missense 0.092 benign 0.53 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000821049,pubmed:25394175,ClinVar:RCV000773104 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,gnomAD rs80359066 13q13.1 13 32363390 G C A P 2730 2730 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs80359066 13q13.1 13 32363390 G C A P 2730 2730 missense 0.9255 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131217 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359067 13q13.1 13 32363391 C T A V 2730 2730 missense 0.5395 benign, probably damaging 0.03 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113887,pubmed:25394175,ClinVar:RCV000584608 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs397507966 13q13.1 13 32363393 C T Q * 2731 2731 stop gained -1.0 unknown -1.0 unknown 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577609 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507966 13q13.1 13 32363393 C G Q E 2731 2731 missense 0.178 benign 0.11 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000225930 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs753837544 13q13.1 13 32363394 A G Q R 2731 2731 missense 0.269 benign 0.38 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213899 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507967 13q13.1 13 32363397 T A L * 2732 2732 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257040 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507967 13q13.1 13 32363397 T G L * 2732 2732 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257547,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000412877 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060504634 13q13.1 13 32363396 T G L V 2732 2732 missense 0.009 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510080 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1325419593 13q13.1 13 32363399 G A D N 2733 2733 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658732 13q13.1 13 32363403 C T P L 2734 2734 missense 0.435 benign, possibly damaging 0.075 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558611,pubmed:25394175,ClinVar:RCV000223518 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881564 13q13.1 13 32363406 C G P R 2735 2735 missense 0.583 benign, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1247198934 13q13.1 13 32363405 C A P T 2735 2735 missense 0.559 benign, probably damaging 0.005 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287042 13q13.1 13 32363408 C T L F 2736 2736 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510051 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566245715 13q13.1 13 32363412 T A L * 2737 2737 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695375 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287046 13q13.1 13 32363415 C G A G 2738 2738 missense 0.337 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579967 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658755 13q13.1 13 32363414 G A A T 2738 2738 missense 0.022 benign 0.055 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215964 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359069 13q13.1 13 32363417 G T V F 2739 2739 missense 0.0 benign 0.29 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000699496,pubmed:25394175,ClinVar:RCV000221702 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359069 13q13.1 13 32363417 G T V F 2739 2739 missense 0.001 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359069 13q13.1 13 32363417 G A V I 2739 2739 missense 0.0 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129733 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359069 13q13.1 13 32363417 G C V L 2739 2739 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222709 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359069 13q13.1 13 32363417 G C V L 2739 2739 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359070 13q13.1 13 32363421 T A L * 2740 2740 stop gained 0 Fanconi anemia, complementation group D1 (FANCD1) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:612555,MIM:605724 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113889,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000009934 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793069 13q13.1 13 32363420 T G L V 2740 2740 missense 0.084 benign 0.34 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502428 13q13.1 13 32363424 A G K R 2741 2741 missense 0.4965 benign, probably damaging 0.25 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474199 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782763 13q13.1 13 32363427 A G N S 2742 2742 missense 0.0 benign 0.85 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460675,pubmed:25394175,ClinVar:RCV000132287 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507397 13q13.1 13 32363429 G C G R 2743 2743 missense 0.5325 benign, probably damaging 0.14 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565433 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287055 13q13.1 13 32363432 A G R G 2744 2744 missense 0.549 benign, possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000536936,pubmed:25394175,ClinVar:RCV000509860 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287056 13q13.1 13 32363433 G T R I 2744 2744 missense 0.4525 benign, possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574544 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786201752 13q13.1 13 32363435 C G L V 2745 2745 missense 0.5115 benign, probably damaging 0.055 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164205 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507398 13q13.1 13 32363441 G A V I 2747 2747 missense 0.0385 benign 0.115 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031728,pubmed:25394175,ClinVar:RCV000574414 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359071 13q13.1 13 32363445 G A G D 2748 2748 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:612555 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113895 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs56371528 13q13.1 13 32363444 G C G R 2748 2748 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs56371528 13q13.1 13 32363444 G A G S 2748 2748 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459448,pubmed:25394175,ClinVar:RCV000582320 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401925 13q13.1 13 32363447 C T Q * 2749 2749 stop gained -1.0 unknown -1.0 unknown 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661758,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496216 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401925 13q13.1 13 32363447 C G Q E 2749 2749 missense 0.5645 benign, probably damaging 0.09 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572570 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs757501907 13q13.1 13 32363455 T G I M 2751 2751 missense 0.602 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000228771,pubmed:25394175,ClinVar:RCV000569622 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs757501907 13q13.1 13 32363455 T G I M 2751 2751 missense 0.978 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287065 13q13.1 13 32363454 T G I S 2751 2751 missense 0.8995 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575791 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359072 13q13.1 13 32363456 A T I F 2752 2752 missense 0.48 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113898,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045463,pubmed:25394175,ClinVar:RCV000130435 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203357 13q13.1 13 32363460 T C L P 2753 2753 missense 0.405 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166632 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587776472 13q13.1 13 32363464 T G H Q 2754 2754 missense 0.499 benign, probably damaging 0.115 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144193,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637765,pubmed:25394175,ClinVar:RCV000575580 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287066 13q13.1 13 32363463 A G H R 2754 2754 missense 0.5375 benign, probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000525702 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658830 13q13.1 13 32363466 G T G V 2755 2755 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000811369,pubmed:25394175,ClinVar:RCV000218565 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287069 13q13.1 13 32363469 C G A G 2756 2756 missense 0.73 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571440 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1157308308 13q13.1 13 32363468 G A A T 2756 2756 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1320594065 13q13.1 13 32363477 G T V L 2759 2759 missense 0.0 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564970 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1320594065 13q13.1 13 32363477 G C V L 2759 2759 missense 0.007 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825363 13q13.1 13 32363484 C G S C 2761 2761 missense 0.5 benign, probably damaging 0.15 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082986,pubmed:25394175,ClinVar:RCV000222731 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs431825363 13q13.1 13 32363484 C T S F 2761 2761 missense 0.512 benign, probably damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122600 13q13.1 13 32363487 C T P L 2762 2762 missense 0.471 benign, probably damaging 0.065 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077022,pubmed:25394175,ClinVar:RCV000129761 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122600 13q13.1 13 32363487 C G P R 2762 2762 missense 0.4925 benign, probably damaging 0.105 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509733 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1302254513 13q13.1 13 32363486 C T P S 2762 2762 missense 0.13 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510124 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566245842 13q13.1 13 32363490 A C D A 2763 2763 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689205 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566245847 13q13.1 13 32363491 T G D E 2763 2763 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777539 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202189 13q13.1 13 32363492 G A A T 2764 2764 missense 0.546 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164889 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287074 13q13.1 13 32363493 C T A V 2764 2764 missense 0.719 benign, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040756 13q13.1 13 32363497 T A C * 2765 2765 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257801 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs768247528 13q13.1 13 32363495 T G C G 2765 2765 missense 0.6055 benign, probably damaging 0.005 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239098,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000226067,pubmed:25394175,ClinVar:RCV000165936 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs768247528 13q13.1 13 32363495 T C C R 2765 2765 missense 0.705 benign, probably damaging 0.025 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000524906 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs774027004 13q13.1 13 32363498 A G T A 2766 2766 missense 0.0 benign 0.24 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287077 13q13.1 13 32363499 C T T I 2766 2766 missense 0.443 benign, possibly damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637413 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs774027004 13q13.1 13 32363498 A T T S 2766 2766 missense 0.0 benign 0.7 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs397507401 13q13.1 13 32363502 C T P L 2767 2767 missense 0.992 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507401 13q13.1 13 32363502 C G P R 2767 2767 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031733 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782619 13q13.1 13 32363501 C T P S 2767 2767 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132002 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587782732 13q13.1 13 32363505 T A L H 2768 2768 missense 0.761 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000539628,pubmed:25394175,ClinVar:RCV000132229 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1351192625 13q13.1 13 32363509 A C E D 2769 2769 missense 0.492 benign, probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1064794185 13q13.1 13 32363507 G C E Q 2769 2769 missense 0.672 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563964 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs28897750 13q13.1 13 32363511 C A A D 2770 2770 missense 0.5345 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031734,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637597,pubmed:25394175,ClinVar:RCV000130809 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507974 13q13.1 13 32363510 G A A T 2770 2770 missense 0.5135 benign, probably damaging 0.06 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219587 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs28897750 13q13.1 13 32363511 C T A V 2770 2770 missense 0.5005 benign, probably damaging 0.09 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637675 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502415 13q13.1 13 32363514 C T P L 2771 2771 missense 0.536 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000475922,pubmed:25394175,ClinVar:RCV000573013 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507975 13q13.1 13 32363516 G T E * 2772 2772 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241200,pubmed:25394175,ClinVar:RCV000166747 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507975 13q13.1 13 32363516 G A E K 2772 2772 missense 0.001 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130828 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287082 13q13.1 13 32363517 A T E V 2772 2772 missense 0.374 benign, possibly damaging 0.015 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566974 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287085 13q13.1 13 32363520 C G S C 2773 2773 missense 0.51 benign, probably damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000554652 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,dbSNP rs143761565 13q13.1 13 32363519 T C S P 2773 2773 missense 0.663 benign, probably damaging 0.005 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164532 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203278 13q13.1 13 32363523 T G L R 2774 2774 missense 0.7005 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000553827,pubmed:25394175,ClinVar:RCV000166512 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80359073 13q13.1 13 32363526 T A M K 2775 2775 missense 0.571 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359073 13q13.1 13 32363526 T A M K 2775 2775 missense 0.287 benign, possibly damaging 0.055 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000409541,pubmed:25394175,ClinVar:RCV000222038 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs767209209 13q13.1 13 32363525 A C M L 2775 2775 missense 0.0 benign 0.11 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637418 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80359073 13q13.1 13 32363526 T G M R 2775 2775 missense 0.754 possibly damaging 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359073 13q13.1 13 32363526 T G M R 2775 2775 missense 0.377 benign, possibly damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129803 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359073 13q13.1 13 32363526 T C M T 2775 2775 missense 0.034 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113902,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045473,pubmed:25394175,ClinVar:RCV000130178 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs767209209 13q13.1 13 32363525 A G M V 2775 2775 missense 0.311 benign 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241308,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000532115 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507977 13q13.1 13 32363529 T G L * 2776 2776 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257530 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660201 13q13.1 13 32363528 T A L I 2776 2776 missense 0.97 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215335 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037818 13q13.1 13 32363531 A T K * 2777 2777 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256643 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037818 13q13.1 13 32363531 A G K E 2777 2777 missense 0.67 benign, probably damaging 0.0 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688234,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240782 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287606 13q13.1 13 32370409 C A A D 2780 2780 missense 0.987 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567950 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1434821822 13q13.1 13 32370412 A T N I 2781 2781 missense 0.999 probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637364,pubmed:25394175,ClinVar:RCV000772450 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs749770064 13q13.1 13 32370415 G A S N 2782 2782 missense 0.547 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566248645 13q13.1 13 32370416 T G S R 2782 2782 missense 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000769703 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502463 13q13.1 13 32370417 A G T A 2783 2783 missense 0.8125 possibly damaging, probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469561,pubmed:25394175,ClinVar:RCV000775818 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287610 13q13.1 13 32370418 C A T N 2783 2783 missense 0.98 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579567 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359076 13q13.1 13 32370421 G T R L 2784 2784 missense 0.959 probably damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582573 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359076 13q13.1 13 32370421 G A R Q 2784 2784 missense 0.987 probably damaging 0.0 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555 ClinVar:RCV000769704,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077435,pubmed:25394175,ClinVar:RCV000129468,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000148441 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359075 13q13.1 13 32370420 C T R W 2784 2784 missense 0.997 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359075 13q13.1 13 32370420 C T R W 2784 2784 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202034 13q13.1 13 32370424 C T P L 2785 2785 missense 0.517 benign, probably damaging 0.085 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000412223,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000821790,pubmed:25394175,ClinVar:RCV000164641 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202287 13q13.1 13 32370423 C A P T 2785 2785 missense 0.5445 benign, probably damaging 0.28 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165022 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359077 13q13.1 13 32370426 G C A P 2786 2786 missense 0.855 possibly damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113911 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359077 13q13.1 13 32370426 G C A P 2786 2786 missense 0.922 possibly damaging, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359077 13q13.1 13 32370426 G A A T 2786 2786 missense 0.039 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs41293517 13q13.1 13 32370429 C T R C 2787 2787 missense 0.001 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045491,pubmed:25394175,ClinVar:RCV000130122 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359078 13q13.1 13 32370430 G A R H 2787 2787 missense 0.3345 benign, possibly damaging 0.045 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359078 13q13.1 13 32370430 G A R H 2787 2787 missense 0.61 possibly damaging 0.07 tolerated 0 Hereditary cancer-predisposing syndrome MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:25394175,ClinVar:RCV000214554 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507981 13q13.1 13 32370434 G A W * 2788 2788 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241319,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496647,pubmed:25394175,ClinVar:RCV000216791 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP rs80359080 13q13.1 13 32370433 G A W * 2788 2788 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000162060 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC rs80359080 13q13.1 13 32370433 G A W * 2788 2788 2.0E-4 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507981 13q13.1 13 32370434 G C W C 2788 2788 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80359079 13q13.1 13 32370432 T G W G 2788 2788 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC rs80359080 13q13.1 13 32370433 G T W L 2788 2788 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC rs80359080 13q13.1 13 32370433 G T W L 2788 2788 2.0E-4 missense 1.0 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359079 13q13.1 13 32370432 T C W R 2788 2788 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113915,pubmed:25394175,ClinVar:RCV000219719 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP rs80359080 13q13.1 13 32370433 G C W S 2788 2788 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113916 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC rs80359080 13q13.1 13 32370433 G C W S 2788 2788 2.0E-4 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122603 13q13.1 13 32370436 A G Y C 2789 2789 missense 0.052 benign 0.085 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077025,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206251,pubmed:25394175,ClinVar:RCV000214265 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122603 13q13.1 13 32370436 A T Y F 2789 2789 missense 0.3405 benign, possibly damaging 0.185 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567915 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853609 13q13.1 13 32370435 T C Y H 2789 2789 missense 0.4365 benign, possibly damaging 0.405 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000232896 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359081 13q13.1 13 32370438 A T T S 2790 2790 missense 0.402 benign, possibly damaging 0.215 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083146,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045497,pubmed:25394175,ClinVar:RCV000165808 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122604 13q13.1 13 32370444 C T L F 2792 2792 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077026,pubmed:25394175,ClinVar:RCV000570209 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs28897751 13q13.1 13 32370445 T C L P 2792 2792 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:612555 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113921 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs28897751 13q13.1 13 32370445 T G L R 2792 2792 missense 1.0 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561173 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359082 13q13.1 13 32370447 G T G * 2793 2793 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241165 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80359082 13q13.1 13 32370447 G T G * 2793 2793 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359083 13q13.1 13 32370448 G A G E 2793 2793 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165807 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359082 13q13.1 13 32370447 G A G R 2793 2793 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:25394175,ClinVar:RCV000131353 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80359082 13q13.1 13 32370447 G A G R 2793 2793 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359083 13q13.1 13 32370448 G T G V 2793 2793 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031741,pubmed:25394175,ClinVar:RCV000569751 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566248770 13q13.1 13 32370450 T A F I 2794 2794 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP rs80359084 13q13.1 13 32370452 C G F L 2794 2794 missense 0.331 benign, possibly damaging 0.025 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113922,pubmed:25394175,ClinVar:RCV000130127 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287622 13q13.1 13 32370454 T G F C 2795 2795 missense 0.498 benign, probably damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510109 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs761952204 13q13.1 13 32370453 T A F I 2795 2795 missense 0.3535 benign, possibly damaging 0.245 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs761952204 13q13.1 13 32370453 T G F V 2795 2795 missense 0.447 benign, possibly damaging 0.31 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs146120136 13q13.1 13 32370456 C T P S 2796 2796 missense 0.892 possibly damaging 0.33 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs146120136 13q13.1 13 32370456 C T P S 2796 2796 missense 0.4495 benign, possibly damaging 0.535 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566248791 13q13.1 13 32370459 G T D Y 2797 2797 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773338 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs750640009 13q13.1 13 32370462 C G P A 2798 2798 missense 0.535 benign, probably damaging 0.005 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579752 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174906 13q13.1 13 32370463 C T P L 2798 2798 missense 0.8015 possibly damaging, probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113923 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174906 13q13.1 13 32370463 C G P R 2798 2798 missense 0.6915 benign, probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs750640009 13q13.1 13 32370462 C T P S 2798 2798 missense 0.5985 benign, probably damaging 0.1 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509718 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040771 13q13.1 13 32370465 A T R * 2799 2799 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257744 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507982 13q13.1 13 32370466 G C R T 2799 2799 missense 0.584 benign, probably damaging 0.02 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577796 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs80359087 13q13.1 13 32370469 C G P R 2800 2800 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113927 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359086 13q13.1 13 32370468 C T P S 2800 2800 missense 0.8935 possibly damaging, probably damaging 0.005 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113926,pubmed:25394175,ClinVar:RCV000773274 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359086 13q13.1 13 32370468 C A P T 2800 2800 missense 0.9505 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000556503 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659273 13q13.1 13 32370474 C G P A 2802 2802 missense 0.497 benign, probably damaging 0.04 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221655 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs756318845 13q13.1 13 32370480 C G P A 2804 2804 missense 0.026 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658705 13q13.1 13 32370481 C A P H 2804 2804 missense 0.466 benign, possibly damaging 0.015 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222931 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658705 13q13.1 13 32370481 C T P L 2804 2804 missense 0.094 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000464375,pubmed:25394175,ClinVar:RCV000775812 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507983 13q13.1 13 32370484 T C L S 2805 2805 missense 1.0 probably damaging 0.0 deleterious 