A total 11023 pathogenic variants reported in gene BRCA2 DNA repair associated (BRCA2)
| Variant Name |
Variant Type |
Variant Genomic Location |
Clinical Significance |
Phenotype Condition |
Review Status |
ClinGen Allele |
dbSNP ID |
Variation/condition record |
|
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)
|
SNV Germline |
Chr13:32363367 |
Pathogenic |
BRCA2-related disorder Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA025480 |
rs_80359062 |
22 SubmittersRCV000405476RCV000031723RCV000163026RCV001193120RCV000414368RCV003460448 |
|
NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter)
|
SNV Germline |
Chr13:32363421 |
Pathogenic |
Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025524 |
rs_80359070 |
5 SubmittersRCV000009934RCV000113889RCV000236578RCV001380789 |
|
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)
|
SNV Germline |
Chr13:32339003 |
Pathogenic |
Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Fanconi anemia Familial cancer of breast |
Reviewed By Expert Panel |
CA020587 |
rs_80358695 |
9 SubmittersRCV000009935RCV000044460RCV000113326RCV000571951RCV001530923RCV003473074 |
|
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)
|
SNV Germline |
Chr13:32356521 |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025134 |
rs_80358979 |
11 SubmittersRCV000009936RCV000113772RCV000478444RCV001290186RCV000509658 |
|
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)
|
SNV Germline |
Chr13:32340000 |
Pathogenic |
Wilms tumor 1 Glioma susceptibility 3 Medulloblastoma Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA022825 |
rs_80358785 |
11 SubmittersRCV000009937RCV000009938RCV000009939RCV000113452RCV000496664RCV001284577RCV000568762 |
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
SNV Germline |
Chr13:32380085 |
Pathogenic |
Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition Cancer or benign tumor |
Reviewed By Expert Panel |
CA026028 |
rs_80359180 |
24 SubmittersRCV000009941RCV000077463RCV000131052RCV000210196RCV000257912RCV000235644RCV001357808RCV003460449RCV004802932RCV005624682 |
|
NM_000059.4(BRCA2):c.631+1G>A
|
SNV Germline |
Chr13:32326614 |
Pathogenic |
Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 |
Criteria Provided Multiple Submitters No Conflicts |
CA023848 |
rs_81002897 |
11 SubmittersRCV000009942RCV000044895RCV000131851RCV000113913RCV000985563RCV001310166 |
|
NM_000059.4(BRCA2):c.631+2T>G
|
SNV Germline |
Chr13:32326615 |
Pathogenic |
Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Fanconi anemia Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA023852 |
rs_81002899 |
24 SubmittersRCV000009943RCV000031615RCV000044897RCV000195357RCV000129071RCV000769680RCV000826135RCV001353557RCV003147279RCV004802933 |
|
NM_000059.4(BRCA2):c.-9T>C
|
SNV Germline |
Chr13:32316452 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA026356 |
rs_276174802 |
11 SubmittersRCV000031298RCV000425748RCV000584062RCV000587310RCV001085220RCV005357189 |
|
NM_000059.4(BRCA2):c.10024G>A (p.Glu3342Lys)
|
SNV Germline |
Chr13:32398537 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA010063 |
rs_28897761 |
7 SubmittersRCV000031299RCV000220854RCV000445222RCV000463710RCV001705616 |
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
SNV Germline |
Chr13:32398667 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA010372 |
rs_80358398 |
16 SubmittersRCV000031303RCV000768613RCV000162743RCV000374528RCV000725588RCV001086927RCV001353958RCV004532431 |
|
NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)
|
SNV Germline |
Chr13:32332644 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA011022 |
rs_397507263 |
12 SubmittersRCV000031308RCV000439294RCV000589187RCV000571104RCV001085676RCV002250483 |
|
NM_000059.4(BRCA2):c.1199T>C (p.Leu400Pro)
|
SNV Germline |
Chr13:32332677 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA011124 |
rs_397507264 |
4 SubmittersRCV000031310RCV000229646RCV000571637 |
|
NM_000059.4(BRCA2):c.1253C>A (p.Ser418Ter)
|
SNV Germline |
Chr13:32332731 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA011334 |
rs_397507266 |
4 SubmittersRCV000031313RCV002415439 |
|
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys)
|
SNV Germline |
Chr13:32332905 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified 8 conditions |
Criteria Provided Conflicting Classifications |
CA012011 |
rs_80358431 |
15 SubmittersRCV000031320RCV000132255RCV000203653RCV000589266RCV001818197RCV005007903 |
|
NM_000059.4(BRCA2):c.1438T>C (p.Cys480Arg)
|
SNV Germline |
Chr13:32332916 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA012037 |
rs_397507267 |
3 SubmittersRCV000031321RCV000164042 |
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
SNV Germline |
Chr13:32332938 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Condition: not provided not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012131 |
rs_56390402 |
17 SubmittersRCV000031322RCV000131573RCV001109419RCV000679155RCV001818198RCV001082494 |
|
NM_000059.4(BRCA2):c.1472C>G (p.Thr491Ser)
|
SNV Germline |
Chr13:32332950 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA012168 |
rs_397507268 |
8 SubmittersRCV000031323RCV000220125RCV000566123RCV000637774RCV005357192 |
|
NM_000059.4(BRCA2):c.1487C>T (p.Ser496Phe)
|
SNV Germline |
Chr13:32332965 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA012209 |
rs_397507269 |
7 SubmittersRCV000031324RCV000205000RCV000772728RCV003330404 |
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
SNV Germline |
Chr13:32333028 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer not specified |
Criteria Provided Conflicting Classifications |
CA012378 |
rs_80358439 |
14 SubmittersRCV000129057RCV000031326RCV000043826RCV000586299RCV005234811RCV002267805 |
|
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)
|
SNV Germline |
Chr13:32333042 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Endometrial carcinoma BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA012430 |
rs_80358442 |
17 SubmittersRCV000031327RCV000034431RCV000043829RCV000165147RCV000200975RCV001353896RCV004732558RCV004803002 |
|
NM_000059.4(BRCA2):c.1574C>T (p.Thr525Ile)
|
SNV Germline |
Chr13:32333052 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA012488 |
rs_397507271 |
9 SubmittersRCV000031328RCV000219292RCV001367198RCV001723594 |
|
NM_000059.4(BRCA2):c.1600G>A (p.Glu534Lys)
|
SNV Germline |
Chr13:32333078 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA012611 |
rs_276174810 |
11 SubmittersRCV000031330RCV000131321RCV000215004RCV001327852RCV003317049RCV004803003 |
|
NM_000059.4(BRCA2):c.1625T>C (p.Ile542Thr)
|
SNV Germline |
Chr13:32333103 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA012660 |
rs_397507273 |
8 SubmittersRCV000031331RCV001222108RCV000589631RCV000222475RCV005357193 |
|
NM_000059.4(BRCA2):c.1705C>A (p.Gln569Lys)
|
SNV Germline |
Chr13:32333183 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA012949 |
rs_397507274 |
8 SubmittersRCV000215568RCV001800322RCV000220050RCV000470503RCV004803004 |
|
NM_000059.4(BRCA2):c.1756A>G (p.Lys586Glu)
|
SNV Germline |
Chr13:32333234 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013100 |
rs_397507275 |
10 SubmittersRCV000031336RCV003323367RCV001753436RCV003149594RCV000166903RCV000801636 |
|
NM_000059.4(BRCA2):c.1799A>G (p.Tyr600Cys)
|
SNV Germline |
Chr13:32333277 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013299 |
rs_397507276 |
4 SubmittersRCV000031338RCV000567913RCV002513285 |
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
SNV Germline |
Chr13:32319188 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA013307 |
rs_80358463 |
14 SubmittersRCV000031339RCV000130469RCV000168530RCV001114847RCV001082266RCV001284556RCV003607203 |
|
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter)
|
SNV Germline |
Chr13:32333278 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided |
Reviewed By Expert Panel |
CA013314 |
rs_80358464 |
13 SubmittersRCV000131060RCV000031340RCV000496257RCV003460500RCV000216426 |
|
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)
|
SNV Germline |
Chr13:32333310 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast BRCA2-related cancer predisposition Familial cancer of breast |
Reviewed By Expert Panel |
CA013511 |
rs_80358474 |
21 SubmittersRCV000031345RCV000043906RCV000131056RCV000212216RCV001353665RCV004803010RCV003460501 |
|
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)
|
SNV Germline |
Chr13:32333328 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA013563 |
rs_397507278 |
6 SubmittersRCV000031346RCV000510116RCV000587137 |
|
NM_000059.4(BRCA2):c.1850C>G (p.Ser617Ter)
|
SNV Germline |
Chr13:32333328 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 |
Reviewed By Expert Panel |
CA013573 |
rs_397507278 |
5 SubmittersRCV000031347RCV000509896RCV004771456 |
|
NM_000059.4(BRCA2):c.1970T>A (p.Leu657Ter)
|
SNV Germline |
Chr13:32336325 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA014065 |
rs_397507279 |
6 SubmittersRCV000031352RCV000223168RCV000657697RCV000558782RCV003473160 |
|
NM_000059.4(BRCA2):c.2026T>C (p.Cys676Arg)
|
SNV Germline |
Chr13:32336381 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA014166 |
rs_397507280 |
11 SubmittersRCV000031353RCV000816423RCV001014109RCV001509436RCV005357195 |
|
NM_000059.4(BRCA2):c.2152G>A (p.Glu718Lys)
|
SNV Germline |
Chr13:32336507 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA014465 |
rs_397507281 |
9 SubmittersRCV000031356RCV000462341RCV000571025RCV001588835RCV005364891 |
|
NM_000059.4(BRCA2):c.2231C>G (p.Ser744Ter)
|
SNV Germline |
Chr13:32336586 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA014691 |
rs_397507282 |
10 SubmittersRCV000031358RCV001385142RCV000481885RCV003473162RCV000572355 |
|
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)
|
SNV Germline |
Chr13:32336595 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA014722 |
rs_397507283 |
13 SubmittersRCV000031359RCV000657147RCV001112185RCV000204756RCV000215823RCV000487003 |
|
NM_000059.4(BRCA2):c.2281T>C (p.Tyr761His)
|
SNV Germline |
Chr13:32336636 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA014861 |
rs_80358499 |
10 SubmittersRCV000031360RCV000043968RCV000132108RCV000995057 |
|
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)
|
SNV Germline |
Chr13:32336675 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA014934 |
rs_55968715 |
19 SubmittersRCV000031362RCV000120313RCV000131357RCV000225743RCV001719707RCV004532435 |
|
NM_000059.4(BRCA2):c.235A>G (p.Ile79Val)
|
SNV Germline |
Chr13:32319244 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA015040 |
rs_80358502 |
9 SubmittersRCV000031364RCV000500366RCV000561580RCV001588836RCV001852621RCV004803011 |
|
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)
|
SNV Germline |
Chr13:32336764 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer |
Reviewed By Expert Panel |
CA015152 |
rs_80358504 |
16 SubmittersRCV000031365RCV000573627RCV000043984RCV000212221RCV003473164RCV000769686 |
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
SNV Germline |
Chr13:32319250 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA015198 |
rs_80358507 |
16 SubmittersRCV000031366RCV000043988RCV000217504RCV000586268RCV002295275RCV004803012 |
|
NM_000059.4(BRCA2):c.2426T>G (p.Leu809Ter)
|
SNV Germline |
Chr13:32336781 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA015222 |
rs_397507285 |
11 SubmittersRCV000031367RCV000160047RCV000204854RCV000561108RCV004566765 |
|
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile)
|
SNV Germline |
Chr13:32336846 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA015472 |
rs_397507287 |
14 SubmittersRCV000031369RCV000204111RCV000221646RCV001553524RCV001269089 |
|
NM_000059.4(BRCA2):c.2507C>T (p.Pro836Leu)
|
SNV Germline |
Chr13:32336862 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015505 |
rs_397507288 |
5 SubmittersRCV000031370RCV001824581RCV001015788RCV001852622 |
|
NM_000059.4(BRCA2):c.2555A>G (p.Asn852Ser)
|
SNV Germline |
Chr13:32336910 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015629 |
rs_80358519 |
6 SubmittersRCV000031371RCV001015944RCV001800323RCV001371141 |
|
NM_000059.4(BRCA2):c.2572A>G (p.Arg858Gly)
|
SNV Germline |
Chr13:32336927 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015667 |
rs_397507289 |
6 SubmittersRCV000166715RCV000031372RCV000160215RCV000532132 |
|
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)
|
SNV Germline |
Chr13:32336944 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA015734 |
rs_80358521 |
15 SubmittersRCV000031375RCV000044020RCV000130583RCV000427575RCV001284078RCV004541034 |
|
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala)
|
SNV Germline |
Chr13:32337071 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast and/or ovarian cancer Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA016160 |
rs_80358528 |
13 SubmittersRCV000031379RCV000165093RCV000204999RCV000160218RCV000768588RCV001719708RCV004532436 |
|
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter)
|
SNV Germline/somatic |
Chr13:32319283 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast neoplasm |
Reviewed By Expert Panel |
CA016251 |
rs_80358529 |
13 SubmittersRCV000031380RCV000212204RCV000496410RCV000215800RCV000240677 |
|
NM_000059.4(BRCA2):c.2758C>A (p.Pro920Thr)
|
SNV Germline |
Chr13:32337113 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA016278 |
rs_397507293 |
9 SubmittersRCV000031381RCV000469857RCV000776350RCV001355877RCV005229837 |
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
SNV Germline |
Chr13:32319289 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer Hereditary cancer BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA016455 |
rs_80358531 |
21 SubmittersRCV000031384RCV000129340RCV000254706RCV000168018RCV000589736RCV001798039RCV004700291RCV004732560 |
|
NM_000059.4(BRCA2):c.2818C>T (p.Gln940Ter)
|
SNV Germline |
Chr13:32337173 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA016502 |
rs_80358532 |
12 SubmittersRCV000031385RCV000044068RCV000131103RCV000521686RCV003460503 |
|
NM_000059.4(BRCA2):c.2827A>G (p.Ile943Val)
|
SNV Germline |
Chr13:32337182 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA016516 |
rs_397507294 |
7 SubmittersRCV000031386RCV001320611RCV003156725RCV001775544 |
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
SNV Germline |
Chr13:32337263 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast Breast and/or ovarian cancer Condition: not provided 8 conditions BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA016740 |
rs_397507295 |
13 SubmittersRCV000031387RCV000129877RCV000196636RCV000220683RCV000735533RCV000588181RCV000763884RCV004803013 |
|
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)
|
SNV Germline |
Chr13:32337273 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Familial prostate cancer Ovarian cancer |
Criteria Provided Conflicting Classifications |
CA016775 |
rs_397507296 |
15 SubmittersRCV000031388RCV000165120RCV000781108RCV000220429RCV001111816RCV000471898RCV005357196RCV003153311 |
|
NM_000059.4(BRCA2):c.2937A>G (p.Ile979Met)
|
SNV Germline |
Chr13:32337292 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016830 |
rs_397507297 |
4 SubmittersRCV000031389RCV000772737RCV003529924 |
|
NM_000059.4(BRCA2):c.2938G>T (p.Asp980Tyr)
|
SNV Germline |
Chr13:32337293 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA016836 |
rs_397507298 |
8 SubmittersRCV000031390RCV000692326RCV000506200RCV000766614RCV000129246 |
|
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)
|
SNV Germline |
Chr13:32337301 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Malignant tumor of breast not specified Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA016856 |
rs_80358541 |
12 SubmittersRCV000131646RCV000031391RCV001081289RCV001356963RCV001175363RCV000590161RCV002250485 |
|
NM_000059.4(BRCA2):c.2979G>A (p.Trp993Ter)
|
SNV Germline |
Chr13:32337334 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA016943 |
rs_80358544 |
10 SubmittersRCV000031393RCV000162915RCV000203665RCV003473167 |
|
NM_000059.4(BRCA2):c.2984G>C (p.Gly995Ala)
|
SNV Germline |
Chr13:32337339 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA016963 |
rs_397507299 |
4 SubmittersRCV000031394RCV001339914RCV000574159 |
|
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)
|
SNV Germline |
Chr13:32337387 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA017069 |
rs_80358548 |
18 SubmittersRCV000031396RCV000148418RCV000164588RCV000589304RCV001080499RCV004532437RCV005237440 |
|
NM_000059.4(BRCA2):c.3073A>T (p.Lys1025Ter)
|
SNV Germline |
Chr13:32337428 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA017171 |
rs_80358550 |
2 SubmittersRCV000031399 |
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
SNV Germline/somatic |
Chr13:32337464 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome 8 conditions Malignant tumor of breast Familial cancer of breast Breast and/or ovarian cancer BRCA2-related disorder |
Reviewed By Expert Panel |
CA017251 |
rs_80358557 |
17 SubmittersRCV000031400RCV000044120RCV000160056RCV000216711RCV000762916RCV001353509RCV002250486RCV003149595RCV004541035 |
|
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter)
|
SNV Germline |
Chr13:32337513 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA017322 |
rs_41293477 |
16 SubmittersRCV000031401RCV000162916RCV000496393RCV000424640RCV003460504 |
|
NM_000059.4(BRCA2):c.316+1G>A
|
SNV Germline |
Chr13:32319326 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA017358 |
rs_397507303 |
4 SubmittersRCV000031403RCV001378664RCV000772114 |
|
NM_000059.4(BRCA2):c.316+1G>C
|
SNV Germline |
Chr13:32319326 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA017361 |
rs_397507303 |
2 SubmittersRCV000031404 |
|
NM_000059.4(BRCA2):c.317-10A>G
|
SNV Germline |
Chr13:32325066 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA017438 |
rs_81002824 |
10 SubmittersRCV000031406RCV001192566RCV001483715RCV001182332RCV005364892RCV001284417 |
|
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)
|
SNV Germline |
Chr13:32337573 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer not specified Malignant tumor of breast BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA017573 |
rs_80358566 |
16 SubmittersRCV000031409RCV000129622RCV000588491RCV001083043RCV001798041RCV003389627RCV001357102RCV004732562 |
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
SNV Germline |
Chr13:32337617 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA017647 |
rs_80358572 |
25 SubmittersRCV000031410RCV000044159RCV000129258RCV000585942RCV001086347RCV005364893 |
|
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)
|
SNV Germline |
Chr13:32337654 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Inherited breast cancer and ovarian cancer BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA017736 |
rs_80358575 |
15 SubmittersRCV000031413RCV000044173RCV000129737RCV000656794RCV001085619RCV004584178RCV004803016 |
|
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter)
|
SNV Germline |
Chr13:32337663 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA017759 |
rs_397507305 |
5 SubmittersRCV000031415RCV000798064RCV002321494RCV001262729 |
|
NM_000059.4(BRCA2):c.3321A>C (p.Gln1107His)
|
SNV Germline |
Chr13:32337676 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA017780 |
rs_397507306 |
10 SubmittersRCV000031416RCV000131343RCV000794728RCV000780030RCV003476910RCV004803018 |
|
NM_000059.4(BRCA2):c.3349A>G (p.Ile1117Val)
|
SNV Germline |
Chr13:32337704 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017820 |
rs_397507307 |
6 SubmittersRCV000031418RCV000688673RCV000480421RCV000772028 |
|
NM_000059.4(BRCA2):c.3395A>G (p.Lys1132Arg)
|
SNV Germline |
Chr13:32337750 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA017914 |
rs_80358582 |
6 SubmittersRCV000031419RCV000218723RCV003144115RCV004803019 |
|
NM_000059.4(BRCA2):c.3422C>T (p.Thr1141Ile)
|
SNV Germline |
Chr13:32337777 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA017995 |
rs_397507308 |
7 SubmittersRCV000031420RCV000579950RCV000781057RCV000200443 |
|
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly)
|
SNV Germline |
Chr13:32337792 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified 8 conditions Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018008 |
rs_80358588 |
11 SubmittersRCV000044192RCV000031421RCV000129732RCV000780046RCV005003411RCV003151738 |
|
NM_000059.4(BRCA2):c.3443A>G (p.Gln1148Arg)
|
SNV Germline |
Chr13:32337798 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA018029 |
rs_200808363 |
7 SubmittersRCV000031422RCV000467374RCV000222474RCV001193843 |
|
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met)
|
SNV Germline |
Chr13:32337808 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018084 |
rs_80358592 |
12 SubmittersRCV000031423RCV000132398RCV000212229RCV001086601RCV001703436 |
|
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)
|
SNV Germline |
Chr13:32337864 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA018216 |
rs_80358599 |
16 SubmittersRCV000031425RCV000217936RCV000440300RCV001392166RCV001703437RCV005364894 |
|
NM_000059.4(BRCA2):c.353G>A (p.Arg118His)
|
SNV Germline |
Chr13:32325112 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of pancreas not specified Condition: not provided Familial cancer of breast Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA018293 |
rs_80358603 |
15 SubmittersRCV000031426RCV000044218RCV000164685RCV000677866RCV000200972RCV000587352RCV003607204RCV005357198 |
|
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln)
|
SNV Germline |
Chr13:32337924 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018360 |
rs_80358605 |
14 SubmittersRCV000031428RCV000130051RCV000587455RCV001082730RCV003234930RCV005364895 |
|
NM_000059.4(BRCA2):c.3620A>G (p.Tyr1207Cys)
|
SNV Germline |
Chr13:32337975 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018414 |
rs_397507310 |
6 SubmittersRCV000031429RCV000557673RCV000569223RCV000218950 |
|
NM_000059.4(BRCA2):c.3658T>C (p.Tyr1220His)
|
SNV Germline |
Chr13:32338013 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA018482 |
rs_397507312 |
3 SubmittersRCV000031431RCV001216931RCV003156726 |
|
NM_000059.4(BRCA2):c.3662C>A (p.Ser1221Tyr)
|
SNV Germline |
Chr13:32338017 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA018495 |
rs_397507313 |
9 SubmittersRCV000031432RCV000160066RCV000772742RCV000698137RCV003317050 |
|
NM_000059.4(BRCA2):c.3794G>T (p.Cys1265Phe)
|
SNV Germline |
Chr13:32338149 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018818 |
rs_397507315 |
6 SubmittersRCV000031438RCV000131347RCV000555191RCV001800324 |
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
SNV Germline |
Chr13:32338265 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast BRCA2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA019137 |
rs_28897723 |
16 SubmittersRCV000031446RCV000044305RCV000130607RCV000417556RCV001170462RCV001353744RCV003607206RCV004532440RCV004998117 |
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
SNV Germline |
Chr13:32338277 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast BRCA2-related disorder 8 conditions BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA019195 |
rs_80358638 |
24 SubmittersRCV000031448RCV000167856RCV000044312RCV000128952RCV000465243RCV004532441RCV005003414RCV004803025 |
|
NM_000059.4(BRCA2):c.396T>A (p.Cys132Ter)
|
SNV Germline |
Chr13:32325155 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA019311 |
rs_397507320 |
7 SubmittersRCV000031450RCV000520725RCV001384950 |
|
NM_000059.4(BRCA2):c.3G>T (p.Met1Ile)
|
SNV Germline |
Chr13:32316463 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer |
Criteria Provided Multiple Submitters No Conflicts |
CA019369 |
rs_80358650 |
6 SubmittersRCV000031452RCV004948138RCV000496217RCV000735545 |
|
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr)
|
SNV Germline |
Chr13:32338409 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA019440 |
rs_80358655 |
13 SubmittersRCV000031455RCV000481701RCV000565185RCV000770723RCV001345237RCV004803026 |
|
NM_000059.4(BRCA2):c.4151T>A (p.Leu1384Ter)
|
SNV Germline |
Chr13:32338506 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA019626 |
rs_397507325 |
5 SubmittersRCV000031465RCV001383064RCV001524855 |
|
NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys)
|
SNV Germline |
Chr13:32338544 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome BRCA2-related disorder Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA019698 |
rs_28897726 |
11 SubmittersRCV000031468RCV000044370RCV000203656RCV003483437RCV000509937RCV000586214 |
|
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)
|
SNV Germline |
Chr13:32338577 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related disorder Familial cancer of breast |
Reviewed By Expert Panel |
CA019744 |
rs_80358663 |
15 SubmittersRCV000031470RCV000215029RCV000480509RCV000044373RCV004532442RCV003473172 |
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
SNV Germline |
Chr13:32338598 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions Familial cancer of breast |
Reviewed By Expert Panel |
CA019770 |
rs_397507327 |
14 SubmittersRCV000031471RCV000219707RCV000510028RCV001385296RCV000762917RCV003460510 |
|
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp)
|
SNV Germline |
Chr13:32338671 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA019966 |
rs_80358667 |
12 SubmittersRCV000212234RCV000031474RCV000656795RCV001316319RCV000131416 |
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
SNV Germline |
Chr13:32338712 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified 8 conditions BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA020036 |
rs_397507330 |
13 SubmittersRCV000119103RCV000166887RCV000204586RCV000589133RCV001358664RCV002477033RCV003483438RCV004803030 |
|
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)
|
SNV Germline |
Chr13:32338731 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast neoplasm Condition: not provided Invasive lobular breast carcinoma Ovarian cancer Familial cancer of breast not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA020060 |
rs_117187202 |
14 SubmittersRCV000031479RCV000044400RCV000166927RCV000240790RCV000481899RCV000677823RCV000677824RCV002250488RCV003234931RCV005357200RCV004803031 |
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
SNV Germline |
Chr13:32338929 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified 8 conditions |
Criteria Provided Conflicting Classifications |
CA020478 |
rs_397507336 |
8 SubmittersRCV000031490RCV000214334RCV000229506RCV004998118RCV005237441RCV002490437 |
|
NM_000059.4(BRCA2):c.4594G>T (p.Val1532Phe)
|
SNV Germline |
Chr13:32338949 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020521 |
rs_80358693 |
7 SubmittersRCV000031492RCV002336100RCV001343720 |
|
NM_000059.4(BRCA2):c.4637T>C (p.Phe1546Ser)
|
SNV Germline |
Chr13:32338992 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020566 |
rs_397507337 |
7 SubmittersRCV000031495RCV000132332RCV001044392RCV002269258 |
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
SNV Germline |
Chr13:32326139 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions |
Criteria Provided Conflicting Classifications |
CA020592 |
rs_377639990 |
9 SubmittersRCV000031497RCV000199441RCV000160022RCV000582907RCV000656793RCV002477034 |
|
NM_000059.4(BRCA2):c.4741G>A (p.Glu1581Lys)
|
SNV Germline |
Chr13:32339096 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020741 |
rs_368952892 |
12 SubmittersRCV000031501RCV000165611RCV000637419RCV004525860RCV004812296 |
|
NM_000059.4(BRCA2):c.476-1G>A
|
SNV Germline |
Chr13:32326241 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Multiple myeloma |
Criteria Provided Multiple Submitters No Conflicts |
CA020789 |
rs_397507340 |
6 SubmittersRCV000031503RCV000772115RCV003529925RCV004595892 |
|
NM_000059.4(BRCA2):c.476-2A>G
|
SNV Germline |
Chr13:32326240 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial cancer of breast |
Reviewed By Expert Panel |
CA020792 |
rs_81002853 |
13 SubmittersRCV000031504RCV000131855RCV000506489RCV001387341RCV001271039RCV003473180 |
|
NM_000059.4(BRCA2):c.476-3C>T
|
SNV Germline |
Chr13:32326239 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder Malignant tumor of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020799 |
rs_371431745 |
9 SubmittersRCV000031506RCV000438966RCV000132383RCV000559561RCV004541039RCV001356001RCV001719709 |
|
NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val)
|
SNV Germline |
Chr13:32339174 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020868 |
rs_200582465 |
11 SubmittersRCV000031507RCV000221701RCV000221891RCV000233915RCV000657070 |
|
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
SNV Germline |
Chr13:32339183 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Breast and/or ovarian cancer Condition: not provided not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020880 |
rs_80358705 |
16 SubmittersRCV000031508RCV000044498RCV001112023RCV003492312RCV001353552RCV000074530RCV000130783 |
|
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)
|
SNV Germline |
Chr13:32339205 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020915 |
rs_397507341 |
11 SubmittersRCV000031509RCV000166443RCV000437440RCV000697920RCV001703438 |
|
NM_000059.4(BRCA2):c.4905G>T (p.Leu1635Phe)
|
SNV Germline |
Chr13:32339260 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA020991 |
rs_397507342 |
7 SubmittersRCV000031511RCV000581537RCV000461109RCV004803037 |
|
NM_000059.4(BRCA2):c.4910T>G (p.Val1637Gly)
|
SNV Germline |
Chr13:32339265 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020995 |
rs_397507343 |
4 SubmittersRCV000031512RCV000130557RCV001228952 |
|
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile)
|
SNV Germline |
Chr13:32339270 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast neoplasm Condition: not provided Hereditary breast ovarian cancer syndrome Familial pancreatic carcinoma not specified |
Criteria Provided Conflicting Classifications |
CA020999 |
rs_80358716 |
14 SubmittersRCV000031513RCV000129029RCV000240704RCV000587911RCV001083151RCV005357202RCV004562220 |
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
SNV Germline |
Chr13:32339320 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified 8 conditions Ovarian neoplasm Fanconi anemia complementation group D1 Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition Inherited ovarian cancer (without breast cancer) |
Reviewed By Expert Panel |
CA021070 |
rs_80358721 |
29 SubmittersRCV000031517RCV000044533RCV000128925RCV000194794RCV000195354RCV000496311RCV000762918RCV000785221RCV001269282RCV001353669RCV003473182RCV004803038RCV004808557 |
|
NM_000059.4(BRCA2):c.4979C>T (p.Pro1660Leu)
|
SNV Germline |
Chr13:32339334 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021095 |
rs_397507345 |
4 SubmittersRCV000031518RCV000166270RCV001042145 |
|
NM_000059.4(BRCA2):c.5000C>G (p.Ser1667Ter)
|
SNV Germline |
Chr13:32339355 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA021122 |
rs_397507346 |
4 SubmittersRCV000031519RCV000582842RCV001042671 |
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
SNV Germline |
Chr13:32326272 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided BRCA2-related disorder Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA021201 |
rs_80358730 |
17 SubmittersRCV000031522RCV000074532RCV000129126RCV000044547RCV001111540RCV001281705RCV004541040RCV001798044 |
|
NM_000059.4(BRCA2):c.5080A>T (p.Arg1694Ter)
|
SNV Germline |
Chr13:32339435 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA021220 |
rs_200265692 |
8 SubmittersRCV000031525RCV000255681RCV001186724RCV001035630 |
|
NM_000059.4(BRCA2):c.5084A>G (p.Glu1695Gly)
|
SNV Germline |
Chr13:32339439 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA021226 |
rs_397507347 |
6 SubmittersRCV000031526RCV000805560RCV000173968RCV001023510 |
|
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys)
|
SNV Germline |
Chr13:32339519 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Pancreatic cancer, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA021504 |
rs_80358741 |
11 SubmittersRCV000031529RCV000218602RCV000637658RCV001800326RCV002247403RCV001787821RCV004803040 |
|
NM_000059.4(BRCA2):c.5227A>T (p.Ser1743Cys)
|
SNV Germline |
Chr13:32339582 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021787 |
rs_397507348 |
3 SubmittersRCV000031533RCV003156727RCV001247955 |
|
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr)
|
SNV Germline |
Chr13:32339778 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA022301 |
rs_397507350 |
12 SubmittersRCV000031545RCV000697860RCV000587412RCV000217283RCV000432442RCV004700292 |
|
NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys)
|
SNV Germline |
Chr13:32339850 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA022446 |
rs_138489917 |
10 SubmittersRCV000031550RCV000120329RCV000129225RCV000470070RCV001284573 |
|
NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro)
|
SNV Germline |
Chr13:32326533 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA022493 |
rs_80358775 |
11 SubmittersRCV000031552RCV000200973RCV001024218RCV001413498RCV002271380RCV004566771RCV004803045 |
|
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)
|
SNV Germline |
Chr13:32339909 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA022546 |
rs_80358777 |
15 SubmittersRCV000031554RCV000044680RCV000164924RCV000656609RCV001193956 |
|
NM_000059.4(BRCA2):c.5575A>G (p.Ile1859Val)
|
SNV Germline |
Chr13:32339930 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA022595 |
rs_397507354 |
12 SubmittersRCV000031555RCV000166864RCV000229983RCV000590140 |
|
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter)
|
SNV Germline |
Chr13:32339969 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA022708 |
rs_80358783 |
13 SubmittersRCV000044696RCV000162926RCV000113450RCV000212241RCV003473191 |
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
SNV Germline |
Chr13:32340000 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast neoplasm Familial cancer of breast Breast and/or ovarian cancer Ovarian neoplasm not specified Metastatic Prostate Small Cell Carcinoma Prostate cancer Breast carcinoma 8 conditions BRCA2-related cancer predisposition Gastric cancer BRCA2-related disorder |
Reviewed By Expert Panel |
CA022818 |
rs_80358785 |
44 SubmittersRCV000031565RCV000044705RCV000167830RCV000131114RCV000240722RCV000585709RCV000735569RCV000785224RCV001002489RCV001281099RCV001799612RCV002496484RCV004803049RCV003162274RCV003483439 |
|
NM_000059.4(BRCA2):c.5655C>A (p.Cys1885Ter)
|
SNV Germline |
Chr13:32340010 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA022870 |
rs_80358789 |
15 SubmittersRCV000031566RCV000044709RCV000160093RCV000220539 |
|
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
|
SNV Germline |
Chr13:32326548 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA022922 |
rs_397507359 |
6 SubmittersRCV000031567RCV000542458RCV000567705 |
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
SNV Germline |
Chr13:32340027 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions |
Criteria Provided Conflicting Classifications |
CA022933 |
rs_397507360 |
10 SubmittersRCV000031568RCV000460706RCV000562290RCV000758912RCV002477036 |
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
SNV Germline |
Chr13:32340037 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Ovarian cancer Condition: not provided 9 conditions Breast and/or ovarian cancer Ovarian neoplasm Familial cancer of breast 8 conditions Breast-ovarian cancer, familial, susceptibility to, 1 BRCA2-related disorder Inherited breast cancer and ovarian cancer |
Reviewed By Expert Panel |
CA022962 |
rs_41293497 |
43 SubmittersRCV000031570RCV000044719RCV000131121RCV000148424RCV000160095RCV000515199RCV000735572RCV000785225RCV002250489RCV002477037RCV003493419RCV004732568RCV005252701 |
|
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro)
|
SNV Germline |
Chr13:32340078 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA023052 |
rs_80358797 |
12 SubmittersRCV000031572RCV000220622RCV001689581RCV001798048RCV001486114RCV002468982 |
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
SNV Germline |
Chr13:32340092 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA023103 |
rs_80358799 |
12 SubmittersRCV000031573RCV000044738RCV000132499RCV000212244RCV000586429RCV002272032 |
|
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)
|
SNV Germline |
Chr13:32340137 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Familial cancer of breast Condition: not provided |
Reviewed By Expert Panel |
CA023221 |
rs_56253082 |
13 SubmittersRCV000031577RCV000044754RCV000581432RCV001356842RCV003460518RCV004998119 |
|
NM_000059.4(BRCA2):c.582G>A (p.Trp194Ter)
|
SNV Germline/somatic |
Chr13:32326564 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Inherited breast cancer and ovarian cancer Malignant tumor of urinary bladder Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA023281 |
rs_80358810 |
10 SubmittersRCV000031581RCV001387735RCV005357206RCV005237442RCV003332089RCV000562057 |
|
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter)
|
SNV Germline |
Chr13:32340210 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA023306 |
rs_375064902 |
7 SubmittersRCV000031583RCV000149889RCV000563543 |
|
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)
|
SNV Germline |
Chr13:32340237 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023336 |
rs_80358820 |
13 SubmittersRCV000031585RCV000044784RCV000128953RCV000439783RCV001703439 |
|
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)
|
SNV Germline |
Chr13:32340251 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast Condition: not provided Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA023347 |
rs_80358822 |
16 SubmittersRCV000031586RCV000044787RCV000131689RCV000225745RCV001356911RCV001800329RCV004691727 |
|
NM_000059.4(BRCA2):c.5897A>G (p.His1966Arg)
|
SNV Germline |
Chr13:32340252 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023349 |
rs_80358823 |
10 SubmittersRCV000031587RCV000130475RCV000586187RCV002509172RCV001083441 |
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
SNV Germline |
Chr13:32340264 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast Inherited breast cancer and ovarian cancer |
Reviewed By Expert Panel |
CA023362 |
rs_80358824 |
23 SubmittersRCV000031588RCV000131108RCV000255943RCV000257911RCV000735577RCV001354008RCV003460519RCV004782025 |
|
NM_000059.4(BRCA2):c.5909C>T (p.Ser1970Leu)
|
SNV Germline |
Chr13:32340264 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023364 |
rs_80358824 |
5 SubmittersRCV000031589RCV000228606RCV000583874 |
|
NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg)
|
SNV Germline |
Chr13:32340292 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023388 |
rs_28897737 |
12 SubmittersRCV000031590RCV000167183RCV000168414RCV000587913RCV001798049RCV001268976RCV004803052 |
|
NM_000059.4(BRCA2):c.5945G>C (p.Ser1982Thr)
|
SNV Germline |
Chr13:32340300 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA023396 |
rs_28897738 |
10 SubmittersRCV000044796RCV000203657RCV000113507RCV000590082RCV000510094RCV003483440 |
|
NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter)
|
SNV Germline |
Chr13:32340335 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Gastric cancer Condition: not provided |
Reviewed By Expert Panel |
CA023442 |
rs_80358831 |
11 SubmittersRCV000031592RCV000044810RCV000457725RCV000772034RCV003162276RCV000758915 |
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
SNV Germline |
Chr13:32340341 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome 8 conditions Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023458 |
rs_80358833 |
8 SubmittersRCV000031593RCV000501578RCV000637722RCV000763892RCV001024750 |
|
NM_000059.4(BRCA2):c.6020C>A (p.Thr2007Asn)
|
SNV Germline |
Chr13:32340375 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023530 |
rs_397507363 |
9 SubmittersRCV000031595RCV000803896RCV001024817RCV004998120 |
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
SNV Germline |
Chr13:32340392 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast |
Reviewed By Expert Panel |
CA023562 |
rs_80358840 |
21 SubmittersRCV000031597RCV000044827RCV000131111RCV000217667RCV000506478RCV003473197 |
|
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)
|
SNV Germline |
Chr13:32340480 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023678 |
rs_80358852 |
12 SubmittersRCV000031599RCV000131951RCV000203091RCV000587844RCV002265571RCV004803054 |
|
NM_000059.4(BRCA2):c.6125A>G (p.Gln2042Arg)
|
SNV Germline |
Chr13:32340480 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023680 |
rs_80358852 |
10 SubmittersRCV000031600RCV000160108RCV000200820RCV000219164RCV000779953RCV005357207 |
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
SNV Germline |
Chr13:32340486 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Malignant tumor of breast Breast and/or ovarian cancer Fanconi anemia complementation group D1 not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023684 |
rs_56191579 |
17 SubmittersRCV000031601RCV000166682RCV001353819RCV000768600RCV001330945RCV004562221RCV000586884RCV001085159 |
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
SNV Germline |
Chr13:32340486 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified Breast neoplasm Hereditary breast ovarian cancer syndrome Malignant tumor of breast Fanconi anemia complementation group D1 Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA023686 |
rs_56191579 |
16 SubmittersRCV000031602RCV000044854RCV000130525RCV000421588RCV000413633RCV001086174RCV001358172RCV001112564RCV003492315 |
|
NM_000059.4(BRCA2):c.6188G>A (p.Gly2063Glu)
|
SNV Germline |
Chr13:32340543 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023726 |
rs_397507364 |
4 SubmittersRCV000031604RCV000164734RCV001059846 |
|
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile)
|
SNV Germline |
Chr13:32340551 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified 8 conditions |
Criteria Provided Conflicting Classifications |
CA023729 |
rs_397507365 |
13 SubmittersRCV000031605RCV000132349RCV000476966RCV000588799RCV000855632RCV005007912 |
|
NM_000059.4(BRCA2):c.6199T>A (p.Ser2067Thr)
|
SNV Germline |
Chr13:32340554 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023733 |
rs_143806921 |
5 SubmittersRCV000031606RCV000509673RCV000507742RCV000700945 |
|
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter)
|
SNV Germline |
Chr13:32340561 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA023746 |
rs_80358859 |
16 SubmittersRCV000044867RCV000031607RCV000568590RCV000486394RCV003473198 |
|
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)
|
SNV Germline |
Chr13:32340570 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Condition: not provided BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023758 |
rs_80358862 |
15 SubmittersRCV000031608RCV000044872RCV000120333RCV000130542RCV000769699RCV000766634RCV004532452RCV004803055 |
|
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg)
|
SNV Germline |
Chr13:32340624 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Malignant tumor of breast Breast and/or ovarian cancer BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023799 |
rs_397507366 |
13 SubmittersRCV000031611RCV000562031RCV001284435RCV001214226RCV001175040RCV001354947RCV003492316RCV004803056 |
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
SNV Germline |
Chr13:32316522 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Malignant tumor of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023837 |
rs_397507367 |
13 SubmittersRCV000031614RCV000122923RCV000129552RCV000656792RCV001193807RCV001357067RCV004803058 |
|
NM_000059.4(BRCA2):c.6313A>G (p.Ile2105Val)
|
SNV Germline |
Chr13:32340668 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023857 |
rs_397507368 |
4 SubmittersRCV000031616RCV001025126RCV000637370 |
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
SNV Germline |
Chr13:32326613 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Multiple Submitters No Conflicts |
CA023872 |
rs_80358871 |
11 SubmittersRCV000031617RCV000562565RCV001328441RCV000438397RCV004803059 |
|
NM_000059.4(BRCA2):c.6344A>G (p.Glu2115Gly)
|
SNV Germline |
Chr13:32340699 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023933 |
rs_397507370 |
6 SubmittersRCV000031622RCV001351427RCV002257368 |
|
NM_000059.4(BRCA2):c.6441C>G (p.His2147Gln)
|
SNV Germline |
Chr13:32340796 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA024038 |
rs_80358879 |
7 SubmittersRCV000031627RCV000044948RCV000496559RCV001025273 |
|
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)
|
SNV Germline |
Chr13:32340896 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA024155 |
rs_371067421 |
10 SubmittersRCV000031633RCV000205463RCV000420330RCV000567616RCV000586226RCV004732572 |
|
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)
|
SNV Germline |
Chr13:32340915 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA024168 |
rs_56019712 |
15 SubmittersRCV000031634RCV000044985RCV000129413RCV000589601RCV001109884RCV001081092RCV003492317 |
|
NM_000059.4(BRCA2):c.6567C>G (p.Asn2189Lys)
|
SNV Germline |
Chr13:32340922 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024178 |
rs_397507374 |
6 SubmittersRCV000031636RCV000695101RCV002362602RCV001566342 |
|
NM_000059.4(BRCA2):c.67+4T>C
|
SNV Germline |
Chr13:32316531 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA024375 |
rs_373546450 |
9 SubmittersRCV000031643RCV000228347RCV001723595RCV000130680 |
|
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)
|
SNV Germline |
Chr13:32341094 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA024359 |
rs_80358896 |
15 SubmittersRCV000031645RCV000045034RCV000163090RCV000587555RCV001079936RCV003607207 |
|
NM_000059.4(BRCA2):c.682-13A>G
|
SNV Germline |
Chr13:32330906 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA024454 |
rs_81002888 |
10 SubmittersRCV000031650RCV000045062RCV000608940RCV001188330RCV005357211 |
|
NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter)
|
SNV Germline |
Chr13:32330925 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA024542 |
rs_80358913 |
9 SubmittersRCV000031654RCV000221860RCV000496274RCV003473206 |
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
SNV Germline/somatic |
Chr13:32346841 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Breast neoplasm Hereditary cancer-predisposing syndrome Ovarian neoplasm 8 conditions Familial cancer of breast Gastric cancer BRCA2-related disorder |
Reviewed By Expert Panel |
CA024619 |
rs_80358920 |
37 SubmittersRCV000031658RCV000045095RCV000212256RCV000240678RCV000569398RCV000785228RCV000763325RCV001262534RCV003162279RCV003483441 |
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
SNV Germline |
Chr13:32346896 |
Pathogenic |
Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer 8 conditions BRCA2-related disorder Inherited breast cancer and ovarian cancer |
Reviewed By Expert Panel |
CA024713 |
rs_28897743 |
38 SubmittersRCV000009923RCV000031659RCV000045112RCV000131031RCV000174440RCV000475925RCV000735595RCV002496486RCV004732575RCV005237444 |
|
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val)
|
SNV Germline |
Chr13:32354949 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024864 |
rs_80358941 |
10 SubmittersRCV000031665RCV000164923RCV000225749RCV000679185RCV002265572RCV004803064 |
|
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)
|
SNV Germline |
Chr13:32354955 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast Malignant tumor of breast BRCA2-related disorder Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA024871 |
rs_397507382 |
14 SubmittersRCV000031666RCV000132508RCV000206651RCV000445338RCV002250491RCV001353652RCV004532455RCV001711136RCV003492318 |
|
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)
|
SNV Germline |
Chr13:32354986 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Rhabdomyosarcoma Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA024895 |
rs_276174889 |
12 SubmittersRCV000031667RCV000045148RCV000478738RCV001257550RCV000216056RCV003460526 |
|
NM_000059.4(BRCA2):c.7258G>T (p.Glu2420Ter)
|
SNV Germline |
Chr13:32355111 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025002 |
rs_397507385 |
5 SubmittersRCV000045178RCV000031671RCV000221529 |
|
NM_000059.4(BRCA2):c.7435+6G>A
|
SNV Germline |
Chr13:32355294 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Familial cancer of breast BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025080 |
rs_81002852 |
26 SubmittersRCV000031678RCV000168598RCV000167780RCV000210777RCV000679187RCV000768633RCV005411302RCV004528144 |
|
NM_000059.4(BRCA2):c.7436-4A>G
|
SNV Germline |
Chr13:32356424 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified BRCA2-related disorder Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA025086 |
rs_81002904 |
16 SubmittersRCV000031679RCV000164776RCV000168599RCV004532456RCV001084165RCV001353462RCV004803065RCV000768634 |
|
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)
|
SNV Germline |
Chr13:32356458 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025100 |
rs_80358970 |
12 SubmittersRCV000031680RCV000131769RCV000212259RCV001171393RCV001300377RCV004566777 |
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
SNV Germline |
Chr13:32356472 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Carcinoma of pancreas 8 conditions BRCA2-related cancer predisposition Gastric cancer Familial cancer of breast BRCA2-related disorder |
Reviewed By Expert Panel |
CA025108 |
rs_80358972 |
36 SubmittersRCV000031681RCV000045227RCV000131084RCV000225750RCV001391218RCV002477038RCV004803066RCV003162280RCV003460528RCV004732576 |
|
NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr)
|
SNV Germline |
Chr13:32356491 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025119 |
rs_80358976 |
9 SubmittersRCV000031682RCV000045232RCV000203647RCV000129357RCV004584598RCV004803067RCV001719711 |
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
SNV Germline |
Chr13:32356557 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Chordoma Inherited prostate cancer |
Criteria Provided Conflicting Classifications |
CA025154 |
rs_80358985 |
11 SubmittersRCV000031686RCV000045249RCV000162600RCV000587666RCV002266908RCV005237446 |
|
NM_000059.4(BRCA2):c.7594C>T (p.Pro2532Ser)
|
SNV Germline |
Chr13:32356586 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025167 |
rs_397507388 |
5 SubmittersRCV000031689RCV000222549RCV001224548RCV003460529 |
|
NM_000059.4(BRCA2):c.7598C>G (p.Ser2533Cys)
|
SNV Germline |
Chr13:32356590 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025173 |
rs_80358987 |
10 SubmittersRCV000045255RCV000031690RCV001194022RCV004803070RCV000130650RCV000214587RCV005357213 |
|
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)
|
SNV Germline |
Chr13:32356593 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025174 |
rs_74047012 |
16 SubmittersRCV000031691RCV000220233RCV000590175RCV001085066RCV002267807RCV004541047 |
|
NM_000059.4(BRCA2):c.7618-1G>A
|
SNV Germline |
Chr13:32357741 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome 8 conditions |
Reviewed By Expert Panel |
CA025188 |
rs_397507389 |
18 SubmittersRCV000031692RCV000045265RCV000131688RCV000195358RCV000474278RCV001171446RCV005007916 |
|
NM_000059.4(BRCA2):c.7618C>A (p.Leu2540Met)
|
SNV Germline |
Chr13:32357742 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast BRCA2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025194 |
rs_397507390 |
9 SubmittersRCV000031693RCV000166080RCV000545892RCV002265573RCV003473211RCV004532457RCV004998122 |
|
NM_000059.4(BRCA2):c.7643A>G (p.His2548Arg)
|
SNV Germline |
Chr13:32357767 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified BRCA2-related disorder Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025208 |
rs_80358992 |
11 SubmittersRCV000031694RCV000045275RCV000129573RCV001193722RCV004732578RCV004566778RCV004719666 |
|
NM_000059.4(BRCA2):c.7684T>C (p.Phe2562Leu)
|
SNV Germline |
Chr13:32357808 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025230 |
rs_80358995 |
14 SubmittersRCV000031696RCV000220943RCV000221024RCV001290190RCV002298451RCV004732579 |
|
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)
|
SNV Germline/somatic |
Chr13:32357882 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Familial cancer of breast |
Reviewed By Expert Panel |
CA025260 |
rs_80359004 |
20 SubmittersRCV000031698RCV000255811RCV000496860RCV000569377RCV003332090RCV004566779 |
|
NM_000059.4(BRCA2):c.784G>A (p.Ala262Thr)
|
SNV Germline |
Chr13:32331021 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025308 |
rs_397507393 |
7 SubmittersRCV000031703RCV000230620RCV000216411RCV002281725RCV003476911RCV004803072 |
|
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)
|
SNV Germline |
Chr13:32362574 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Familial cancer of breast Rhabdomyosarcoma |
Reviewed By Expert Panel |
CA025311 |
rs_80359011 |
17 SubmittersRCV000031704RCV000162936RCV000521372RCV000496960RCV001353730RCV003473212RCV001257551 |
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
SNV Germline |
Chr13:32362585 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA025314 |
rs_80359012 |
15 SubmittersRCV000131271RCV000045333RCV000031705RCV000480661RCV001353877RCV003322593RCV004803073RCV000505960 |
|
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)
|
SNV Germline/somatic |
Chr13:32362595 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of breast BRCA2-related disorder Familial cancer of breast |
Reviewed By Expert Panel |
CA025318 |
rs_80359013 |
15 SubmittersRCV000031706RCV000045335RCV000237084RCV000217125RCV001353668RCV004528145RCV003473213 |
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
SNV Germline |
Chr13:32362595 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast Uterine corpus cancer 8 conditions Breast-ovarian cancer, familial, susceptibility to, 1 BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA025319 |
rs_80359013 |
33 SubmittersRCV000031707RCV000045336RCV000163025RCV000482471RCV001271059RCV001357728RCV002288525RCV003128132RCV002504846RCV004783730RCV004803074 |
|
NM_000059.4(BRCA2):c.7963C>T (p.Gln2655Ter)
|
SNV Germline |
Chr13:32362680 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025356 |
rs_397507395 |
6 SubmittersRCV000031710RCV001178396RCV003529926 |
|
NM_000059.4(BRCA2):c.7974C>G (p.Tyr2658Ter)
|
SNV Germline |
Chr13:32362691 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025361 |
rs_80359025 |
11 SubmittersRCV000031711RCV001723596RCV002514125RCV004018694 |
|
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)
|
SNV Germline |
Chr13:32362692 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided |
Reviewed By Expert Panel |
CA025362 |
rs_80359026 |
14 SubmittersRCV000031712RCV001325838RCV002247404RCV000572654RCV001268917 |
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
SNV Germline |
Chr13:32362693 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast BRCA2-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA025368 |
rs_80359027 |
31 SubmittersRCV000031713RCV000045366RCV000131687RCV000212266RCV000785230RCV001358381RCV001171449RCV003473214RCV004541048 |
|
NM_000059.4(BRCA2):c.7977-1G>C
|
SNV Germline |
Chr13:32363178 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Familial prostate cancer Familial cancer of breast |
Reviewed By Expert Panel |
CA025372 |
rs_81002874 |
23 SubmittersRCV000031714RCV000045368RCV000507368RCV000162588RCV000486971RCV003483442RCV004566780RCV005357214RCV003473215 |
|
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro)
|
SNV Germline |