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000576922 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782785 13q13.1 13 32370487 C T S L 2806 2806 missense 0.92 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469575 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs587782785 13q13.1 13 32370487 C T S L 2806 2806 missense 0.531 benign, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs55763607 13q13.1 13 32370490 C A S * 2807 2807 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241130,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000196106,pubmed:25394175,ClinVar:RCV000569423 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs55763607 13q13.1 13 32370490 C T S L 2807 2807 missense 0.948 possibly damaging, probably damaging 0.025 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083147,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045513,pubmed:25394175,ClinVar:RCV000130247 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs55763607 13q13.1 13 32370490 C T S L 2807 2807 missense 0.999 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287637 13q13.1 13 32370489 T C S P 2807 2807 missense 0.872 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509655 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587783044 13q13.1 13 32370493 T C L P 2808 2808 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144586 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203867 13q13.1 13 32370492 C G L V 2808 2808 missense 0.618 benign, probably damaging 0.09 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000801748,pubmed:25394175,ClinVar:RCV000167360 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP rs80359089 13q13.1 13 32370498 A G S G 2810 2810 missense 0.492 benign, probably damaging 0.09 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129757 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP rs80359089 13q13.1 13 32370498 A C S R 2810 2810 missense 0.527 benign, probably damaging 0.015 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113929 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876658487 13q13.1 13 32370500 T G S R 2810 2810 missense 0.527 benign, probably damaging 0.015 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214305 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359090 13q13.1 13 32370502 A G D G 2811 2811 missense 0.999 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359090 13q13.1 13 32370502 A G D G 2811 2811 missense 0.01 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000771458 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566248867 13q13.1 13 32370501 G C D H 2811 2811 missense 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000769705 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80359091 13q13.1 13 32370505 G A G E 2812 2812 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131431 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287645 13q13.1 13 32370504 G A G R 2812 2812 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637478 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359092 13q13.1 13 32370508 G A G E 2813 2813 missense 1.0 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113933,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045520,pubmed:25394175,ClinVar:RCV000567212 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876660312 13q13.1 13 32370510 A G N D 2814 2814 missense 0.1725 benign 0.27 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213395 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876660312 13q13.1 13 32370510 A C N H 2814 2814 missense 0.432 benign, possibly damaging 0.335 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637589 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359093 13q13.1 13 32370513 G A V I 2815 2815 missense 0.502 benign, probably damaging 0.165 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113934,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045521 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs56096120 13q13.1 13 32370517 G C G A 2816 2816 missense 0.567 benign, probably damaging 0.06 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238816,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000210908 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs56096120 13q13.1 13 32370517 G A G D 2816 2816 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000409132,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637368,pubmed:25394175,ClinVar:RCV000164294 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287651 13q13.1 13 32370516 G A G S 2816 2816 missense 0.7045 benign, probably damaging 0.06 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582398 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507987 13q13.1 13 32370521 T A C * 2817 2817 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256626 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs786201992 13q13.1 13 32370520 G T C F 2817 2817 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229582,pubmed:25394175,ClinVar:RCV000164566 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359094 13q13.1 13 32370522 G T V F 2818 2818 missense 0.746 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566230 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359094 13q13.1 13 32370522 G A V I 2818 2818 missense 0.089 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113935,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045523,pubmed:25394175,ClinVar:RCV000166574 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1479448614 13q13.1 13 32370525 G C D H 2819 2819 missense 0.8975 possibly damaging, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1479448614 13q13.1 13 32370525 G A D N 2819 2819 missense 0.5955 benign, probably damaging 0.015 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695527 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287655 13q13.1 13 32370526 A T D V 2819 2819 missense 0.8695 possibly damaging, probably damaging 0.005 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567807 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs746634772 13q13.1 13 32370529 T C V A 2820 2820 missense 0.464 benign, possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359095 13q13.1 13 32370528 G T V L 2820 2820 missense 0.07 benign 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113936 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359096 13q13.1 13 32370532 T C I T 2821 2821 missense 0.366 benign, possibly damaging 0.06 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113938,pubmed:25394175,ClinVar:RCV000575289 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507403 13q13.1 13 32370534 A T I F 2822 2822 missense 0.864 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031743,pubmed:25394175,ClinVar:RCV000222998 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566248924 COSM696721 13q13.1 13 32370535 T C I T 2822 2822 missense 0.853 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777366 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660101 13q13.1 13 32370538 A G Q R 2823 2823 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000458714,pubmed:25394175,ClinVar:RCV000221719 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040778 13q13.1 13 32370540 A T R * 2824 2824 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496945 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825366 13q13.1 13 32370541 G C R T 2824 2824 missense 0.999 probably damaging 0.0 deleterious 0 Colorectal cancer MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082989,ClinVar:RCV000771023 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782874 13q13.1 13 32370543 G T A S 2825 2825 missense 0.095 benign 0.16 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132501 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782874 13q13.1 13 32370543 G A A T 2825 2825 missense 0.007 benign 0.32 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776583 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs776353983 13q13.1 13 32370548 C A Y * 2826 2826 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000240987,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000500891 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs776353983 13q13.1 13 32370548 C G Y * 2826 2826 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257109 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287666 13q13.1 13 32370547 A G Y C 2826 2826 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567139 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287666 13q13.1 13 32370547 A T Y F 2826 2826 missense 0.9215 possibly damaging, probably damaging 0.01 deleterious 0 Breast cancer, susceptibility to Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:23188549,ClinVar:RCV000656472 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202484 13q13.1 13 32370549 C G P A 2827 2827 missense 0.994 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457355,pubmed:25394175,ClinVar:RCV000219415 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202484 13q13.1 13 32370549 C T P S 2827 2827 missense 0.999 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165319 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs950154005 13q13.1 13 32370554 A G I M 2828 2828 missense 0.028 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000771542 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359098 13q13.1 13 32370552 A G I V 2828 2828 missense 0.01 benign 0.35 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113940,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045530,pubmed:25394175,ClinVar:RCV000129626 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359099 13q13.1 13 32370555 C T Q * 2829 2829 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113942 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359099 13q13.1 13 32370555 C A Q K 2829 2829 missense 0.617 benign, probably damaging 0.115 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579673 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359100 13q13.1 13 32370556 A T Q L 2829 2829 missense 0.995 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113943 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359100 13q13.1 13 32370556 A G Q R 2829 2829 missense 0.087 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510027 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359101 13q13.1 13 32370957 G A W * 2830 2830 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077442,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000222775,pubmed:25394175,ClinVar:RCV000569959 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587776351 13q13.1 13 32370958 G A W * 2830 2830 stop gained 1 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:114480 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257621,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000143787 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1384628074 13q13.1 13 32370960 T C M T 2831 2831 missense 0.392 benign, possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs760663398 13q13.1 13 32370959 A G M V 2831 2831 missense 0.042 benign 0.68 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000527288 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658951 13q13.1 13 32370962 G T E * 2832 2832 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564565 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs766623248 13q13.1 13 32370963 A G E G 2832 2832 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658951 13q13.1 13 32370962 G C E Q 2832 2832 missense 0.99 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214685 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287732 13q13.1 13 32370965 A T K * 2833 2833 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661553,pubmed:25394175,ClinVar:RCV000510031 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs558819788 13q13.1 13 32370967 G C K N 2833 2833 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218341 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037819 13q13.1 13 32370968 A G T A 2834 2834 missense 0.4915 benign, probably damaging 0.085 deleterious, tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:25394175,ClinVar:RCV000777924,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240697 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287733 13q13.1 13 32370969 C G T R 2834 2834 missense 0.5325 benign, probably damaging 0.03 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359102 13q13.1 13 32370972 C A S * 2835 2835 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113951,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000779936,pubmed:25394175,ClinVar:RCV000509923 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359102 13q13.1 13 32370972 C G S * 2835 2835 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256554 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs11571746 13q13.1 13 32370971 T C S P 2835 2835 0.001398 missense 0.5105 benign, probably damaging 0.4 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11571746 COSM5020027 13q13.1 13 32370971 T C S P 2835 2835 0.00139999995008111 missense 0.37733 benign, probably damaging 0.26667 deleterious - low confidence, tolerated 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000735612 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs863224599 13q13.1 13 32370975 C G S C 2836 2836 missense 0.377 benign, probably damaging 0.01667 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000812234,pubmed:25394175,ClinVar:RCV000579989 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs863224599 13q13.1 13 32370975 C T S F 2836 2836 missense 0.893 possibly damaging, probably damaging 0.03333 deleterious, deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662827,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000196282,pubmed:25394175,ClinVar:RCV000580488 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587780663 13q13.1 13 32370978 G T G V 2837 2837 missense 0.9995 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122934,pubmed:25394175,ClinVar:RCV000579466 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040779 13q13.1 13 32370981 T G L * 2838 2838 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257585 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040779 13q13.1 13 32370981 T A L * 2838 2838 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257071 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224315 13q13.1 13 32370985 C A Y * 2839 2839 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256702 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202204 13q13.1 13 32370984 A G Y C 2839 2839 missense 0.42167 benign, probably damaging 0.08667 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164908 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs758884639 13q13.1 13 32370983 T C Y H 2839 2839 missense 0.66167 benign, probably damaging 0.07333 deleterious, deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167960,pubmed:25394175,ClinVar:RCV000580149 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566249235 13q13.1 13 32370987 T C I T 2840 2840 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000693890 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359103 13q13.1 13 32370986 A G I V 2840 2840 missense 0.372 benign, probably damaging 0.80333 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113953,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045543,pubmed:25394175,ClinVar:RCV000132218 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP,gnomAD rs80359104 COSM946875 13q13.1 13 32370992 C T R C 2842 2842 missense 1.0 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077443,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045544,pubmed:25394175,ClinVar:RCV000165225 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,gnomAD rs80359105 13q13.1 13 32370993 G A R H 2842 2842 2.0E-4 missense 0.998 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80359105 13q13.1 13 32370993 G A R H 2842 2842 missense 0.999 probably damaging 0.0 deleterious, deleterious - low confidence 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077444 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80359105 13q13.1 13 32370993 G T R L 2842 2842 missense 0.999 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113954,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000526300,pubmed:25394175,ClinVar:RCV000130831 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs80359105 13q13.1 13 32370993 G T R L 2842 2842 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876660403 13q13.1 13 32370995 A G N D 2843 2843 missense 0.1625 benign 0.09 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000541298,pubmed:25394175,ClinVar:RCV000219865 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs876660403 13q13.1 13 32370995 A C N H 2843 2843 missense 0.8565 possibly damaging, probably damaging 0.005 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573644 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359107 13q13.1 13 32370996 A G N S 2843 2843 missense 0.2175 benign 0.105 tolerated, tolerated - low confidence 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113955 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs900871740 13q13.1 13 32370999 A C E A 2844 2844 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs900871740 13q13.1 13 32370999 A G E G 2844 2844 missense 0.72533 benign, probably damaging 0.20333 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs755783122 13q13.1 13 32370998 G A E K 2844 2844 missense 0.85567 possibly damaging, probably damaging 0.18333 deleterious, tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:227650,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662587,pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000307069,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000232530,pubmed:25394175,ClinVar:RCV000215245 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040781 13q13.1 13 32371004 G T E * 2846 2846 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257559 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287759 13q13.1 13 32371009 A C E D 2847 2847 missense 0.9895 probably damaging 0.005 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580837 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359108 13q13.1 13 32371007 G A E K 2847 2847 missense 0.998 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113958,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045551,pubmed:25394175,ClinVar:RCV000564844 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786201871 13q13.1 13 32371012 A T E D 2848 2848 missense 0.641 benign, probably damaging 0.02667 deleterious, deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000792993,pubmed:25394175,ClinVar:RCV000164371 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786201871 13q13.1 13 32371012 A C E D 2848 2848 missense 0.641 benign, probably damaging 0.02667 deleterious, deleterious - low confidence, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474464 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781893 13q13.1 13 32371010 G C E Q 2848 2848 missense 0.71367 benign, probably damaging 0.02667 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:604370 ClinVar:RCV000768608,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000257963,pubmed:25394175,ClinVar:RCV000130229 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359109 13q13.1 13 32371013 A G K E 2849 2849 missense 0.63933 benign, possibly damaging, probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077445,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045552,pubmed:25394175,ClinVar:RCV000162806 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs749039580 13q13.1 13 32371015 G C K N 2849 2849 missense 0.7735 possibly damaging, probably damaging 0.0 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359110 13q13.1 13 32371016 G T E * 2850 2850 stop gained 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000540222,pubmed:25394175,ClinVar:RCV000571409 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566249284 13q13.1 13 32371018 A C E D 2850 2850 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777006 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359110 13q13.1 13 32371016 G A E K 2850 2850 missense 0.8245 possibly damaging, probably damaging 0.015 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113959,pubmed:25394175,ClinVar:RCV000579812 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658592 13q13.1 13 32371019 G T A S 2851 2851 missense 0.516 benign, possibly damaging, probably damaging 0.03 deleterious, deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697939,pubmed:25394175,ClinVar:RCV000223606 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660247 13q13.1 13 32371020 C T A V 2851 2851 missense 0.5085 benign, probably damaging 0.005 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220977 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287769 13q13.1 13 32371022 G C A P 2852 2852 missense 0.9015 possibly damaging, probably damaging 0.02 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510053 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287769 13q13.1 13 32371022 G A A T 2852 2852 missense 0.999 probably damaging 0.36 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570948 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057517865 13q13.1 13 32371025 A T K * 2853 2853 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661783 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs768560674 13q13.1 13 32371026 A G K R 2853 2853 missense 0.3305 benign, possibly damaging 0.235 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786201333 13q13.1 13 32371030 T A Y * 2854 2854 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637354 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs786201333 13q13.1 13 32371030 T G Y * 2854 2854 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11571747 13q13.1 13 32371035 A C E A 2856 2856 missense 0.57667 benign, possibly damaging, probably damaging 0.08 deleterious, tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853610 13q13.1 13 32371036 G T E D 2856 2856 missense 0.5225 benign, probably damaging 0.03 deleterious, deleterious - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000227497 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881565 13q13.1 13 32371037 G C A P 2857 2857 missense 0.693 possibly damaging, probably damaging 0.20667 deleterious, tolerated, tolerated - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206063 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881565 13q13.1 13 32371037 G T A S 2857 2857 missense 0.29267 benign, possibly damaging 0.66333 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216821 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881565 13q13.1 13 32371037 G A A T 2857 2857 missense 0.30967 benign, possibly damaging 0.63 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582793 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs748143090 13q13.1 13 32371038 C T A V 2857 2857 missense 0.2295 benign 0.32 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80359112 13q13.1 13 32371040 C T Q * 2858 2858 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113962,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496700 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs80359112 13q13.1 13 32371040 C T Q * 2858 2858 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80359112 13q13.1 13 32371040 C A Q K 2858 2858 missense 0.4355 benign, possibly damaging 0.54 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113961,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045560,pubmed:25394175,ClinVar:RCV000166603 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs80359112 13q13.1 13 32371040 C A Q K 2858 2858 missense 0.62 possibly damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359114 13q13.1 13 32371041 A G Q R 2858 2858 missense 0.7595 possibly damaging, probably damaging 0.18 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359114 13q13.1 13 32371041 A G Q R 2858 2858 missense 0.277 benign, possibly damaging 0.505 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359115 13q13.1 13 32371043 C T Q * 2859 2859 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113964,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045563,pubmed:25394175,ClinVar:RCV000509703 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122608 13q13.1 13 32371049 A T R * 2861 2861 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077032,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000699930,pubmed:25394175,ClinVar:RCV000130528 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1225373762 13q13.1 13 32371050 G T R I 2861 2861 missense 0.31867 benign, possibly damaging 0.02333 deleterious, deleterious - low confidence, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1131692114 13q13.1 13 32371052 C A L I 2862 2862 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773311 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287775 13q13.1 13 32371053 T A L Q 2862 2862 missense 0.96933 probably damaging 0.01667 deleterious, deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568715 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359116 13q13.1 13 32371059 C G A G 2864 2864 missense 0.40133 benign, possibly damaging 0.03 deleterious, deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509804 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1331784222 13q13.1 13 32371058 G T A S 2864 2864 missense 0.38 benign, possibly damaging 0.06667 deleterious, deleterious - low confidence, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359116 13q13.1 13 32371059 C T A V 2864 2864 missense 0.081 benign 0.14 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113966,pubmed:25394175,ClinVar:RCV000165226 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359118 13q13.1 13 32371062 T A L * 2865 2865 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113968 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359117 13q13.1 13 32371061 T G L V 2865 2865 missense 0.773 benign, possibly damaging, probably damaging 0.01333 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031754,pubmed:25394175,ClinVar:RCV000574991 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566249367 13q13.1 13 32371064 T G F V 2866 2866 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776776 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287785 13q13.1 13 32371068 C T T I 2867 2867 missense 0.52367 benign, possibly damaging 0.00333 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562393 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359119 13q13.1 13 32371067 A C T P 2867 2867 missense 0.6855 possibly damaging 0.015 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083148,pubmed:25394175,ClinVar:RCV000571223 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1469574477 13q13.1 13 32371070 A G K E 2868 2868 missense 0.59867 benign, possibly damaging, probably damaging 0.05333 deleterious, deleterious - low confidence, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs759784406 13q13.1 13 32371071 A G K R 2868 2868 missense 0.135 benign 0.085 deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000821562,pubmed:25394175,ClinVar:RCV000509678 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566249383 13q13.1 13 32371074 T A I N 2869 2869 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691491 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs587782010 COSM3468414 13q13.1 13 32371076 C T Q * 2870 2870 stop gained -1.0 unknown -1.0 unknown 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241135,pubmed:25394175,ClinVar:RCV000130433 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566249398 13q13.1 13 32371080 A C E A 2871 2871 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689755 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782860 13q13.1 13 32371079 G C E Q 2871 2871 missense 0.249 benign 0.04 deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome MIM:601626 pubmed:20963938,pubmed:22138009,pubmed:23970018,ClinVar:RCV000761078,pubmed:25394175,ClinVar:RCV000132479 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555287788 13q13.1 13 32371082 G A E K 2872 2872 missense 0.5795 benign, possibly damaging 0.035 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564672 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359120 13q13.1 13 32371086 T G F C 2873 2873 missense 0.9735 probably damaging 0.0 deleterious, deleterious - low confidence 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113969 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs765391746 13q13.1 13 32371087 T A F L 2873 2873 missense 0.48167 benign, probably damaging 0.11333 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs397507996 13q13.1 13 32371088 G T E * 2874 2874 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507996 13q13.1 13 32371088 G T E * 2874 2874 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000225505 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs397507996 13q13.1 13 32371088 G A E K 2874 2874 missense 0.8395 possibly damaging, probably damaging 0.15 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397507996 13q13.1 13 32371088 G A E K 2874 2874 missense 0.679 benign, probably damaging 0.135 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582840 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502470 13q13.1 13 32371095 A C H P 2876 2876 missense 0.429 benign, possibly damaging 0.03 deleterious, deleterious - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459447 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1060502470 13q13.1 13 32371095 A G H R 2876 2876 missense 0.008 benign 0.185 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs775860292 13q13.1 13 32371094 C T H Y 2876 2876 missense 0.45733 benign, possibly damaging 0.05 deleterious, deleterious - low confidence, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359121 13q13.1 13 32371097 G T E * 2877 2877 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113970,pubmed:25394175,ClinVar:RCV000218194 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1064794960 13q13.1 13 32371098 A G E G 2877 2877 missense 0.90467 possibly damaging, probably damaging 0.0 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203358 13q13.1 13 32376670 A G E G 2878 2878 missense 0.0 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637779,pubmed:25394175,ClinVar:RCV000166633 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122710 13q13.1 13 32371100 G A E K 2878 2878 missense 0.0785 benign 0.025 deleterious, deleterious - low confidence 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240702 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs775564742 13q13.1 13 32376674 C G N K 2879 2879 missense 0.001 benign 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs763287077 13q13.1 13 32376675 A G T A 2880 2880 missense 0.073 benign 0.56 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288123 COSM946877 13q13.1 13 32376676 C T T I 2880 2880 missense 0.143 benign 0.39 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572002 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288123 13q13.1 13 32376676 C G T R 2880 2880 missense 0.09 benign 0.27 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508000 13q13.1 13 32376681 A T K * 2882 2882 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661593 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622658 13q13.1 13 32376683 A T K N 2882 2882 missense 0.019 benign 0.05 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204787 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs762246431 13q13.1 13 32376685 C G P R 2883 2883 missense 0.003 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359122 13q13.1 13 32376684 C T P S 2883 2883 missense 0.086 benign 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040787 13q13.1 13 32376689 T G Y * 2884 2884 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256932 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781494 13q13.1 13 32376688 A G Y C 2884 2884 missense 0.001 benign 0.95 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689857 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781494 13q13.1 13 32376688 A T Y F 2884 2884 missense 0.003 benign 0.63 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000584615 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782722 13q13.1 13 32376693 C G P A 2886 2886 missense 0.307 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000795687,pubmed:25394175,ClinVar:RCV000132212 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs932755856 13q13.1 13 32376694 C T P L 2886 2886 missense 0.019 benign 0.32 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782722 13q13.1 13 32376693 C A P T 2886 2886 missense 0.402 benign 0.14 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221576 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359123 13q13.1 13 32376699 C T R C 2888 2888 missense 0.806 possibly damaging 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000535357 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80359124 COSM946879 13q13.1 13 32376700 G A R H 2888 2888 missense 0.003 benign 0.47 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113981,pubmed:25394175,ClinVar:RCV000215217 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359124 13q13.1 13 32376700 G T R L 2888 2888 missense 0.132 benign 0.09 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113983 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359124 13q13.1 13 32376700 G C R P 2888 2888 missense 0.011 benign 0.05 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113982 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359126 13q13.1 13 32376702 G T A S 2889 2889 missense 0.116 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113984,pubmed:25394175,ClinVar:RCV000216553 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80359126 13q13.1 13 32376702 G A A T 2889 2889 missense 0.01 benign 0.19 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359127 13q13.1 13 32376705 C A L I 2890 2890 missense 0.402 benign 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045597 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1401510742 13q13.1 13 32376709 C T T I 2891 2891 missense 0.75 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1401510742 13q13.1 13 32376709 C G T R 2891 2891 missense 0.405 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000550387,pubmed:25394175,ClinVar:RCV000568136 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507409 13q13.1 13 32376714 C T Q * 2893 2893 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031760,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045600 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566251407 13q13.1 13 32376716 G T Q H 2893 2893 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000687926 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288153 13q13.1 13 32376715 A G Q R 2893 2893 missense 0.003 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508002 13q13.1 13 32376717 C T Q * 2894 2894 stop gained 0 Familial cancer of breast BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480 pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000577659 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1172224921 13q13.1 13 32376718 A G Q R 2894 2894 missense 0.311 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000528663 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs373203204 13q13.1 13 32376723 C T R C 2896 2896 missense 0.003 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 ClinVar:RCV000768609,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000257957,pubmed:25394175,ClinVar:RCV000223550 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359128 13q13.1 13 32376724 G A R H 2896 2896 missense 0.003 benign 0.3 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129089 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs373203204 13q13.1 13 32376723 C A R S 2896 2896 2.0E-4 missense 0.257 benign 0.16 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288157 13q13.1 13 32376727 C G A G 2897 2897 missense 0.798 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564634 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288156 13q13.1 13 32376726 G T A S 2897 2897 missense 0.743 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579893 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288160 13q13.1 13 32376729 T G L V 2898 2898 missense 0.743 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000697605 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507411 13q13.1 13 32376732 C T Q * 2899 2899 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:114480,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031762,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000045603,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000779984,pubmed:25394175,ClinVar:RCV000566353 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122712 13q13.1 13 32376736 A T D V 2900 2900 missense 0.95 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077641,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000534579,pubmed:25394175,ClinVar:RCV000564657 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80359129 13q13.1 13 32376739 G A G D 2901 2901 missense 0.985 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195309 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80359129 13q13.1 13 32376739 G T G V 2901 2901 missense 0.501 possibly damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238663,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637407 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288163 13q13.1 13 32376741 G A A T 2902 2902 missense 0.901 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000549352,pubmed:25394175,ClinVar:RCV000777215 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288166 13q13.1 13 32376744 G T E * 2903 2903 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661711,pubmed:25394175,ClinVar:RCV000509737 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566251461 13q13.1 13 32376746 G C E D 2903 2903 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773971 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs730881566 13q13.1 13 32376745 A G E G 2903 2903 missense 0.714 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 ClinVar:RCV000761160,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000698367 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs730881566 13q13.1 13 32376745 A T E V 2903 2903 missense 0.744 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288167 13q13.1 13 32376747 C T L F 2904 2904 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509591 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs431825368 13q13.1 13 32376751 A G Y C 2905 2905 missense 0.959 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082992,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460625,pubmed:25394175,ClinVar:RCV000584302 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288170 13q13.1 13 32376750 T C Y H 2905 2905 missense 0.945 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637750 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs28897753 13q13.1 13 32376760 T G V G 2908 2908 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077449,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167857,pubmed:25394175,ClinVar:RCV000131647 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs483353124 13q13.1 13 32376759 G A V M 2908 2908 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113989,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000821493,pubmed:25394175,ClinVar:RCV000218173 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1490054973 13q13.1 13 32376765 A C N H 2910 2910 missense 0.022 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359130 13q13.1 13 32376769 C A A E 2911 2911 missense 0.858 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359130 13q13.1 13 32376769 C A A E 2911 2911 missense 0.858 possibly damaging 0.0 deleterious 0 Fanconi anemia, complementation group D1 (FANCD1) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:605724 pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000009926 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359130 13q13.1 13 32376769 C G A G 2911 2911 missense 0.549 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000468443,pubmed:25394175,ClinVar:RCV000509664 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359130 13q13.1 13 32376769 C G A G 2911 2911 missense 0.549 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359130 13q13.1 13 32376769 C T A V 2911 2911 missense 0.834 possibly damaging 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113990,pubmed:25394175,ClinVar:RCV000223485 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359130 13q13.1 13 32376769 C T A V 2911 2911 missense 0.834 possibly damaging 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786201996 13q13.1 13 32376776 C G D E 2913 2913 missense 0.143 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000768610,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238725,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000257980,pubmed:25394175,ClinVar:RCV000164571 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs144322424 13q13.1 13 32376774 G C D H 2913 2913 missense 0.976 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000527864,pubmed:25394175,ClinVar:RCV000216210 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs144322424 13q13.1 13 32376774 G A D N 2913 2913 missense 0.898 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566251497 13q13.1 13 32376775 A T D V 2913 2913 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000707038 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876660226 13q13.1 13 32376777 C G P A 2914 2914 missense 0.998 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219964 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs876660226 13q13.1 13 32376777 C T P S 2914 2914 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1310128359 13q13.1 13 32376781 C T A V 2915 2915 missense 0.142 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706907,pubmed:25394175,ClinVar:RCV000572298 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288178 13q13.1 13 32376787 T C L P 2917 2917 missense 0.72 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510060 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566251519 13q13.1 13 32376786 C G L V 2917 2917 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772508 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288179 13q13.1 13 32376789 G C E Q 2918 2918 missense 0.023 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000798527,pubmed:25394175,ClinVar:RCV000509959 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359131 13q13.1 13 32379318 G A G D 2919 2919 missense 0.985 probably damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562924 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359131 13q13.1 13 32379318 G T G V 2919 2919 missense 0.943 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045621,pubmed:25394175,ClinVar:RCV000130693 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040790 13q13.1 13 32379322 T G Y * 2920 2920 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256501 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC rs752464596 13q13.1 13 32379321 A G Y C 2920 2920 missense 0.001 benign 0.33 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359132 13q13.1 13 32379326 A G S G 2922 2922 missense 0.991 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195383,pubmed:25394175,ClinVar:RCV000165036 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881567 13q13.1 13 32379327 G A S N 2922 2922 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168175,pubmed:25394175,ClinVar:RCV000222266 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359132 13q13.1 13 32379326 A C S R 2922 2922 missense 0.998 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502497 13q13.1 13 32379328 T G S R 2922 2922 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460726,pubmed:25394175,ClinVar:RCV000580679 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1334458965 13q13.1 13 32379329 G A E K 2923 2923 missense 0.71 possibly damaging 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637604,pubmed:25394175,ClinVar:RCV000574459 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359133 13q13.1 13 32379332 G T E * 2924 2924 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083149,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045624,pubmed:25394175,ClinVar:RCV000583458 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658844 13q13.1 13 32379333 A G E G 2924 2924 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690114,pubmed:25394175,ClinVar:RCV000213436 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80359134 13q13.1 13 32379335 C T Q * 2925 2925 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113998,pubmed:25394175,ClinVar:RCV000574376 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359136 13q13.1 13 32379337 G C Q H 2925 2925 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077452,pubmed:25394175,ClinVar:RCV000130540 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80359136 13q13.1 13 32379337 G T Q H 2925 2925 missense 0.998 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs80359134 13q13.1 13 32379335 C A Q K 2925 2925 missense 0.986 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359135 13q13.1 13 32379336 A C Q P 2925 2925 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573292 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359135 13q13.1 13 32379336 A G Q R 2925 2925 missense 0.991 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000113999,pubmed:25394175,ClinVar:RCV000510072 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs886040791 13q13.1 13 32379339 T A L * 2926 2926 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257704,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000555765 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288372 13q13.1 13 32379342 G A R K 2927 2927 missense 0.5595 benign, probably damaging 0.26 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000529536 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587781762 13q13.1 13 32379344 G T A S 2928 2928 missense 0.845 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000544583,pubmed:25394175,ClinVar:RCV000129984 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397508008 13q13.1 13 32379351 A G N S 2930 2930 missense 0.069 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509762 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs397508008 13q13.1 13 32379351 A C N T 2930 2930 missense 0.461 possibly damaging 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs895758995 13q13.1 13 32379353 A G N D 2931 2931 missense 0.811 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000559269,pubmed:25394175,ClinVar:RCV000509838 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1225836672 13q13.1 13 32379358 C G H Q 2932 2932 missense 0.816 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1225836672 13q13.1 13 32379358 C A H Q 2932 2932 missense 0.816 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs553440338 13q13.1 13 32379360 G A R K 2933 2933 missense 0.991 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637406,pubmed:25394175,ClinVar:RCV000131983 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs553440338 13q13.1 13 32379360 G C R T 2933 2933 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637645,pubmed:25394175,ClinVar:RCV000223494 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881568 13q13.1 13 32379367 G A M I 2935 2935 missense 0.311 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs80359138 13q13.1 13 32379370 G C L F 2936 2936 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114004,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045631,pubmed:25394175,ClinVar:RCV000130654 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359137 13q13.1 13 32379368 T A L M 2936 2936 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114003,pubmed:25394175,ClinVar:RCV000575016 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122714 13q13.1 13 32379369 T C L S 2936 2936 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077643,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198146,pubmed:25394175,ClinVar:RCV000132403 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507414 13q13.1 13 32379379 G C K N 2939 2939 missense 0.998 probably damaging 0.0 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031770,ClinVar:RCV000765142,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765142,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765142,ClinVar:RCV000765142,pubmed:25394175,ClinVar:RCV000509817,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765142,ClinVar:RCV000765142,ClinVar:RCV000765142,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765142 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs755075283 13q13.1 13 32379378 A G K R 2939 2939 missense 0.996 probably damaging 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP rs200157227 13q13.1 13 32379381 A G K R 2940 2940 missense 0.024 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567588 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508012 13q13.1 13 32379383 C T Q * 2941 2941 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256787 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs779091957 13q13.1 13 32379384 A G Q R 2941 2941 missense 0.991 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs373227180 13q13.1 13 32379387 C A A D 2942 2942 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000693651,pubmed:25394175,ClinVar:RCV000166381 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359139 13q13.1 13 32379386 G A A T 2942 2942 missense 0.999 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114005,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045636,pubmed:25394175,ClinVar:RCV000129548 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs373227180 13q13.1 13 32379387 C T A V 2942 2942 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:227650,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000409083,pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000356690,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233879,pubmed:25394175,ClinVar:RCV000130462 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs4987047 13q13.1 13 32379392 A T I F 2944 2944 missense 0.908 possibly damaging 0.0 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000413753 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566252630 13q13.1 13 32379397 G C Q H 2945 2945 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773337 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs587781800 13q13.1 13 32379396 A C Q P 2945 2945 missense 0.996 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587781800 13q13.1 13 32379396 A G Q R 2945 2945 missense 0.991 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000410010,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462799,pubmed:25394175,ClinVar:RCV000130065 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825371 13q13.1 13 32379399 T A L * 2946 2946 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082995,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471016,pubmed:25394175,ClinVar:RCV000164349 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122715 13q13.1 13 32379401 G T E * 2947 2947 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077644,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198305,pubmed:25394175,ClinVar:RCV000579572 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793691 13q13.1 13 32379406 T G I M 2948 2948 missense 0.667 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000801790,pubmed:25394175,ClinVar:RCV000580144 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1228570038 13q13.1 13 32379404 A G I V 2948 2948 missense 0.055 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897754 13q13.1 13 32379412 G T K N 2950 2950 missense 0.891 possibly damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:612555 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114008 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660155 13q13.1 13 32379411 A G K R 2950 2950 missense 0.039 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238942,pubmed:25394175,ClinVar:RCV000215509 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11571769 13q13.1 13 32379413 G T A S 2951 2951 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509993 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11571769 13q13.1 13 32379413 G A A T 2951 2951 missense 0.999 probably damaging 0.0 deleterious 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:227650 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000322663 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs397508016 13q13.1 13 32379416 A T M L 2952 2952 missense 0.003 benign 0.54 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs397508016 13q13.1 13 32379416 A G M V 2952 2952 missense 0.015 benign 0.69 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166571 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs775261666 13q13.1 13 32379419 G A E K 2953 2953 missense 0.021 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886041145 13q13.1 13 32379422 T C S P 2954 2954 missense 0.977 probably damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562009 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566252676 13q13.1 13 32379425 G A A T 2955 2955 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000693162 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs151174152 13q13.1 13 32379429 A C E A 2956 2956 missense 0.999 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130252 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs142040996 13q13.1 13 32379428 G A E K 2956 2956 missense 0.998 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572087 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,TOPMed,dbSNP,gnomAD rs142040996 13q13.1 13 32379428 G C E Q 2956 2956 missense 0.999 probably damaging 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220440 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs276174913 13q13.1 13 32379431 C T Q * 2957 2957 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031773 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659783 13q13.1 13 32379433 A T Q H 2957 2957 missense 0.999 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223143 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs763943647 13q13.1 13 32379432 A G Q R 2957 2957 missense 0.993 probably damaging 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202920 13q13.1 13 32379437 G T E * 2959 2959 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241376,pubmed:25394175,ClinVar:RCV000165989 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202920 13q13.1 13 32379437 G A E K 2959 2959 missense 0.018 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000463176,pubmed:25394175,ClinVar:RCV000776335 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359140 13q13.1 13 32379440 C T Q * 2960 2960 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077455,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045646,pubmed:25394175,ClinVar:RCV000162940 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs757088844 13q13.1 13 32379441 A G Q R 2960 2960 missense 0.013 benign 0.15 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000537861 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853614 13q13.1 13 32379443 G A G S 2961 2961 missense 0.999 probably damaging 0.4 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000228865,pubmed:25394175,ClinVar:RCV000564860 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs886040798 13q13.1 13 32379450 C G S * 2963 2963 