Chr13:32363265 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Multiple Submitters No Conflicts |
CA025432 |
rs_80359045 |
10 SubmittersRCV000031719RCV000219486RCV000505844RCV000045408RCV004803075 |
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
SNV Germline |
Chr13:32363294 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Familial cancer of breast Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA025451 |
rs_80359052 |
20 SubmittersRCV000031720RCV000074554RCV000129982RCV000755863RCV000531554RCV001354237RCV003607208RCV004584180 |
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
SNV Germline |
Chr13:32363319 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Chordoma Breast and/or ovarian cancer BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025459 |
rs_80359055 |
17 SubmittersRCV000031721RCV000164845RCV000424555RCV000588306RCV001086095RCV002266909RCV001798053RCV005357215 |
|
NM_000059.4(BRCA2):c.8153T>C (p.Ile2718Thr)
|
SNV Germline |
Chr13:32363355 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025473 |
rs_80359060 |
10 SubmittersRCV000031722RCV000045432RCV000583191RCV002305440RCV004803076 |
|
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)
|
SNV Germline |
Chr13:32363370 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Gastric cancer Hereditary breast ovarian cancer syndrome Familial cancer of breast 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Reviewed By Expert Panel |
CA025484 |
rs_41293513 |
17 SubmittersRCV000031724RCV000131682RCV000216099RCV001271062RCV003162282RCV000781040RCV003460531RCV005007918RCV005357216 |
|
NM_000059.4(BRCA2):c.825A>T (p.Lys275Asn)
|
SNV Germline |
Chr13:32332303 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025544 |
rs_397507399 |
11 SubmittersRCV000031730RCV000131188RCV000257932RCV001283942RCV001797593RCV004803077 |
|
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)
|
SNV Germline |
Chr13:32363511 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025562 |
rs_28897750 |
11 SubmittersRCV000031734RCV000130809RCV000218650RCV000637597RCV001192649RCV004803078 |
|
NM_000059.4(BRCA2):c.8331+1G>A
|
SNV Germline |
Chr13:32363534 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA025578 |
rs_81002837 |
10 SubmittersRCV000212272RCV000166511RCV000031737RCV004795942RCV001390937RCV002250494 |
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
SNV Germline |
Chr13:32370420 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Chordoma 8 conditions Breast and/or ovarian cancer BRCA2-related disorder Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Multiple Submitters No Conflicts |
CA025593 |
rs_80359075 |
27 SubmittersRCV000031738RCV000045487RCV000131691RCV000392114RCV001267731RCV002266910RCV004795943RCV003149602RCV004532460RCV003473218RCV005357218 |
|
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)
|
SNV Germline/somatic |
Chr13:32370430 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA025601 |
rs_80359078 |
15 SubmittersRCV000031739RCV000212273RCV000214554RCV001442600RCV001174961RCV004803079RCV005234817 |
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
SNV Germline |
Chr13:32370448 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA025614 |
rs_80359083 |
14 SubmittersRCV000031740RCV000045500RCV000165807RCV000679191RCV003473219 |
|
NM_000059.4(BRCA2):c.8378G>T (p.Gly2793Val)
|
SNV Germline |
Chr13:32370448 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025615 |
rs_80359083 |
8 SubmittersRCV000031741RCV000569751RCV003993754 |
|
NM_000059.4(BRCA2):c.8464A>T (p.Ile2822Phe)
|
SNV Germline |
Chr13:32370534 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025658 |
rs_397507403 |
4 SubmittersRCV000031743RCV000222998RCV001852626RCV005357220 |
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
SNV Germline |
Chr13:32370556 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Multiple Submitters No Conflicts |
CA025666 |
rs_80359100 |
15 SubmittersRCV000031744RCV000590582RCV000510027RCV001170976RCV001284445RCV004803080 |
|
NM_000059.4(BRCA2):c.8487+1G>T
|
SNV Germline |
Chr13:32370558 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025671 |
rs_81002798 |
3 SubmittersRCV000031745RCV000694757RCV002444449 |
|
NM_000059.4(BRCA2):c.8488-1G>A
|
SNV Germline |
Chr13:32370955 |
Pathogenic |
Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions Familial cancer of breast Gastric cancer BRCA2-related disorder BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA025677 |
rs_397507404 |
26 SubmittersRCV000009920RCV000031747RCV000160152RCV000213906RCV000231355RCV000763329RCV003473221RCV003162283RCV002221480RCV004803081 |
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
SNV Germline |
Chr13:32371035 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Breast and/or ovarian cancer BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025712 |
rs_11571747 |
37 SubmittersRCV000031751RCV000034464RCV000152885RCV000131022RCV000167825RCV000371112RCV000735613RCV004803082 |
|
NM_000059.4(BRCA2):c.8593T>G (p.Leu2865Val)
|
SNV Germline |
Chr13:32371061 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025727 |
rs_80359117 |
6 SubmittersRCV000031754RCV000574991RCV001551308RCV001321925 |
|
NM_000059.4(BRCA2):c.8633-2A>G
|
SNV Germline |
Chr13:32376668 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025749 |
rs_81002886 |
7 SubmittersRCV000031755RCV002371796 |
|
NM_000059.4(BRCA2):c.8633-4T>A
|
SNV Germline |
Chr13:32376666 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast Condition: not provided Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA025751 |
rs_397507407 |
11 SubmittersRCV000031756RCV000122935RCV000132191RCV000442944RCV001353567RCV003237417RCV005600624 |
|
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser)
|
SNV Germline |
Chr13:32376684 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025759 |
rs_80359122 |
11 SubmittersRCV000031758RCV000045590RCV000417546RCV000567301RCV001703441 |
|
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)
|
SNV Germline |
Chr13:32332343 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer not specified |
Criteria Provided Conflicting Classifications |
CA025766 |
rs_766173 |
17 SubmittersRCV000031759RCV000045592RCV000164485RCV000589996RCV001798054RCV003488352 |
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
SNV Germline |
Chr13:32376714 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome 8 conditions Familial cancer of breast |
Reviewed By Expert Panel |
CA025776 |
rs_397507409 |
14 SubmittersRCV000031760RCV000045600RCV000413575RCV001018169RCV002482934RCV003448249 |
|
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)
|
SNV Germline |
Chr13:32376732 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast not specified Hereditary breast ovarian cancer syndrome BRCA2-related disorder Hereditary cancer-predisposing syndrome Condition: not provided |
Reviewed By Expert Panel |
CA025783 |
rs_397507411 |
14 SubmittersRCV000031762RCV000045603RCV000506732RCV000779984RCV005222711RCV000566353RCV001269805 |
|
NM_000059.4(BRCA2):c.8754+2T>G
|
SNV Germline |
Chr13:32376793 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA025804 |
rs_397507412 |
2 SubmittersRCV000031764RCV004948140 |
|
NM_000059.4(BRCA2):c.8754+5G>A
|
SNV Germline |
Chr13:32376796 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA025807 |
rs_81002813 |
11 SubmittersRCV000031765RCV000571571RCV001852628RCV001573455 |
|
NM_000059.4(BRCA2):c.8755-1G>A
|
SNV Germline |
Chr13:32379316 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Malignant tumor of breast Carcinoma of pancreas Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA025812 |
rs_81002812 |
26 SubmittersRCV000031766RCV000131043RCV000238986RCV000220836RCV001310186RCV001357980RCV001391220RCV001529355RCV003473223 |
|
NM_000059.4(BRCA2):c.8755-9T>A
|
SNV Germline |
Chr13:32379308 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025815 |
rs_397507413 |
3 SubmittersRCV000031767RCV000811752RCV001018281 |
|
NM_000059.4(BRCA2):c.8755-9T>C
|
SNV Germline |
Chr13:32379308 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025816 |
rs_397507413 |
6 SubmittersRCV000031768RCV000766305RCV000773154RCV001081949 |
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
SNV Germline |
Chr13:32379379 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome 8 conditions Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025835 |
rs_397507414 |
6 SubmittersRCV000031770RCV000509817RCV000765142RCV001852629 |
|
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln)
|
SNV Germline |
Chr13:32379428 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025854 |
rs_142040996 |
10 SubmittersRCV000031771RCV000220440RCV000589427RCV000690405RCV004566782 |
|
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala)
|
SNV Germline |
Chr13:32379429 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025855 |
rs_151174152 |
13 SubmittersRCV000031772RCV000130252RCV000476614RCV000781140RCV000985609RCV004532462 |
|
NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter)
|
SNV Germline |
Chr13:32379431 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Reviewed By Expert Panel |
CA025856 |
rs_276174913 |
11 SubmittersRCV000031773RCV001174641RCV001798055RCV001018424RCV005364902 |
|
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)
|
SNV Germline |
Chr13:32332365 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025860 |
rs_45457795 |
13 SubmittersRCV000031774RCV000129101RCV000168545RCV000588297RCV001086214RCV005364903 |
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
SNV Germline |
Chr13:32379480 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Neuroblastoma Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025874 |
rs_80359143 |
17 SubmittersRCV000031777RCV000128971RCV000505714RCV000587937RCV000761134RCV000770734RCV001082957RCV005357222 |
|
NM_000059.4(BRCA2):c.8951C>G (p.Ser2984Ter)
|
SNV Germline |
Chr13:32379513 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025886 |
rs_80359146 |
7 SubmittersRCV000114019RCV000496423RCV002371797 |
|
NM_000059.4(BRCA2):c.8953+1G>T
|
SNV Germline |
Chr13:32379516 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA025890 |
rs_81002882 |
19 SubmittersRCV000031781RCV000131051RCV000213611RCV000254648RCV003473224 |
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
SNV Germline |
Chr13:32379800 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA025920 |
rs_80359152 |
24 SubmittersRCV000031784RCV000045685RCV000130642RCV000195385RCV000735616RCV001353997RCV002247405 |
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
SNV Germline |
Chr13:32379812 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025928 |
rs_397507416 |
8 SubmittersRCV000031785RCV000132244RCV000465067RCV001775545RCV004566783 |
|
NM_000059.4(BRCA2):c.9019A>G (p.Arg3007Gly)
|
SNV Germline |
Chr13:32379815 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome BRCA2-related disorder Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA025931 |
rs_397507417 |
12 SubmittersRCV000031786RCV000160163RCV000735617RCV000167398RCV004532463RCV000167961RCV000766653RCV001353884 |
|
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)
|
SNV Germline |
Chr13:32379872 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Malignant tumor of breast Gastric cancer Familial cancer of breast BRCA2-related disorder |
Reviewed By Expert Panel |
CA025962 |
rs_80359159 |
22 SubmittersRCV000031790RCV000413921RCV000045706RCV000131038RCV000735618RCV001353572RCV003162284RCV003473225RCV004532464 |
|
NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg)
|
SNV Germline |
Chr13:32379897 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA025979 |
rs_80359164 |
11 SubmittersRCV000031793RCV000045716RCV000132242RCV001375581RCV000657016RCV004566784RCV000481121 |
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
SNV Germline |
Chr13:32379900 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast BRCA2-related disorder Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA025980 |
rs_80359165 |
22 SubmittersRCV000031794RCV000120368RCV000045717RCV000130861RCV000589726RCV000735620RCV001353989RCV004732581RCV005430470 |
|
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)
|
SNV Germline |
Chr13:32379902 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA025983 |
rs_202155613 |
13 SubmittersRCV000031795RCV000074559RCV000223314RCV000344086RCV000289162RCV002250496RCV002271381RCV005357224 |
|
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg)
|
SNV Germline |
Chr13:32379912 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA025987 |
rs_80359167 |
9 SubmittersRCV000031796RCV000130896RCV000213291RCV000707640RCV003492320 |
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
SNV Germline |
Chr13:32379913 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome 9 conditions 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Breast carcinoma Breast-ovarian cancer, familial, susceptibility to, 1 Gastric cancer Familial cancer of breast BRCA2-related cancer predisposition Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025994 |
rs_28897756 |
36 SubmittersRCV000031798RCV000045725RCV000074560RCV000131039RCV000515207RCV000763330RCV001171453RCV001554310RCV001310189RCV003162286RCV003473227RCV004566785RCV005624714 |
|
NM_000059.4(BRCA2):c.9118-6C>T
|
SNV Germline |
Chr13:32380001 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025997 |
rs_81002890 |
7 SubmittersRCV000031799RCV001423115RCV000439624RCV004998123 |
|
NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln)
|
SNV Germline/somatic |
Chr13:32380044 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026007 |
rs_80359171 |
12 SubmittersRCV000031800RCV000045733RCV000768640RCV001086321RCV000131685RCV003332091RCV004532466 |
|
NM_000059.4(BRCA2):c.9177A>C (p.Lys3059Asn)
|
SNV Germline |
Chr13:32380066 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026017 |
rs_201561974 |
9 SubmittersRCV000031801RCV000166162RCV000807864RCV000779930RCV001588837RCV004566786 |
|
NM_000059.4(BRCA2):c.9195T>A (p.Phe3065Leu)
|
SNV Germline |
Chr13:32380084 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA026026 |
rs_80359179 |
4 SubmittersRCV000031802RCV000709339RCV002371798 |
|
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)
|
SNV Germline |
Chr13:32380131 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder Condition: not provided Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA026046 |
rs_80359189 |
16 SubmittersRCV000031805RCV000045755RCV000129976RCV000203623RCV004732582RCV001284113RCV005357225 |
|
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro)
|
SNV Germline |
Chr13:32380142 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026053 |
rs_397507423 |
11 SubmittersRCV000031807RCV000439515RCV000509957RCV000557691RCV000587457RCV004532468 |
|
NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter)
|
SNV Germline |
Chr13:32394726 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA026093 |
rs_80359200 |
10 SubmittersRCV000031811RCV000496360RCV002371799 |
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
SNV Germline |
Chr13:32394726 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast 8 conditions BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA026094 |
rs_80359200 |
25 SubmittersRCV000031812RCV000074562RCV000045784RCV000131041RCV000210096RCV000465472RCV000763331RCV004803089 |
|
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)
|
SNV Germline |
Chr13:32394734 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast NICE approved PARP inhibitor treatment Breast and/or ovarian cancer BRCA2-related cancer predisposition Inherited breast cancer and ovarian cancer |
Criteria Provided Multiple Submitters No Conflicts |
CA026098 |
rs_28897758 |
16 SubmittersRCV000045787RCV000031813RCV000162632RCV000657062RCV003473230RCV004584181RCV001798057RCV004803090RCV004691728 |
|
NM_000059.4(BRCA2):c.9320T>C (p.Ile3107Thr)
|
SNV Germline |
Chr13:32394752 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA026104 |
rs_397507425 |
5 SubmittersRCV000031814RCV000164259RCV001202106RCV005237447 |
|
NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr)
|
SNV Germline |
Chr13:32394785 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast neoplasm not specified Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026112 |
rs_56204128 |
14 SubmittersRCV000031815RCV000045797RCV000131368RCV000148437RCV000484041RCV001508342RCV004541053 |
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
SNV Germline |
Chr13:32394803 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Breast and/or ovarian cancer Malignant tumor of breast BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA026119 |
rs_28897759 |
41 SubmittersRCV000031816RCV000045802RCV000130337RCV000505786RCV000585706RCV001310163RCV001271066RCV001353921RCV004803091 |
|
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter)
|
SNV Germline |
Chr13:32394812 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast |
Reviewed By Expert Panel |
CA026126 |
rs_80359211 |
18 SubmittersRCV000031818RCV000131047RCV000485069RCV000781092RCV001355462RCV001798058RCV003473232 |
|
NM_000059.4(BRCA2):c.9383G>A (p.Arg3128Gln)
|
SNV Germline |
Chr13:32394815 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026128 |
rs_397507427 |
7 SubmittersRCV000031819RCV000130023RCV000500827RCV000705810RCV000985626RCV004803093 |
|
NM_000059.4(BRCA2):c.9385C>T (p.Pro3129Ser)
|
SNV Germline |
Chr13:32394817 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026131 |
rs_80359213 |
5 SubmittersRCV000031820RCV000773159RCV000823907RCV004803094 |
|
NM_000059.4(BRCA2):c.938C>T (p.Ser313Phe)
|
SNV Germline |
Chr13:32332416 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA026132 |
rs_397507428 |
11 SubmittersRCV000031821RCV000129312RCV000467684RCV003234932RCV001251312 |
|
NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter)
|
SNV Germline |
Chr13:32396919 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related disorder Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA026199 |
rs_397507430 |
8 SubmittersRCV000031829RCV002371800RCV003483443RCV000496351 |
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
SNV Germline |
Chr13:32332434 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast Fanconi anemia complementation group D1 Breast and/or ovarian cancer Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026214 |
rs_55939572 |
19 SubmittersRCV000031831RCV000045855RCV000162692RCV001083417RCV001357124RCV001109312RCV000735629RCV000758980RCV004803095 |
|
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln)
|
SNV Germline |
Chr13:32396977 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related cancer predisposition BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026221 |
rs_28897760 |
12 SubmittersRCV000031833RCV000045860RCV000131306RCV000160173RCV001719713RCV004803096RCV004532471 |
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
SNV Germline |
Chr13:32396982 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Breast neoplasm Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA026224 |
rs_80359228 |
19 SubmittersRCV000031834RCV000045862RCV000129724RCV000148420RCV000586984RCV000735631RCV001080657RCV001269375 |
|
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)
|
SNV Germline |
Chr13:32396995 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast 8 conditions Inherited ovarian cancer (without breast cancer) Inherited breast cancer and ovarian cancer Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA026227 |
rs_80359230 |
13 SubmittersRCV000031836RCV000519756RCV001019520RCV003473235RCV004795944RCV005237449RCV005237448RCV000496835 |
|
NM_000059.4(BRCA2):c.9616C>G (p.Gln3206Glu)
|
SNV Germline |
Chr13:32397012 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026236 |
rs_80359233 |
10 SubmittersRCV000031838RCV000045868RCV000217224RCV001582503RCV004566788 |
|
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)
|
SNV Germline |
Chr13:32332449 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026281 |
rs_397507435 |
13 SubmittersRCV000031844RCV000130515RCV000457938RCV000985254RCV001193321RCV004532472 |
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
SNV Germline |
Chr13:32398241 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026285 |
rs_80359241 |
16 SubmittersRCV000031845RCV000045892RCV000166251RCV000167844RCV000587179RCV000735633RCV001353590RCV004532473 |
|
NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val)
|
SNV Germline |
Chr13:32398447 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder not specified Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026337 |
rs_80359254 |
12 SubmittersRCV000031848RCV000482595RCV000573263RCV001315624RCV004732583RCV001264611RCV005357227 |
|
NM_000059.4(BRCA2):c.1022G>T (p.Cys341Phe)
|
SNV Germline |
Chr13:32332500 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA010516 |
rs_80358403 |
10 SubmittersRCV000083084RCV000034425RCV000164099RCV001089032 |
|
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val)
|
SNV Germline |
Chr13:32337917 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA018345 |
rs_202230438 |
9 SubmittersRCV000034438RCV000132042RCV000465606RCV003996168RCV004562224 |
|
NM_000059.4(BRCA2):c.5554G>T (p.Val1852Phe)
|
SNV Germline |
Chr13:32339909 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA022551 |
rs_80358777 |
4 SubmittersRCV000034448RCV001304476RCV002345269 |
|
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)
|
SNV Germline |
Chr13:32340680 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast neoplasm Malignant tumor of pancreas Fanconi anemia complementation group D1 Familial cancer of breast Malignant tumor of breast not specified BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA023912 |
rs_79456940 |
20 SubmittersRCV000034454RCV000113573RCV000129753RCV000195307RCV000240685RCV000677821RCV000406166RCV002250503RCV001353658RCV001818210RCV004541066 |
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
SNV Germline |
Chr13:32356496 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025120 |
rs_55716624 |
25 SubmittersRCV000034459RCV000077403RCV000148436RCV000045233RCV000131136RCV000168602RCV004534718 |
|
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)
|
SNV Germline |
Chr13:32376724 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA025781 |
rs_80359128 |
14 SubmittersRCV000034466RCV000077448RCV000129089RCV000418186RCV001086184RCV001353522 |
|
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys)
|
SNV Germline |
Chr13:32379503 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025880 |
rs_139052578 |
11 SubmittersRCV000034470RCV000130691RCV001364532RCV003473252RCV003996169 |
|
NM_000059.4(BRCA2):c.10024G>T (p.Glu3342Ter)
|
SNV Germline |
Chr13:32398537 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA010072 |
rs_28897761 |
8 SubmittersRCV000112832RCV000422123RCV000129731RCV000588538RCV001483406 |
|
NM_000059.4(BRCA2):c.10070C>T (p.Thr3357Ile)
|
SNV Germline |
Chr13:32398583 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA010135 |
rs_80358388 |
7 SubmittersRCV000112834RCV000130535RCV000212292RCV000779914RCV001346739 |
|
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)
|
SNV Germline |
Chr13:32398589 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA010155 |
rs_80358389 |
11 SubmittersRCV000043708RCV000112835RCV000222126RCV000781059RCV001090323 |
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
SNV Germline |
Chr13:32398602 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA010190 |
rs_80358390 |
16 SubmittersRCV000043709RCV000112836RCV000131377RCV000588809RCV000425048RCV001353943 |
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
SNV Germline |
Chr13:32319109 |
Pathogenic |
Familial cancer of breast Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Reviewed By Expert Panel |
CA010238 |
rs_80358391 |
18 SubmittersRCV000043711RCV000496610RCV000113128RCV000222288RCV000657625RCV000762914RCV005357284 |
|
NM_000059.4(BRCA2):c.10105A>G (p.Thr3369Ala)
|
SNV Germline |
Chr13:32398618 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA010254 |
rs_80358392 |
3 SubmittersRCV000112840RCV000429325RCV001852914 |
|
NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)
|
SNV Germline |
Chr13:32398633 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA010315 |
rs_80358395 |
10 SubmittersRCV000043717RCV000166051RCV000112843RCV001284405RCV005357285 |
|
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)
|
SNV Germline |
Chr13:32332490 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Fanconi anemia complementation group D1 Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA010336 |
rs_80358396 |
14 SubmittersRCV000043719RCV000112875RCV001111640RCV000509731RCV000759572RCV001280581 |
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
SNV Germline/somatic |
Chr13:32398663 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Malignant tumor of pancreas not specified Familial cancer of breast Gastric cancer Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA010347 |
rs_397507568 |
15 SubmittersRCV000043720RCV000112844RCV000565885RCV000677846RCV000438903RCV002250507RCV003162361RCV001719790RCV004806043 |
|
NM_000059.4(BRCA2):c.10151G>A (p.Arg3384Gln)
|
SNV Germline |
Chr13:32398664 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA010355 |
rs_80358397 |
6 SubmittersRCV000112845RCV000212293RCV001314535RCV001804767RCV000571209RCV004803133 |
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
SNV Germline |
Chr13:32398715 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA010443 |
rs_55853199 |
17 SubmittersRCV000132503RCV000077247RCV000755872RCV000435257RCV001083163 |
|
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)
|
SNV Germline |
Chr13:32398733 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA010482 |
rs_80358401 |
11 SubmittersRCV000112850RCV000129602RCV000212294RCV000589028RCV001370256 |
|
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter)
|
SNV Germline |
Chr13:32398735 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA010501 |
rs_80358402 |
10 SubmittersRCV000043728RCV000112851RCV000131732RCV000212295RCV000759573 |
|
NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu)
|
SNV Germline |
Chr13:32398743 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA010527 |
rs_80358404 |
10 SubmittersRCV000043730RCV000112852RCV000500767RCV003460558RCV001017039RCV000679152RCV001818216 |
|
NM_000059.4(BRCA2):c.1033A>G (p.Lys345Glu)
|
SNV Germline |
Chr13:32332511 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA010607 |
rs_80358406 |
6 SubmittersRCV000043733RCV000112877RCV000562927RCV003237419 |
|
NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter)
|
SNV Germline |
Chr13:32316470 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer |
Reviewed By Expert Panel |
CA010813 |
rs_397507571 |
10 SubmittersRCV000239090RCV000257718RCV001017301RCV001384947RCV000769679 |
|
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter)
|
SNV Germline |
Chr13:32332581 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA010822 |
rs_80358407 |
11 SubmittersRCV000043738RCV000112879RCV000258963RCV000222511RCV003473300 |
|
NM_000059.4(BRCA2):c.1117C>T (p.Gln373Ter)
|
SNV Germline |
Chr13:32332595 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA010847 |
rs_397507572 |
4 SubmittersRCV000256631RCV000585682RCV002433529 |
|
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys)
|
SNV Germline |
Chr13:32332605 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA010888 |
rs_80358410 |
12 SubmittersRCV000043742RCV000112882RCV000130007RCV000203669RCV001719792RCV004803134 |
|
NM_000059.4(BRCA2):c.1153A>T (p.Lys385Ter)
|
SNV Germline |
Chr13:32332631 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA010988 |
rs_80358411 |
7 SubmittersRCV000112887RCV000561185RCV000657628RCV002514183 |
|
NM_000059.4(BRCA2):c.1180G>T (p.Glu394Ter)
|
SNV Germline |
Chr13:32332658 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA011059 |
rs_397507575 |
2 SubmittersRCV000661426RCV002514184 |
|
NM_000059.4(BRCA2):c.1183T>G (p.Trp395Gly)
|
SNV Germline |
Chr13:32332661 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA011077 |
rs_80358412 |
5 SubmittersRCV000112888RCV001317443RCV001010084 |
|
NM_000059.4(BRCA2):c.1202C>G (p.Ser401Ter)
|
SNV Germline |
Chr13:32332680 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA011159 |
rs_80358413 |
7 SubmittersRCV000112891RCV004803135RCV001010201 |
|
NM_000059.4(BRCA2):c.1211A>T (p.Asn404Ile)
|
SNV Germline |
Chr13:32332689 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA011175 |
rs_80358414 |
8 SubmittersRCV000112892RCV000588048RCV000773258RCV001302330RCV004803136 |
|
NM_000059.4(BRCA2):c.121C>T (p.Pro41Ser)
|
SNV Germline |
Chr13:32319130 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Ovarian cancer Condition: not provided not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA011212 |
rs_80358415 |
11 SubmittersRCV000043760RCV000167471RCV000113156RCV003153332RCV001091524RCV003493421RCV004566813 |
|
NM_000059.4(BRCA2):c.1225G>A (p.Glu409Lys)
|
SNV Germline |
Chr13:32332703 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA011235 |
rs_80358416 |
9 SubmittersRCV000043761RCV000112895RCV000164321RCV001251342RCV000679154 |
|
NM_000059.4(BRCA2):c.1241T>A (p.Leu414Ter)
|
SNV Germline |
Chr13:32332719 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA011294 |
rs_397507576 |
2 SubmittersRCV000577820RCV000661407 |
|
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)
|
SNV Germline |
Chr13:32332722 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome not specified EBV-positive nodal T- and NK-cell lymphoma BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA011305 |
rs_80358417 |
17 SubmittersRCV000112899RCV000160035RCV000165768RCV000735440RCV001084688RCV000780016RCV004558293RCV004803137 |
|
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)
|
SNV Germline |
Chr13:32332725 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011324 |
rs_80358418 |
12 SubmittersRCV000077253RCV000129196RCV004700317RCV001284073RCV001112107RCV001394892 |
|
NM_000059.4(BRCA2):c.1261C>T (p.Gln421Ter)
|
SNV Germline/somatic |
Chr13:32332739 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Gastric cancer Malignant tumor of urinary bladder |
Reviewed By Expert Panel |
CA011382 |
rs_80358419 |
12 SubmittersRCV000112900RCV000131850RCV000496684RCV003162362RCV003332097 |
|
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val)
|
SNV Germline |
Chr13:32332793 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA011580 |
rs_80358420 |
10 SubmittersRCV000043780RCV000112907RCV000162696RCV000757039RCV001526976RCV004541230 |
|
NM_000059.4(BRCA2):c.1325C>T (p.Ser442Leu)
|
SNV Germline |
Chr13:32332803 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011613 |
rs_80358421 |
4 SubmittersRCV000112909RCV003156733RCV003764718 |
|
NM_000059.4(BRCA2):c.1327G>T (p.Glu443Ter)
|
SNV Germline |
Chr13:32332805 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA011622 |
rs_397507579 |
5 SubmittersRCV000169567RCV000238757 |
|
NM_000059.4(BRCA2):c.133G>T (p.Glu45Ter)
|
SNV Germline |
Chr13:32319142 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA011664 |
rs_397507581 |
2 SubmittersRCV000577322RCV000661718 |
|
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys)
|
SNV Germline |
Chr13:32332820 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA011683 |
rs_80358422 |
13 SubmittersRCV000043785RCV000077254RCV000165318RCV000203634RCV005357287 |
|
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)
|
SNV Germline |
Chr13:32332821 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011692 |
rs_80358423 |
14 SubmittersRCV000112910RCV000130010RCV000587298RCV001175372RCV001495330 |
|
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser)
|
SNV Germline |
Chr13:32319145 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011790 |
rs_80358425 |
11 SubmittersRCV000113176RCV000164910RCV001175345RCV000588395RCV001306963 |
|
NM_000059.4(BRCA2):c.1375T>G (p.Leu459Val)
|
SNV Germline |
Chr13:32332853 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011810 |
rs_80358426 |
3 SubmittersRCV000112915RCV003156734RCV001348290 |
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
SNV Germline |
Chr13:32332877 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome 8 conditions Familial cancer of breast Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Gastric cancer |
Reviewed By Expert Panel |
CA011908 |
rs_80358427 |
17 SubmittersRCV000077256RCV000240776RCV000131059RCV000221316RCV001385487RCV000762915RCV003473303RCV005357289RCV003162365 |
|
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter)
|
SNV Germline |
Chr13:32332889 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast Gastric cancer |
Reviewed By Expert Panel |
CA011958 |
rs_80358428 |
13 SubmittersRCV000195351RCV000043801RCV000112919RCV000162910RCV003473304RCV003162366 |
|
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)
|
SNV Germline |
Chr13:32332892 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer Breast carcinoma |
Reviewed By Expert Panel |
CA011969 |
rs_80358429 |
12 SubmittersRCV000043802RCV000112920RCV000509751RCV000657753RCV002514185RCV001270984RCV001554325 |
|
NM_000059.4(BRCA2):c.1418A>T (p.His473Leu)
|
SNV Germline |
Chr13:32332896 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011980 |
rs_80358430 |
5 SubmittersRCV000112921RCV000569851RCV001338564 |
|
NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter)
|
SNV Germline |
Chr13:32332901 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA012001 |
rs_397507587 |
8 SubmittersRCV000657629RCV000661641RCV000577355RCV001385297RCV002390184 |
|
NM_000059.4(BRCA2):c.1447G>A (p.Ala483Thr)
|
SNV Germline |
Chr13:32332925 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012073 |
rs_80358432 |
5 SubmittersRCV000112922RCV000509786RCV001365914 |
|
NM_000059.4(BRCA2):c.1447G>C (p.Ala483Pro)
|
SNV Germline |
Chr13:32332925 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA012085 |
rs_80358432 |
8 SubmittersRCV000112923RCV000132314RCV000417931RCV001316342RCV001284409 |
|
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)
|
SNV Germline |
Chr13:32332934 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA012111 |
rs_80358434 |
14 SubmittersRCV000112924RCV000219957RCV000520967RCV000496375RCV003473305 |
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
SNV Germline |
Chr13:32319154 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast 9 conditions Malignant tumor of breast Gastric cancer |
Reviewed By Expert Panel |
CA012123 |
rs_80358435 |
26 SubmittersRCV000043811RCV000077257RCV000131868RCV000167820RCV000238910RCV000515388RCV001353561RCV003162367 |
|
NM_000059.4(BRCA2):c.1463T>G (p.Ile488Arg)
|
SNV Germline |
Chr13:32332941 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA012142 |
rs_80358436 |
5 SubmittersRCV000043813RCV000112925RCV001011706 |
|
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr)
|
SNV Germline |
Chr13:32332961 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast neoplasm Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA012191 |
rs_80358437 |
11 SubmittersRCV000043814RCV000130135RCV000414054RCV000989001RCV001284410RCV004803138 |
|
NM_000059.4(BRCA2):c.1483G>C (p.Ala495Pro)
|
SNV Germline |
Chr13:32332961 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA012202 |
rs_80358437 |
7 SubmittersRCV000112926RCV000781146RCV001346743RCV002277133RCV000571207 |
|
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)
|
SNV Germline |
Chr13:32333006 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA012312 |
rs_80358438 |
9 SubmittersRCV000112930RCV000735525RCV000485041RCV001004831RCV001310170RCV001382424RCV004609300 |
|
NM_000059.4(BRCA2):c.1552G>C (p.Ala518Pro)
|
SNV Germline |
Chr13:32333030 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012397 |
rs_80358440 |
5 SubmittersRCV000112934RCV000480545RCV002390187RCV001852918 |
|
NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val)
|
SNV Germline |
Chr13:32333036 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA012418 |
rs_80358441 |
10 SubmittersRCV000112935RCV001012153RCV001313921RCV001264457 |
|
NM_000059.4(BRCA2):c.1568A>T (p.His523Leu)
|
SNV Germline |
Chr13:32333046 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA012447 |
rs_80358443 |
6 SubmittersRCV000112936RCV000575869RCV001852919RCV004808564 |
|
NM_000059.4(BRCA2):c.1573A>T (p.Thr525Ser)
|
SNV Germline |
Chr13:32333051 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012478 |
rs_80358444 |
4 SubmittersRCV000112937RCV003156736RCV002514187 |
|
NM_000059.4(BRCA2):c.1594G>T (p.Glu532Ter)
|
SNV Germline |
Chr13:32333072 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA012541 |
rs_138734772 |
2 SubmittersRCV000257686 |
|
NM_000059.4(BRCA2):c.1627C>A (p.His543Asn)
|
SNV Germline |
Chr13:32333105 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA012670 |
rs_80358446 |
15 SubmittersRCV000077259RCV000504335RCV000510047RCV001800335RCV000985466RCV001321558RCV004803139 |
|
NM_000059.4(BRCA2):c.1630A>G (p.Thr544Ala)
|
SNV Germline |
Chr13:32333108 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA012682 |
rs_80358447 |
9 SubmittersRCV000043846RCV000112944RCV000562189RCV005357290RCV003230378RCV001284411 |
|
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile)
|
SNV Germline |
Chr13:32333109 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012696 |
rs_80358448 |
13 SubmittersRCV000083087RCV000130669RCV000212211RCV000586961RCV001084269 |
|
NM_000059.4(BRCA2):c.1640C>T (p.Ser547Leu)
|
SNV Germline |
Chr13:32333118 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA012716 |
rs_80358449 |
4 SubmittersRCV000043850RCV000112946RCV002399403 |
|
NM_000059.4(BRCA2):c.164A>G (p.Asn55Ser)
|
SNV Germline |
Chr13:32319173 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA012786 |
rs_80358450 |
6 SubmittersRCV000113209RCV000129076RCV000212200RCV001371894RCV005357291 |
|
NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter)
|
SNV Germline |
Chr13:32333148 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA012870 |
rs_80358452 |
16 SubmittersRCV000112952RCV000217402RCV000212212RCV000496933RCV003473307RCV004803141 |
|
NM_000059.4(BRCA2):c.1681G>T (p.Gly561Ter)
|
SNV Germline |
Chr13:32333159 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA012901 |
rs_80358455 |
5 SubmittersRCV000112959RCV001012700RCV001381024RCV004566814 |
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
SNV Germline |
Chr13:32333167 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast 8 conditions |
Reviewed By Expert Panel |
CA012907 |
rs_80358456 |
14 SubmittersRCV000043863RCV000112960RCV000581281RCV000985467RCV001354296RCV003460561RCV005003437 |
|
NM_000059.4(BRCA2):c.171C>G (p.Tyr57Ter)
|
SNV Germline |
Chr13:32319180 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA012997 |
rs_201523522 |
9 SubmittersRCV000241283RCV000509640RCV001284555RCV001852921 |
|
NM_000059.4(BRCA2):c.172G>T (p.Glu58Ter)
|
SNV Germline |
Chr13:32319181 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA013013 |
rs_397507603 |
4 SubmittersRCV001387312RCV000577083RCV000661505 |
|
NM_000059.4(BRCA2):c.1744A>G (p.Thr582Ala)
|
SNV Germline |
Chr13:32333222 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA013045 |
rs_80358457 |
10 SubmittersRCV000043870RCV000112963RCV000130844RCV000761856 |
|
NM_000059.4(BRCA2):c.1748T>A (p.Leu583Ter)
|
SNV Germline |
Chr13:32333226 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Condition: not provided |
Reviewed By Expert Panel |
CA013061 |
rs_397507604 |
8 SubmittersRCV000043871RCV000165753RCV000225624RCV003460562RCV004998145 |
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
SNV Germline |
Chr13:32319184 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Malignant tumor of breast Breast and/or ovarian cancer Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA013107 |
rs_56091799 |
18 SubmittersRCV000077263RCV000120380RCV000131721RCV001358626RCV003492346RCV000724406RCV001081846RCV004537188 |
|
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser)
|
SNV Germline |
Chr13:32333241 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast neoplasm Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA013138 |
rs_373400041 |
12 SubmittersRCV000043876RCV000166539RCV000148439RCV000258376RCV001262544RCV000779918RCV000985469 |
|
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)
|
SNV Germline |
Chr13:32333247 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA013155 |
rs_80358459 |
13 SubmittersRCV000043879RCV000077265RCV000130772RCV000486075RCV000780024RCV001798227 |
|
NM_000059.4(BRCA2):c.1784A>G (p.His595Arg)
|
SNV Germline |
Chr13:32333262 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013206 |
rs_80358460 |
8 SubmittersRCV000112967RCV000586420RCV000776231RCV001316717 |
|
NM_000059.4(BRCA2):c.1789G>T (p.Glu597Ter)
|
SNV Germline |
Chr13:32333267 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA013220 |
rs_80358461 |
2 SubmittersRCV000112969 |
|
NM_000059.4(BRCA2):c.1793C>T (p.Thr598Ile)
|
SNV Germline |
Chr13:32333271 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013244 |
rs_80358462 |
9 SubmittersRCV000112971RCV000509597RCV000758865RCV001313059 |
|
NM_000059.4(BRCA2):c.1800T>G (p.Tyr600Ter)
|
SNV Germline |
Chr13:32333278 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA013323 |
rs_80358464 |
13 SubmittersRCV000077266RCV000162912RCV000418517RCV000496768 |
|
NM_000059.4(BRCA2):c.1817C>A (p.Pro606Gln)
|
SNV Germline |
Chr13:32333295 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA013431 |
rs_80358469 |
3 SubmittersRCV000112981RCV003156738RCV004597736 |
|
NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu)
|
SNV Germline |
Chr13:32333295 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition 8 conditions |
Criteria Provided Conflicting Classifications |
CA013443 |
rs_80358469 |
15 SubmittersRCV000077268RCV000163125RCV000479578RCV000779988RCV001088382RCV004803143RCV005003438 |
|
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)
|
SNV Germline |
Chr13:32333298 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA013463 |
rs_55962656 |
14 SubmittersRCV000043901RCV000077269RCV000163031RCV000436051RCV001262739RCV000859148 |
|
NM_000059.4(BRCA2):c.1825C>G (p.Gln609Glu)
|
SNV Germline |
Chr13:32333303 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA013481 |
rs_80358472 |
11 SubmittersRCV000043902RCV000112982RCV000130263RCV001582539RCV000507323RCV004803144RCV005357293 |
|
NM_000059.4(BRCA2):c.1825C>T (p.Gln609Ter)
|
SNV Germline |
Chr13:32333303 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA013487 |
rs_80358472 |
4 SubmittersRCV000112983RCV001852923RCV002408540 |
|
NM_000059.4(BRCA2):c.1826A>G (p.Gln609Arg)
|
SNV Germline |
Chr13:32333304 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related disorder Cancer or benign tumor BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA013495 |
rs_80358473 |
14 SubmittersRCV000043904RCV000083089RCV000164841RCV000587069RCV000855633RCV004732602RCV005625250RCV004803145 |
|
NM_000059.4(BRCA2):c.1855C>T (p.Gln619Ter)
|
SNV Germline |
Chr13:32333333 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related disorder |
Reviewed By Expert Panel |
CA013627 |
rs_80358476 |
12 SubmittersRCV000043911RCV000112988RCV000216070RCV000254954RCV004724775 |
|
NM_000059.4(BRCA2):c.1875T>A (p.Phe625Leu)
|
SNV Germline |
Chr13:32333353 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA013680 |
rs_80358478 |
7 SubmittersRCV000043914RCV000112989RCV000130677RCV000502441 |
|
NM_000059.4(BRCA2):c.1912T>G (p.Leu638Val)
|
SNV Germline |
Chr13:32336267 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013912 |
rs_80358481 |
4 SubmittersRCV000112994RCV000561741RCV001359390 |
|
NM_000059.4(BRCA2):c.191C>T (p.Thr64Ile)
|
SNV Germline |
Chr13:32319200 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA013923 |
rs_397507615 |
7 SubmittersRCV000215512RCV000588169RCV001306617RCV003473309RCV005357295 |
|
NM_000059.4(BRCA2):c.1951G>T (p.Asp651Tyr)
|
SNV Germline |
Chr13:32336306 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA014008 |
rs_80358482 |
9 SubmittersRCV000112998RCV000132142RCV001313663RCV001354692 |
|
NM_000059.4(BRCA2):c.196C>T (p.Gln66Ter)
|
SNV Germline |
Chr13:32319205 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA014053 |
rs_397507617 |
8 SubmittersRCV000164594RCV000168531RCV000759584RCV001387319 |
|
NM_000059.4(BRCA2):c.2003G>A (p.Arg668Lys)
|
SNV Germline |
Chr13:32336358 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA014104 |
rs_80358483 |
5 SubmittersRCV000043934RCV000113004RCV000212217RCV003156740 |
|
NM_000059.4(BRCA2):c.2024C>G (p.Thr675Arg)
|
SNV Germline |
Chr13:32336379 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA014128 |
rs_80358484 |
8 SubmittersRCV000113006RCV000168556RCV000222018RCV000481560RCV003607209 |
|
NM_000059.4(BRCA2):c.2064T>G (p.Tyr688Ter)
|
SNV Germline |
Chr13:32336419 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA014258 |
rs_80358485 |
4 SubmittersRCV000113009RCV001382568RCV004948153 |
|
NM_000059.4(BRCA2):c.2097G>T (p.Gln699His)
|
SNV Germline |
Chr13:32336452 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial prostate cancer Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA014338 |
rs_80358486 |
13 SubmittersRCV000113013RCV000679158RCV000563839RCV003235004RCV005357296RCV001348807 |
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
SNV Germline |
Chr13:32336477 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions Breast and/or ovarian cancer not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA014385 |
rs_80358488 |
13 SubmittersRCV000043947RCV000113017RCV000130632RCV000216194RCV000763881RCV000735530RCV001194412RCV004803146 |
|
NM_000059.4(BRCA2):c.2125C>G (p.Leu709Val)
|
SNV Germline |
Chr13:32336480 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA014396 |
rs_80358489 |
12 SubmittersRCV000113018RCV000236275RCV000164754RCV001297703RCV004537189RCV004803147RCV005357297RCV005237466 |
|
NM_000059.4(BRCA2):c.2135T>C (p.Leu712Pro)
|
SNV Germline |
Chr13:32336490 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA014418 |
rs_80358490 |
10 SubmittersRCV000043949RCV000113019RCV000131476RCV000590581 |
|
NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser)
|
SNV Germline |
Chr13:32319224 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Infiltrating duct carcinoma of breast Hereditary cancer-predisposing syndrome not specified Ovarian cancer Familial cancer of breast Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA014475 |
rs_276174818 |
13 SubmittersRCV000043952RCV000113284RCV000212202RCV000677865RCV000562408RCV001778687RCV003153333RCV002250508RCV005357298 |
|
NM_000059.4(BRCA2):c.2175A>T (p.Lys725Asn)
|
SNV Germline |
Chr13:32336530 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA014530 |
rs_80358491 |
3 SubmittersRCV000113020RCV001852924RCV003156742 |
|
NM_000059.4(BRCA2):c.2187A>G (p.Ile729Met)
|
SNV Germline |
Chr13:32336542 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA014573 |
rs_397507620 |
7 SubmittersRCV000326298RCV001304293RCV001014696RCV003996471RCV004767037 |
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
SNV Germline |
Chr13:32336579 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast 8 conditions BRCA2-related disorder |
Reviewed By Expert Panel |
CA014670 |
rs_80358494 |
16 SubmittersRCV000077273RCV000212220RCV000496760RCV000568409RCV003473311RCV002490602RCV004732603 |
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
SNV Germline |
Chr13:32336600 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified 8 conditions BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA014730 |
rs_80358495 |
13 SubmittersRCV000043961RCV000113026RCV000129533RCV000481492RCV001193201RCV002477144RCV004537190 |
|
NM_000059.4(BRCA2):c.2260C>A (p.Gln754Lys)
|
SNV Germline |
Chr13:32336615 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA014802 |
rs_80358496 |
3 SubmittersRCV000113028RCV004803148RCV003156745 |
|
NM_000059.4(BRCA2):c.227C>G (p.Ser76Ter)
|
SNV Germline |
Chr13:32319236 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA014851 |
rs_80358498 |
3 SubmittersRCV000113296 |
|
NM_000059.4(BRCA2):c.2303C>T (p.Thr768Ile)
|
SNV Germline |
Chr13:32336658 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA014909 |
rs_55824746 |
8 SubmittersRCV000113030RCV000218187RCV000214463RCV001297725 |
|
NM_000059.4(BRCA2):c.2324C>T (p.Ser775Phe)
|
SNV Germline |
Chr13:32336679 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA014938 |
rs_276174820 |
3 SubmittersRCV000113032RCV001349389RCV003156747 |
|
NM_000059.4(BRCA2):c.2357C>G (p.Ser786Cys)
|
SNV Germline |
Chr13:32336712 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA015031 |
rs_80358501 |
6 SubmittersRCV000113035RCV000499976RCV001315892RCV000773259 |
|
NM_000059.4(BRCA2):c.2372C>A (p.Ser791Ter)
|
SNV Germline |
Chr13:32336727 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA015065 |
rs_397507624 |
2 SubmittersRCV000577387RCV000661619 |
|
NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter)
|
SNV Germline |
Chr13:32336731 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA015072 |
rs_80358503 |
13 SubmittersRCV000043981RCV000077277RCV000131058RCV001781369RCV003460566 |
|
NM_000059.4(BRCA2):c.2399G>T (p.Gly800Val)
|
SNV Germline |
Chr13:32336754 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015127 |
rs_276174821 |
3 SubmittersRCV000113036RCV003156748RCV002513642 |
|
NM_000059.4(BRCA2):c.240A>G (p.Ile80Met)
|
SNV Germline |
Chr13:32319249 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA015159 |
rs_80358505 |
9 SubmittersRCV000043985RCV000113305RCV000130843RCV000781151RCV001283918RCV003460567 |
|
NM_000059.4(BRCA2):c.2417A>G (p.Asp806Gly)
|
SNV Germline |
Chr13:32336772 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015187 |
rs_80358506 |
5 SubmittersRCV000083091RCV001015276RCV001852926 |
|
NM_000059.4(BRCA2):c.2428A>G (p.Thr810Ala)
|
SNV Germline |
Chr13:32336783 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Endometrial carcinoma BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA015228 |
rs_80358508 |
9 SubmittersRCV000043990RCV000077278RCV000564107RCV000508135RCV001354265RCV004732604 |
|
NM_000059.4(BRCA2):c.2429C>T (p.Thr810Ile)
|
SNV Germline |
Chr13:32336784 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA015239 |
rs_80358509 |
8 SubmittersRCV000043991RCV000113039RCV000131752RCV000254641 |
|
NM_000059.4(BRCA2):c.2441C>T (p.Pro814Leu)
|
SNV Germline |
Chr13:32336796 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015273 |
rs_80358510 |
6 SubmittersRCV000113044RCV001015557RCV000484505RCV001363912 |
|
NM_000059.4(BRCA2):c.244A>T (p.Lys82Ter)
|
SNV Germline |
Chr13:32319253 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA015328 |
rs_397507628 |
4 SubmittersRCV000257796RCV000496688RCV004589534 |
|
NM_000059.4(BRCA2):c.2455C>T (p.Gln819Ter)
|
SNV Germline |
Chr13:32336810 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA015343 |
rs_397507629 |
2 SubmittersRCV000257203 |
|
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly)
|
SNV Germline |
Chr13:32336814 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related disorder Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA015354 |
rs_80358511 |
15 SubmittersRCV000044000RCV000077279RCV000130196RCV000435008RCV001084667RCV004528241RCV005357299 |
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
SNV Germline |
Chr13:32336819 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified 8 conditions |
Criteria Provided Conflicting Classifications |
CA015378 |
rs_80358512 |
11 SubmittersRCV000044001RCV000077280RCV000220861RCV001550754RCV000780041RCV002504933 |
|
NM_000059.4(BRCA2):c.2471T>G (p.Leu824Ter)
|
SNV Germline |
Chr13:32336826 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA015407 |
rs_397507631 |
8 SubmittersRCV000044003RCV000257389RCV000506370RCV002453345RCV003473314 |
|
NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter)
|
SNV Germline/somatic |
Chr13:32319259 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related disorder Familial cancer of breast |
Reviewed By Expert Panel |
CA015512 |
rs_80358515 |
15 SubmittersRCV000044007RCV000077281RCV000195353RCV000564855RCV004724776RCV003473315 |
|
NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter)
|
SNV Germline |
Chr13:32336872 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast and/or ovarian cancer |
Reviewed By Expert Panel |
CA015526 |
rs_80358516 |
12 SubmittersRCV000223462RCV000113053RCV000131057RCV001385315RCV003473316RCV001270986 |
|
NM_000059.4(BRCA2):c.2528C>T (p.Ala843Val)
|
SNV Germline |
Chr13:32336883 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015568 |
rs_80358517 |
7 SubmittersRCV000113055RCV000483891RCV000219470RCV000781048RCV001321081 |
|
NM_000059.4(BRCA2):c.2537C>G (p.Ser846Ter)
|
SNV Germline |
Chr13:32336892 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA015578 |
rs_80358518 |
5 SubmittersRCV000113056RCV001387564RCV003473317 |
|
NM_000059.4(BRCA2):c.2561A>G (p.Asn854Ser)
|
SNV Germline |
Chr13:32336916 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015650 |
rs_80358520 |
9 SubmittersRCV000113061RCV000219656RCV000766391RCV001343602 |
|
NM_000059.4(BRCA2):c.2599A>G (p.Thr867Ala)
|
SNV Germline |
Chr13:32336954 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA015783 |
rs_80358522 |
5 SubmittersRCV000113068RCV000572035RCV001852927RCV003607210 |
|
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)
|
SNV Germline |
Chr13:32336961 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast Fanconi anemia complementation group D1 Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA015810 |
rs_80358523 |
9 SubmittersRCV000113070RCV000163028RCV001339978RCV001357214RCV001109534RCV004691733 |
|
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)
|
SNV Germline |
Chr13:32336967 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Prostate cancer BRCA2-related disorder Malignant tumor of breast Condition: not provided |
Reviewed By Expert Panel |
CA015821 |
rs_397507634 |
13 SubmittersRCV000077282RCV000590670RCV000213349RCV001027675RCV004732605RCV001357295RCV003114227 |
|
NM_000059.4(BRCA2):c.2657A>T (p.Asn886Ile)
|
SNV Germline |
Chr13:32337012 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015961 |
rs_80358526 |
6 SubmittersRCV000113074RCV003156751RCV003153334RCV001345499 |
|
NM_000059.4(BRCA2):c.2678A>G (p.Gln893Arg)
|
SNV Germline |
Chr13:32337033 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA016015 |
rs_276174827 |
3 SubmittersRCV000113075RCV001345255RCV003156752 |
|
NM_000059.4(BRCA2):c.2735C>T (p.Thr912Ile)
|
SNV Germline |
Chr13:32337090 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016183 |
rs_276174828 |
4 SubmittersRCV000113086RCV000221941RCV005089409 |
|
NM_000059.4(BRCA2):c.273C>A (p.Tyr91Ter)
|
SNV Germline |
Chr13:32319282 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA016201 |
rs_145988146 |
2 SubmittersRCV000241355 |
|
NM_000059.4(BRCA2):c.273C>G (p.Tyr91Ter)
|
SNV Germline |
Chr13:32319282 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA016209 |
rs_145988146 |
3 SubmittersRCV000257002RCV002514189 |
|
NM_000059.4(BRCA2):c.2748T>A (p.Cys916Ter)
|
SNV Germline |
Chr13:32337103 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Inherited ovarian cancer (without breast cancer) |
Reviewed By Expert Panel |
CA016242 |
rs_397507638 |
4 SubmittersRCV000257471RCV004584140 |
|
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile)
|
SNV Germline |
Chr13:32337126 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA016313 |
rs_80358530 |
11 SubmittersRCV000113089RCV000130266RCV000585963RCV001079700RCV002267809 |
|
NM_000059.4(BRCA2):c.2798C>G (p.Thr933Arg)
|
SNV Germline |
Chr13:32337153 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA016389 |
rs_276174830 |
6 SubmittersRCV000077286RCV001314174RCV001191192 |
|
NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu)
|
SNV Germline |