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257755 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs886040798 13q13.1 13 32379450 C T S L 2963 2963 missense 0.747 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288392 13q13.1 13 32379453 G A R K 2964 2964 missense 0.993 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566728 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555288392 13q13.1 13 32379453 G C R T 2964 2964 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs767481384 13q13.1 13 32379456 A G D G 2965 2965 missense 0.516 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000551840,pubmed:25394175,ClinVar:RCV000569847 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359141 13q13.1 13 32379455 G C D H 2965 2965 missense 0.87 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129723 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs767481384 13q13.1 13 32379456 A T D V 2965 2965 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774894 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658955 13q13.1 13 32379459 T C V A 2966 2966 missense 0.995 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637359,pubmed:25394175,ClinVar:RCV000216219 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1051853391 13q13.1 13 32379458 G A V I 2966 2966 missense 0.967 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587782021 13q13.1 13 32379464 A G T A 2968 2968 missense 0.003 benign 0.41 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000410479,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000557418,pubmed:25394175,ClinVar:RCV000130450 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs59004709 13q13.1 13 32379467 G T V L 2969 2969 missense 0.013 benign 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000536017 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs59004709 13q13.1 13 32379467 G A V M 2969 2969 missense 0.133 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288397 13q13.1 13 32379471 G A W * 2970 2970 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558467 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040799 13q13.1 13 32379472 G A W * 2970 2970 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256874 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886038187 13q13.1 13 32379473 A T K * 2971 2971 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241033 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359142 13q13.1 13 32379477 T A L * 2972 2972 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256493 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80359142 13q13.1 13 32379477 T G L W 2972 2972 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114014,pubmed:25394175,ClinVar:RCV000215767 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs45469092 13q13.1 13 32379479 C T R C 2973 2973 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs45469092 13q13.1 13 32379479 C G R G 2973 2973 missense 1.0 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114015 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80359143 13q13.1 13 32379480 G A R H 2973 2973 missense 1.0 probably damaging 0.0 deleterious 0 Neuroblastoma (NBLST1) ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. MIM:256700 ClinVar:RCV000770734,pubmed:20301782,ClinVar:RCV000761134 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359143 13q13.1 13 32379480 G C R P 2973 2973 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000524809 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1197950867 13q13.1 13 32379482 A G I V 2974 2974 missense 0.006 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704729 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1006688520 13q13.1 13 32379485 G A V I 2975 2975 missense 0.011 benign 0.58 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs771267741 13q13.1 13 32379490 C G S R 2976 2976 missense 1.0 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000463522,pubmed:25394175,ClinVar:RCV000217481 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040801 13q13.1 13 32379493 T A Y * 2977 2977 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257156 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040801 13q13.1 13 32379493 T G Y * 2977 2977 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587776473 13q13.1 13 32379491 T C Y H 2977 2977 missense 0.062 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000550010,pubmed:25394175,ClinVar:RCV000771705 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs781715267 13q13.1 13 32379492 A C Y S 2977 2977 missense 0.787 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359144 13q13.1 13 32379495 C G S * 2978 2978 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077645 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359144 13q13.1 13 32379495 C A S * 2978 2978 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114016,pubmed:25394175,ClinVar:RCV000449077 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040802 13q13.1 13 32379500 A T K * 2980 2980 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257670 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs139052578 13q13.1 13 32379503 G T E * 2981 2981 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257646,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496957 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122716 13q13.1 13 32379504 A G E G 2981 2981 missense 0.67 possibly damaging 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077646,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000200725,pubmed:25394175,ClinVar:RCV000510052 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs139052578 13q13.1 13 32379503 G A E K 2981 2981 missense 0.502 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130691 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359145 13q13.1 13 32379506 A C K Q 2982 2982 missense 0.015 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114017,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045662,pubmed:25394175,ClinVar:RCV000708685 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359146 13q13.1 13 32379513 C A S * 2984 2984 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257587,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472639 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359146 13q13.1 13 32379513 C G S * 2984 2984 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114019,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496423 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659461 13q13.1 13 32379512 T A S T 2984 2984 missense 0.986 probably damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215392 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122719 13q13.1 13 32379754 A G I M 2986 2986 missense 0.072 benign 0.23 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077649,pubmed:25394175,ClinVar:RCV000218696 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs431825372 13q13.1 13 32379753 T C I T 2986 2986 missense 0.024 benign 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs758549281 13q13.1 13 32379752 A G I V 2986 2986 missense 0.163 benign 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359147 13q13.1 13 32379758 A G S G 2988 2988 missense 0.424 benign 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114024 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs778052683 13q13.1 13 32379759 G A S N 2988 2988 missense 0.01 benign 0.24 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000531141 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs778052683 13q13.1 13 32379759 G C S T 2988 2988 missense 0.249 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566253038 13q13.1 13 32379762 T C I T 2989 2989 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000706995 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359149 13q13.1 13 32379766 G A W * 2990 2990 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114026,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045675,pubmed:25394175,ClinVar:RCV000565595 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359148 13q13.1 13 32379765 G A W * 2990 2990 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114025,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637796,pubmed:25394175,ClinVar:RCV000131050 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,dbSNP,gnomAD rs751787816 COSM1366490 13q13.1 13 32379767 C T R C 2991 2991 missense 0.083 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000810854,pubmed:25394175,ClinVar:RCV000580285 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359150 13q13.1 13 32379768 G A R H 2991 2991 missense 0.909 probably damaging 0.03 deleterious 0 Retinoblastoma (RB1) Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. MIM:180200 pubmed:15604628,pubmed:20301625,pubmed:23788249,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000761071 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508025 13q13.1 13 32379774 C A S * 2993 2993 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256867 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508025 13q13.1 13 32379774 C G S * 2993 2993 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241294,pubmed:25394175,ClinVar:RCV000221983 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566253076 13q13.1 13 32379777 C T S L 2994 2994 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000708686 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622200 13q13.1 13 32379783 T A L * 2996 2996 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241094,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204346 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs397508028 COSM279200 13q13.1 13 32379787 T G Y * 2997 2997 stop gained -1.0 unknown -1.0 unknown 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257890,pubmed:25394175,ClinVar:RCV000771470 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs770449225 13q13.1 13 32379786 A G Y C 2997 2997 missense 0.024 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000477608 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1170435838 13q13.1 13 32379785 T C Y H 2997 2997 missense 0.024 benign 0.34 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs587780664 13q13.1 13 32379789 C G S C 2998 2998 missense 0.997 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587780664 13q13.1 13 32379789 C T S F 2998 2998 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122937,pubmed:25394175,ClinVar:RCV000570751 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1442009294 13q13.1 13 32379788 T A S T 2998 2998 missense 0.959 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587780664 13q13.1 13 32379789 C A S Y 2998 2998 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581769 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660476 13q13.1 13 32379792 T C L P 2999 2999 missense 0.933 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688839,pubmed:25394175,ClinVar:RCV000222396 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288453 13q13.1 13 32379791 C G L V 2999 2999 missense 0.11 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000560838 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80359151 13q13.1 13 32379795 T A L * 3000 3000 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114029 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs80359151 13q13.1 13 32379795 T C L S 3000 3000 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566253122 13q13.1 13 32379794 T G L V 3000 3000 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566253126 13q13.1 13 32379798 C A T K 3001 3001 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774898 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359153 13q13.1 13 32379802 A T E D 3002 3002 missense 0.98 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083151,pubmed:25394175,ClinVar:RCV000129004 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288459 13q13.1 13 32379801 A G E G 3002 3002 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562479 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359152 13q13.1 13 32379800 G A E K 3002 3002 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195385 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508029 13q13.1 13 32379803 G T G * 3003 3003 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661574 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566253139 13q13.1 13 32379804 G A G E 3003 3003 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000799463,pubmed:25394175,ClinVar:RCV000773599 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs748815473 13q13.1 13 32379808 G C K N 3004 3004 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782779 13q13.1 13 32379807 A G K R 3004 3004 missense 0.01 benign 0.12 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000530210,pubmed:25394175,ClinVar:RCV000132316 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037821 13q13.1 13 32379810 G C R T 3005 3005 missense 0.999 probably damaging 0.0 deleterious 1 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240799 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359154 13q13.1 13 32379814 C A Y * 3006 3006 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114031,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000587546,pubmed:25394175,ClinVar:RCV000131053 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359154 13q13.1 13 32379814 C G Y * 3006 3006 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583561 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507416 13q13.1 13 32379812 T G Y D 3006 3006 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031785,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000465067,pubmed:25394175,ClinVar:RCV000132244 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507417 13q13.1 13 32379815 A G R G 3007 3007 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000735617,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031786,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167961,pubmed:25394175,ClinVar:RCV000167398 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886037820 13q13.1 13 32379816 G A R K 3007 3007 missense 0.99 probably damaging 0.03 deleterious 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240753 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622696 13q13.1 13 32379818 A G I V 3008 3008 missense 0.975 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206442,pubmed:25394175,ClinVar:RCV000773158 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs864622568 13q13.1 13 32379823 T G Y * 3009 3009 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000240965,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205381 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566253193 13q13.1 13 32379825 A G H R 3010 3010 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774004 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,dbSNP rs80359155 13q13.1 13 32379828 T C L P 3011 3011 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:227650,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077458,pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000377237,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045694,pubmed:25394175,ClinVar:RCV000130329 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768335521 13q13.1 13 32379831 C A A E 3012 3012 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000462616 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768335521 13q13.1 13 32379831 C G A G 3012 3012 missense 0.962 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000456830 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288470 13q13.1 13 32379833 A G T A 3013 3013 missense 0.003 benign 0.72 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570012 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs28897755 13q13.1 13 32379834 C T T I 3013 3013 missense 0.472 possibly damaging 0.06 tolerated 0 Breast cancer (BC) A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359156 13q13.1 13 32379837 C A S * 3014 3014 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114034 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359156 13q13.1 13 32379837 C G S * 3014 3014 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000559907 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs587781497 13q13.1 13 32379839 A G K E 3015 3015 missense 0.365 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000533812,pubmed:25394175,ClinVar:RCV000129464 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288473 13q13.1 13 32379845 A G K E 3017 3017 missense 0.914 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510001 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825373 13q13.1 13 32379848 A G S G 3018 3018 missense 0.3465 benign, possibly damaging 0.3 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000082998,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000703275,pubmed:25394175,ClinVar:RCV000132352 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122720 13q13.1 13 32379849 G A S N 3018 3018 missense 0.3085 benign, possibly damaging 0.08 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077650 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359157 13q13.1 13 32379855 C G S C 3020 3020 missense 0.917 probably damaging 0.03 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114038 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781403 13q13.1 13 32379854 T C S P 3020 3020 missense 0.506 benign, probably damaging 0.075 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129254 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1182648647 13q13.1 13 32379857 G A E K 3021 3021 missense 0.062 benign 0.46 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1287932047 13q13.1 13 32379861 G A R K 3022 3022 missense 0.007 benign 0.74 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773519 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288482 13q13.1 13 32379866 A G N D 3024 3024 missense 0.116 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561709 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781493 13q13.1 13 32379867 A C N T 3024 3024 missense 0.116 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129458 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255470 13q13.1 13 32379869 A G I V 3025 3025 missense 0.495 benign, probably damaging 0.525 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238820,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000463078 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359159 13q13.1 13 32379872 C T Q * 3026 3026 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80359159 COSM3468418 13q13.1 13 32379872 C T Q * 3026 3026 stop gained -1.0 unknown -1.0 unknown 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000735618,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031790,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045706,pubmed:25394175,ClinVar:RCV000131038 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359159 13q13.1 13 32379872 C G Q E 3026 3026 missense 0.7815 possibly damaging, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359159 13q13.1 13 32379872 C G Q E 3026 3026 missense 0.984 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114041,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045705,pubmed:25394175,ClinVar:RCV000129636 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1359207910 13q13.1 13 32379874 G C Q H 3026 3026 missense 0.6 benign, probably damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709337 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359161 13q13.1 13 32379878 G C A P 3028 3028 missense 0.499 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129295 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359161 13q13.1 13 32379878 G T A S 3028 3028 missense 0.007 benign 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558966 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs56179254 13q13.1 13 32379881 G A A T 3029 3029 missense 0.316 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs56179254 13q13.1 13 32379881 G A A T 3029 3029 missense 0.218 benign 0.07 deleterious, tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000413118 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359162 13q13.1 13 32379882 C T A V 3029 3029 missense 0.1 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077459,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045708,pubmed:25394175,ClinVar:RCV000129861 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781792 13q13.1 13 32379885 C T T I 3030 3030 missense 0.995 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130049 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288501 13q13.1 13 32379890 A G K E 3032 3032 missense 0.6305 benign, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs864622582 13q13.1 13 32379892 A C K N 3032 3032 missense 0.51 benign, probably damaging 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000204782 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288501 13q13.1 13 32379890 A C K Q 3032 3032 missense 0.567 benign, probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000547788 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1299944188 13q13.1 13 32379891 A G K R 3032 3032 missense 0.511 benign, probably damaging 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs431825374 13q13.1 13 32379894 C T T I 3033 3033 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083000,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689164,pubmed:25394175,ClinVar:RCV000166290 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA rs762120301 COSM1366492 13q13.1 13 32379886 A - T L 3033 3033 frameshift -1.0 unknown -1.0 unknown 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs766308212 13q13.1 13 32379893 A C T P 3033 3033 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221181 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359163 13q13.1 13 32379896 C T Q * 3034 3034 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114047,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496303 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1336395181 13q13.1 13 32379898 G C Q H 3034 3034 missense 0.509 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000795065,pubmed:25394175,ClinVar:RCV000777058 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359164 13q13.1 13 32379897 A G Q R 3034 3034 missense 0.005 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031793,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045716,pubmed:25394175,ClinVar:RCV000132242 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040819 13q13.1 13 32379901 T G Y * 3035 3035 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257354 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359165 13q13.1 13 32379900 A G Y C 3035 3035 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114048,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000203635,pubmed:25394175,ClinVar:RCV000222955 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359165 13q13.1 13 32379900 A T Y F 3035 3035 missense 0.99 probably damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359165 13q13.1 13 32379900 A T Y F 3035 3035 missense 0.542 benign, probably damaging 0.15 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222210 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359165 13q13.1 13 32379900 A C Y S 3035 3035 missense 0.999 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 ClinVar:RCV000735620,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031794 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359165 13q13.1 13 32379900 A C Y S 3035 3035 missense 0.977 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs202155613 13q13.1 13 32379902 C T Q * 3036 3036 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257850,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637689 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs202155613 13q13.1 13 32379902 C T Q * 3036 3036 2.0E-4 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs202155613 13q13.1 13 32379902 C G Q E 3036 3036 2.0E-4 missense 0.966 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs202155613 13q13.1 13 32379902 C G Q E 3036 3036 missense 0.682 benign, probably damaging 0.11 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000289162 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs202155613 13q13.1 13 32379902 C A Q K 3036 3036 missense 0.966 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164930 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs202155613 13q13.1 13 32379902 C A Q K 3036 3036 2.0E-4 missense 0.792 possibly damaging, probably damaging 0.185 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508037 13q13.1 13 32379905 C T Q * 3037 3037 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083153 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs200814465 13q13.1 13 32379907 A T Q H 3037 3037 missense 0.4205 benign, possibly damaging 0.05 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239094,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696962 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1219194595 13q13.1 13 32379909 T G L R 3038 3038 missense 0.8375 possibly damaging, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359167 13q13.1 13 32379912 C T P L 3039 3039 missense 0.421 benign 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359167 13q13.1 13 32379912 C T P L 3039 3039 missense 0.106 benign 0.02 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083154 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359167 13q13.1 13 32379912 C A P Q 3039 3039 missense 0.46 benign, possibly damaging 0.245 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359167 13q13.1 13 32379912 C A P Q 3039 3039 missense 0.777 possibly damaging 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359167 13q13.1 13 32379912 C G P R 3039 3039 missense 0.529 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031796,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000707640,pubmed:25394175,ClinVar:RCV000130896 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs80359167 13q13.1 13 32379912 C G P R 3039 3039 missense 0.85 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288514 13q13.1 13 32379911 C T P S 3039 3039 missense 0.08 benign 0.24 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781606 13q13.1 13 32380008 T C V A 3040 3040 missense 5.0E-4 benign 0.57 tolerated, tolerated - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000702465 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359168 13q13.1 13 32380007 G T V F 3040 3040 missense 0.321 benign, possibly damaging 0.005 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580397 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359168 13q13.1 13 32380007 G A V I 3040 3040 missense 0.04167 benign 0.06 deleterious, deleterious - low confidence, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114054,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045729 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203001 13q13.1 13 32380014 A G D G 3042 3042 missense 0.477 benign, possibly damaging 0.07333 deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166102 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122610 13q13.1 13 32380016 G T E * 3043 3043 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077034,pubmed:25394175,ClinVar:RCV000130444 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057521760 13q13.1 13 32380019 A G I V 3044 3044 missense 0.047 benign 0.2 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1205776232 13q13.1 13 32380023 T C L S 3045 3045 missense 0.9905 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509882 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1217969055 13q13.1 13 32380026 T G F C 3046 3046 missense 0.53433 benign, possibly damaging 0.13333 deleterious, tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040822 13q13.1 13 32380028 C T Q * 3047 3047 