Chr13:32337168 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA016486 |
rs_55773834 |
13 SubmittersRCV000044067RCV000083094RCV000130944RCV001797611RCV000587088RCV004528242 |
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
SNV Germline |
Chr13:32337185 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Ovarian neoplasm Malignant tumor of breast BRCA2-related cancer predisposition BRCA2-related disorder 8 conditions |
Reviewed By Expert Panel |
CA016531 |
rs_80358533 |
40 SubmittersRCV000044070RCV000077287RCV000131101RCV000212222RCV000496649RCV001028039RCV000785217RCV001358552RCV004803151RCV004724777RCV004795965 |
|
NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly)
|
SNV Germline |
Chr13:32337192 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA016584 |
rs_55972907 |
8 SubmittersRCV000113103RCV000132081RCV001445276RCV000855581RCV000588917 |
|
NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp)
|
SNV Germline |
Chr13:32337204 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016619 |
rs_80358535 |
8 SubmittersRCV000113105RCV000120346RCV000222954RCV000587157RCV002514190 |
|
NM_000059.4(BRCA2):c.2854G>T (p.Ala952Ser)
|
SNV Germline |
Chr13:32337209 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016630 |
rs_80358536 |
6 SubmittersRCV000113107RCV000773198RCV000985488RCV001319853 |
|
NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter)
|
SNV Germline |
Chr13:32337236 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA016668 |
rs_80358538 |
6 SubmittersRCV000077288RCV002514191 |
|
NM_000059.4(BRCA2):c.2899C>G (p.Leu967Val)
|
SNV Germline |
Chr13:32337254 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016713 |
rs_80358539 |
4 SubmittersRCV000113111RCV003156753RCV005089410 |
|
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter)
|
SNV Germline |
Chr13:32319298 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA016722 |
rs_397507646 |
13 SubmittersRCV000083095RCV000166898RCV000214710RCV000709286RCV003473320 |
|
NM_000059.4(BRCA2):c.2912T>G (p.Leu971Ter)
|
SNV Germline |
Chr13:32337267 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA016757 |
rs_397507647 |
2 SubmittersRCV000257832 |
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
SNV Germline |
Chr13:32337299 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA016848 |
rs_28897717 |
16 SubmittersRCV000044090RCV000113118RCV000167800RCV000131312RCV001353864RCV000587861 |
|
NM_000059.4(BRCA2):c.2950G>T (p.Glu984Ter)
|
SNV Germline |
Chr13:32337305 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA016874 |
rs_397507648 |
3 SubmittersRCV000577557RCV000661522 |
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
SNV Germline |
Chr13:32337312 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA016896 |
rs_28897718 |
16 SubmittersRCV000113119RCV000129122RCV000168561RCV000586870RCV000735534RCV001080867RCV004541233 |
|
NM_000059.4(BRCA2):c.298A>T (p.Lys100Ter)
|
SNV Germline |
Chr13:32319307 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Breast-ovarian cancer, familial, susceptibility to, 1 |
Reviewed By Expert Panel |
CA016977 |
rs_80358546 |
4 SubmittersRCV000044099RCV000113370RCV001310165 |
|
NM_000059.4(BRCA2):c.2990T>A (p.Leu997Ter)
|
SNV Germline |
Chr13:32337345 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA016989 |
rs_397507649 |
2 SubmittersRCV000577014RCV000661889 |
|
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)
|
SNV Germline |
Chr13:32316462 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA017005 |
rs_80358547 |
4 SubmittersRCV000165930RCV000662990RCV000781042 |
|
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg)
|
SNV Germline |
Chr13:32316462 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA017013 |
rs_80358547 |
11 SubmittersRCV000044102RCV000113010RCV000131870RCV000759594 |
|
NM_000059.4(BRCA2):c.3043A>T (p.Lys1015Ter)
|
SNV Germline |
Chr13:32337398 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA017082 |
rs_397507652 |
2 SubmittersRCV000256630 |
|
NM_000059.4(BRCA2):c.305A>G (p.Lys102Arg)
|
SNV Germline |
Chr13:32319314 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA017117 |
rs_80358549 |
7 SubmittersRCV000113382RCV001182331RCV001364084RCV003607211RCV004808565 |
|
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)
|
SNV Germline |
Chr13:32337428 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA017162 |
rs_80358550 |
16 SubmittersRCV000044112RCV000077290RCV000131460RCV000586348RCV001083912RCV003149675RCV001354029 |
|
NM_000059.4(BRCA2):c.3075G>T (p.Lys1025Asn)
|
SNV Germline |
Chr13:32337430 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017186 |
rs_80358551 |
4 SubmittersRCV000113131RCV001018476 |
|
NM_000059.4(BRCA2):c.3076A>T (p.Lys1026Ter)
|
SNV Germline |
Chr13:32337431 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Condition: not provided |
Reviewed By Expert Panel |
CA017194 |
rs_80358552 |
8 SubmittersRCV000113132RCV001018494RCV000496493RCV001271031RCV002254907 |
|
NM_000059.4(BRCA2):c.3085A>G (p.Met1029Val)
|
SNV Germline |
Chr13:32337440 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017207 |
rs_80358553 |
10 SubmittersRCV000083096RCV000484779RCV001361254RCV003607212RCV002321539 |
|
NM_000059.4(BRCA2):c.3088T>G (p.Phe1030Val)
|
SNV Germline |
Chr13:32337443 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA017215 |
rs_80358554 |
11 SubmittersRCV000044116RCV000077291RCV000165765RCV000214139 |
|
NM_000059.4(BRCA2):c.3092T>C (p.Phe1031Ser)
|
SNV Germline |
Chr13:32337447 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017224 |
rs_80358555 |
3 SubmittersRCV000113133RCV001185971 |
|
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter)
|
SNV Germline |
Chr13:32337458 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Rhabdomyosarcoma Familial cancer of breast BRCA2-related disorder BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA017241 |
rs_80358556 |
21 SubmittersRCV000044119RCV000077292RCV000131104RCV000212224RCV000508209RCV001257547RCV003473323RCV004732608RCV004803154 |
|
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)
|
SNV Germline |
Chr13:32337492 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 not specified |
Criteria Provided Conflicting Classifications |
CA017285 |
rs_80358559 |
10 SubmittersRCV000044123RCV000113138RCV000129709RCV000483875RCV001535463RCV000779942 |
|
NM_000059.4(BRCA2):c.3142G>A (p.Val1048Ile)
|
SNV Germline |
Chr13:32337497 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017293 |
rs_80358560 |
3 SubmittersRCV000113139RCV001366576RCV003156757 |
|
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)
|
SNV Germline |
Chr13:32319323 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer |
Reviewed By Expert Panel |
CA017305 |
rs_80358561 |
10 SubmittersRCV000077293RCV000219806RCV000496591RCV001358503RCV003473324RCV000735536 |
|
NM_000059.4(BRCA2):c.316+2T>C
|
SNV Germline |
Chr13:32319327 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Gastric cancer |
Reviewed By Expert Panel |
CA017370 |
rs_81002805 |
9 SubmittersRCV000113397RCV000131849RCV001384949RCV000759596RCV004566818RCV003162368 |
|
NM_000059.4(BRCA2):c.316+5G>A
|
SNV Germline/somatic |
Chr13:32319330 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer 8 conditions Malignant tumor of urinary bladder |
Reviewed By Expert Panel |
CA017381 |
rs_81002840 |
18 SubmittersRCV000044130RCV000077294RCV000216220RCV000486888RCV003338395RCV000735537RCV005394271RCV003332098 |
|
NM_000059.4(BRCA2):c.316+5G>C
|
SNV Germline |
Chr13:32319330 |
Pathogenic |
Familial cancer of breast Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA017387 |
rs_81002840 |
7 SubmittersRCV000577435RCV000588126RCV000759597RCV001000109RCV001018884 |
|
NM_000059.4(BRCA2):c.3166C>T (p.Gln1056Ter)
|
SNV Germline |
Chr13:32337521 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Reviewed By Expert Panel |
CA017394 |
rs_79728106 |
14 SubmittersRCV000044134RCV000077295RCV000223645RCV003473326RCV004700318 |
|
NM_000059.4(BRCA2):c.3170A>G (p.Lys1057Arg)
|
SNV Germline |
Chr13:32337525 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017433 |
rs_80358562 |
8 SubmittersRCV000113142RCV000709307RCV004700319RCV003156758 |
|
NM_000059.4(BRCA2):c.3206C>T (p.Ser1069Phe)
|
SNV Germline |
Chr13:32337561 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA017538 |
rs_80358563 |
11 SubmittersRCV000044147RCV000113147RCV000165150RCV000985496RCV004562231RCV004542696 |
|
NM_000059.4(BRCA2):c.3211C>T (p.His1071Tyr)
|
SNV Germline |
Chr13:32337566 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified 8 conditions |
Criteria Provided Conflicting Classifications |
CA017559 |
rs_80358564 |
12 SubmittersRCV000113148RCV000212225RCV000572282RCV001299345RCV004799761RCV005003440 |
|
NM_000059.4(BRCA2):c.3212A>G (p.His1071Arg)
|
SNV Germline |
Chr13:32337567 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA017566 |
rs_80358565 |
7 SubmittersRCV000077297RCV000220168RCV003476922RCV001365804 |
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
SNV Germline |
Chr13:32325082 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Malignant tumor of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified 8 conditions |
Criteria Provided Conflicting Classifications |
CA017610 |
rs_80358568 |
15 SubmittersRCV000077298RCV000221445RCV000166938RCV000315720RCV001356621RCV001372390RCV002250509RCV002267810RCV005007965 |
|
NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg)
|
SNV Germline |
Chr13:32337600 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA017616 |
rs_80358569 |
12 SubmittersRCV000113150RCV000569193RCV000587691RCV001361625RCV003488363RCV004803156 |
|
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg)
|
SNV Germline |
Chr13:32337609 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA017628 |
rs_80358570 |
15 SubmittersRCV000044157RCV000077299RCV000220389RCV000432492RCV001701731 |
|
NM_000059.4(BRCA2):c.3256A>G (p.Ile1086Val)
|
SNV Germline |
Chr13:32337611 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm not specified Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA017635 |
rs_80358571 |
12 SubmittersRCV000044158RCV000077300RCV000240692RCV000419030RCV000509892RCV000589377 |
|
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)
|
SNV Germline |
Chr13:32337620 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 8 conditions Familial cancer of breast |
Reviewed By Expert Panel |
CA017668 |
rs_80358573 |
10 SubmittersRCV000113153RCV000509972RCV001852931RCV001310144RCV004795968RCV003473328 |
|
NM_000059.4(BRCA2):c.3270G>C (p.Met1090Ile)
|
SNV Germline |
Chr13:32337625 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA017687 |
rs_80358574 |
6 SubmittersRCV000113155RCV001314298RCV001191193RCV001194441 |
|
NM_000059.4(BRCA2):c.3283C>T (p.Gln1095Ter)
|
SNV Germline |
Chr13:32337638 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA017706 |
rs_397507662 |
6 SubmittersRCV000162053RCV001528536 |
|
NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter)
|
SNV Germline |
Chr13:32337651 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Gastric cancer Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA017733 |
rs_397507663 |
5 SubmittersRCV001019755RCV000779972RCV000577700RCV003162370RCV000661739 |
|
NM_000059.4(BRCA2):c.3301C>T (p.His1101Tyr)
|
SNV Germline |
Chr13:32337656 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017742 |
rs_80358576 |
3 SubmittersRCV000113160RCV000565412 |
|
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro)
|
SNV Germline |
Chr13:32337665 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA017768 |
rs_80358577 |
12 SubmittersRCV000044176RCV000083097RCV000163592RCV000758881RCV000781094RCV004803157 |
|
NM_000059.4(BRCA2):c.3319C>T (p.Gln1107Ter)
|
SNV Germline |
Chr13:32337674 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA017774 |
rs_80358578 |
7 SubmittersRCV000113162RCV000162918RCV001382649 |
|
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)
|
SNV Germline |
Chr13:32337681 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA017785 |
rs_41293479 |
12 SubmittersRCV000044178RCV000077301RCV000203645RCV000129186RCV000586235 |
|
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter)
|
SNV Germline |
Chr13:32337717 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA017866 |
rs_80358579 |
12 SubmittersRCV000077302RCV000131100RCV000219700RCV001353553RCV000504065RCV003460570 |
|
NM_000059.4(BRCA2):c.3367A>G (p.Ser1123Gly)
|
SNV Germline |
Chr13:32337722 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA017884 |
rs_80358581 |
7 SubmittersRCV000113166RCV002453346RCV003114228RCV001368662 |
|
NM_000059.4(BRCA2):c.3413A>T (p.Gln1138Leu)
|
SNV Germline |
Chr13:32337768 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA017965 |
rs_80358584 |
8 SubmittersRCV000113173RCV000509872RCV004803158RCV001302307RCV002468996 |
|
NM_000059.4(BRCA2):c.3419G>C (p.Ser1140Thr)
|
SNV Germline |
Chr13:32337774 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA017980 |
rs_80358585 |
6 SubmittersRCV000113174RCV003476923RCV002453347RCV001343730RCV005357302 |
|
NM_000059.4(BRCA2):c.341A>G (p.His114Arg)
|
SNV Germline |
Chr13:32325100 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA017983 |
rs_80358586 |
8 SubmittersRCV000044189RCV000113436RCV000568060RCV000214245 |
|
NM_000059.4(BRCA2):c.3431T>G (p.Val1144Gly)
|
SNV Germline |
Chr13:32337786 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA017998 |
rs_80358587 |
10 SubmittersRCV000083098RCV000129914RCV001434940RCV001703943RCV005357303 |
|
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu)
|
SNV Germline |
Chr13:32325102 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA018014 |
rs_56242644 |
9 SubmittersRCV000113438RCV000129695RCV000235137RCV000586594RCV001367677 |
|
NM_000059.4(BRCA2):c.3442C>T (p.Gln1148Ter)
|
SNV Germline |
Chr13:32337797 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA018022 |
rs_397507667 |
6 SubmittersRCV000256705RCV004803159RCV000657569RCV003162371 |
|
NM_000059.4(BRCA2):c.3451A>G (p.Ile1151Val)
|
SNV Germline |
Chr13:32337806 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018064 |
rs_80358591 |
9 SubmittersRCV000044197RCV000113178RCV000214609RCV000502245RCV001775562 |
|
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter)
|
SNV Germline |
Chr13:32337810 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Malignant tumor of breast |
Reviewed By Expert Panel |
CA018097 |
rs_80358593 |
11 SubmittersRCV000113180RCV000505837RCV000509646RCV001852933RCV003460571RCV001356768 |
|
NM_000059.4(BRCA2):c.3458A>G (p.Lys1153Arg)
|
SNV Germline |
Chr13:32337813 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA018105 |
rs_80358594 |
10 SubmittersRCV000044202RCV000113181RCV000129509RCV000588905RCV002468997 |
|
NM_000059.4(BRCA2):c.3469G>T (p.Glu1157Ter)
|
SNV Germline |
Chr13:32337824 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA018132 |
rs_80358595 |
4 SubmittersRCV000113183RCV000506506RCV002453348 |
|
NM_000059.4(BRCA2):c.3496G>A (p.Val1166Ile)
|
SNV Germline |
Chr13:32337851 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018177 |
rs_80358596 |
7 SubmittersRCV000113184RCV000507432RCV000509836RCV001339276RCV004803161 |
|
NM_000059.4(BRCA2):c.3499A>G (p.Ile1167Val)
|
SNV Germline |
Chr13:32337854 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA018187 |
rs_276174834 |
8 SubmittersRCV000113185RCV000212230RCV001020449RCV005357304RCV005417446RCV001423831 |
|
NM_000059.4(BRCA2):c.34T>G (p.Phe12Val)
|
SNV Germline |
Chr13:32316494 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018197 |
rs_80358597 |
12 SubmittersRCV000077304RCV000129690RCV000255640RCV001367891RCV002307379RCV004566819RCV004803162 |
|
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys)
|
SNV Germline |
Chr13:32337858 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018209 |
rs_80358598 |
12 SubmittersRCV000044210RCV000083099RCV000163591RCV000759598RCV000781095RCV004803163 |
|
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp)
|
SNV Germline |
Chr13:32337870 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related disorder Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA018223 |
rs_80358600 |
15 SubmittersRCV000044212RCV000077305RCV000222703RCV000985504RCV000781071RCV002513644RCV005357305 |
|
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg)
|
SNV Germline |
Chr13:32337894 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA018286 |
rs_28897720 |
16 SubmittersRCV000044217RCV000077307RCV000129986RCV000657117RCV000219144RCV005364922 |
|
NM_000059.4(BRCA2):c.3598T>A (p.Cys1200Ser)
|
SNV Germline |
Chr13:32337953 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA018392 |
rs_80358607 |
5 SubmittersRCV000113194RCV001360297RCV003156761 |
|
NM_000059.4(BRCA2):c.3622T>A (p.Leu1208Ile)
|
SNV Germline |
Chr13:32337977 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA018418 |
rs_80358608 |
4 SubmittersRCV000113198RCV003644869RCV002453350 |
|
NM_000059.4(BRCA2):c.3635A>T (p.Asn1212Ile)
|
SNV Germline |
Chr13:32337990 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018434 |
rs_80358609 |
9 SubmittersRCV000044232RCV000113199RCV000166119RCV000588318 |
|
NM_000059.4(BRCA2):c.3655T>C (p.Phe1219Leu)
|
SNV Germline |
Chr13:32338010 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA018474 |
rs_80358610 |
4 SubmittersRCV000113202RCV002453352RCV001305686 |
|
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro)
|
SNV Germline |
Chr13:32338016 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA018488 |
rs_80358611 |
13 SubmittersRCV000044238RCV000077310RCV000132318RCV000195368RCV001719794RCV001798231 |
|
NM_000059.4(BRCA2):c.3677A>T (p.Lys1226Ile)
|
SNV Germline |
Chr13:32338032 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA018539 |
rs_80358612 |
6 SubmittersRCV000044240RCV000113205RCV000165157 |
|
NM_000059.4(BRCA2):c.3697G>A (p.Ala1233Thr)
|
SNV Germline |
Chr13:32338052 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related disorder Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018594 |
rs_80358613 |
9 SubmittersRCV000113208RCV000773261RCV004528243RCV001319239RCV002509189RCV004998147 |
|
NM_000059.4(BRCA2):c.3742A>C (p.Ser1248Arg)
|
SNV Germline |
Chr13:32338097 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA018688 |
rs_80358614 |
5 SubmittersRCV000113212RCV001852936RCV003156762 |
|
NM_000059.4(BRCA2):c.3748G>T (p.Glu1250Ter)
|
SNV Germline |
Chr13:32338103 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA018710 |
rs_80358615 |
2 SubmittersRCV000113213 |
|
NM_000059.4(BRCA2):c.3749A>G (p.Glu1250Gly)
|
SNV Germline |
Chr13:32338104 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA018716 |
rs_56400215 |
10 SubmittersRCV000044256RCV000113214RCV000212231RCV000129769RCV001194411 |
|
NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu)
|
SNV Germline |
Chr13:32325134 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018731 |
rs_80358616 |
9 SubmittersRCV000113487RCV000132463RCV001318499RCV000588594 |
|
NM_000059.4(BRCA2):c.3763G>T (p.Val1255Leu)
|
SNV Germline |
Chr13:32338118 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA018742 |
rs_80358617 |
5 SubmittersRCV000077312RCV001363809RCV001021082 |
|
NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro)
|
SNV Germline |
Chr13:32338122 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018748 |
rs_80358618 |
11 SubmittersRCV000113216RCV001355615RCV000561816RCV005055546RCV001312276RCV002247431RCV004803167 |
|
NM_000059.4(BRCA2):c.3767A>G (p.His1256Arg)
|
SNV Germline |
Chr13:32338122 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA018755 |
rs_80358618 |
10 SubmittersRCV000113217RCV001298086RCV000575182RCV004808567RCV003607213 |
|
NM_000059.4(BRCA2):c.3782C>G (p.Ser1261Cys)
|
SNV Germline |
Chr13:32338137 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018805 |
rs_276174836 |
4 SubmittersRCV000113218RCV001365576RCV003156763RCV005250003 |
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
SNV Germline |
Chr13:32338140 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related disorder 8 conditions Inherited ovarian cancer (without breast cancer) Familial cancer of breast |
Reviewed By Expert Panel |
CA018810 |
rs_80358620 |
19 SubmittersRCV000044266RCV000113219RCV000129108RCV000481804RCV001535648RCV002490604RCV004782033RCV003460575 |
|
NM_000059.4(BRCA2):c.379G>T (p.Ala127Ser)
|
SNV Germline |
Chr13:32325138 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018828 |
rs_80358621 |
6 SubmittersRCV000077313RCV000580114RCV001318010RCV004803168 |
|
NM_000059.4(BRCA2):c.37G>T (p.Glu13Ter)
|
SNV Germline |
Chr13:32316497 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA018834 |
rs_80358622 |
11 SubmittersRCV000113040RCV002354227RCV001382700RCV003321490 |
|
NM_000059.4(BRCA2):c.3812C>A (p.Ser1271Ter)
|
SNV Germline |
Chr13:32338167 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Reviewed By Expert Panel |
CA018857 |
rs_80358623 |
3 SubmittersRCV000113222RCV003460576 |
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
SNV Germline |
Chr13:32338169 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Malignant tumor of breast BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018861 |
rs_80358624 |
14 SubmittersRCV000044271RCV000203673RCV000083100RCV000130732RCV001353829RCV004803169RCV001703944 |
|
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)
|
SNV Germline |
Chr13:32338179 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018880 |
rs_80358625 |
12 SubmittersRCV000044272RCV000083101RCV000132466RCV001112374RCV000985512RCV002271387RCV004803170 |
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
SNV Germline |
Chr13:32338190 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome 8 conditions Condition: not provided Malignant tumor of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018891 |
rs_80358626 |
14 SubmittersRCV000077314RCV000130851RCV000221261RCV000709309RCV000763886RCV000657036RCV001353872RCV004803171 |
|
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly)
|
SNV Germline |
Chr13:32325142 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA018912 |
rs_80358627 |
13 SubmittersRCV000044279RCV000113501RCV000131922RCV000586960RCV001175373RCV003460577 |
|
NM_000059.4(BRCA2):c.3856A>G (p.Lys1286Glu)
|
SNV Germline |
Chr13:32338211 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA018967 |
rs_80358629 |
3 SubmittersRCV000113227RCV001295751RCV003156765 |
|
NM_000059.4(BRCA2):c.3863A>T (p.Asn1288Ile)
|
SNV Germline |
Chr13:32338218 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA019007 |
rs_80358630 |
6 SubmittersRCV000044290RCV000113231RCV000735543RCV001176137 |
|
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter)
|
SNV Germline |
Chr13:32338226 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA019043 |
rs_80358631 |
7 SubmittersRCV000113234RCV003473333RCV003529932 |
|
NM_000059.4(BRCA2):c.3881T>A (p.Leu1294Ter)
|
SNV Germline |
Chr13:32338236 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA019063 |
rs_80358632 |
5 SubmittersRCV000113235RCV001381531RCV004696655 |
|
NM_000059.4(BRCA2):c.3893T>C (p.Ile1298Thr)
|
SNV Germline |
Chr13:32338248 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA019075 |
rs_80358633 |
9 SubmittersRCV000113236RCV001303991RCV000566464RCV000985514RCV003147332RCV004595902 |
|
NM_000059.4(BRCA2):c.3914T>C (p.Phe1305Ser)
|
SNV Germline |
Chr13:32338269 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019159 |
rs_80358635 |
3 SubmittersRCV000113241RCV003156767RCV005089412 |
|
NM_000059.4(BRCA2):c.3917T>C (p.Val1306Ala)
|
SNV Germline |
Chr13:32338272 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA019180 |
rs_80358637 |
3 SubmittersRCV000113242RCV001852938RCV003156768 |
|
NM_000059.4(BRCA2):c.3938A>C (p.Tyr1313Ser)
|
SNV Germline |
Chr13:32338293 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial colorectal cancer type X |
Criteria Provided Conflicting Classifications |
CA019228 |
rs_80358639 |
4 SubmittersRCV000113244RCV003156769RCV001370201RCV005357308 |
|
NM_000059.4(BRCA2):c.3938A>G (p.Tyr1313Cys)
|
SNV Germline |
Chr13:32338293 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019236 |
rs_80358639 |
3 SubmittersRCV000113245RCV003156770RCV005089413 |
|
NM_000059.4(BRCA2):c.3939C>A (p.Tyr1313Ter)
|
SNV Germline |
Chr13:32338294 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA019241 |
rs_80358641 |
5 SubmittersRCV000113246RCV001383062RCV002371860 |
|
NM_000059.4(BRCA2):c.3958G>T (p.Glu1320Ter)
|
SNV Germline |
Chr13:32338313 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA019267 |
rs_80358644 |
7 SubmittersRCV000113251RCV000773262RCV001382677 |
|
NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly)
|
SNV Germline |
Chr13:32338317 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial colorectal cancer type X not specified |
Criteria Provided Conflicting Classifications |
CA019277 |
rs_80358645 |
12 SubmittersRCV000113252RCV000212233RCV000571707RCV001320562RCV005357309RCV002267811 |
|
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)
|
SNV Germline |
Chr13:32338320 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019283 |
rs_80358646 |
12 SubmittersRCV000113253RCV000770722RCV000165691RCV000483586RCV000780038RCV001325825 |
|
NM_000059.4(BRCA2):c.3966C>G (p.Asn1322Lys)
|
SNV Germline |
Chr13:32338321 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition not specified |
Criteria Provided Conflicting Classifications |
CA019298 |
rs_80358647 |
10 SubmittersRCV000077317RCV000572841RCV001306019RCV000759607RCV004803172RCV000781155 |
|
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)
|
SNV Germline |
Chr13:32338322 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Familial cancer of breast |
Reviewed By Expert Panel |
CA019306 |
rs_80358648 |
12 SubmittersRCV000113255RCV000131094RCV000485337RCV001193724RCV004803173RCV003473334 |
|
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)
|
SNV Germline |
Chr13:32316463 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Condition: not provided |
Reviewed By Expert Panel |
CA019362 |
rs_80358650 |
16 SubmittersRCV000044328RCV000083102RCV000162893RCV001271035RCV003237421 |
|
NM_000059.4(BRCA2):c.4001T>A (p.Leu1334Ter)
|
SNV Germline |
Chr13:32338356 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA019375 |
rs_80358652 |
5 SubmittersRCV000113257RCV001804769 |
|
NM_000059.4(BRCA2):c.4039G>C (p.Val1347Leu)
|
SNV Germline |
Chr13:32338394 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA019421 |
rs_80358653 |
7 SubmittersRCV000113264RCV001326562RCV000520753RCV000570365 |
|
NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter)
|
SNV Germline |
Chr13:32338450 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided |
Reviewed By Expert Panel |
CA019517 |
rs_80358658 |
10 SubmittersRCV000113273RCV000447449RCV001383063RCV003460579RCV002465497 |
|
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)
|
SNV Germline/somatic |
Chr13:32338466 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Malignant tumor of urinary bladder Familial cancer of breast |
Reviewed By Expert Panel |
CA019545 |
rs_80358659 |
16 SubmittersRCV000044353RCV000077320RCV000131073RCV000478066RCV001310148RCV003332099RCV003473335 |
|
NM_000059.4(BRCA2):c.416T>C (p.Leu139Pro)
|
SNV Germline |
Chr13:32325175 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA019660 |
rs_80358660 |
7 SubmittersRCV000113552RCV000216759RCV001308115RCV004767038 |
|
NM_000059.4(BRCA2):c.4174G>A (p.Val1392Ile)
|
SNV Germline |
Chr13:32338529 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA019667 |
rs_80358661 |
9 SubmittersRCV000044367RCV000113283RCV000165447RCV001575818 |
|
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile)
|
SNV Germline |
Chr13:32325184 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA019823 |
rs_397507713 |
9 SubmittersRCV000213168RCV000709287RCV000988985RCV000521547 |
|
NM_000059.4(BRCA2):c.4285C>T (p.Gln1429Ter)
|
SNV Germline |
Chr13:32338640 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA019916 |
rs_80358665 |
6 SubmittersRCV000044388RCV000113290RCV000219511RCV003473338 |
|
NM_000059.4(BRCA2):c.4301A>T (p.Lys1434Ile)
|
SNV Germline |
Chr13:32338656 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA019939 |
rs_397507714 |
8 SubmittersRCV000044389RCV000131680RCV000506062RCV001800339RCV004803175 |
|
NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr)
|
SNV Germline |
Chr13:32338670 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA019960 |
rs_80358666 |
12 SubmittersRCV000113292RCV000129972RCV000513615RCV001295103RCV004803176 |
|
NM_000059.4(BRCA2):c.4318A>G (p.Lys1440Glu)
|
SNV Germline |
Chr13:32338673 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019972 |
rs_80358668 |
9 SubmittersRCV000113293RCV000130424RCV001249861 |
|
NM_000059.4(BRCA2):c.4319A>G (p.Lys1440Arg)
|
SNV Germline |
Chr13:32338674 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA019980 |
rs_80358669 |
8 SubmittersRCV000044394RCV000113294RCV000130008RCV003237422 |
|
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter)
|
SNV Germline |
Chr13:32338680 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Familial cancer of breast not specified Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA019986 |
rs_80358670 |
13 SubmittersRCV000044395RCV000113295RCV000505839RCV003473339RCV001002014RCV000510062RCV004803177 |
|
NM_000059.4(BRCA2):c.4352A>G (p.Asp1451Gly)
|
SNV Germline |
Chr13:32338707 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020025 |
rs_80358671 |
4 SubmittersRCV000044398RCV000113298RCV001022341 |
|
NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr)
|
SNV Germline |
Chr13:32338727 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA020050 |
rs_80358672 |
12 SubmittersRCV000044399RCV000077323RCV000216745RCV000480609RCV001175060RCV002250512 |
|
NM_000059.4(BRCA2):c.4377C>G (p.Asn1459Lys)
|
SNV Germline |
Chr13:32338732 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020067 |
rs_80358673 |
5 SubmittersRCV000113299RCV000481144RCV000780026RCV003156773 |
|
NM_000059.4(BRCA2):c.439C>T (p.Gln147Ter)
|
SNV Germline |
Chr13:32326114 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA020093 |
rs_397507717 |
5 SubmittersRCV000241305RCV001174632RCV003372613RCV003460581 |
|
NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg)
|
SNV Germline |
Chr13:32326117 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA020175 |
rs_80358677 |
10 SubmittersRCV000044413RCV000077325RCV000214740RCV000440751RCV000985524RCV003460582 |
|
NM_000059.4(BRCA2):c.4440T>G (p.Tyr1480Ter)
|
SNV Germline |
Chr13:32338795 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Genetic non-acquired premature ovarian failure Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA020187 |
rs_397507719 |
7 SubmittersRCV000222409RCV000225483RCV002326767RCV000770916RCV001387952 |
|
NM_000059.4(BRCA2):c.4483G>A (p.Val1495Ile)
|
SNV Germline |
Chr13:32338838 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020274 |
rs_80358680 |
8 SubmittersRCV000113309RCV000131290RCV000212236RCV001401014 |
|
NM_000059.4(BRCA2):c.4490T>A (p.Val1497Asp)
|
SNV Germline |
Chr13:32338845 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020279 |
rs_80358681 |
4 SubmittersRCV000083107RCV003156774 |
|
NM_000059.4(BRCA2):c.449A>G (p.His150Arg)
|
SNV Germline |
Chr13:32326124 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA020291 |
rs_397507722 |
11 SubmittersRCV000044425RCV000130685RCV000499599RCV000663195RCV000759616RCV005364924RCV004803181 |
|
NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala)
|
SNV Germline |
Chr13:32338868 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020295 |
rs_80358682 |
9 SubmittersRCV000113310RCV001370442RCV000569819RCV000485977RCV000766851 |
|
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter)
|
SNV Germline |
Chr13:32338880 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of pancreas Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast BRCA2-related disorder |
Reviewed By Expert Panel |
CA020321 |
rs_80358683 |
11 SubmittersRCV000113311RCV000677847RCV000850058RCV001284566RCV001383065RCV002250514RCV004537193 |
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
SNV Germline |
Chr13:32338889 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 not specified Ovarian cancer |
Criteria Provided Conflicting Classifications |
CA020333 |
rs_80358684 |
18 SubmittersRCV000044428RCV000113312RCV000130950RCV000755874RCV001113729RCV003230379RCV003153336 |
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
SNV Germline |
Chr13:32338890 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided 8 conditions Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA020346 |
rs_80358685 |
11 SubmittersRCV000044429RCV000167383RCV000113313RCV000481718RCV000509510RCV000763888RCV001353969 |
|
NM_000059.4(BRCA2):c.4537G>A (p.Asp1513Asn)
|
SNV Germline |
Chr13:32338892 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020363 |
rs_80358687 |
5 SubmittersRCV000113315RCV000773264RCV001367592RCV004998148 |
|
NM_000059.4(BRCA2):c.4547T>A (p.Ile1516Asn)
|
SNV Germline |
Chr13:32338902 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020395 |
rs_80358689 |
5 SubmittersRCV000113318RCV000735550RCV001317093RCV002336169 |
|
NM_000059.4(BRCA2):c.4552G>T (p.Glu1518Ter)
|
SNV Germline |
Chr13:32338907 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA020419 |
rs_397507727 |
3 SubmittersRCV000241077RCV000480220RCV003584517 |
|
NM_000059.4(BRCA2):c.4558A>G (p.Thr1520Ala)
|
SNV Germline |
Chr13:32338913 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020437 |
rs_80358690 |
4 SubmittersRCV000113320RCV000483594RCV001316741RCV003156775 |
|
NM_000059.4(BRCA2):c.455C>A (p.Thr152Lys)
|
SNV Germline |
Chr13:32326130 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA020444 |
rs_80358691 |
10 SubmittersRCV000195370RCV000213276RCV000113613RCV000588748RCV003235005 |
|
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)
|
SNV Germline |
Chr13:32338943 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA020499 |
rs_80358692 |
19 SubmittersRCV000044447RCV000077329RCV000162921RCV000212238RCV001762137RCV004803183 |
|
NM_000059.4(BRCA2):c.4589A>G (p.Lys1530Arg)
|
SNV Germline |
Chr13:32338944 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020502 |
rs_397507730 |
4 SubmittersRCV000218367RCV003335074RCV001852940 |
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
SNV Germline |
Chr13:32338954 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Breast neoplasm Fanconi anemia complementation group D1 Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA020526 |
rs_80358694 |
17 SubmittersRCV000044452RCV000077330RCV000129285RCV000212237RCV000413529RCV001109714RCV001281727RCV003149681RCV001353885 |
|
NM_000059.4(BRCA2):c.4655G>T (p.Gly1552Val)
|
SNV Germline |
Chr13:32339010 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020597 |
rs_80358696 |
7 SubmittersRCV000113327RCV000759620RCV001180083RCV001373896 |
|
NM_000059.4(BRCA2):c.4658C>T (p.Thr1553Ile)
|
SNV Germline |
Chr13:32339013 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020606 |
rs_80358697 |
4 SubmittersRCV000113329RCV001305685RCV003156777 |
|
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg)
|
SNV Germline |
Chr13:32339017 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA020611 |
rs_276174845 |
13 SubmittersRCV000044465RCV000077332RCV000166993RCV000585939RCV003492353RCV004803184 |
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
SNV Germline |
Chr13:32326142 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer 8 conditions |
Criteria Provided Conflicting Classifications |
CA020632 |
rs_68071147 |
20 SubmittersRCV000077333RCV000044468RCV000167806RCV000129132RCV001281728RCV005234949RCV005007968 |
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
SNV Germline |
Chr13:32339036 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Breast neoplasm Familial cancer of breast Breast and/or ovarian cancer Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020637 |
rs_2219594 |
26 SubmittersRCV000044469RCV000077334RCV000120328RCV000128957RCV000414161RCV000463461RCV003149682RCV001705697 |
|
NM_000059.4(BRCA2):c.4684C>T (p.Gln1562Ter)
|
SNV Germline |
Chr13:32339039 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA020641 |
rs_397507737 |
2 SubmittersRCV000577446RCV000661788 |
|
NM_000059.4(BRCA2):c.4703A>G (p.Lys1568Arg)
|
SNV Germline |
Chr13:32339058 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA020687 |
rs_80358699 |
9 SubmittersRCV000113334RCV000213170RCV001309223RCV000256034RCV004542698 |
|
NM_000059.4(BRCA2):c.4732T>G (p.Leu1578Val)
|
SNV Germline |
Chr13:32339087 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020729 |
rs_80358700 |
3 SubmittersRCV000113339RCV003644870RCV003156778 |
|
NM_000059.4(BRCA2):c.473C>T (p.Ser158Leu)
|
SNV Germline |
Chr13:32326148 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA020736 |
rs_80358701 |
6 SubmittersRCV000083109RCV000219972RCV001327463RCV003460585 |
|
NM_000059.4(BRCA2):c.475+1G>A
|
SNV Germline |
Chr13:32326151 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Gastric cancer Condition: not provided |
Reviewed By Expert Panel |
CA020753 |
rs_81002797 |
11 SubmittersRCV000113644RCV000709289RCV002336170RCV003162376RCV003493422 |
|
NM_000059.4(BRCA2):c.475+1G>T
|
SNV Germline |
Chr13:32326151 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related disorder Familial cancer of breast |
Reviewed By Expert Panel |
CA020757 |
rs_81002797 |
12 SubmittersRCV000044483RCV000113645RCV000162896RCV000255387RCV004528244RCV003460586 |
|
NM_000059.4(BRCA2):c.475+3A>G
|
SNV Germline |
Chr13:32326153 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020761 |
rs_81002795 |
8 SubmittersRCV000258385RCV000479466RCV000772645RCV001349387 |
|
NM_000059.4(BRCA2):c.475G>A (p.Val159Met)
|
SNV Germline |
Chr13:32326150 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Carcinoma of pancreas Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA020781 |
rs_80358702 |
12 SubmittersRCV000113649RCV000218417RCV000236273RCV001379120RCV001391212RCV003473347 |
|
NM_000059.4(BRCA2):c.4802A>G (p.Asp1601Gly)
|
SNV Germline |
Chr13:32339157 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020852 |
rs_80358704 |
6 SubmittersRCV000044495RCV000113344RCV000572672RCV001588864 |
|
NM_000059.4(BRCA2):c.4840A>G (p.Lys1614Glu)
|
SNV Germline |
Chr13:32339195 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020896 |
rs_80358706 |
4 SubmittersRCV000113349RCV000510015RCV001325226 |
|
NM_000059.4(BRCA2):c.4849A>C (p.Ser1617Arg)
|
SNV Germline |
Chr13:32339204 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA020909 |
rs_80358707 |
8 SubmittersRCV000113351RCV000165988RCV000484473RCV000780022RCV001295742RCV004803187 |
|
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu)
|
SNV Germline |
Chr13:32339209 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA020918 |
rs_80358708 |
14 SubmittersRCV000077339RCV000590643RCV000222179RCV000479674RCV001362264RCV005357314 |
|
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser)
|
SNV Germline |
Chr13:32339211 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA020922 |
rs_80358709 |
11 SubmittersRCV000113352RCV000781110RCV000773266RCV001558036RCV001313202RCV004537195 |
|
NM_000059.4(BRCA2):c.4859T>G (p.Leu1620Ter)
|
SNV Germline |
Chr13:32339214 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Inherited ovarian cancer (without breast cancer) BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA020929 |
rs_80358710 |
11 SubmittersRCV000113353RCV000657631RCV000496625RCV001525083RCV005252715RCV005364925 |
|
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter)
|
SNV Germline |
Chr13:32339244 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided Familial prostate cancer Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA020952 |
rs_80358711 |
7 SubmittersRCV000257254RCV001383850RCV003460587RCV003476926RCV005357315RCV004948154 |
|
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter)
|
SNV Germline |
Chr13:32339244 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Inherited ovarian cancer (without breast cancer) |
Reviewed By Expert Panel |
CA020955 |
rs_80358711 |
20 SubmittersRCV000044512RCV000077340RCV000131080RCV000255089RCV004566822RCV005252716 |
|
NM_000059.4(BRCA2):c.4894A>C (p.Ser1632Arg)
|
SNV Germline |
Chr13:32339249 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020968 |
rs_80358712 |
9 SubmittersRCV000113354RCV000164849RCV000586217RCV005007970RCV001372659 |
|
NM_000059.4(BRCA2):c.4897A>G (p.Ile1633Val)
|
SNV Germline |
Chr13:32339252 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA020971 |
rs_80358713 |
8 SubmittersRCV000044516RCV000113355RCV001023214RCV002277134RCV004803188 |
|
NM_000059.4(BRCA2):c.4898T>A (p.Ile1633Asn)
|
SNV Germline |
Chr13:32339253 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020974 |
rs_80358714 |
4 SubmittersRCV000113356RCV000165405RCV001347923 |
|
NM_000059.4(BRCA2):c.4901T>C (p.Phe1634Ser)
|
SNV Germline |
Chr13:32339256 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020983 |
rs_80358715 |
12 SubmittersRCV000113357RCV000166286RCV000254744RCV001463009 |
|
NM_000059.4(BRCA2):c.491T>A (p.Leu164Ter)
|
SNV Germline |
Chr13:32326257 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA021006 |
rs_80358717 |
3 SubmittersRCV000113680RCV004018931 |
|
NM_000059.4(BRCA2):c.4925A>C (p.Asn1642Thr)
|
SNV Germline |
Chr13:32339280 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA021014 |
rs_80358718 |
8 SubmittersRCV000044522RCV000083110RCV000570694RCV001800341 |
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
SNV Germline |
Chr13:32339283 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast not specified |
Criteria Provided Conflicting Classifications |
CA021023 |
rs_28897731 |
17 SubmittersRCV000044524RCV000077341RCV000163029RCV000416148RCV001353540RCV002307380 |
|
NM_000059.4(BRCA2):c.4933A>T (p.Lys1645Ter)
|
SNV Germline |
Chr13:32339288 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA021026 |
rs_80358719 |
2 SubmittersRCV000113359 |
|
NM_000059.4(BRCA2):c.4954G>C (p.Ala1652Pro)
|
SNV Germline |
Chr13:32339309 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA021057 |
rs_80358720 |
3 SubmittersRCV000113362RCV001294754RCV003156779 |
|
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)
|
SNV Germline |
Chr13:32339320 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast FLG-related disorder |
Reviewed By Expert Panel |
CA021066 |
rs_80358721 |
19 SubmittersRCV000083111RCV001175640RCV000496256RCV000758902RCV003460588RCV004549478 |
|
NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly)
|
SNV Germline |
Chr13:32339375 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA021135 |
rs_80358725 |
15 SubmittersRCV000044539RCV000113368RCV000129669RCV000218378RCV000588519RCV004732613RCV005357316 |
|
NM_000059.4(BRCA2):c.5035A>C (p.Thr1679Pro)
|
SNV Germline |
Chr13:32339390 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021160 |
rs_80358728 |
7 SubmittersRCV000113369RCV000214875RCV000586932RCV001372940 |
|
NM_000059.4(BRCA2):c.5051C>G (p.Thr1684Ser)
|
SNV Germline |
Chr13:32339406 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA021184 |
rs_80358729 |
5 SubmittersRCV000113371RCV000496558RCV005089414RCV003156781 |
|
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly)
|
SNV Germline |
Chr13:32339451 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA021240 |
rs_80358732 |
15 SubmittersRCV000044553RCV000113377RCV000130603RCV000587656RCV001175365RCV004803189 |
|
NM_000059.4(BRCA2):c.5098G>A (p.Gly1700Ser)
|
SNV Germline |
Chr13:32339453 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA021242 |
rs_80358733 |
8 SubmittersRCV000044554RCV000113378RCV000484596RCV000221190RCV001778688 |
|
NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)
|
SNV Germline |
Chr13:32339456 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA021256 |
rs_397507758 |
10 SubmittersRCV000256540RCV000500448RCV000478939RCV001310153RCV002336174RCV003473353 |
|
NM_000059.4(BRCA2):c.5104C>T (p.Pro1702Ser)
|
SNV Germline |
Chr13:32339459 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA021263 |
rs_80358734 |
6 SubmittersRCV000113379RCV001320852RCV000214445RCV002477146 |
|
NM_000059.4(BRCA2):c.5107G>C (p.Glu1703Gln)
|
SNV Germline |
Chr13:32339462 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA021267 |
rs_80358735 |
4 SubmittersRCV000113380RCV002514195RCV002345332 |
|
NM_000059.4(BRCA2):c.5107G>T (p.Glu1703Ter)
|
SNV Germline |
Chr13:32339462 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA021274 |
rs_80358735 |
4 SubmittersRCV000113381RCV000496356RCV003298090 |
|
NM_000059.4(BRCA2):c.5113A>G (p.Ile1705Val)
|
SNV Germline |
Chr13:32339468 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA021283 |
rs_80358737 |
14 SubmittersRCV000083112RCV000217824RCV000130471RCV001348897RCV001192530 |
|
NM_000059.4(BRCA2):c.5119A>G (p.Thr1707Ala)
|
SNV Germline |
Chr13:32339474 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA021310 |
rs_80358738 |
4 SubmittersRCV000113383RCV002514196RCV003156782RCV001795039 |
|
NM_000059.4(BRCA2):c.5159C>G (p.Ser1720Ter)
|
SNV Germline |
Chr13:32339514 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA021435 |
rs_80358740 |
4 SubmittersRCV000113390RCV005089415 |
|
NM_000059.4(BRCA2):c.516+1G>A
|
SNV Germline |
Chr13:32326283 |
Pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA021479 |
rs_397507762 |
5 SubmittersRCV000478432RCV000586303RCV000258397RCV000563773 |
|
NM_000059.4(BRCA2):c.516+1G>C
|
SNV Germline |
Chr13:32326283 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA021481 |
rs_397507762 |
5 SubmittersRCV000258169RCV000523730RCV000509726RCV003529933 |
|
NM_000059.4(BRCA2):c.516+2T>A
|
SNV Germline |
Chr13:32326284 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA021489 |
rs_397507764 |
5 SubmittersRCV000258414RCV001387342RCV002336176RCV004542699 |
|
NM_000059.4(BRCA2):c.5167A>C (p.Thr1723Pro)
|
SNV Germline |
Chr13:32339522 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021512 |
rs_80358742 |
4 SubmittersRCV000113391RCV003156783RCV002514197 |
|
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala)
|
SNV Germline |
Chr13:32339522 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA021522 |
rs_80358742 |
15 SubmittersRCV000044582RCV000113392RCV000167513RCV000221189RCV000985538RCV005357317 |
|
NM_000059.4(BRCA2):c.516G>A (p.Lys172=)
|
SNV Germline |
Chr13:32326282 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA021531 |
rs_80359790 |
13 SubmittersRCV000044583RCV000113726RCV004566823RCV001284089RCV001023653 |
|
NM_000059.4(BRCA2):c.517-1G>A
|
SNV Germline |
Chr13:32326498 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA021567 |
rs_81002849 |
8 SubmittersRCV000113730RCV000131857RCV000709290RCV003460589RCV001588865 |
|
NM_000059.4(BRCA2):c.517-2A>G
|
SNV Germline |
Chr13:32326497 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast BRCA2-related disorder BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA021578 |
rs_81002858 |
22 SubmittersRCV000044589RCV000077347RCV000162897RCV000221055RCV001171442RCV003473357RCV004732615RCV004803191 |
|
NM_000059.4(BRCA2):c.517-4C>G
|
SNV Germline |
Chr13:32326495 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Malignant tumor of breast Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA021589 |
rs_81002804 |
18 SubmittersRCV000044590RCV000113731RCV000131488RCV000212206RCV001083460RCV001111541RCV001355912RCV004584182 |
|
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr)
|
SNV Germline |
Chr13:32339526 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA021569 |
rs_80358743 |
10 SubmittersRCV000044591RCV000074534RCV000113393RCV000131403RCV000985249RCV001353973 |
|
NM_000059.4(BRCA2):c.517G>T (p.Gly173Cys)
|
SNV Germline |
Chr13:32326499 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021603 |
rs_397507768 |
5 SubmittersRCV000220016RCV000239003RCV000506327RCV001301980 |
|
NM_000059.4(BRCA2):c.5182G>A (p.Asp1728Asn)
|
SNV Germline |
Chr13:32339537 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA021620 |
rs_80358744 |
7 SubmittersRCV000113395RCV001363319RCV000220094RCV004732616RCV004803192 |
|
NM_000059.4(BRCA2):c.5188A>T (p.Asn1730Tyr)
|
SNV Germline |
Chr13:32339543 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021622 |
rs_397507770 |
4 SubmittersRCV000576951RCV002336177RCV002514198 |
|
NM_000059.4(BRCA2):c.518G>T (p.Gly173Val)
|
SNV Germline |
Chr13:32326500 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA021632 |
rs_28897702 |
6 SubmittersRCV000044598RCV000213680RCV000113738RCV004595903 |
|
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn)
|
SNV Germline |
Chr13:32339546 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer not specified |
Criteria Provided Conflicting Classifications |
CA021640 |
rs_80358745 |
13 SubmittersRCV000077348RCV000167854RCV000222021RCV000586989RCV003492354RCV005406775 |
|
NM_000059.4(BRCA2):c.5217T>A (p.Tyr1739Ter)
|
SNV Germline |
Chr13:32339572 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA021745 |
rs_80358746 |
5 SubmittersRCV000113399RCV001023745RCV001390590 |
|
NM_000059.4(BRCA2):c.521G>A (p.Arg174His)
|
SNV Germline |
Chr13:32326503 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA021758 |
rs_80358747 |
8 SubmittersRCV000044616RCV000083114RCV000165821RCV000427870RCV000985540 |
|
NM_000059.4(BRCA2):c.5249C>T (p.Ser1750Phe)
|
SNV Germline |
Chr13:32339604 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA021849 |
rs_80358748 |
11 SubmittersRCV000044619RCV000113410RCV000130265RCV000483481RCV000766556RCV005357318 |
|
NM_000059.4(BRCA2):c.5254C>T (p.His1752Tyr)
|
SNV Germline |
Chr13:32339609 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA021863 |
rs_80358749 |
5 SubmittersRCV000113411RCV003156784RCV001363808RCV003476927 |
|
NM_000059.4(BRCA2):c.5272A>G (p.Asn1758Asp)
|
SNV Germline |
Chr13:32339627 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA021918 |
rs_80358750 |
11 SubmittersRCV000044624RCV000113413RCV000562802RCV000589423RCV003387744RCV004803193 |
|
NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter)
|
SNV Germline |
Chr13:32339634 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA021930 |
rs_80358751 |
13 SubmittersRCV000044625RCV000131074RCV000113414RCV003476928RCV003460591 |
|
NM_000059.4(BRCA2):c.5282G>A (p.Gly1761Glu)
|
SNV Germline |
Chr13:32339637 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA021937 |
rs_80358752 |
7 SubmittersRCV000083115RCV000129736RCV001342558RCV001800344 |
|
NM_000059.4(BRCA2):c.5285A>C (p.Tyr1762Ser)
|
SNV Germline |
Chr13:32339640 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA021948 |
rs_80358753 |
8 SubmittersRCV000044627RCV000113416RCV000566469RCV003237423 |
|
NM_000059.4(BRCA2):c.5286T>A (p.Tyr1762Ter)
|
SNV Germline |
Chr13:32339641 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA021955 |
rs_80358754 |
9 SubmittersRCV000113417RCV000781162RCV001689599RCV002345333 |
|
NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter)
|
SNV Germline |
Chr13:32339646 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA021968 |
rs_397507778 |
6 SubmittersRCV000577424RCV001310157RCV001390627RCV001023875RCV000661753 |
|
NM_000059.4(BRCA2):c.5342A>G (p.Asp1781Gly)
|
SNV Germline |
Chr13:32339697 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA022044 |
rs_80358756 |
8 SubmittersRCV000044635RCV000113420RCV000214135RCV001753457 |
|
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys)
|
SNV Germline |
Chr13:32339699 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA022062 |
rs_80358757 |
11 SubmittersRCV000044636RCV000113421RCV000132498RCV000421612RCV001284428 |
|
NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)
|
SNV Germline |
Chr13:32339699 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions Familial cancer of breast BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA022075 |
rs_80358757 |
11 SubmittersRCV000113422RCV000496507RCV003162380RCV005007972RCV003473360RCV005357319 |
|
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly)
|
SNV Germline |
Chr13:32339745 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA022204 |
rs_80358760 |
15 SubmittersRCV000044649RCV000113425RCV000167078RCV001284430 |
|
NM_000059.4(BRCA2):c.5404C>T (p.Gln1802Ter)
|
SNV Germline |
Chr13:32339759 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA022246 |
rs_80358763 |
8 SubmittersRCV000113426RCV001381023RCV001804771RCV003460592 |
|
NM_000059.4(BRCA2):c.5405A>G (p.Gln1802Arg)
|
SNV Germline |
Chr13:32339760 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022254 |
rs_80358764 |
9 SubmittersRCV000083117RCV000478720RCV000575899RCV001349274 |
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
SNV Germline |
Chr13:32339769 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Fanconi anemia complementation group D1 Malignant tumor of breast Familial cancer of breast Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA022277 |
rs_80358765 |
21 SubmittersRCV000044656RCV000113427RCV000131487RCV000590661RCV000855580RCV001112467RCV001358175RCV003607214RCV004584183 |
|
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile)
|
SNV Germline |
Chr13:32339783 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer BRCA2-related cancer predisposition BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA022313 |
rs_80358766 |
17 SubmittersRCV000044658RCV000077352RCV000214539RCV000219100RCV000589093RCV001353798RCV003492356RCV004803194RCV003483453 |
|
NM_000059.4(BRCA2):c.5434G>T (p.Glu1812Ter)
|
SNV Germline |
Chr13:32339789 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA022320 |
rs_80358767 |
7 SubmittersRCV000113430RCV000509828RCV001174724 |
|
NM_000059.4(BRCA2):c.5471A>G (p.Asn1824Ser)
|
SNV Germline |
Chr13:32339826 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022396 |
rs_80358769 |
4 SubmittersRCV000113435RCV000571132RCV001852942 |
|
NM_000059.4(BRCA2):c.5479A>G (p.Ile1827Val)
|
SNV Germline |
Chr13:32339834 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA022413 |
rs_80358770 |
10 SubmittersRCV000044669RCV000113437RCV000482352RCV000562248RCV005417448 |
|
NM_000059.4(BRCA2):c.5503A>G (p.Asn1835Asp)
|
SNV Germline |
Chr13:32339858 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA022464 |
rs_80358771 |
11 SubmittersRCV000113440RCV000044672RCV000213098RCV000220592RCV004537196RCV001000851 |
|
NM_000059.4(BRCA2):c.5505T>G (p.Asn1835Lys)
|
SNV Germline |
Chr13:32339860 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022469 |
rs_80358772 |
4 SubmittersRCV000113441RCV001192569RCV003156786RCV001307973 |
|
NM_000059.4(BRCA2):c.5507A>C (p.Asn1836Thr)
|
SNV Germline |
Chr13:32339862 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA022478 |
rs_80358773 |
4 SubmittersRCV000044674RCV000113442RCV002345334 |
|
NM_000059.4(BRCA2):c.5508T>G (p.Asn1836Lys)
|
SNV Germline |
Chr13:32339863 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA022483 |
rs_80358774 |
8 SubmittersRCV000044675RCV000083119RCV000130155RCV001719796RCV002468998 |
|
NM_000059.4(BRCA2):c.5569G>T (p.Glu1857Ter)
|
SNV Germline |
Chr13:32339924 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer |
Reviewed By Expert Panel |
CA022581 |
rs_80358778 |
8 SubmittersRCV000113444RCV000496399RCV002345335RCV003492357 |
|
NM_000059.4(BRCA2):c.5596T>C (p.Phe1866Leu)
|
SNV Germline |
Chr13:32339951 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022674 |
rs_80358779 |
9 SubmittersRCV000113447RCV000165388RCV000779923RCV001284576RCV001852943 |
|
NM_000059.4(BRCA2):c.5602G>T (p.Asp1868Tyr)
|
SNV Germline |
Chr13:32339957 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022683 |
rs_80358781 |
5 SubmittersRCV000113448RCV000129963RCV001301982 |
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
SNV Germline |
Chr13:32339967 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA022703 |
rs_80358782 |
16 SubmittersRCV000044695RCV000077355RCV000130705RCV000215831RCV000588661RCV003492358 |
|