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257836 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1358886039 13q13.1 13 32380030 G C Q H 3047 3047 missense 0.37067 benign, probably damaging 0.03 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776975 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040823 13q13.1 13 32380036 C G Y * 3049 3049 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564771 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040823 13q13.1 13 32380036 C A Y * 3049 3049 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256939 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs200924727 13q13.1 13 32380035 A G Y C 3049 3049 missense 0.999 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167158 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs202102902 13q13.1 13 32380034 T A Y N 3049 3049 missense 0.9965 probably damaging 0.0 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs200924727 13q13.1 13 32380035 A C Y S 3049 3049 missense 0.996 probably damaging 0.0 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359170 13q13.1 13 32380037 C T Q * 3050 3050 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083155,pubmed:25394175,ClinVar:RCV000771484 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288535 13q13.1 13 32380038 A T Q L 3050 3050 missense 0.246 benign, possibly damaging 0.39 deleterious, tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000566712 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288537 13q13.1 13 32380041 C A P Q 3051 3051 missense 0.999 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000820082 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288536 13q13.1 13 32380040 C A P T 3051 3051 missense 0.9985 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637791 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359171 13q13.1 13 32380044 G T R L 3052 3052 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000533436 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80359171 13q13.1 13 32380044 G T R L 3052 3052 missense 0.999 probably damaging 0.0 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80359171 13q13.1 13 32380044 G A R Q 3052 3052 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,dbSNP,gnomAD rs80359171 COSM946881 13q13.1 13 32380044 G A R Q 3052 3052 missense 0.999 probably damaging 0.0 deleterious, deleterious - low confidence 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000768640 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs45580035 13q13.1 13 32380043 C T R W 3052 3052 missense 1.0 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:114480,MIM:604370,MIM:612555,MIM:114480,MIM:604370 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 ClinVar:RCV000770736,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000210144,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077461,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000585715,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045732,pubmed:25394175,ClinVar:RCV000163027 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1289660997 13q13.1 13 32380048 G T E D 3053 3053 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000686967 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359172 13q13.1 13 32380050 C A P H 3054 3054 missense 0.5695 possibly damaging 0.01 deleterious, deleterious - low confidence 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114057 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359172 13q13.1 13 32380050 C T P L 3054 3054 missense 0.003 benign 0.215 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690429,pubmed:25394175,ClinVar:RCV000573424 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359172 13q13.1 13 32380050 C G P R 3054 3054 missense 0.354 benign, possibly damaging 0.03 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579845 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs786204070 13q13.1 13 32380049 C T P S 3054 3054 missense 0.008 benign 0.245 tolerated, tolerated - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167956 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876661266 13q13.1 13 32380057 C G H Q 3056 3056 missense 0.22433 benign, possibly damaging 0.57333 tolerated, tolerated - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691157 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1420447960 13q13.1 13 32380055 C T H Y 3056 3056 missense 0.212 benign, possibly damaging 0.55667 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs747615055 13q13.1 13 32380060 C G F L 3057 3057 missense 0.61233 benign, possibly damaging, probably damaging 0.07 deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000687351,pubmed:25394175,ClinVar:RCV000166134 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781434 13q13.1 13 32380058 T G F V 3057 3057 missense 0.959 possibly damaging, probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129327 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80359173 13q13.1 13 32380061 A G S G 3058 3058 missense 0.0195 benign 0.245 tolerated, tolerated - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114058,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045736 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80359174 13q13.1 13 32380064 A G K E 3059 3059 missense 0.019 benign 0.265 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359174 13q13.1 13 32380064 A G K E 3059 3059 missense 0.043 benign 0.045 deleterious, tolerated - low confidence 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114059 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs201561974 13q13.1 13 32380066 A C K N 3059 3059 missense 0.1455 benign 0.11 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031801,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000807864,pubmed:25394175,ClinVar:RCV000166162 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs201561974 13q13.1 13 32380066 A C K N 3059 3059 missense 0.2465 benign 0.01 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659750 13q13.1 13 32380068 T G F C 3060 3060 missense 0.7095 possibly damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222844 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359175 13q13.1 13 32380071 T G L * 3061 3061 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257463 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359175 13q13.1 13 32380071 T A L * 3061 3061 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114061,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045739,pubmed:25394175,ClinVar:RCV000162941 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566253579 13q13.1 13 32380073 G A D N 3062 3062 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777619 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80359176 13q13.1 13 32380076 C T P S 3063 3063 missense 0.215 benign 0.04333 deleterious, deleterious - low confidence, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114062,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045740 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359176 13q13.1 13 32380076 C T P S 3063 3063 missense 0.676 possibly damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794614 13q13.1 13 32380080 A G D G 3064 3064 missense 0.29867 benign, possibly damaging 0.13 tolerated, tolerated - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359177 13q13.1 13 32380079 G A D N 3064 3064 missense 0.901 possibly damaging 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045742 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359177 13q13.1 13 32380079 G T D Y 3064 3064 missense 0.549 benign, probably damaging 0.115 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114063,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045743,pubmed:25394175,ClinVar:RCV000129844 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359177 13q13.1 13 32380079 G T D Y 3064 3064 missense 0.939 possibly damaging, probably damaging 0.015 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288546 13q13.1 13 32380082 T G F V 3065 3065 missense 0.89867 possibly damaging, probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567520 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359180 13q13.1 13 32380085 C T Q * 3066 3066 stop gained 0 Hereditary cancer-predisposing syndrome MIM:604370,MIM:612555,MIM:605724,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000210196,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077463,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000009941,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000257912,pubmed:25394175,ClinVar:RCV000131052 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359180 13q13.1 13 32380085 C G Q E 3066 3066 missense 0.254 benign 0.05 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114064 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs745758977 13q13.1 13 32380087 G C Q H 3066 3066 missense 0.36967 benign, probably damaging 0.07 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000694356,pubmed:25394175,ClinVar:RCV000563822 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359180 13q13.1 13 32380085 C A Q K 3066 3066 missense 0.436 benign 0.04 deleterious - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000233608 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,gnomAD rs769635024 13q13.1 13 32380088 C T P S 3067 3067 missense 0.855 possibly damaging, probably damaging 0.03333 deleterious, deleterious - low confidence, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359183 13q13.1 13 32380096 T A C * 3069 3069 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114065 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782091 13q13.1 13 32380095 G T C F 3069 3069 missense 0.576 benign, possibly damaging 0.095 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205419,pubmed:25394175,ClinVar:RCV000130600 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122611 13q13.1 13 32380094 T G C G 3069 3069 missense 0.51867 benign, possibly damaging, probably damaging 0.01333 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077035,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700869,pubmed:25394175,ClinVar:RCV000167063 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122611 13q13.1 13 32380094 T C C R 3069 3069 missense 0.882 possibly damaging, probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167488 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782091 13q13.1 13 32380095 G A C Y 3069 3069 missense 0.052 benign 0.135 tolerated, tolerated - low confidence 0 Cancer of the pancreas ClinVar:RCV000677843 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs747837583 13q13.1 13 32380098 C G S C 3070 3070 missense 0.061 benign 0.02 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216286 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs747837583 13q13.1 13 32380098 C T S F 3070 3070 missense 0.86933 possibly damaging, probably damaging 0.00333 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000554071,pubmed:25394175,ClinVar:RCV000166326 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288554 13q13.1 13 32380097 T C S P 3070 3070 missense 0.78333 possibly damaging 0.02333 deleterious, deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563493 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359184 13q13.1 13 32380102 G T E D 3071 3071 missense 0.994 probably damaging 0.0 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80359184 13q13.1 13 32380102 G T E D 3071 3071 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359185 13q13.1 13 32380104 T A V E 3072 3072 missense 0.9935 probably damaging 0.0 deleterious, deleterious - low confidence 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114067 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359186 13q13.1 13 32380107 A G D G 3073 3073 missense 1.0 probably damaging 0.0 deleterious, deleterious - low confidence 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077464,ClinVar:RCV000765143,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765143,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765143,ClinVar:RCV000765143,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045750,pubmed:25394175,ClinVar:RCV000130237,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765143,ClinVar:RCV000765143,ClinVar:RCV000765143,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765143 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658262 13q13.1 13 32380106 G T D Y 3073 3073 missense 1.0 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220645 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359187 13q13.1 13 32380116 G A G E 3076 3076 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216816 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359187 13q13.1 13 32380116 G T G V 3076 3076 missense 1.0 probably damaging 0.0 deleterious, deleterious - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114070,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472340 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80359187 13q13.1 13 32380116 G T G V 3076 3076 missense 1.0 probably damaging 0.03 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288568 13q13.1 13 32380118 T C F L 3077 3077 missense 0.086 benign 0.175 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563863 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555288570 13q13.1 13 32380119 T A F Y 3077 3077 missense 0.07133 benign 0.24667 deleterious, tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579931 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55933907 13q13.1 13 32380124 G T V F 3079 3079 5.99E-4 missense 0.8405 possibly damaging, probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55933907 13q13.1 13 32380124 G T V F 3079 3079 5.99E-4 missense 0.9755 probably damaging 0.01 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs55933907 13q13.1 13 32380124 G A V I 3079 3079 6.000000284984708E-4 missense 0.0695 benign 0.59 tolerated, tolerated - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167789 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs55933907 13q13.1 13 32380124 G A V I 3079 3079 5.99E-4 missense 0.056 benign 0.38 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs757824441 13q13.1 13 32380128 C G S C 3080 3080 missense 0.961 possibly damaging, probably damaging 0.01333 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs757824441 13q13.1 13 32380128 C T S F 3080 3080 missense 0.683 benign, probably damaging 0.05 deleterious, deleterious - low confidence, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359189 13q13.1 13 32380131 T C V A 3081 3081 missense 0.8305 possibly damaging, probably damaging 0.03 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359189 13q13.1 13 32380131 T C V A 3081 3081 missense 0.8235 possibly damaging, probably damaging 0.0 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359189 13q13.1 13 32380131 T G V G 3081 3081 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637798 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359189 13q13.1 13 32380131 T G V G 3081 3081 missense 0.9735 probably damaging 0.0 deleterious, deleterious - low confidence 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782829 13q13.1 13 32380134 T G V G 3082 3082 missense 0.688 benign, possibly damaging, probably damaging 0.02 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132410 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359190 13q13.1 13 32380136 A T K * 3083 3083 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359190 13q13.1 13 32380136 A T K * 3083 3083 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256545 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359190 13q13.1 13 32380136 A G K E 3083 3083 missense 0.281 benign, possibly damaging 0.145 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359190 13q13.1 13 32380136 A G K E 3083 3083 missense 0.6875 possibly damaging 0.015 deleterious, deleterious - low confidence 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031806,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045756,pubmed:25394175,ClinVar:RCV000221707 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359191 13q13.1 13 32380138 A T K N 3083 3083 missense 0.67333 benign, possibly damaging, probably damaging 0.02 deleterious, deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114073,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045758,pubmed:25394175,ClinVar:RCV000131342 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658793 13q13.1 13 32380137 A G K R 3083 3083 missense 0.114 benign 0.23 tolerated, tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219940 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs397507423 13q13.1 13 32380142 A C T P 3085 3085 missense 0.289 benign, possibly damaging 0.24 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507423 13q13.1 13 32380142 A C T P 3085 3085 missense 0.2885 benign, possibly damaging 0.145 deleterious - low confidence, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031807,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000557691,pubmed:25394175,ClinVar:RCV000509957 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359192 13q13.1 13 32380145 G T G * 3086 3086 missense 0.0 benign 0.05 deleterious - low confidence 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114076 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs574271678 13q13.1 13 32394689 G C G A 3086 3086 missense 0.889 possibly damaging, probably damaging 0.005 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs574271678 13q13.1 13 32394689 G A G E 3086 3086 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660803 13q13.1 13 32394691 C A L I 3087 3087 missense 0.11 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217149 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881569 13q13.1 13 32394694 G T A S 3088 3088 missense 0.1495 benign 0.19 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583352 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881569 13q13.1 13 32394694 G A A T 3088 3088 missense 0.019 benign 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs80359193 13q13.1 13 32394695 C T A V 3088 3088 missense 0.236 benign 0.02 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114083 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289499 13q13.1 13 32394698 C T P L 3089 3089 missense 0.762 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000625754,pubmed:25394175,ClinVar:RCV000584428 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs587780873 13q13.1 13 32394702 C A F L 3090 3090 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587780873 13q13.1 13 32394702 C A F L 3090 3090 missense 0.0 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000476698 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs587780873 13q13.1 13 32394702 C G F L 3090 3090 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80359194 13q13.1 13 32394703 G A V I 3091 3091 missense 0.067 benign 0.045 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165867 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs80359194 13q13.1 13 32394703 G A V I 3091 3091 missense 0.007 benign 0.06 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359197 13q13.1 13 32394708 T G Y * 3092 3092 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114085 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359195 13q13.1 13 32394707 A G Y C 3092 3092 missense 1.0 probably damaging 0.02 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077466 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359195 13q13.1 13 32394707 A G Y C 3092 3092 missense 0.961 probably damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359195 13q13.1 13 32394707 A T Y F 3092 3092 missense 0.997 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359195 13q13.1 13 32394707 A T Y F 3092 3092 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077039,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000560384,pubmed:25394175,ClinVar:RCV000167271 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566258803 13q13.1 13 32394706 T C Y H 3092 3092 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000694989 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359195 13q13.1 13 32394707 A C Y S 3092 3092 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077465,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045773,pubmed:25394175,ClinVar:RCV000569862 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359195 13q13.1 13 32394707 A C Y S 3092 3092 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786204283 13q13.1 13 32394713 C G S * 3094 3094 stop gained 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000257915 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359198 13q13.1 13 32394717 C A D E 3095 3095 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239130,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000812850 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359198 13q13.1 13 32394717 C G D E 3095 3095 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223197 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502443 13q13.1 13 32394716 A G D G 3095 3095 missense 0.993 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359199 13q13.1 13 32394718 G T E * 3096 3096 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114086 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80359199 13q13.1 13 32394718 G T E * 3096 3096 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359199 13q13.1 13 32394718 G A E K 3096 3096 missense 0.057 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000527692,pubmed:25394175,ClinVar:RCV000580932 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs80359199 13q13.1 13 32394718 G A E K 3096 3096 missense 0.058 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508044 13q13.1 13 32394723 T A C * 3097 3097 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000661690 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881570 13q13.1 13 32394722 G A C Y 3097 3097 missense 0.024 benign 0.25 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206642 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359200 13q13.1 13 32394726 C G Y * 3098 3098 stop gained 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:604370,MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000210096,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031812,ClinVar:RCV000763331,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000465472,ClinVar:RCV000763331,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763331,ClinVar:RCV000763331,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045784,pubmed:25394175,ClinVar:RCV000131041,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763331,ClinVar:RCV000763331,ClinVar:RCV000763331,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763331 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359200 13q13.1 13 32394726 C A Y * 3098 3098 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031811,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496360 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs41293521 13q13.1 13 32394724 T C Y H 3098 3098 missense 0.001 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs41293521 13q13.1 13 32394724 T C Y H 3098 3098 3.99E-4 missense 0.001 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289516 13q13.1 13 32394727 A G N D 3099 3099 missense 0.023 benign 0.08 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568569 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881571 13q13.1 13 32394728 A G N S 3099 3099 missense 0.132 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000794362 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs777943992 13q13.1 13 32394731 T C L S 3100 3100 missense 0.928 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs28897758 13q13.1 13 32394734 T C L P 3101 3101 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000198262 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs28897758 13q13.1 13 32394734 T C L P 3101 3101 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs28897758 13q13.1 13 32394734 T A L Q 3101 3101 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs28897758 13q13.1 13 32394734 T G L R 3101 3101 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs28897758 13q13.1 13 32394734 T G L R 3101 3101 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs80359202 13q13.1 13 32394733 C G L V 3101 3101 missense 0.996 probably damaging 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80359202 13q13.1 13 32394733 C G L V 3101 3101 missense 0.5895 benign, probably damaging 0.455 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114087,pubmed:25394175,ClinVar:RCV000509687 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs747073940 13q13.1 13 32394736 G A A T 3102 3102 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000548354,pubmed:25394175,ClinVar:RCV000562297 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359204 13q13.1 13 32394741 A G I M 3103 3103 missense 0.972 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114088,pubmed:25394175,ClinVar:RCV000509809 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359203 13q13.1 13 32394739 A G I V 3103 3103 missense 0.102 benign 0.42 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077468,pubmed:25394175,ClinVar:RCV000162720 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289521 13q13.1 13 32394742 A T K * 3104 3104 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574188 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs956554593 13q13.1 13 32394743 A G K R 3104 3104 missense 0.098 benign 0.12 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000461266,pubmed:25394175,ClinVar:RCV000563366 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs771203198 13q13.1 13 32394750 G A W * 3106 3106 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256794,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000526753,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240700 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359205 13q13.1 13 32394749 G A W * 3106 3106 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:114480,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114090,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000585639,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496936 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs771203198 13q13.1 13 32394750 G C W C 3106 3106 missense 0.9985 probably damaging 0.025 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507425 13q13.1 13 32394752 T C I T 3107 3107 missense 0.454 benign, possibly damaging 0.73 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031814,pubmed:25394175,ClinVar:RCV000164259 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs879255336 13q13.1 13 32394751 A G I V 3107 3107 missense 0.036 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000238638 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs397508047 13q13.1 13 32394763 G T E * 3111 3111 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397508047 13q13.1 13 32394763 G T E * 3111 3111 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241167,pubmed:25394175,ClinVar:RCV000130826 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs397508047 13q13.1 13 32394763 G A E K 3111 3111 missense 0.979 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs397508047 13q13.1 13 32394763 G A E K 3111 3111 missense 0.993 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214353 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1060502469 13q13.1 13 32394767 A G D G 3112 3112 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467665,pubmed:25394175,ClinVar:RCV000775817 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs759851035 13q13.1 13 32394766 G A D N 3112 3112 missense 0.7005 benign, probably damaging 0.035 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000525864,pubmed:25394175,ClinVar:RCV000580977 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs770003991 13q13.1 13 32394770 