NM_000059.4(BRCA2):c.5626G>T (p.Glu1876Ter)
|
SNV Germline |
Chr13:32339981 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA022743 |
rs_397507793 |
4 SubmittersRCV000129291RCV000241406RCV000657632RCV002514199 |
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
SNV Germline |
Chr13:32339990 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group D1 Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA022780 |
rs_55996097 |
23 SubmittersRCV000077357RCV000167807RCV000129072RCV000168580RCV000336386RCV000755862RCV004542701 |
|
NM_000059.4(BRCA2):c.5651T>C (p.Ile1884Thr)
|
SNV Germline |
Chr13:32340006 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022855 |
rs_80358788 |
5 SubmittersRCV000113453RCV000216526RCV001346339 |
|
NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter)
|
SNV Germline |
Chr13:32340011 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer |
Reviewed By Expert Panel |
CA022876 |
rs_80358790 |
14 SubmittersRCV000044710RCV000113455RCV000446276RCV000480447RCV003460594RCV000735570 |
|
NM_000059.4(BRCA2):c.5660C>T (p.Thr1887Met)
|
SNV Germline |
Chr13:32340015 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Condition: not provided BRCA2-related disorder Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA022886 |
rs_397507795 |
13 SubmittersRCV000129439RCV000239329RCV000507337RCV001349262RCV004803863RCV003318548RCV004542702RCV005357321 |
|
NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg)
|
SNV Germline |
Chr13:32340018 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA022899 |
rs_80358791 |
13 SubmittersRCV000044713RCV000131719RCV000113457RCV000735571RCV000779946RCV000216952 |
|
NM_000059.4(BRCA2):c.5665A>T (p.Ile1889Phe)
|
SNV Germline |
Chr13:32340020 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022901 |
rs_80358792 |
4 SubmittersRCV000113458RCV003156787RCV001297734 |
|
NM_000059.4(BRCA2):c.5668A>G (p.Met1890Val)
|
SNV Germline |
Chr13:32340023 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022911 |
rs_80358793 |
7 SubmittersRCV000113459RCV000779963RCV000771296RCV001337165 |
|
NM_000059.4(BRCA2):c.5669T>C (p.Met1890Thr)
|
SNV Germline |
Chr13:32340024 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022917 |
rs_80358794 |
7 SubmittersRCV000113460RCV000574337RCV000212242RCV001304999 |
|
NM_000059.4(BRCA2):c.5699C>A (p.Ser1900Ter)
|
SNV Germline |
Chr13:32340054 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA023001 |
rs_397507797 |
2 SubmittersRCV000257227 |
|
NM_000059.4(BRCA2):c.5714A>G (p.His1905Arg)
|
SNV Germline |
Chr13:32340069 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA023030 |
rs_80358796 |
9 SubmittersRCV000044725RCV000113466RCV000130620RCV000479143RCV002281732 |
|
NM_000059.4(BRCA2):c.5726A>G (p.Asp1909Gly)
|
SNV Germline |
Chr13:32340081 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023062 |
rs_80358798 |
7 SubmittersRCV000213615RCV000113471RCV000212243RCV001346742 |
|
NM_000059.4(BRCA2):c.5729A>G (p.Asn1910Ser)
|
SNV Germline |
Chr13:32340084 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023077 |
rs_276174863 |
7 SubmittersRCV000044733RCV000113473RCV000213160RCV004767039 |
|
NM_000059.4(BRCA2):c.572A>G (p.Asp191Gly)
|
SNV Germline |
Chr13:32326554 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023083 |
rs_397507798 |
3 SubmittersRCV000577576RCV003162382RCV004017342 |
|
NM_000059.4(BRCA2):c.572A>T (p.Asp191Val)
|
SNV Germline |
Chr13:32326554 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Ovarian cancer |
Criteria Provided Conflicting Classifications |
CA023086 |
rs_397507798 |
7 SubmittersRCV000129294RCV000486563RCV000411982RCV001373010RCV003153337 |
|
NM_000059.4(BRCA2):c.5734G>T (p.Glu1912Ter)
|
SNV Germline |
Chr13:32340089 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial prostate cancer |
Reviewed By Expert Panel |
CA023098 |
rs_397507800 |
5 SubmittersRCV000257767RCV001388097RCV002345337RCV005357324 |
|
NM_000059.4(BRCA2):c.5739T>A (p.Cys1913Ter)
|
SNV Germline |
Chr13:32340094 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA023111 |
rs_397507801 |
1 SubmittersRCV000241195 |
|
NM_000059.4(BRCA2):c.5741G>C (p.Ser1914Thr)
|
SNV Germline |
Chr13:32340096 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided not specified Hereditary cancer-predisposing syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA023125 |
rs_80358801 |
10 SubmittersRCV000113474RCV000044740RCV000214177RCV001000852RCV000217425RCV004537197 |
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
SNV Germline |
Chr13:32326557 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA023166 |
rs_80358805 |
16 SubmittersRCV000074544RCV000083120RCV000219992RCV000417374RCV000985251RCV003460595RCV005357325 |
|
NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter)
|
SNV Germline |
Chr13:32340128 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA023205 |
rs_80358806 |
9 SubmittersRCV000113482RCV000496735RCV000579768RCV001353802RCV003460596 |
|
NM_000059.4(BRCA2):c.5782G>A (p.Glu1928Lys)
|
SNV Germline |
Chr13:32340137 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition not specified |
Criteria Provided Conflicting Classifications |
CA023218 |
rs_56253082 |
11 SubmittersRCV000044753RCV000077360RCV000164827RCV000586545RCV004803864RCV001705699 |
|
NM_000059.4(BRCA2):c.5789T>A (p.Leu1930Ter)
|
SNV Germline |
Chr13:32340144 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA023238 |
rs_397507805 |
3 SubmittersRCV000257112RCV002354231 |
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
SNV Germline |
Chr13:32340146 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome 8 conditions Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA023241 |
rs_80358807 |
12 SubmittersRCV000077361RCV000131105RCV000763323RCV001723634RCV001852944 |
|
NM_000059.4(BRCA2):c.5804A>G (p.Asn1935Ser)
|
SNV Germline |
Chr13:32340159 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023260 |
rs_80358808 |
5 SubmittersRCV000113486RCV003325453RCV001024555RCV001312775 |
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
SNV Germline |
Chr13:32326563 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome 8 conditions 8 conditions BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA023266 |
rs_80358809 |
18 SubmittersRCV000044763RCV000077362RCV000656583RCV000999879RCV001798236RCV002354232RCV002477150RCV004795971RCV005357326 |
|
NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro)
|
SNV Germline |
Chr13:32340191 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA023287 |
rs_80358811 |
10 SubmittersRCV000113490RCV000129417RCV000416524RCV000588442RCV004803865RCV002228136RCV002250516 |
|
NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser)
|
SNV Germline |
Chr13:32340194 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer not specified |
Criteria Provided Conflicting Classifications |
CA023289 |
rs_80358812 |
11 SubmittersRCV000044772RCV000113492RCV000132548RCV000985552RCV002250517RCV000768631RCV000781083 |
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
SNV Germline |
Chr13:32340212 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer 9 conditions Prostate cancer Malignant tumor of breast Medulloblastoma Familial cancer of breast Wilms tumor 1 |
Reviewed By Expert Panel |
CA023311 |
rs_80358814 |
32 SubmittersRCV000044775RCV000131117RCV000077363RCV000313209RCV000195356RCV000735575RCV000515293RCV001843469RCV001353570RCV001843470RCV001843467RCV001843468 |
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
SNV Germline |
Chr13:32340219 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer 8 conditions Familial cancer of breast Malignant tumor of breast |
Reviewed By Expert Panel |
CA023317 |
rs_80358815 |
27 SubmittersRCV000044777RCV000077364RCV000221022RCV000162927RCV000735576RCV002496691RCV003473367RCV001353854 |
|
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter)
|
SNV Germline |
Chr13:32340219 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA023319 |
rs_80358815 |
7 SubmittersRCV000131666RCV000519321RCV000241225RCV003147334RCV001386452 |
|
NM_000059.4(BRCA2):c.5866G>C (p.Asp1956His)
|
SNV Germline |
Chr13:32340221 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023321 |
rs_80358816 |
6 SubmittersRCV000113497RCV002354233RCV005357327RCV002514200 |
|
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)
|
SNV Germline |
Chr13:32340224 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA023323 |
rs_80358817 |
15 SubmittersRCV000044780RCV000129497RCV000113498RCV000203620RCV000513016RCV004803866RCV004732617 |
|
NM_000059.4(BRCA2):c.5891A>G (p.Lys1964Arg)
|
SNV Germline |
Chr13:32340246 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023341 |
rs_80358821 |
4 SubmittersRCV000113500RCV000575475RCV001367707 |
|
NM_000059.4(BRCA2):c.5925T>A (p.Cys1975Ter)
|
SNV Germline |
Chr13:32340280 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA023372 |
rs_80358825 |
4 SubmittersRCV000113503RCV000574746RCV001390628 |
|
NM_000059.4(BRCA2):c.5925T>G (p.Cys1975Trp)
|
SNV Germline |
Chr13:32340280 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023374 |
rs_80358825 |
5 SubmittersRCV000113504RCV002514201RCV001024689 |
|
NM_000059.4(BRCA2):c.5939C>T (p.Thr1980Ile)
|
SNV Germline |
Chr13:32340294 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023390 |
rs_80358827 |
8 SubmittersRCV000113506RCV000565166RCV001346088RCV004691735 |
|
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter)
|
SNV Germline |
Chr13:32340314 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions |
Reviewed By Expert Panel |
CA023417 |
rs_80358828 |
12 SubmittersRCV000113510RCV000496769RCV000567880RCV000434288RCV004795972 |
|
NM_000059.4(BRCA2):c.5972C>T (p.Ala1991Val)
|
SNV Germline |
Chr13:32340327 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023438 |
rs_80358829 |
4 SubmittersRCV000113513RCV000414292RCV003157308RCV001857368 |
|
NM_000059.4(BRCA2):c.5975C>T (p.Ser1992Leu)
|
SNV Germline |
Chr13:32340330 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome BRCA2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023440 |
rs_80358830 |
9 SubmittersRCV000044809RCV000113514RCV000236533RCV000572935RCV001535549RCV003884341 |
|
NM_000059.4(BRCA2):c.5981A>G (p.Gln1994Arg)
|
SNV Germline |
Chr13:32340336 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023444 |
rs_80358832 |
6 SubmittersRCV000113515RCV001344001RCV000773142 |
|
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)
|
SNV Germline |
Chr13:32340341 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 BRCA2-related disorder Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA023455 |
rs_80358833 |
20 SubmittersRCV000044813RCV000077366RCV000195331RCV000129689RCV000859013RCV000318984RCV004537198RCV005357328 |
|
NM_000059.4(BRCA2):c.5992C>T (p.Gln1998Ter)
|
SNV Germline |
Chr13:32340347 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA023471 |
rs_397507819 |
7 SubmittersRCV001024766RCV000257054RCV001380760RCV000755860 |
|
NM_000059.4(BRCA2):c.5C>T (p.Pro2Leu)
|
SNV Germline |
Chr13:32316465 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023494 |
rs_80358836 |
5 SubmittersRCV000113015RCV001024782RCV001347121RCV004998151 |
|
NM_000059.4(BRCA2):c.6008T>C (p.Ile2003Thr)
|
SNV Germline |
Chr13:32340363 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023504 |
rs_80358837 |
4 SubmittersRCV000044818RCV000113519RCV002354236 |
|
NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter)
|
SNV Germline |
Chr13:32340380 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 |
Reviewed By Expert Panel |
CA023540 |
rs_80358838 |
10 SubmittersRCV000044821RCV000113520RCV000213281RCV000985555RCV003473368RCV004760359 |
|
NM_000059.4(BRCA2):c.6029T>G (p.Val2010Gly)
|
SNV Germline |
Chr13:32340384 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023542 |
rs_80358839 |
11 SubmittersRCV000077367RCV000129746RCV000212246RCV000709322 |
|
NM_000059.4(BRCA2):c.6037A>G (p.Lys2013Glu)
|
SNV Germline |
Chr13:32340392 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA023559 |
rs_80358840 |
9 SubmittersRCV000044826RCV000083121RCV000162633RCV004998152RCV001174723 |
|
NM_000059.4(BRCA2):c.6058G>T (p.Glu2020Ter)
|
SNV Germline |
Chr13:32340413 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA023579 |
rs_80358842 |
5 SubmittersRCV000257323RCV001269721 |
|
NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter)
|
SNV Germline |
Chr13:32340420 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast |
Reviewed By Expert Panel |
CA023591 |
rs_80358843 |
14 SubmittersRCV000217928RCV000113522RCV000503943RCV000429027RCV001353453RCV003460597 |
|
NM_000059.4(BRCA2):c.6070C>T (p.Gln2024Ter)
|
SNV Germline |
Chr13:32340425 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA023597 |
rs_80358844 |
8 SubmittersRCV000113524RCV000162929RCV001310127RCV001857369RCV003237424 |
|
NM_000059.4(BRCA2):c.6071A>G (p.Gln2024Arg)
|
SNV Germline |
Chr13:32340426 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA023602 |
rs_80358845 |
6 SubmittersRCV000044833RCV000113525RCV001182573RCV002228137 |
|
NM_000059.4(BRCA2):c.6079A>G (p.Arg2027Gly)
|
SNV Germline |
Chr13:32340434 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023620 |
rs_80358846 |
5 SubmittersRCV000113528RCV001347126RCV004803867RCV003157310 |
|
NM_000059.4(BRCA2):c.6082G>T (p.Glu2028Ter)
|
SNV Germline |
Chr13:32340437 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA023631 |
rs_397507827 |
3 SubmittersRCV000256860RCV002354237 |
|
NM_000059.4(BRCA2):c.6085G>T (p.Glu2029Ter)
|
SNV Germline |
Chr13:32340440 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast neoplasm |
Reviewed By Expert Panel |
CA023634 |
rs_397507828 |
4 SubmittersRCV000256572RCV000565679RCV000677859 |
|
NM_000059.4(BRCA2):c.6086A>G (p.Glu2029Gly)
|
SNV Germline |
Chr13:32340441 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023636 |
rs_80358847 |
4 SubmittersRCV000113529RCV003157311RCV003529934 |
|
NM_000059.4(BRCA2):c.6099A>G (p.Ile2033Met)
|
SNV Germline |
Chr13:32340454 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome BRCA2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023650 |
rs_80358848 |
8 SubmittersRCV000113531RCV000164759RCV004803868RCV001309364RCV004537199RCV004721252 |
|
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)
|
SNV Germline |
Chr13:32340456 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023655 |
rs_80358849 |
12 SubmittersRCV000083122RCV000120341RCV000166225RCV001110580RCV001529429RCV001374119 |
|
NM_000059.4(BRCA2):c.6118A>T (p.Ile2040Leu)
|
SNV Germline |
Chr13:32340473 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023672 |
rs_80358850 |
6 SubmittersRCV000044849RCV000113534RCV000129331RCV003105784 |
|
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)
|
SNV Germline |
Chr13:32340479 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA023676 |
rs_80358851 |
13 SubmittersRCV000044850RCV000077369RCV000223048RCV000563525RCV003473370 |
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
SNV Germline |
Chr13:32340503 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary cancer-predisposing syndrome 8 conditions Malignant tumor of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023698 |
rs_80358854 |
13 SubmittersRCV000083123RCV000240684RCV000510133RCV000763893RCV001354612RCV001852947RCV002250519RCV001194410RCV003156222RCV004803869 |
|
NM_000059.4(BRCA2):c.6160G>C (p.Ala2054Pro)
|
SNV Germline |
Chr13:32340515 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023708 |
rs_80358855 |
4 SubmittersRCV000113538RCV001300745RCV003157312 |
|
NM_000059.4(BRCA2):c.6169G>T (p.Gly2057Ter)
|
SNV Germline |
Chr13:32340524 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA023712 |
rs_80358856 |
3 SubmittersRCV000113540 |
|
NM_000059.4(BRCA2):c.6172T>A (p.Phe2058Ile)
|
SNV Germline |
Chr13:32340527 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial prostate cancer not specified |
Criteria Provided Conflicting Classifications |
CA023714 |
rs_80358857 |
12 SubmittersRCV000044860RCV000083124RCV000129210RCV000587108RCV005357329RCV004700322 |
|
NM_000059.4(BRCA2):c.6211A>C (p.Ser2071Arg)
|
SNV Germline |
Chr13:32340566 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023752 |
rs_80358860 |
3 SubmittersRCV000113547RCV002354239 |
|
NM_000059.4(BRCA2):c.6212G>T (p.Ser2071Ile)
|
SNV Germline |
Chr13:32340567 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023756 |
rs_80358861 |
4 SubmittersRCV000113548RCV000215878RCV001373292 |
|
NM_000059.4(BRCA2):c.6239T>G (p.Leu2080Ter)
|
SNV Germline |
Chr13:32340594 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA023781 |
rs_80358864 |
4 SubmittersRCV000113554RCV002513646 |
|
NM_000059.4(BRCA2):c.623T>G (p.Val208Gly)
|
SNV Germline |
Chr13:32326605 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023784 |
rs_80358865 |
8 SubmittersRCV000113900RCV000166634RCV000781149RCV000759636RCV001313427 |
|
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys)
|
SNV Germline |
Chr13:32340636 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA023819 |
rs_397507838 |
12 SubmittersRCV000083125RCV000486364RCV000709324RCV000759639RCV000580567RCV003225719RCV005364928 |
|
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe)
|
SNV Germline |
Chr13:32340648 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA023831 |
rs_80358867 |
11 SubmittersRCV000044890RCV000113560RCV000222689RCV000656797RCV001355427RCV003149685 |
|
NM_000059.4(BRCA2):c.6296G>C (p.Arg2099Thr)
|
SNV Germline |
Chr13:32340651 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023835 |
rs_80358868 |
6 SubmittersRCV000113561RCV000708683RCV001364048 |
|
NM_000059.4(BRCA2):c.6304G>T (p.Val2102Leu)
|
SNV Germline |
Chr13:32340659 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023842 |
rs_80358869 |
8 SubmittersRCV000113563RCV000485835RCV001320715RCV000771297 |
|
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter)
|
SNV Germline |
Chr13:32340663 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA023844 |
rs_80358870 |
12 SubmittersRCV000113564RCV000217398RCV000580026RCV001390818 |
|
NM_000059.4(BRCA2):c.631+2T>C
|
SNV Germline |
Chr13:32326615 |
Likely pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA023850 |
rs_81002899 |
2 SubmittersRCV000577702RCV002463632 |
|
NM_000059.4(BRCA2):c.631+3A>G
|
SNV Germline |
Chr13:32326616 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA023855 |
rs_397507840 |
6 SubmittersRCV000044898RCV000258233RCV004998153RCV000575102 |
|
NM_000059.4(BRCA2):c.631+4A>G
|
SNV Germline |
Chr13:32326617 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023861 |
rs_397507841 |
5 SubmittersRCV000258315RCV002223776RCV001379699RCV002362664 |
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
SNV Germline |
Chr13:32340672 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 BRCA2-related cancer predisposition Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA023867 |
rs_56172926 |
25 SubmittersRCV000044901RCV000077370RCV000131282RCV001085349RCV001112565RCV004803870RCV001705700RCV003492360 |
|
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)
|
SNV Germline |
Chr13:32326613 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA023869 |
rs_80358871 |
15 SubmittersRCV000113917RCV000213157RCV000214066RCV000735584RCV000496306RCV003473372 |
|
NM_000059.4(BRCA2):c.632-1G>A
|
SNV Germline |
Chr13:32329442 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA023882 |
rs_81002820 |
6 SubmittersRCV000503670RCV000258249RCV002362665RCV001379700 |
|
NM_000059.4(BRCA2):c.632-1G>C
|
SNV Germline |
Chr13:32329442 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
No Assertion Criteria Provided |
CA023885 |
rs_81002820 |
1 SubmittersRCV000113919 |
|
NM_000059.4(BRCA2):c.632-1G>T
|
SNV Germline |
Chr13:32329442 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023888 |
rs_81002820 |
2 SubmittersRCV000509600RCV001379689 |
|
NM_000059.4(BRCA2):c.632-2A>G
|
SNV Germline |
Chr13:32329441 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA023891 |
rs_397507842 |
10 SubmittersRCV000258386RCV000220032RCV001387513RCV001804772RCV003473373 |
|
NM_000059.4(BRCA2):c.6329A>C (p.Asp2110Ala)
|
SNV Germline |
Chr13:32340684 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023917 |
rs_80358873 |
10 SubmittersRCV000113575RCV000589920RCV002362666RCV001316740RCV005357330 |
|
NM_000059.4(BRCA2):c.6359C>G (p.Ser2120Ter)
|
SNV Germline |
Chr13:32340714 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA023950 |
rs_397507845 |
6 SubmittersRCV000520827RCV000257199RCV000509973RCV001382837 |
|
NM_000059.4(BRCA2):c.6362A>G (p.Glu2121Gly)
|
SNV Germline |
Chr13:32340717 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023954 |
rs_397507846 |
10 SubmittersRCV000044924RCV000083126RCV000428649RCV000564377RCV001353733RCV004998154 |
|
NM_000059.4(BRCA2):c.6382A>T (p.Lys2128Ter)
|
SNV Germline |
Chr13:32340737 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA023965 |
rs_80358875 |
2 SubmittersRCV000113580 |
|
NM_000059.4(BRCA2):c.6403A>C (p.Asn2135His)
|
SNV Germline |
Chr13:32340758 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA023994 |
rs_80358876 |
9 SubmittersRCV000044933RCV000083127RCV000160110RCV000165986RCV001269229 |
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
SNV Germline |
Chr13:32340767 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Breast neoplasm Fanconi anemia complementation group D1 Condition: not provided BRCA2-related cancer predisposition Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA024008 |
rs_11571659 |
28 SubmittersRCV000044938RCV000077373RCV000120342RCV000128955RCV000414271RCV000311226RCV000656613RCV004803872RCV003149687 |
|
NM_000059.4(BRCA2):c.6413T>A (p.Val2138Asp)
|
SNV Germline |
Chr13:32340768 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024010 |
rs_80358877 |
11 SubmittersRCV000113585RCV000120349RCV000767077RCV001421968RCV000223184RCV004803873 |
|
NM_000059.4(BRCA2):c.6434A>G (p.Asn2145Ser)
|
SNV Germline |
Chr13:32340789 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024030 |
rs_80358878 |
10 SubmittersRCV000044945RCV000077374RCV000165446RCV000758928 |
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
SNV Germline |
Chr13:32340798 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Malignant tumor of breast not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024042 |
rs_80358880 |
16 SubmittersRCV000044949RCV000077375RCV000130268RCV001353823RCV001800348RCV001080402 |
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
SNV Germline |
Chr13:32340813 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA024073 |
rs_276174873 |
14 SubmittersRCV000113594RCV000218559RCV000131036RCV001193723RCV001306721RCV003607215RCV004732618 |
|
NM_000059.4(BRCA2):c.6461A>C (p.Tyr2154Ser)
|
SNV Germline |
Chr13:32340816 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024077 |
rs_80358882 |
8 SubmittersRCV000113595RCV000213967RCV005406776RCV001365312 |
|
NM_000059.4(BRCA2):c.6462T>G (p.Tyr2154Ter)
|
SNV Germline |
Chr13:32340817 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA024081 |
rs_80358883 |
5 SubmittersRCV000113596RCV002362670RCV003317058RCV004589535 |
|
NM_000059.4(BRCA2):c.6469C>T (p.Gln2157Ter)
|
SNV Germline |
Chr13:32340824 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast carcinoma Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA024090 |
rs_397507859 |
8 SubmittersRCV000241247RCV000772762RCV000657633RCV001646539RCV001380430 |
|
NM_000059.4(BRCA2):c.6490C>T (p.Gln2164Ter)
|
SNV Germline/somatic |
Chr13:32340845 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Condition: not provided |
Reviewed By Expert Panel |
CA024107 |
rs_397507860 |
7 SubmittersRCV000044968RCV000241068RCV000509627RCV003332100RCV004700323 |
|
NM_000059.4(BRCA2):c.652G>T (p.Glu218Ter)
|
SNV Germline |
Chr13:32329463 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA024134 |
rs_80358884 |
5 SubmittersRCV000077377RCV000496596RCV001568953 |
|
NM_000059.4(BRCA2):c.6532C>A (p.His2178Asn)
|
SNV Germline |
Chr13:32340887 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA024142 |
rs_80358885 |
7 SubmittersRCV000113604RCV000709327RCV003157314 |
|
NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter)
|
SNV Germline |
Chr13:32340902 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA024157 |
rs_397507866 |
7 SubmittersRCV000241124RCV000132475RCV001262869RCV002514203 |
|
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu)
|
SNV Germline |
Chr13:32340905 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA024160 |
rs_80358887 |
14 SubmittersRCV000113608RCV000129780RCV001085289RCV000587939RCV001175370RCV003607216 |
|
NM_000059.4(BRCA2):c.6557C>A (p.Ser2186Ter)
|
SNV Germline |
Chr13:32340912 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA024166 |
rs_397507867 |
7 SubmittersRCV000241520RCV001529430RCV001328339RCV001025409 |
|
NM_000059.4(BRCA2):c.6568G>A (p.Val2190Ile)
|
SNV Germline |
Chr13:32340923 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA024184 |
rs_80358888 |
12 SubmittersRCV000077378RCV000132273RCV001500524RCV001355408RCV001420959 |
|
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met)
|
SNV Germline |
Chr13:32340968 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024211 |
rs_80358889 |
15 SubmittersRCV000077379RCV000166043RCV000195375RCV000588118RCV000769700RCV005357333 |
|
NM_000059.4(BRCA2):c.6637T>C (p.Ser2213Pro)
|
SNV Germline |
Chr13:32340992 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024236 |
rs_80358890 |
5 SubmittersRCV000113617RCV002362672RCV001192646RCV001304750 |
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
SNV Germline |
Chr13:32341011 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided 8 conditions Malignant tumor of breast BRCA2-related disorder Familial cancer of breast |
Reviewed By Expert Panel |
CA024263 |
rs_80358893 |
17 SubmittersRCV000113622RCV000447889RCV000502225RCV000985568RCV000763324RCV001353656RCV001813752RCV003473386 |
|
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)
|
SNV Germline |
Chr13:32341020 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024271 |
rs_397507875 |
13 SubmittersRCV000045012RCV000221087RCV000410387RCV000485026RCV000759647 |
|
NM_000059.4(BRCA2):c.6683T>C (p.Val2228Ala)
|
SNV Germline |
Chr13:32341038 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024288 |
rs_80358894 |
9 SubmittersRCV000045017RCV000113629RCV000166253RCV000236365 |
|
NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp)
|
SNV Germline |
Chr13:32341053 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA024306 |
rs_41293501 |
10 SubmittersRCV000045020RCV000113630RCV000165875RCV000212250RCV003323374 |
|
NM_000059.4(BRCA2):c.67+1G>A
|
SNV Germline/somatic |
Chr13:32316528 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Malignant tumor of urinary bladder |
Criteria Provided Multiple Submitters No Conflicts |
CA024334 |
rs_81002796 |
14 SubmittersRCV000077381RCV000218090RCV000496390RCV000510076RCV003162384RCV005357334RCV003332101 |
|
NM_000059.4(BRCA2):c.67+1G>T
|
SNV Germline |
Chr13:32316528 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Familial cancer of breast |
Reviewed By Expert Panel |
CA024336 |
rs_81002796 |
15 SubmittersRCV000045022RCV000077382RCV000162894RCV000505843RCV005357335RCV004566829 |
|
NM_000059.4(BRCA2):c.67+2T>A
|
SNV Germline |
Chr13:32316529 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA024344 |
rs_81002885 |
2 SubmittersRCV000113080RCV003529937 |
|
NM_000059.4(BRCA2):c.67+2T>C
|
SNV Germline |
Chr13:32316529 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA024346 |
rs_81002885 |
12 SubmittersRCV000045024RCV000113081RCV000985570RCV005520222RCV005620339 |
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
SNV Germline |
Chr13:32341061 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Fanconi anemia complementation group D1 8 conditions Breast and/or ovarian cancer BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024312 |
rs_41293503 |
19 SubmittersRCV000045026RCV000083129RCV000165940RCV000216299RCV000781142RCV001109885RCV000763895RCV003492361RCV004732620RCV004803875 |