T C I T 3113 3113 missense 0.5085 benign, probably damaging 0.045 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000735624,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000411698,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168350,pubmed:25394175,ClinVar:RCV000166690 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566258935 13q13.1 13 32394769 A G I V 3113 3113 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709340 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289545 13q13.1 13 32394772 A T I F 3114 3114 missense 0.856 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509902 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1298195804 13q13.1 13 32394774 T G I M 3114 3114 missense 0.55 benign, possibly damaging 0.07 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs276174923 13q13.1 13 32394776 A G K R 3115 3115 missense 0.069 benign 0.06 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114092,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045795,pubmed:25394175,ClinVar:RCV000223579 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1220080934 13q13.1 13 32394779 C A P H 3116 3116 missense 0.202 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574097 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1220080934 13q13.1 13 32394779 C G P R 3116 3116 missense 0.82 possibly damaging 0.09 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359206 13q13.1 13 32394782 A C H P 3117 3117 missense 0.4635 benign, probably damaging 0.245 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114093 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359206 13q13.1 13 32394782 A G H R 3117 3117 missense 0.3965 benign, possibly damaging 0.365 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000698559,pubmed:25394175,ClinVar:RCV000219723 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289559 13q13.1 13 32394786 G A M I 3118 3118 missense 0.005 benign 0.44 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000799670 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566258951 13q13.1 13 32394784 A C M L 3118 3118 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704295 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs56204128 13q13.1 13 32394785 T G M R 3118 3118 missense 0.173 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs56204128 13q13.1 13 32394785 T C M T 3118 3118 missense 0.086 benign 0.73 tolerated 0 Hereditary cancer-predisposing syndrome MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:25394175,ClinVar:RCV000131368 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359207 13q13.1 13 32394788 T G L * 3119 3119 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114094 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359207 13q13.1 13 32394788 T A L * 3119 3119 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256908,pubmed:25394175,ClinVar:RCV000215065 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289562 13q13.1 13 32394789 A C L F 3119 3119 missense 0.5385 benign, probably damaging 0.125 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580636 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1234300873 13q13.1 13 32394794 C G A G 3121 3121 missense 0.517 benign, possibly damaging 0.005 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs571971903 13q13.1 13 32394797 C A A E 3122 3122 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637328 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs571971903 13q13.1 13 32394797 C G A G 3122 3122 missense 0.5855 benign, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579863 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs587782313 13q13.1 13 32394796 G C A P 3122 3122 missense 0.996 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782313 13q13.1 13 32394796 G C A P 3122 3122 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000581025 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs587782313 13q13.1 13 32394796 G A A T 3122 3122 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782313 13q13.1 13 32394796 G A A T 3122 3122 missense 0.928 possibly damaging, probably damaging 0.005 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs571971903 13q13.1 13 32394797 C T A V 3122 3122 missense 0.556 benign, probably damaging 0.085 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205376,pubmed:25394175,ClinVar:RCV000570908 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,dbSNP,gnomAD rs80359208 13q13.1 13 32394799 A G S G 3123 3123 missense 0.995 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114097,pubmed:25394175,ClinVar:RCV000165396 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781901 13q13.1 13 32394801 C A S R 3123 3123 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130239 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs28897759 13q13.1 13 32394803 A T N I 3124 3124 missense 1.0 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs28897759 13q13.1 13 32394803 A T N I 3124 3124 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:114480,MIM:612555,MIM:604370 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031816,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045802 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1420566833 13q13.1 13 32394804 C A N K 3124 3124 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000540722 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs28897759 13q13.1 13 32394803 A G N S 3124 3124 missense 0.993 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs28897759 13q13.1 13 32394803 A G N S 3124 3124 missense 0.993 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289566 13q13.1 13 32394805 C T L F 3125 3125 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359209 13q13.1 13 32394806 T A L H 3125 3125 missense 0.999 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114098 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359210 13q13.1 13 32394808 C T Q * 3126 3126 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114100,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045805,pubmed:25394175,ClinVar:RCV000576119 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs397507426 13q13.1 13 32394809 A T Q L 3126 3126 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000772567 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507426 13q13.1 13 32394809 A C Q P 3126 3126 missense 0.956 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000562173 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507426 13q13.1 13 32394809 A G Q R 3126 3126 missense 0.611 benign, possibly damaging 0.015 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031817,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000707733,pubmed:25394175,ClinVar:RCV000165487 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359211 13q13.1 13 32394812 G A W * 3127 3127 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031818,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000781092,pubmed:25394175,ClinVar:RCV000131047 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876661242 13q13.1 13 32394813 G A W * 3127 3127 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256847,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229281,pubmed:25394175,ClinVar:RCV000568965 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359212 13q13.1 13 32394814 C T R * 3128 3128 stop gained 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 ClinVar:RCV000735625,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077469,ClinVar:RCV000763332,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000474912,ClinVar:RCV000763332,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000763332,ClinVar:RCV000763332,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045807,pubmed:25394175,ClinVar:RCV000131048,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000763332,ClinVar:RCV000763332,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240732,ClinVar:RCV000763332,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000763332 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507427 13q13.1 13 32394815 G A R Q 3128 3128 missense 0.644 benign, probably damaging 0.16 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031819,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000705810,pubmed:25394175,ClinVar:RCV000130023 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80359213 13q13.1 13 32394817 C G P A 3129 3129 missense 0.186 benign 0.065 deleterious, tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114102 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80359213 13q13.1 13 32394817 C T P S 3129 3129 missense 0.425 benign, possibly damaging 0.505 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031820,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000823907,pubmed:25394175,ClinVar:RCV000773159 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122613 13q13.1 13 32394823 T C S P 3131 3131 missense 0.8935 possibly damaging, probably damaging 0.07 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077041,pubmed:25394175,ClinVar:RCV000218620 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289577 13q13.1 13 32394826 A C K Q 3132 3132 missense 0.3425 benign, possibly damaging 0.155 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509954 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782599 13q13.1 13 32394827 A G K R 3132 3132 missense 0.007 benign 0.8 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000690318,pubmed:25394175,ClinVar:RCV000131952 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659439 13q13.1 13 32394830 C T S L 3133 3133 missense 0.3025 benign, possibly damaging 0.075 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218662 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359215 13q13.1 13 32394833 G C G A 3134 3134 missense 0.001 benign 0.5 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000544353 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359215 13q13.1 13 32394833 G A G D 3134 3134 missense 0.013 benign 0.17 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561600 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359215 13q13.1 13 32394833 G T G V 3134 3134 missense 0.272 benign, possibly damaging 0.09 deleterious, tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114104,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472619 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs55704151 13q13.1 13 32394835 C T L F 3135 3135 missense 0.3415 benign, possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238693,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000705106,pubmed:25394175,ClinVar:RCV000219010 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs55704151 13q13.1 13 32394835 C A L I 3135 3135 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000820508,pubmed:25394175,ClinVar:RCV000773137 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs398122614 13q13.1 13 32394839 T C L P 3136 3136 missense 0.0 benign 1.0 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077042,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637816 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs746036918 13q13.1 13 32394841 A G T A 3137 3137 missense 0.5015 benign, probably damaging 0.04 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000216090 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs746036918 13q13.1 13 32394841 A T T S 3137 3137 missense 0.5185 benign, probably damaging 0.075 deleterious, tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040838 13q13.1 13 32394845 T G L * 3138 3138 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000256636 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1367391447 13q13.1 13 32394848 T G F C 3139 3139 missense 0.5185 benign, probably damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203511 13q13.1 13 32394850 G C A P 3140 3140 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000795517,pubmed:25394175,ClinVar:RCV000166846 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566259143 13q13.1 13 32394853 G A G R 3141 3141 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000696193 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80359216 13q13.1 13 32394857 A G D G 3142 3142 missense 0.5985 benign, probably damaging 0.005 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083159,pubmed:25394175,ClinVar:RCV000509927 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs80359216 13q13.1 13 32394857 A T D V 3142 3142 missense 0.7025 benign, probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289592 13q13.1 13 32394863 C T S F 3144 3144 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509827 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs587776476 13q13.1 13 32394865 G C V L 3145 3145 missense 0.006 benign 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587776476 13q13.1 13 32394865 G T V L 3145 3145 missense 0.001 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776684 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs587776476 13q13.1 13 32394865 G T V L 3145 3145 missense 0.006 benign 0.15 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587776476 13q13.1 13 32394865 G C V L 3145 3145 missense 0.006 benign 0.15 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000231063 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs587776476 13q13.1 13 32394865 G A V M 3145 3145 missense 0.017 benign 0.25 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000144197,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000227102,pubmed:25394175,ClinVar:RCV000217472 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs587776476 13q13.1 13 32394865 G A V M 3145 3145 missense 0.012 benign 0.57 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202000 13q13.1 13 32394869 T C F S 3146 3146 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164578 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781514 13q13.1 13 32394875 C G A G 3148 3148 missense 0.003 benign 0.05 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000510034 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs949790323 13q13.1 13 32394874 G T A S 3148 3148 missense 0.012 benign 0.21 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000470163 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs949790323 13q13.1 13 32394874 G A A T 3148 3148 missense 0.11 benign 0.155 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580146 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781514 13q13.1 13 32394875 C T A V 3148 3148 missense 0.188 benign 0.08 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695537,pubmed:25394175,ClinVar:RCV000129493 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs563889433 13q13.1 13 32394878 G C S T 3149 3149 2.0E-4 missense 0.495 benign, probably damaging 0.025 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359217 13q13.1 13 32394881 C T P L 3150 3150 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114108,pubmed:25394175,ClinVar:RCV000129332 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1481726746 13q13.1 13 32394880 C T P S 3150 3150 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359218 13q13.1 13 32394886 G T E * 3152 3152 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582913 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359219 13q13.1 13 32394887 A G E G 3152 3152 missense 0.014 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114109,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045823,pubmed:25394175,ClinVar:RCV000214951 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359218 13q13.1 13 32394886 G A E K 3152 3152 missense 0.201 benign 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359218 13q13.1 13 32394886 G A E K 3152 3152 missense 0.245 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167823,pubmed:25394175,ClinVar:RCV000165404 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359220 13q13.1 13 32394890 G C G A 3153 3153 missense 0.36 benign 0.63 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566259215 13q13.1 13 32394889 G T G C 3153 3153 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774984 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359220 13q13.1 13 32394890 G T G V 3153 3153 missense 0.414 benign, possibly damaging 0.34 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083003,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000234502,pubmed:25394175,ClinVar:RCV000166183 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359220 13q13.1 13 32394890 G T G V 3153 3153 missense 0.808 possibly damaging 0.27 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs760189451 13q13.1 13 32394892 C T H Y 3154 3154 missense 0.5295 benign, probably damaging 0.31 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637711 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs766043679 13q13.1 13 32394897 T A F L 3155 3155 missense 0.055 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174925 13q13.1 13 32394898 C T Q * 3156 3156 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114113 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786204284 13q13.1 13 32394904 A G T A 3158 3158 missense 0.003 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359221 13q13.1 13 32394909 C A F L 3159 3159 missense 0.009 benign 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221995 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359222 13q13.1 13 32394913 A T K * 3161 3161 stop gained 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114117,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496504,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000414553 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs80359222 13q13.1 13 32394913 A G K E 3161 3161 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777544 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658597 13q13.1 13 32394922 A G N D 3164 3164 missense 0.534 benign, possibly damaging 0.05 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637427,pubmed:25394175,ClinVar:RCV000218527 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401930 13q13.1 13 32394923 A T N I 3164 3164 missense 0.476 possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1135401930 13q13.1 13 32394923 A G N S 3164 3164 missense 0.231 benign, possibly damaging 0.5 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000533073 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs587782568 13q13.1 13 32394925 A G T A 3165 3165 missense 0.073 benign 0.54 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782568 13q13.1 13 32394925 A G T A 3165 3165 missense 0.001 benign 0.59 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000227216,pubmed:25394175,ClinVar:RCV000131791 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064796569 13q13.1 13 32394926 C G T S 3165 3165 missense 0.188 benign 0.22 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575840 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658721 13q13.1 13 32394929 T C V A 3166 3166 missense 0.5485 possibly damaging 0.04 deleterious, tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217879 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs398122615 13q13.1 13 32394928 G A V I 3166 3166 missense 0.015 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs398122615 13q13.1 13 32394928 G A V I 3166 3166 missense 0.061 benign 0.99 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077043,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000543406 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359223 13q13.1 13 32394932 A C E A 3167 3167 missense 0.648 possibly damaging 0.02 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114120 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359808 13q13.1 13 32394933 G C E D 3167 3167 missense 0.207 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238800,pubmed:25394175,ClinVar:RCV000582949 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1244221685 13q13.1 13 32396902 T C I T 3169 3169 missense 0.383 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000774963 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876661072 13q13.1 13 32396906 C G D E 3170 3170 missense 0.982 probably damaging 0.16 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000709341 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359224 13q13.1 13 32396905 A G D G 3170 3170 missense 0.999 probably damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000163018 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202713 13q13.1 13 32396907 A T I L 3171 3171 missense 0.03 benign 0.56 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000459037,pubmed:25394175,ClinVar:RCV000165661 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566260078 13q13.1 13 32396908 T C I T 3171 3171 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776955 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289773 13q13.1 13 32396917 A G N S 3174 3174 missense 0.033 benign 0.33 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571672 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507430 13q13.1 13 32396919 G T E * 3175 3175 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031829,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496351 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658365 13q13.1 13 32396926 A G E G 3177 3177 missense 0.378 benign 0.0 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:604370,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239286,ClinVar:RCV000765144,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765144,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765144,ClinVar:RCV000765144,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000550708,pubmed:25394175,ClinVar:RCV000222361,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765144,ClinVar:RCV000765144,ClinVar:RCV000765144,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765144 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566260108 13q13.1 13 32396932 A G K R 3179 3179 missense 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000688973,pubmed:25394175,ClinVar:RCV000776763 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs200598289 13q13.1 13 32396934 C T L F 3180 3180 1.9999999494757503E-4 missense 0.999 probably damaging 0.0 deleterious 0 Wilms tumor 1 (WT1) PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. MIM:612555,MIM:114480,MIM:605724,MIM:613029,MIM:176807,MIM:155255,MIM:613347,MIM:194070 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077472,ClinVar:RCV000765145,pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,ClinVar:RCV000765145,pubmed:14559878,pubmed:20301471,pubmed:20301575,pubmed:20301753,ClinVar:RCV000765145,ClinVar:RCV000765145,pubmed:25394175,ClinVar:RCV000165783,pubmed:19042984,pubmed:22138009,pubmed:23659877,pubmed:24071797,pubmed:25394175,ClinVar:RCV000765145,ClinVar:RCV000765145,ClinVar:RCV000765145,pubmed:15604628,pubmed:20301471,pubmed:20301534,pubmed:23788249,pubmed:25356965,pubmed:27854360,ClinVar:RCV000765145 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397507431 13q13.1 13 32396935 T C L P 3180 3180 missense 1.0 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031830,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000686669 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs80359225 13q13.1 13 32396938 T G M R 3181 3181 missense 0.049 benign 0.18 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114131,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045853,pubmed:25394175,ClinVar:RCV000219030 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566260129 13q13.1 13 32396941 A G H R 3182 3182 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689652 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs755201475 13q13.1 13 32396944 T C I T 3183 3183 missense 0.117 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 ClinVar:RCV000735628,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637697,pubmed:25394175,ClinVar:RCV000773162 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs377123889 13q13.1 13 32396943 A G I V 3183 3183 missense 0.037 benign 0.39 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129405 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224601 13q13.1 13 32396947 T C L P 3184 3184 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000197260,pubmed:25394175,ClinVar:RCV000561685 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660551 13q13.1 13 32396946 C G L V 3184 3184 missense 0.983 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221965 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786204184 13q13.1 13 32396950 A C H P 3185 3185 missense 0.086 benign 0.06 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000168240 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659245 13q13.1 13 32396955 A G N D 3187 3187 missense 0.229 benign 0.32 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223508 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782612 13q13.1 13 32396957 T A N K 3187 3187 missense 0.242 benign 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131987 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1329182873 13q13.1 13 32396956 A G N S 3187 3187 missense 0.015 benign 0.29 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695458 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1329182873 13q13.1 13 32396956 A C N T 3187 3187 missense 0.173 benign 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565559 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122616 13q13.1 13 32396960 T A D E 3188 3188 missense 0.58 possibly damaging 0.02 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077044,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000703756 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs779194753 13q13.1 13 32396959 A G D G 3188 3188 missense 0.58 possibly damaging 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469357,pubmed:25394175,ClinVar:RCV000509723 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359226 13q13.1 13 32396958 G A D N 3188 3188 missense 0.063 benign 0.36 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114132 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs779194753 13q13.1 13 32396959 A T D V 3188 3188 missense 0.928 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs772385867 13q13.1 13 32396961 C G P A 3189 3189 missense 0.029 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122617 13q13.1 13 32396969 G A W * 3191 3191 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077046,pubmed:25394175,ClinVar:RCV000509925 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508063 13q13.1 13 32396968 G A W * 3191 3191 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257532,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496523 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs398122617 13q13.1 13 32396969 G C W C 3191 3191 missense 0.01 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570986 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs397508063 13q13.1 13 32396968 G T W L 3191 3191 missense 0.113 benign 0.27 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130020 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658351 13q13.1 13 32396967 T C W R 3191 3191 missense 0.006 benign 0.21 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218164 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1353560465 13q13.1 13 32396976 C G P A 3194 3194 missense 0.998 probably damaging 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs28897760 13q13.1 13 32396977 C A P Q 3194 3194 missense 0.999 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359227 13q13.1 13 32396979 A G T A 3195 3195 missense 0.03 benign 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825376 13q13.1 13 32396980 C T T I 3195 3195 missense 0.001 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083005,pubmed:25394175,ClinVar:RCV000583198 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825376 13q13.1 13 32396980 C G T S 3195 3195 missense 0.001 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000568260 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359228 13q13.1 13 32396982 A G K E 3196 3196 missense 0.811 possibly damaging 0.02 deleterious 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000735631 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660053 13q13.1 13 32396985 G C D H 3197 3197 missense 0.913 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000795570,pubmed:25394175,ClinVar:RCV000221515 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359229 13q13.1 13 32396988 T C C R 3198 3198 missense 0.058 benign 0.35 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031835 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs587782435 13q13.1 13 32396989 G A C Y 3198 3198 missense 0.0 benign 1.0 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000411555 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359230 13q13.1 13 32396995 C G S * 3200 3200 stop gained 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1176813482 13q13.1 13 32396998 G A G E 3201 3201 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs397507432 13q13.1 13 32397001 C T P L 3202 3202 missense 0.005 benign 0.18 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031837 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289789 13q13.1 13 32397000 C T P S 3202 3202 missense 0.005 benign 0.32 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691367,pubmed:25394175,ClinVar:RCV000582090 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359231 13q13.1 13 32397006 A G T A 3204 3204 missense 0.549 possibly damaging 0.25 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114133,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045865,pubmed:25394175,ClinVar:RCV000213913 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80359232 13q13.1 13 32397007 C G T S 3204 3204 missense 0.782 possibly damaging 0.26 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114134,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045866 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs528504546 13q13.1 13 32397009 G C A P 3205 3205 2.0E-4 missense 0.109 benign 0.26 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs528504546 13q13.1 13 32397009 G A A T 3205 3205 2.0E-4 missense 0.038 benign 0.13 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,gnomAD rs546682485 13q13.1 13 32397010 C T A V 3205 3205 2.0E-4 missense 0.435 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,TOPMed,dbSNP rs80359233 13q13.1 13 32397012 C G Q E 3206 3206 missense 0.417 benign 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217224 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057520802 13q13.1 13 32397015 A T I F 3207 3207 missense 0.424 benign 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876658942 13q13.1 13 32397016 T A I N 3207 3207 missense 0.218 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000238799,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000471666,pubmed:25394175,ClinVar:RCV000219016 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs730881572 13q13.1 13 32397021 C T P S 3209 3209 missense 0.044 benign 0.19 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574119 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794491 13q13.1 13 32397024 G A G S 3210 3210 missense 0.003 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637515,pubmed:25394175,ClinVar:RCV000509791 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs730881583 13q13.1 13 32397028 C T T I 3211 3211 missense 0.732 possibly damaging 0.13 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457330,pubmed:25394175,ClinVar:RCV000775636 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs730881583 13q13.1 13 32397028 C A T K 3211 3211 missense 0.659 possibly damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000163095 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1281719451 13q13.1 13 32397031 G A G E 3212 3212 missense 0.976 probably damaging 0.28 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55775473 13q13.1 13 32397030 G C G R 3212 3212 missense 0.503 possibly damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131495 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs55775473 13q13.1 13 32397030 G A G R 3212 3212 missense 0.503 possibly damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1281719451 13q13.1 13 32397031 G T G V 3212 3212 missense 0.987 probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000528207 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359235 13q13.1 13 32397033 A G N D 3213 3213 missense 0.71 possibly damaging 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129983 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566260287 13q13.1 13 32397034 A G N S 3213 3213 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775865 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289810 13q13.1 13 32397036 A G K E 3214 3214 missense 0.996 probably damaging 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637487 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1335111231 13q13.1 13 32397038 G C K N 3214 3214 missense 0.998 probably damaging 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000538496 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289812 13q13.1 13 32397039 C T L F 3215 3215 missense 0.006 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570719 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs431825377 13q13.1 13 32397043 T C L P 3216 3216 missense 0.974 probably damaging 0.08 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000164007 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825379 13q13.1 13 32398164 G A M I 3217 3217 missense 0.0 benign 0.55 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083008,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000468886,pubmed:25394175,ClinVar:RCV000582783 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1441735974 13q13.1 13 32398163 T A M K 3217 3217 missense 0.112 benign 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203000 13q13.1 13 32398162 A C M L 3217 3217 missense 0.001 benign 0.45 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000527255,pubmed:25394175,ClinVar:RCV000166101 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203000 13q13.1 13 32398162 A G M V 3217 3217 missense 0.003 benign 0.43 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223341 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1188216651 13q13.1 13 32398166 C T S F 3218 3218 missense 0.8955 possibly damaging, probably damaging 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1419761928 13q13.1 13 32398169 C T S F 3219 3219 missense 0.955 probably damaging 0.26 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359236 13q13.1 13 32398171 C T P S 3220 3220 missense 0.651 possibly damaging 0.08 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114149 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1476681505 13q13.1 13 32398175 A C N T 3221 3221 missense 0.225 benign 0.26 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637695 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC rs374321381 13q13.1 13 32398183 A T I L 3224 3224 missense 0.003 benign 0.56 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566260766 13q13.1 13 32398184 T C I T 3224 3224 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777523 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP rs374321381 13q13.1 13 32398183 A G I V 3224 3224 missense 0.057 benign 0.63 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083009,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000694085 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs397507434 13q13.1 13 32398186 T C Y H 3225 3225 missense 0.087 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs80359237 13q13.1 13 32398190 A G Y C 3226 3226 missense 0.003 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165822 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs751884206 13q13.1 13 32398189 T C Y H 3226 3226 missense 0.583 possibly damaging 0.19 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1408001886 13q13.1 13 32398192 C G Q E 3227 3227 missense 0.417 benign 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776896 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs878853620 13q13.1 13 32398199 C T P L 3229 3229 missense 0.882 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000234049 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793542 13q13.1 13 32398198 C T P S 3229 3229 missense 0.82 possibly damaging 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000700622 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP,gnomAD rs80359238 13q13.1 13 32398203 A T L F 3230 3230 missense 0.962 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114154,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045886,pubmed:25394175,ClinVar:RCV000131275 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1476814134 13q13.1 13 32398202 T C L S 3230 3230 missense 0.193 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000692927,pubmed:25394175,ClinVar:RCV000563043 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566260824 13q13.1 13 32398204 T C S P 3231 3231 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000771732 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs398122620 13q13.1 13 32398211 G T C F 3233 3233 missense 0.529 possibly damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289917 13q13.1 13 32398210 T C C R 3233 3233 missense 0.009 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580119 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122620 13q13.1 13 32398211 G A C Y 3233 3233 missense 0.065 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077049,pubmed:25394175,ClinVar:RCV000509832 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566260847 13q13.1 13 32398215 G A M I 3234 3234 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000771733 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs730881574 13q13.1 13 32398213 A G M V 3234 3234 missense 0.021 benign 0.3 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000552490,pubmed:25394175,ClinVar:RCV000568321 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566260850 COSM4167046 13q13.1 13 32398216 G A A T 3235 3235 missense 0.011 benign 0.13 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773811 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359239 13q13.1 13 32398219 A G K E 3236 3236 missense 0.755 possibly damaging 0.08 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114155 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881575 13q13.1 13 32398223 G A R K 3237 3237 missense 0.013 benign 0.72 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000530914,pubmed:25394175,ClinVar:RCV000166335 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289926 13q13.1 13 32398228 T C S P 3239 3239 missense 0.009 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000575147 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,dbSNP,gnomAD rs779728869 COSM946883 13q13.1 13 32398229 C A S Y 3239 3239 missense 0.854 possibly damaging, probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165378 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566260882 13q13.1 13 32398232 T G V G 3240 3240 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80359240 13q13.1 13 32398231 G A V I 3240 3240 missense 0.19 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000114156,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045890,pubmed:25394175,ClinVar:RCV000165570 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,NCI-TCGA,dbSNP rs398122621 13q13.1 13 32398235 C G S C 3241 3241 missense 0.471 benign, probably damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077050,pubmed:25394175,ClinVar:RCV000216813 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768210077 13q13.1 13 32398238 C T T I 3242 3242 missense 0.193 benign 0.28 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229017 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1266232125 13q13.1 13 32398237 A C T P 3242 3242 missense 0.962 probably damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566260898 13q13.1 13 32398240 C G P A 3243 3243 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773631 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359241 13q13.1 13 32398241 C T P L 3243 3243 missense 0.999 probably damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11571831 13q13.1 13 32398243 G T V F 3244 3244 missense 0.258 benign 0.71 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031846,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467527,pubmed:25394175,ClinVar:RCV000216607 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs11571831 13q13.1 13 32398243 G A V I 3244 3244 0.006800000090152025 missense 0.001 benign 0.52 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167853,pubmed:25394175,ClinVar:RCV000128917 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11571831 13q13.1 13 32398243 G C V L 3244 3244 missense 0.031 benign 0.73 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000545809,pubmed:25394175,ClinVar:RCV000581623 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289934 13q13.1 13 32398246 T G S A 3245 3245 missense 0.015 benign 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509772 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1555289937 13q13.1 13 32398250 C G A G 3246 3246 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000705460 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289936 13q13.1 13 32398249 G A A T 3246 3246 missense 0.038 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563810 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289937 13q13.1 13 32398250 C T A V 3246 3246 missense 0.038 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637620,pubmed:25394175,ClinVar:RCV000584091 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040849 13q13.1 13 32398252 C T Q * 3247 3247 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257474 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224602 13q13.1 13 32398257 G A M I 3248 3248 missense 0.0 benign 0.47 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000199137 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659778 13q13.1 13 32398255 A C M L 3248 3248 missense 0.001 benign 0.26 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215117 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289943 13q13.1 13 32398259 C T T I 3249 3249 missense 0.999 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000662591,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637585,pubmed:25394175,ClinVar:RCV000584682 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1173590589 13q13.1 13 32398261 T G S A 3250 3250 missense 0.237 benign 0.19 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1173590589 13q13.1 13 32398261 T A S T 3250 3250 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1466044420 13q13.1 13 32398264 A G K E 3251 3251 missense 0.014 benign 0.05 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs730881576 13q13.1 13 32398266 G T K N 3251 3251 missense 0.607 possibly damaging 0.01 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502467 13q13.1 13 32398267 T C S P 3252 3252 missense 0.998 probably damaging 0.05 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000467873 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1377745229 13q13.1 13 32398272 T G C W 3253 3253 missense 0.947 probably damaging 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs786202698 13q13.1 13 32398271 G A C Y 3253 3253 missense 0.859 possibly damaging 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165636 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP rs764208320 13q13.1 13 32398276 G A G R 3255 3255 missense 0.079 benign 0.05 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000530019,pubmed:25394175,ClinVar:RCV000509873 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1198621190 13q13.1 13 32398280 A G E G 3256 3256 missense 0.936 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289952 13q13.1 13 32398279 G A E K 3256 3256 missense 0.765 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000583110 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs55847618 13q13.1 13 32398283 A G K R 3257 3257 missense 0.995 probably damaging 0.33 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129187 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289957 13q13.1 13 32398290 T G I M 3259 3259 missense 0.065 benign 0.39 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255305 13q13.1 13 32398289 T C I T 3259 3259 missense 0.015 benign 0.56 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239100 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566261010 13q13.1 13 32398297 C G Q E 3262 3262 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773848 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566261012 COSM4047106 13q13.1 13 32398298 A C Q P 3262 3262 missense 0.001 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773733 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289960 13q13.1 13 32398302 G T K N 3263 3263 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637782 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781543 13q13.1 13 32398306 T G C G 3265 3265 missense 0.653 possibly damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000580455 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781543 13q13.1 13 32398306 T C C R 3265 3265 missense 0.9 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129557 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658795 13q13.1 13 32398308 C G C W 3265 3265 missense 0.982 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000218109 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs1323152399 13q13.1 13 32398313 A G K R 3267 3267 missense 0.022 benign 0.1 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289964 13q13.1 13 32398318 A G R G 3269 3269 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582462 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359243 13q13.1 13 32398319 G A R K 3269 3269 missense 0.99 probably damaging 0.31 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112811,pubmed:25394175,ClinVar:RCV000773279 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359243 13q13.1 13 32398319 G C R T 3269 3269 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000221856 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs397507436 13q13.1 13 32398325 T C L S 3271 3271 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031847,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000457079,pubmed:25394175,ClinVar:RCV000130205 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs56111359 13q13.1 13 32398329 T G D E 3272 3272 missense 0.997 probably damaging 0.09 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112813,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045900 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80359244 13q13.1 13 32398333 T G L V 3274 3274 missense 0.863 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112814,pubmed:25394175,ClinVar:RCV000222518 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs431825380 13q13.1 13 32398334 T G L W 3274 3274 missense 0.976 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083010,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000477120,pubmed:25394175,ClinVar:RCV000131538 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs864622720 13q13.1 13 32398337 G A S N 3275 3275 missense 0.845 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206111 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289967 13q13.1 13 32398340 G A R K 3276 3276 missense 0.42 benign 0.05 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000625755 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359245 13q13.1 13 32398341 A T R S 3276 3276 missense 0.438 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112815,pubmed:25394175,ClinVar:RCV000564446 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs768039420 13q13.1 13 32398346 C T P L 3278 3278 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768039420 13q13.1 13 32398346 C G P R 3278 3278 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569628 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040852 13q13.1 13 32398349 T A L * 3279 3279 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257096 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs886040852 13q13.1 13 32398349 T C L S 3279 3279 missense 0.945 probably damaging 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359246 13q13.1 13 32398352 C A P H 3280 3280 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130774 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs80359246 13q13.1 13 32398352 C T P L 3280 3280 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359246 13q13.1 13 32398352 C G P R 3280 3280 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000704666 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs55835607 13q13.1 13 32398351 C T P S 3280 3280 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045903,pubmed:25394175,ClinVar:RCV000509955 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587778127 13q13.1 13 32398366 C T P S 3285 3285 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000817796,pubmed:25394175,ClinVar:RCV000571496 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587778127 13q13.1 13 32398366 C A P T 3285 3285 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs398122624 13q13.1 13 32398370 T A I N 3286 3286 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077053,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000537252,pubmed:25394175,ClinVar:RCV000164700 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs398122624 13q13.1 13 32398370 T C I T 3286 3286 missense 0.997 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566261093 13q13.1 13 32398369 A G I V 3286 3286 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777068 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs754588394 13q13.1 13 32398376 C T T I 3288 3288 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195499,pubmed:25394175,ClinVar:RCV000220666 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064794931 13q13.1 13 32398379 T G F C 3289 3289 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289980 13q13.1 13 32398378 T C F L 3289 3289 missense 0.99 probably damaging 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs747850861 13q13.1 13 32398382 T C V A 3290 3290 missense 0.993 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs200210279 13q13.1 13 32398385 C G S C 3291 3291 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000122939,pubmed:25394175,ClinVar:RCV000129292 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs56121817 13q13.1 13 32398388 C T P L 3292 3292 missense 0.999 probably damaging 0.04 deleterious 0 Fanconi anemia (FA) Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. MIM:227650 pubmed:18197057,pubmed:19888064,pubmed:20301575,ClinVar:RCV000301085 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,TOPMed,gnomAD rs56121817 13q13.1 13 32398388 C A P Q 3292 3292 2.0E-4 missense 1.0 probably damaging 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660917 13q13.1 13 32398387 C T P S 3292 3292 missense 0.999 probably damaging 0.05 deleterious 0 Rhabdomyosarcoma pubmed:25394175,ClinVar:RCV000221927,ClinVar:RCV000415428 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359247 13q13.1 13 32398396 C T Q * 3295 3295 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112819,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000496879 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1346315597 13q13.1 13 32398397 A C Q P 3295 3295 missense 0.826 possibly damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000812510 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359248 13q13.1 13 32398403 C G A G 3297 3297 missense 0.997 probably damaging 0.0 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112820 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289995 13q13.1 13 32398402 G C A P 3297 3297 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000557909 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289997 13q13.1 13 32398408 C T Q * 3299 3299 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000536354 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs398122625 13q13.1 13 32398409 A C Q P 3299 3299 missense 0.996 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes rs544677125 13q13.1 13 32398412 C A P Q 3300 3300 2.0E-4 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs770868371 13q13.1 13 32398411 C T P S 3300 3300 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 ClinVar:RCV000770738,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637357 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs770868371 13q13.1 13 32398411 C A P T 3300 3300 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215835 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289999 13q13.1 13 32398415 C T P L 3301 3301 missense 0.936 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000579974 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555289999 13q13.1 13 32398415 C G P R 3301 3301 missense 0.919 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563400 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566261153 13q13.1 13 32398414 C T P S 3301 3301 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs762935810 13q13.1 13 32398417 A G R G 3302 3302 missense 0.845 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000222831 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80359249 13q13.1 13 32398418 G A R K 3302 3302 missense 0.094 benign 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083164,pubmed:25394175,ClinVar:RCV000509696 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203842 13q13.1 13 32398419 G T R S 3302 3302 missense 0.8 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000167326 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174930 13q13.1 13 32398420 A T S C 3303 3303 missense 0.843 possibly damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112821,pubmed:25394175,ClinVar:RCV000167325 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658506 13q13.1 13 32398424 G A C Y 3304 3304 missense 0.913 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000551258,pubmed:25394175,ClinVar:RCV000223068 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881577 13q13.1 13 32398427 G A G D 3305 3305 missense 0.037 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773221 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782859 13q13.1 13 32398426 G A G S 3305 3305 missense 0.062 benign 0.04 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000692801,pubmed:25394175,ClinVar:RCV000132478 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs762145450 13q13.1 13 32398429 A G T A 3306 3306 missense 0.287 benign 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359250 13q13.1 13 32398430 C T T I 3306 3306 missense 0.462 possibly damaging 0.2 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112822,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045913 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359250 13q13.1 13 32398430 C A T N 3306 3306 missense 0.462 possibly damaging 0.16 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570880 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290003 13q13.1 13 32398432 A T K * 3307 3307 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564455 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs879255304 13q13.1 13 32398433 A C K T 3307 3307 missense 0.998 probably damaging 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000239351 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs4987049 13q13.1 13 32398437 C G Y * 3308 3308 stop gained -1.0 unknown -1.0 unknown 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 ClinVar:RCV000768644,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077479,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000045914,pubmed:25394175,ClinVar:RCV000131045 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs4987049 13q13.1 13 32398437 C A Y * 3308 3308 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000257043 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs750818430 13q13.1 13 32398435 T A Y N 3308 3308 missense 0.005 benign 0.09 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80359251 13q13.1 13 32398438 G T E * 3309 3309 stop gained 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000735634 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795880 13q13.1 13 32398439 A G E G 3309 3309 missense 0.998 probably damaging 0.17 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs80359251 13q13.1 13 32398438 G A E K 3309 3309 missense 0.996 probably damaging 0.13 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000195387 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064795880 13q13.1 13 32398439 A T E V 3309 3309 missense 0.999 probably damaging 0.03 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000525127 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1060502416 13q13.1 13 32398445 C A P H 3311 3311 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502416 13q13.1 13 32398445 C T P L 3311 3311 missense 0.999 probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000469709 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1060502416 13q13.1 13 32398445 C G P R 3311 3311 missense 0.999 probably damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1275047772 13q13.1 13 32398444 C T P S 3311 3311 missense 0.999 probably damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000574644 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1275047772 13q13.1 13 32398444 C A P T 3311 3311 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1287470353 13q13.1 13 32398448 T A I K 3312 3312 missense 0.025 benign 0.21 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359255 13q13.1 13 32398449 A G I M 3312 3312 missense 0.046 benign 0.28 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112826,pubmed:25394175,ClinVar:RCV000165864 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80359254 13q13.1 13 32398447 A G I V 3312 3312 missense 0.108 benign 0.41 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573263 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs876661063 13q13.1 13 32398450 A G K E 3313 3313 missense 0.995 probably damaging 0.03 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1235811079 13q13.1 13 32398453 A G K E 3314 3314 missense 0.557 possibly damaging 0.04 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000698238 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502464 13q13.1 13 32398455 A C K N 3314 3314 missense 0.849 possibly damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000468326 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566261206 13q13.1 13 32398454 A G K R 3314 3314 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs876659263 13q13.1 13 32398457 A G K R 3315 3315 missense 0.725 possibly damaging 0.3 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs876659263 13q13.1 13 32398457 A C K T 3315 3315 missense 0.892 possibly damaging 0.17 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000213888 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs758051959 13q13.1 13 32398459 G T E * 3316 3316 stop gained 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000241160 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290010 13q13.1 13 32398460 A T E V 3316 3316 missense 0.876 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000813529,pubmed:25394175,ClinVar:RCV000579426 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566261221 13q13.1 13 32398463 T A L Q 3317 3317 missense 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80359256 13q13.1 13 32398465 A C N H 3318 3318 missense 0.974 probably damaging 0.05 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000083165,pubmed:25394175,ClinVar:RCV000165163 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502409 13q13.1 13 32398466 A G N S 3318 3318 missense 0.741 possibly damaging 0.32 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000464291 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs778694116 13q13.1 13 32398469 C T S F 3319 3319 missense 0.018 benign 0.54 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000815048,pubmed:25394175,ClinVar:RCV000165317 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,gnomAD rs778694116 COSM279202 13q13.1 13 32398469 C A S Y 3319 3319 missense 0.2605 benign, possibly damaging 0.38 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1300220263 13q13.1 13 32398471 C T P S 3320 3320 missense 0.039 benign 0.05 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000565180 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566261240 13q13.1 13 32398474 C T Q * 3321 3321 stop gained 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000689956 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11571833 13q13.1 13 32398489 A T K * 3326 3326 stop gained 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000735635 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1446054495 13q13.1 13 32398490 A T K I 3326 3326 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1446054495 13q13.1 13 32398490 A C K T 3326 3326 missense 0.998 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564399 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782098 13q13.1 13 32398494 A T K N 3327 3327 missense 0.892 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130611 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs770826575 13q13.1 13 32398496 T G F C 3328 3328 missense 0.487 possibly damaging 0.15 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582534 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs76635144 13q13.1 13 32398499 A G N S 3329 3329 missense 0.007 benign 0.59 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,gnomAD rs76635144 13q13.1 13 32398499 A C N T 3329 3329 missense 0.079 benign 0.02 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057520433 13q13.1 13 32398503 A C E D 3330 3330 missense 0.089 benign 0.66 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000571359 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658246 13q13.1 13 32398508 C G S C 3332 3332 missense 0.044 benign 0.07 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658246 COSM946887 13q13.1 13 32398508 C A S Y 3332 3332 missense 0.8195 possibly damaging, probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000219856 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290016 13q13.1 13 32398511 T C L P 3333 3333 missense 0.084 benign 0.17 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509922 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP,gnomAD rs567476314 13q13.1 13 32398510 C G L V 3333 3333 missense 0.782 possibly damaging 0.12 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566261306 13q13.1 13 32398515 G T L F 3334 3334 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773998 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,gnomAD rs1311718055 13q13.1 13 32398519 A G S G 3336 3336 missense 0.64 possibly damaging 0.25 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587781714 13q13.1 13 32398520 G C S T 3336 3336 missense 0.99 probably damaging 0.09 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129892 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290018 13q13.1 13 32398522 A G N D 3337 3337 missense 0.033 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000561403 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs768567428 13q13.1 13 32398528 A G I V 3339 3339 missense 0.014 benign 0.44 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000564070 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs919415219 13q13.1 13 32398531 G A A T 3340 3340 missense 0.757 possibly damaging 0.08 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs113507014 13q13.1 13 32398536 C A D E 3341 3341 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000465198 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202073 13q13.1 13 32398535 A G D G 3341 3341 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000559276,pubmed:25394175,ClinVar:RCV000164705 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs28897761 13q13.1 13 32398537 G T E * 3342 3342 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000129731 P51587 BRCA2 Breast cancer type 2 susceptibility protein NCI-TCGA,TOPMed,dbSNP,gnomAD rs28897761 COSM1677596 13q13.1 13 32398537 G A E K 3342 3342 missense 0.996 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000463710 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs772432857 13q13.1 13 32398541 A T E V 3343 3343 missense 0.999 probably damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660701 13q13.1 13 32398544 T C L P 3344 3344 missense 0.972 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000223440 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs377155248 13q13.1 13 32398543 C G L V 3344 3344 missense 0.725 possibly damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000229862,pubmed:25394175,ClinVar:RCV000221416 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,dbSNP rs546597661 13q13.1 13 32398546 G A A T 3345 3345 missense 0.999 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130146 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659219 13q13.1 13 32398554 A G I M 3347 3347 missense 0.998 probably damaging 0.01 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214506 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs587782373 13q13.1 13 32398553 T C I T 3347 3347 missense 0.997 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000816199,pubmed:25394175,ClinVar:RCV000131359 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs761094613 13q13.1 13 32398556 A G N S 3348 3348 missense 0.995 probably damaging 0.08 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000196085 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358387 13q13.1 13 32398558 A G T A 3349 3349 missense 0.995 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000163020 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502468 13q13.1 13 32398563 A C Q H 3350 3350 missense 0.998 probably damaging 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000472420 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290029 13q13.1 13 32398562 A G Q R 3350 3350 missense 0.99 probably damaging 0.0 deleterious 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000793713,pubmed:25394175,ClinVar:RCV000580599 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786204285 13q13.1 13 32398564 G C A P 3351 3351 missense 0.815 possibly damaging 0.01 deleterious 0 Breast and/or ovarian cancer Ovarian cancer is a disease that affects women. ClinVar:RCV000168618 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs1475702169 13q13.1 13 32398567 C G L V 3352 3352 missense 0.419 benign 0.0 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000543513 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290030 13q13.1 13 32398574 C G S C 3354 3354 missense 0.03 benign 0.07 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000582951 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290031 13q13.1 13 32398577 G A G D 3355 3355 missense 0.03 benign 0.22 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000558318 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs786203411 13q13.1 13 32398582 A G T A 3357 3357 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358388 13q13.1 13 32398583 C T T I 3357 3357 missense 0.0 benign 0.03 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000130535 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358388 13q13.1 13 32398583 C G T R 3357 3357 missense 0.031 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:114480 pubmed:10399947,pubmed:10978364,pubmed:11139248,pubmed:11149425,pubmed:11241844,pubmed:11948477,pubmed:12145750,pubmed:12373604,pubmed:12442274,pubmed:12569143,pubmed:12938098,pubmed:14722926,pubmed:15026808,pubmed:15172753,pubmed:15365993,pubmed:16793542,pubmed:9150152,pubmed:9609997,pubmed:9654203,pubmed:9971877 pubmed:25394175,ClinVar:RCV000772032 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358389 13q13.1 13 32398589 A G E G 3359 3359 missense 0.892 possibly damaging 0.18 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112835,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043708 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,gnomAD rs777397727 13q13.1 13 32398588 G A E K 3359 3359 missense 0.138 benign 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs751250810 13q13.1 13 32398595 A C Q P 3361 3361 missense 0.003 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000570247 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1356012723 13q13.1 13 32398597 T C F L 3362 3362 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000572441 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs756978580 13q13.1 13 32398598 T C F S 3362 3362 missense 0.07 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000163731 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358390 13q13.1 13 32398602 A G I M 3363 3363 missense 0.003 benign 0.14 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112836 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs55881945 13q13.1 13 32398600 A G I V 3363 3363 missense 0.0 benign 0.35 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000132086 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876658960 13q13.1 13 32398609 A C S R 3366 3366 missense 0.003 benign 0.2 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000551669,pubmed:25394175,ClinVar:RCV000221747 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290042 13q13.1 13 32398613 A G E G 3367 3367 missense 0.858 possibly damaging 0.11 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786205482 13q13.1 13 32398615 T C S P 3368 3368 missense 0.012 benign 0.22 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358392 13q13.1 13 32398618 A G T A 3369 3369 missense 0.16 benign 0.23 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP,gnomAD rs80358393 13q13.1 13 32398624 A G T A 3371 3371 missense 0.995 probably damaging 0.21 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000167810 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358394 13q13.1 13 32398625 C G T S 3371 3371 missense 0.995 probably damaging 0.01 deleterious 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112842 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs748237097 13q13.1 13 32398628 C G A G 3372 3372 missense 0.067 benign 0.14 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290046 13q13.1 13 32398627 G A A T 3372 3372 missense 0.003 benign 0.38 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637769 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs748237097 13q13.1 13 32398628 C T A V 3372 3372 missense 0.003 benign 0.14 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000549630 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358395 13q13.1 13 32398633 A G T A 3374 3374 missense 0.287 benign 0.11 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166051 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs56309455 13q13.1 13 32398634 C T T I 3374 3374 missense 0.791 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000131153 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs80358395 13q13.1 13 32398633 A T T S 3374 3374 missense 0.014 benign 0.69 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502481 COSM4047110 13q13.1 13 32398636 A G S G 3375 3375 missense 0.009 benign 0.33 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000460381 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1060502452 13q13.1 13 32398637 G A S N 3375 3375 missense 0.009 benign 0.31 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290049 COSM6074229 13q13.1 13 32398640 C G S * 3376 3376 stop gained -1.0 unknown -1.0 unknown 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793835 13q13.1 13 32398644 A T E D 3377 3377 missense 0.045 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000569905 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1064793835 13q13.1 13 32398644 A C E D 3377 3377 missense 0.045 benign 0.24 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 ClinVar:RCV000677841,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000698028,pubmed:25394175,ClinVar:RCV000509753 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1412762465 13q13.1 13 32398649 A G Y C 3379 3379 missense 0.006 benign 0.17 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000538319 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1412762465 13q13.1 13 32398649 A C Y S 3379 3379 missense 0.006 benign 0.38 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566261456 13q13.1 13 32398651 C G L V 3380 3380 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000775006 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566261458 13q13.1 13 32398656 A T R S 3381 3381 missense 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000695999 P51587 BRCA2 Breast cancer type 2 susceptibility protein gnomAD rs1175484982 13q13.1 13 32398658 T C L P 3382 3382 missense 0.851 possibly damaging 0.18 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876659246 13q13.1 13 32398661 A G K R 3383 3383 missense 0.037 benign 0.1 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000214004 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA,dbSNP,gnomAD rs397507568 COSM1178844 13q13.1 13 32398663 C T R * 3384 3384 stop gained -1.0 unknown -1.0 unknown 1 Cancer of the pancreas MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112844,ClinVar:RCV000677846 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs397507568 13q13.1 13 32398663 C G R G 3384 3384 missense 0.015 benign 0.19 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000663192,pubmed:25394175,ClinVar:RCV000509951,pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000240754 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358397 13q13.1 13 32398664 G A R Q 3384 3384 missense 0.537 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112845,pubmed:25394175,ClinVar:RCV000571209 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs397507261 13q13.1 13 32398666 C T R C 3385 3385 missense 0.0 benign 0.1 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000031302 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358398 13q13.1 13 32398667 G A R H 3385 3385 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358399 13q13.1 13 32398670 G T C F 3386 3386 missense 0.054 benign 0.67 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112847 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202571 13q13.1 13 32398672 A G T A 3387 3387 missense 0.006 benign 0.65 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217613 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786202571 13q13.1 13 32398672 A T T S 3387 3387 missense 0.003 benign 0.55 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000165436 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs863224584 13q13.1 13 32398673 C G T S 3387 3387 missense 0.003 benign 0.55 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs431825278 13q13.1 13 32398675 A G T A 3388 3388 missense 0.225 benign 0.44 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs1431008455 13q13.1 13 32398676 C A T K 3388 3388 missense 0.545 possibly damaging 0.23 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000773252 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs759903048 13q13.1 13 32398678 T G S A 3389 3389 missense 0.652 possibly damaging 0.2 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs431825279 13q13.1 13 32398679 C T S F 3389 3389 missense 0.974 probably damaging 0.01 deleterious 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637504 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs759903048 13q13.1 13 32398678 T C S P 3389 3389 missense 0.056 benign 0.29 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs778147500 13q13.1 13 32398684 A G I V 3391 3391 missense 0.003 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000206136,pubmed:25394175,ClinVar:RCV000773224 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs80358400 13q13.1 13 32398688 A C K T 3392 3392 missense 0.031 benign 0.3 tolerated 0 Breast-ovarian cancer, familial 2 (BROVCA2) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112848 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290061 13q13.1 13 32398697 A C E A 3395 3395 missense 0.65 possibly damaging 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567910 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs889208749 13q13.1 13 32398700 G A S N 3396 3396 missense 0.0 benign 1.0 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000563670 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs776043746 13q13.1 13 32398701 T A S R 3396 3396 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776666 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290062 COSM946889 13q13.1 13 32398699 A C S R 3396 3396 missense 0.0 benign 0.04 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs876660044 13q13.1 13 32398702 T A S T 3397 3397 missense 0.69 possibly damaging 0.32 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000220269 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566261530 13q13.1 13 32398705 C T Q * 3398 3398 stop gained -1.0 unknown -1.0 unknown 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777586 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,NCI-TCGA,gnomAD rs374275215 13q13.1 13 32398706 A G Q R 3398 3398 missense 0.001 benign 0.27 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1057521734 13q13.1 13 32398708 G T A S 3399 3399 missense 0.001 benign 0.56 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs1057521734 13q13.1 13 32398708 G A A T 3399 3399 missense 0.003 benign 0.68 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000691460 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290068 13q13.1 13 32398711 A G S G 3400 3400 missense 0.0 benign 0.31 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000567244 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,gnomAD rs763642189 13q13.1 13 32398712 G A S N 3400 3400 missense 0.131 benign 0.24 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,NCI-TCGA,TOPMed,dbSNP,gnomAD rs55853199 COSM3417538 13q13.1 13 32398715 C T T M 3401 3401 1.9999999494757503E-4 missense 0.847 possibly damaging 0.05 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs276174804 13q13.1 13 32398717 G A E K 3402 3402 missense 0.009 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112849,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043726,pubmed:25394175,ClinVar:RCV000130717 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs587782614 13q13.1 13 32398724 G A C Y 3404 3404 missense 0.726 possibly damaging 0.25 tolerated 0 Hereditary cancer-predisposing syndrome MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000637786,pubmed:25394175,ClinVar:RCV000131989 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290072 13q13.1 13 32398728 G T E D 3405 3405 missense 0.27 benign 0.1 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000552324 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290071 13q13.1 13 32398726 G C E Q 3405 3405 missense 0.365 benign 0.06 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000509636 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP,gnomAD rs80358401 13q13.1 13 32398733 A G N S 3407 3407 missense 0.009 benign 0.74 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,TOPMed,dbSNP,gnomAD rs80358402 13q13.1 13 32398735 A T K * 3408 3408 stop gained 0 Hereditary cancer-predisposing syndrome MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112851,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000074509,pubmed:25394175,ClinVar:RCV000131732 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs786203099 13q13.1 13 32398739 A G Q R 3409 3409 missense 0.521 possibly damaging 0.02 deleterious 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000166256 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs80358404 13q13.1 13 32398743 C A D E 3410 3410 missense 0.054 benign 0.07 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000112852,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000043730 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed,dbSNP rs864622402 13q13.1 13 32398745 C T T I 3411 3411 missense 0.014 benign 0.13 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000205538 P51587 BRCA2 Breast cancer type 2 susceptibility protein TOPMed rs864622402 13q13.1 13 32398745 C G T R 3411 3411 missense 0.815 possibly damaging 0.0 deleterious 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1057524418 13q13.1 13 32398748 T G I S 3412 3412 missense 0.0 benign 1.0 tolerated 0 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs1801426 13q13.1 13 32398747 A G I V 3412 3412 missense 0.009 benign 0.15 tolerated 0 Neoplasm of the breast Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. pubmed:17954709,pubmed:19042984,pubmed:22138009,pubmed:23188549,pubmed:23835710,pubmed:23917950,pubmed:23970019,pubmed:24061412,pubmed:24088296,pubmed:24799465,pubmed:24799487,pubmed:25488926,pubmed:27557300,ClinVar:RCV000414645 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs730881584 13q13.1 13 32398751 C T T I 3413 3413 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000777576 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881584 13q13.1 13 32398751 C A T K 3413 3413 missense 0.009 benign 0.35 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000698928 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP,gnomAD rs730881584 13q13.1 13 32398751 C G T R 3413 3413 missense 0.005 benign 0.25 tolerated 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000217697 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,TOPMed,dbSNP,gnomAD rs80358405 13q13.1 13 32398753 A G T A 3414 3414 missense 0.12 benign 0.17 tolerated 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:612555,MIM:604370 pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:25394175,pubmed:27854360,ClinVar:RCV000077652,pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000458506 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs1555290085 13q13.1 13 32398759 A T K * 3416 3416 stop gained 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000573785 P51587 BRCA2 Breast cancer type 2 susceptibility protein ESP,ExAC,dbSNP,gnomAD rs369663895 13q13.1 13 32398760 A C K T 3416 3416 missense 0.299 benign 0.09 tolerated - low confidence 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000215106 P51587 BRCA2 Breast cancer type 2 susceptibility protein Ensembl,dbSNP rs730881600 13q13.1 13 32398763 A G Y C 3417 3417 missense 0.001 benign 0.04 deleterious - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000230091 P51587 BRCA2 Breast cancer type 2 susceptibility protein 1000Genomes,ExAC,dbSNP,gnomAD rs535952730 13q13.1 13 32398762 T C Y H 3417 3417 missense 0.0 benign 0.08 tolerated - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000474923 P51587 BRCA2 Breast cancer type 2 susceptibility protein dbSNP rs1566261647 13q13.1 13 32398767 C G I M 3418 3418 missense 0 Hereditary cancer-predisposing syndrome pubmed:25394175,ClinVar:RCV000776610 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,dbSNP rs778034661 13q13.1 13 32398766 T A I N 3418 3418 missense 0.08 benign 0.01 deleterious - low confidence 0 Hereditary breast and ovarian cancer syndrome (HBOC) BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. MIM:604370 pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:27854360,ClinVar:RCV000468141 P51587 BRCA2 Breast cancer type 2 susceptibility protein ExAC,NCI-TCGA rs778034661 COSM4047112 13q13.1 13 32398766 T G I S 3418 3418 missense 0.006 benign 0.01 deleterious - low confidence 0