|
NM_000059.4(BRCA2):c.6713A>G (p.Asp2238Gly)
|
SNV Germline |
Chr13:32341068 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Pancreatic cancer, susceptibility to, 2 Fanconi anemia complementation group D1 |
Criteria Provided Conflicting Classifications |
CA024315 |
rs_80358895 |
11 SubmittersRCV000113631RCV000130198RCV001351104RCV000212251RCV000656798RCV005357336RCV001110667 |
|
NM_000059.4(BRCA2):c.6714T>G (p.Asp2238Glu)
|
SNV Germline |
Chr13:32341069 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA024319 |
rs_28897742 |
10 SubmittersRCV000113632RCV000218646RCV000212252RCV001351921RCV001356936 |
|
NM_000059.4(BRCA2):c.6715G>T (p.Glu2239Ter)
|
SNV Germline |
Chr13:32341070 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA024321 |
rs_276174876 |
6 SubmittersRCV000113633RCV003473387RCV004799762RCV002362674 |
|
NM_000059.4(BRCA2):c.6722C>T (p.Thr2241Ile)
|
SNV Germline |
Chr13:32341077 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA024338 |
rs_276174877 |
5 SubmittersRCV000113634RCV000507446RCV001852950RCV003157316 |
|
NM_000059.4(BRCA2):c.673A>G (p.Thr225Ala)
|
SNV Germline |
Chr13:32329484 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA024361 |
rs_80358897 |
8 SubmittersRCV000114001RCV000758933RCV001317442RCV002362675RCV004566830 |
|
NM_000059.4(BRCA2):c.6741T>A (p.Ser2247Arg)
|
SNV Germline |
Chr13:32341096 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA024363 |
rs_80358898 |
7 SubmittersRCV000045037RCV000113635RCV000773268RCV002281733 |
|
NM_000059.4(BRCA2):c.6767G>A (p.Cys2256Tyr)
|
SNV Germline |
Chr13:32341122 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA024391 |
rs_80358900 |
4 SubmittersRCV000113640RCV001301337RCV003157317 |
|
NM_000059.4(BRCA2):c.6768T>A (p.Cys2256Ter)
|
SNV Germline |
Chr13:32341123 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer |
Reviewed By Expert Panel |
CA024394 |
rs_80358901 |
6 SubmittersRCV000113641RCV001193921RCV000735590 |
|
NM_000059.4(BRCA2):c.676A>G (p.Thr226Ala)
|
SNV Germline |
Chr13:32329487 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA024396 |
rs_80358902 |
8 SubmittersRCV000083130RCV001170222RCV001304291RCV000657115RCV001025627 |
|
NM_000059.4(BRCA2):c.6770C>G (p.Pro2257Arg)
|
SNV Germline |
Chr13:32341125 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024398 |
rs_80358903 |
9 SubmittersRCV000113642RCV000852300RCV000574794RCV003476929RCV004803878 |
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
SNV Germline |
Chr13:32341140 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided not specified Familial colorectal cancer type X |
Criteria Provided Conflicting Classifications |
CA024407 |
rs_80358904 |
13 SubmittersRCV000077383RCV000162802RCV000225748RCV001110668RCV001284581RCV001818218RCV005357337 |
|
NM_000059.4(BRCA2):c.6796A>C (p.Asn2266His)
|
SNV Germline |
Chr13:32341151 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024409 |
rs_80358905 |
10 SubmittersRCV000045048RCV000113643RCV000254921RCV000766642RCV001025653RCV003492362RCV004803879 |
|
NM_000059.4(BRCA2):c.67G>T (p.Asp23Tyr)
|
SNV Germline |
Chr13:32316527 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA024413 |
rs_397507881 |
2 SubmittersRCV000258389RCV001543453 |
|
NM_000059.4(BRCA2):c.6800C>A (p.Ser2267Ter)
|
SNV Germline |
Chr13:32341155 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA024416 |
rs_377698594 |
4 SubmittersRCV000661662RCV004601095RCV000577100RCV001852951 |
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
SNV Germline |
Chr13:32341158 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Malignant tumor of breast BRCA2-related disorder Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024418 |
rs_80358906 |
19 SubmittersRCV000045055RCV000077385RCV000131556RCV001353618RCV004537201RCV000587611RCV003492363RCV001086840 |
|
NM_000059.4(BRCA2):c.681+4A>G
|
SNV Germline |
Chr13:32329496 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA024432 |
rs_397507884 |
6 SubmittersRCV000564042RCV000589335RCV000258477RCV004998155 |
|
NM_000059.4(BRCA2):c.682-1G>C
|
SNV Germline |
Chr13:32330918 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA024456 |
rs_81002831 |
5 SubmittersRCV000114011RCV000215277RCV000496656RCV000758938 |
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
SNV Germline |
Chr13:32341176 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Familial cancer of breast Fanconi anemia complementation group D1 Malignant tumor of breast Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA024458 |
rs_55712212 |
29 SubmittersRCV000045064RCV000077387RCV000074551RCV000131679RCV000735591RCV002294006RCV001110669RCV001270288RCV001200387RCV004528247 |
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
SNV Germline |
Chr13:32341181 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome 8 conditions Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024465 |
rs_80358907 |
7 SubmittersRCV000113653RCV000569837RCV002496693RCV001298105RCV004721253 |
|
NM_000059.4(BRCA2):c.6826C>T (p.Pro2276Ser)
|
SNV Germline |
Chr13:32341181 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA024466 |
rs_80358907 |
5 SubmittersRCV000045067RCV000113654RCV000213626RCV004700325 |
|
NM_000059.4(BRCA2):c.6842-11T>A
|
SNV Germline |
Chr13:32344547 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024498 |
rs_81002877 |
5 SubmittersRCV000113663RCV001193203RCV000582303RCV003233098RCV001484190 |
|
NM_000059.4(BRCA2):c.6842-14A>G
|
SNV Germline |
Chr13:32344544 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA024500 |
rs_81002821 |
4 SubmittersRCV000113664RCV000587823RCV001417883RCV003584519 |
|
NM_000059.4(BRCA2):c.6842G>T (p.Gly2281Val)
|
SNV Germline |
Chr13:32344558 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA024512 |
rs_80358908 |
7 SubmittersRCV000045078RCV000113668RCV000220896RCV001284583RCV002288545RCV001375610 |
|
NM_000059.4(BRCA2):c.6847C>G (p.Pro2283Ala)
|
SNV Germline |
Chr13:32344563 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024514 |
rs_80358909 |
11 SubmittersRCV000045079RCV000077388RCV000565946RCV000483877RCV003607217RCV004803881 |
|
NM_000059.4(BRCA2):c.6871A>G (p.Asn2291Asp)
|
SNV Germline |
Chr13:32344587 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024527 |
rs_80358911 |
8 SubmittersRCV000113670RCV000566275RCV001460409RCV004537202RCV001703947 |
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
SNV Germline |
Chr13:32344593 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided 8 conditions not specified BRCA2-related cancer predisposition Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA024533 |
rs_80358912 |
14 SubmittersRCV000045083RCV000132016RCV000077389RCV000174215RCV000765133RCV000779926RCV004803882RCV005357338 |
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
SNV Germline |
Chr13:32344608 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA024544 |
rs_80358914 |
11 SubmittersRCV000045085RCV000083131RCV000218893RCV000433666RCV001088946RCV003460602 |
|
NM_000059.4(BRCA2):c.6938-2A>G
|
SNV Germline |
Chr13:32346825 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA024592 |
rs_81002863 |
11 SubmittersRCV000083132RCV000735592RCV000779943RCV000479362RCV000509741RCV004803884 |
|
NM_000059.4(BRCA2):c.6943A>C (p.Ile2315Leu)
|
SNV Germline |
Chr13:32346832 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA024601 |
rs_80358918 |
10 SubmittersRCV000113675RCV000130766RCV000587113RCV001345343RCV003493423 |
|
NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu)
|
SNV Germline |
Chr13:32346875 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided Breast and/or ovarian cancer BRCA2-related cancer predisposition not specified |
Criteria Provided Conflicting Classifications |
CA024664 |
rs_80358925 |
12 SubmittersRCV000077392RCV000167790RCV000163085RCV001354293RCV000586419RCV003492364RCV004803886RCV005437964 |
|
NM_000059.4(BRCA2):c.7007+1G>C
|
SNV Germline |
Chr13:32346897 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA024701 |
rs_397507891 |
6 SubmittersRCV000258405RCV000509748RCV001171443RCV001386967 |
|
NM_000059.4(BRCA2):c.7007+1G>T
|
SNV Germline |
Chr13:32346897 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA024704 |
rs_397507891 |
3 SubmittersRCV000482364RCV001175443RCV003234767 |
|
NM_000059.4(BRCA2):c.7007+5G>A
|
SNV Germline |
Chr13:32346901 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA024707 |
rs_81002816 |
15 SubmittersRCV000045110RCV000077393RCV000167485RCV000481869RCV000735594RCV001171444RCV003473392 |
|
NM_000059.4(BRCA2):c.7007+5G>C
|
SNV Germline |
Chr13:32346901 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA024710 |
rs_81002816 |
4 SubmittersRCV000113684RCV001327861RCV004948159 |
|
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
|
SNV Germline |
Chr13:32346896 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia complementation group D1 |
Criteria Provided Multiple Submitters No Conflicts |
CA024716 |
rs_28897743 |
17 SubmittersRCV000045113RCV000077394RCV000214499RCV000256059RCV000475905RCV001353724RCV001171445RCV001310135RCV001269283 |
|
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)
|
SNV Germline/somatic |
Chr13:32346896 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA024720 |
rs_28897743 |
11 SubmittersRCV000045114RCV000113685RCV000219635RCV000759653 |
|
NM_000059.4(BRCA2):c.7008-2A>G
|
SNV Germline |
Chr13:32354859 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided |
Reviewed By Expert Panel |
CA024734 |
rs_81002823 |
10 SubmittersRCV000113688RCV000509699RCV000496680RCV003473393RCV003476930 |
|
NM_000059.4(BRCA2):c.7008-2A>T
|
SNV Germline |
Chr13:32354859 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial cancer of breast |
Reviewed By Expert Panel |
CA024737 |
rs_81002823 |
14 SubmittersRCV000113689RCV000220759RCV000235662RCV000504523RCV000735596RCV003147335 |
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
SNV Germline |
Chr13:32354877 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA024765 |
rs_80358928 |
19 SubmittersRCV000077396RCV000215667RCV000496229RCV000681960RCV003473394RCV004803889RCV005357340 |
|
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)
|
SNV Germline |
Chr13:32354893 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024783 |
rs_80358929 |
13 SubmittersRCV000045126RCV000167327RCV000113695RCV000481408RCV000657035RCV004566833RCV004803890 |
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
SNV Germline |
Chr13:32354904 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome 9 conditions Malignant tumor of breast not specified Condition: not provided 8 conditions Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA024798 |
rs_80358930 |
14 SubmittersRCV000045128RCV000113696RCV000130893RCV000515244RCV001353685RCV000212257RCV000656801RCV000765134RCV003607218 |
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
SNV Germline |
Chr13:32354908 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome 8 conditions Familial cancer of breast not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024812 |
rs_80358934 |
16 SubmittersRCV000045131RCV000113699RCV000588738RCV000222667RCV002477151RCV003460605RCV003493424RCV004803892 |
|
NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter)
|
SNV Germline |
Chr13:32354913 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA024825 |
rs_80358936 |
11 SubmittersRCV000045134RCV000113702RCV000484770RCV000496490RCV000510038 |
|
NM_000059.4(BRCA2):c.707A>G (p.His236Arg)
|
SNV Germline |
Chr13:32330944 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA024845 |
rs_80358938 |
7 SubmittersRCV000114055RCV000566115RCV001369134RCV003460606RCV005357341 |
|
NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys)
|
SNV Germline |
Chr13:32354941 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA024851 |
rs_80358939 |
11 SubmittersRCV000113706RCV000164874RCV000779940RCV001294891RCV001564651RCV002250520 |
|
NM_000059.4(BRCA2):c.7115C>G (p.Ser2372Ter)
|
SNV Germline |
Chr13:32354968 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related disorder Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA024881 |
rs_80358943 |
11 SubmittersRCV000113711RCV002362676RCV000657591RCV004528249RCV001385695RCV003473395 |
|
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter)
|
SNV Germline |
Chr13:32355033 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA024928 |
rs_80358946 |
16 SubmittersRCV000045156RCV000131033RCV000077398RCV000985577RCV003473397 |
|
NM_000059.4(BRCA2):c.71T>A (p.Leu24Ter)
|
SNV Germline |
Chr13:32319080 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA024957 |
rs_397507902 |
4 SubmittersRCV000577511RCV000661423RCV001380573RCV000583843 |
|
NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter)
|
SNV Germline |
Chr13:32355094 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA024987 |
rs_80358951 |
7 SubmittersRCV000113736RCV000217367RCV000482316RCV001389019 |
|
NM_000059.4(BRCA2):c.7241C>T (p.Ser2414Leu)
|
SNV Germline |
Chr13:32355094 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA024989 |
rs_80358951 |
6 SubmittersRCV000113737RCV000566196RCV002054867RCV004566835 |
|
NM_000059.4(BRCA2):c.7252A>G (p.Arg2418Gly)
|
SNV Germline |
Chr13:32355105 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024996 |
rs_80358953 |
9 SubmittersRCV000045176RCV000113740RCV000163032RCV000443470RCV000586914 |
|
NM_000059.4(BRCA2):c.7261C>T (p.Gln2421Ter)
|
SNV Germline |
Chr13:32355114 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025004 |
rs_397507908 |
6 SubmittersRCV000241497RCV003237425RCV003529939 |
|
NM_000059.4(BRCA2):c.7301A>C (p.Lys2434Thr)
|
SNV Germline |
Chr13:32355154 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Endometrial carcinoma Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025018 |
rs_80358954 |
8 SubmittersRCV000113743RCV000212258RCV001314286RCV001356899RCV000562219 |
|
NM_000059.4(BRCA2):c.7303C>T (p.Gln2435Ter)
|
SNV Germline |
Chr13:32355156 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast-ovarian cancer, familial, susceptibility to, 1 |
Reviewed By Expert Panel |
CA025020 |
rs_397507910 |
3 SubmittersRCV000257341RCV001310175 |
|
NM_000059.4(BRCA2):c.7313A>G (p.Asp2438Gly)
|
SNV Germline |
Chr13:32355166 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA025026 |
rs_80358957 |
10 SubmittersRCV000045186RCV000113745RCV000165902RCV000435280RCV003149689 |
|
NM_000059.4(BRCA2):c.733A>T (p.Arg245Ter)
|
SNV Germline |
Chr13:32330970 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related disorder Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025035 |
rs_80358959 |
7 SubmittersRCV000114103RCV002460900RCV001382892RCV004528251RCV005402826 |
|
NM_000059.4(BRCA2):c.7375A>T (p.Lys2459Ter)
|
SNV Germline |
Chr13:32355228 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025046 |
rs_397507913 |
4 SubmittersRCV000257076RCV000570827RCV001852954 |
|
NM_000059.4(BRCA2):c.7394C>T (p.Ala2465Val)
|
SNV Germline |
Chr13:32355247 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Hereditary cancer Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025052 |
rs_80358960 |
10 SubmittersRCV000113750RCV000564154RCV001296258RCV004700326RCV004998156RCV004562232RCV005357344 |
|
NM_000059.4(BRCA2):c.740T>C (p.Ile247Thr)
|
SNV Germline |
Chr13:32330977 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025060 |
rs_80358962 |
8 SubmittersRCV000045201RCV000114112RCV000220097RCV004721254 |
|
NM_000059.4(BRCA2):c.7418G>A (p.Cys2473Tyr)
|
SNV Germline |
Chr13:32355271 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025072 |
rs_55924966 |
8 SubmittersRCV000113753RCV000132080RCV001284106RCV001462591RCV001192570RCV004803895 |
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
SNV Germline |
Chr13:32330979 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast neoplasm not specified Condition: not provided Hereditary breast ovarian cancer syndrome Carcinoma of colon BRCA2-related disorder Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA025077 |
rs_55854959 |
18 SubmittersRCV000114118RCV000131381RCV000148438RCV000120387RCV000586272RCV001087231RCV001355487RCV004732621RCV001798238 |
|
NM_000059.4(BRCA2):c.7435+10G>A
|
SNV Germline |
Chr13:32355298 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Fanconi anemia complementation group D1 Hereditary cancer-predisposing syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025078 |
rs_81002793 |
9 SubmittersRCV000045210RCV000113755RCV000426181RCV000302479RCV000579409RCV004542704 |
|
NM_000059.4(BRCA2):c.7436-2A>T
|
SNV Germline |
Chr13:32356426 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025085 |
rs_397507917 |
5 SubmittersRCV000258319RCV000588162RCV001179861 |
|
NM_000059.4(BRCA2):c.7438T>G (p.Leu2480Val)
|
SNV Germline |
Chr13:32356430 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025090 |
rs_80358965 |
8 SubmittersRCV000113759RCV000167294RCV001264546RCV001836723RCV001326536 |
|
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)
|
SNV Germline |
Chr13:32356440 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025094 |
rs_80358967 |
14 SubmittersRCV000045220RCV000083134RCV000129898RCV000586632RCV001082083RCV004803896 |
|
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)
|
SNV Germline |
Chr13:32356455 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025097 |
rs_80358968 |
15 SubmittersRCV000077401RCV000168600RCV000563199RCV001284108RCV001410830 |
|
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)
|
SNV Germline |
Chr13:32356456 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Condition: not provided BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025098 |
rs_80358969 |
10 SubmittersRCV000113764RCV000164219RCV001110755RCV000759655RCV004803897RCV001305633RCV004566836 |
|
NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter)
|
SNV Germline/somatic |
Chr13:32356463 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast Familial cancer of breast |
Reviewed By Expert Panel |
CA025106 |
rs_80358971 |
9 SubmittersRCV000113766RCV000509717RCV000496673RCV001357153RCV004566837 |
|
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln)
|
SNV Germline |
Chr13:32356473 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025110 |
rs_80358973 |
10 SubmittersRCV000083135RCV000478347RCV000164832RCV001375523RCV000709331RCV005357347 |
|
NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr)
|
SNV Germline |
Chr13:32356476 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025112 |
rs_80358974 |
10 SubmittersRCV000077402RCV000162811RCV000478977RCV000657023RCV001080469RCV000779955 |
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
SNV Germline |
Chr13:32356514 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast neoplasm Hereditary breast ovarian cancer syndrome Infiltrating duct carcinoma of breast Ovarian cancer Malignant tumor of pancreas Malignant tumor of breast Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025130 |
rs_80358978 |
18 SubmittersRCV000077404RCV000164682RCV000203651RCV000120359RCV000240741RCV001084266RCV000677860RCV000677861RCV000677862RCV001353972RCV002250521 |
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
SNV Germline |
Chr13:32356550 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of breast Familial cancer of breast Breast and/or ovarian cancer BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA025146 |
rs_80358981 |
36 SubmittersRCV000045244RCV000077405RCV000148425RCV000210182RCV000217859RCV000162645RCV001353932RCV002250522RCV001170971RCV004803898 |
|
NM_000059.4(BRCA2):c.7561A>G (p.Ile2521Val)
|
SNV Germline |
Chr13:32356553 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025151 |
rs_80358983 |
3 SubmittersRCV000113776RCV000219637RCV001857374 |
|
NM_000059.4(BRCA2):c.7562T>C (p.Ile2521Thr)
|
SNV Germline |
Chr13:32356554 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025152 |
rs_80358984 |
6 SubmittersRCV000083137RCV000572552RCV002054868RCV002267816 |
|
NM_000059.4(BRCA2):c.7583G>A (p.Gly2528Glu)
|
SNV Germline |
Chr13:32356575 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025162 |
rs_80358986 |
5 SubmittersRCV000113777RCV003644872RCV001191394RCV004998158 |
|
NM_000059.4(BRCA2):c.7610A>G (p.His2537Arg)
|
SNV Germline |
Chr13:32356602 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA025178 |
rs_80358988 |
5 SubmittersRCV000045257RCV000113792RCV000573982RCV000759662RCV002465499 |
|
NM_000059.4(BRCA2):c.7612A>T (p.Lys2538Ter)
|
SNV Germline |
Chr13:32356604 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025180 |
rs_397507921 |
3 SubmittersRCV000257025RCV001852955 |
|
NM_000059.4(BRCA2):c.7617+1G>A
|
SNV Germline |
Chr13:32356610 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast BRCA2-related disorder |
Reviewed By Expert Panel |
CA025182 |
rs_397507922 |
18 SubmittersRCV000045259RCV000083138RCV000486153RCV000579436RCV003473403RCV004724780 |
|
NM_000059.4(BRCA2):c.7617+1G>T
|
SNV Germline |
Chr13:32356610 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025183 |
rs_397507922 |
14 SubmittersRCV000258277RCV000585725RCV001190945RCV001264497 |
|
NM_000059.4(BRCA2):c.7617+2T>G
|
SNV Germline |
Chr13:32356611 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome 8 conditions |
Reviewed By Expert Panel |
CA025184 |
rs_81002843 |
13 SubmittersRCV000045261RCV000113793RCV001701586RCV001804774RCV002504935 |
|
NM_000059.4(BRCA2):c.7617+4T>C
|
SNV Germline |
Chr13:32356613 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified BRCA2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025185 |
rs_397507923 |
7 SubmittersRCV000045262RCV000083139RCV000130854RCV000508569RCV004724781RCV001675600 |
|
NM_000059.4(BRCA2):c.7618-16T>G
|
SNV Germline |
Chr13:32357726 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA025187 |
rs_397507924 |
5 SubmittersRCV000235946RCV001084315RCV000781058RCV000771917RCV005007974 |
|
NM_000059.4(BRCA2):c.7618-1G>C
|
SNV Germline |
Chr13:32357741 |
Likely pathogenic |
Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA025189 |
rs_397507389 |
2 SubmittersRCV000576958RCV004783735 |
|
NM_000059.4(BRCA2):c.7631G>A (p.Gly2544Asp)
|
SNV Germline |
Chr13:32357755 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025201 |
rs_397507926 |
6 SubmittersRCV000045271RCV000214936RCV000483279RCV002250523RCV003493426 |
|
NM_000059.4(BRCA2):c.7633G>A (p.Val2545Ile)
|
SNV Germline |
Chr13:32357757 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025202 |
rs_80358990 |
11 SubmittersRCV000045272RCV000113799RCV000130821RCV000212262RCV003607219RCV004803899 |
|
NM_000059.4(BRCA2):c.7639A>G (p.Lys2547Glu)
|
SNV Germline |
Chr13:32357763 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025207 |
rs_80358991 |
6 SubmittersRCV000113800RCV000216129RCV000985591RCV001852956RCV005357349 |
|
NM_000059.4(BRCA2):c.7647C>A (p.Cys2549Ter)
|
SNV Germline |
Chr13:32357771 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA025210 |
rs_80358993 |
3 SubmittersRCV000113801 |
|
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter)
|
SNV Germline |
Chr13:32357805 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA025228 |
rs_80358994 |
12 SubmittersRCV000083140RCV000496838RCV000507834RCV004719682RCV000773271RCV003460612 |
|
NM_000059.4(BRCA2):c.7696G>T (p.Asp2566Tyr)
|
SNV Germline |
Chr13:32357820 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025235 |
rs_80358996 |
4 SubmittersRCV000113806RCV000574470RCV001298239RCV003330413 |
|
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)
|
SNV Germline |
Chr13:32357836 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Breast and/or ovarian cancer not specified |
Criteria Provided Conflicting Classifications |
CA025242 |
rs_55689095 |
13 SubmittersRCV000045293RCV000195380RCV000130819RCV000113807RCV000590609RCV003492366RCV001549278 |
|
NM_000059.4(BRCA2):c.7721G>A (p.Trp2574Ter)
|
SNV Germline |
Chr13:32357845 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA025247 |
rs_80358997 |
10 SubmittersRCV000077408RCV000416519RCV001026755RCV005357350RCV000657751RCV003473405 |
|
NM_000059.4(BRCA2):c.772C>T (p.Gln258Ter)
|
SNV Germline |
Chr13:32331009 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA025248 |
rs_80358998 |
9 SubmittersRCV000045296RCV000077409RCV000131846RCV004566838 |
|
NM_000059.4(BRCA2):c.7738C>T (p.Gln2580Ter)
|
SNV Germline |
Chr13:32357862 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025250 |
rs_80358999 |
8 SubmittersRCV000113809RCV000496258RCV004948160 |
|
NM_000059.4(BRCA2):c.7751G>A (p.Gly2584Asp)
|
SNV Germline |
Chr13:32357875 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025256 |
rs_80359001 |
7 SubmittersRCV000113811RCV000131991RCV000485049RCV002281734RCV001371400 |
|
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg)
|
SNV Germline |
Chr13:32357877 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025257 |
rs_80359002 |
10 SubmittersRCV000113812RCV000212263RCV001290191RCV000773272 |
|
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter)
|
SNV Germline |
Chr13:32357881 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer BRCA2-related disorder Familial cancer of breast |
Reviewed By Expert Panel |
CA025259 |
rs_80359003 |
19 SubmittersRCV000045302RCV000077410RCV000131087RCV000215688RCV000735604RCV004732622RCV003460613 |
|
NM_000059.4(BRCA2):c.775A>T (p.Arg259Ter)
|
SNV Germline |
Chr13:32331012 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 |
Reviewed By Expert Panel |
CA025262 |
rs_397507937 |
3 SubmittersRCV000661611RCV000577353RCV001310168 |
|
NM_000059.4(BRCA2):c.7766C>A (p.Pro2589His)
|
SNV Germline |
Chr13:32357890 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025267 |
rs_80359005 |
5 SubmittersRCV000045308RCV000083141RCV000509978 |
|
NM_000059.4(BRCA2):c.7772A>G (p.Asn2591Ser)
|
SNV Germline/somatic |
Chr13:32357896 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025270 |
rs_80359006 |
7 SubmittersRCV000113816RCV000240696RCV000677097RCV001341578RCV002271389 |
|
NM_000059.4(BRCA2):c.7783G>T (p.Ala2595Ser)
|
SNV Germline |
Chr13:32357907 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025273 |
rs_80359007 |
9 SubmittersRCV000113817RCV000509610RCV000985593RCV001299396RCV002468999RCV004566839 |
|
NM_000059.4(BRCA2):c.7805+1G>A
|
SNV Germline |
Chr13:32357930 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA025280 |
rs_81002809 |
9 SubmittersRCV000077411RCV000239169RCV000573701RCV003473406 |
|
NM_000059.4(BRCA2):c.7805+3A>C
|
SNV Germline |
Chr13:32357932 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025281 |
rs_81002810 |
4 SubmittersRCV000113820RCV000496579RCV002408542 |
|
NM_000059.4(BRCA2):c.7805G>C (p.Arg2602Thr)
|
SNV Germline |
Chr13:32357929 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA025285 |
rs_397507938 |
1 SubmittersRCV000258178 |
|
NM_000059.4(BRCA2):c.7806-1G>T
|
SNV Germline |
Chr13:32362522 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025288 |
rs_81002860 |
11 SubmittersRCV000113825RCV000583733RCV001284586RCV000779979 |
|
NM_000059.4(BRCA2):c.7806-2A>G
|
SNV Germline |
Chr13:32362521 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Ovarian neoplasm Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast |
Reviewed By Expert Panel |
CA025289 |
rs_81002836 |
23 SubmittersRCV000045321RCV000077414RCV000414989RCV000131088RCV001281729RCV001310176RCV003473407 |
|
NM_000059.4(BRCA2):c.7806-9T>G
|
SNV Germline/somatic |
Chr13:32362514 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025293 |
rs_397507939 |
5 SubmittersRCV000113827RCV000496319RCV005520224RCV003529940 |
|
NM_000059.4(BRCA2):c.7819A>C (p.Thr2607Pro)
|
SNV Germline |
Chr13:32362536 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025298 |
rs_80359008 |
3 SubmittersRCV000045325RCV000113829RCV002408543 |
|
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)
|
SNV Germline |
Chr13:32362543 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA025300 |
rs_80359009 |
8 SubmittersRCV000113831RCV000500087RCV001176367RCV001353930 |
|
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly)
|
SNV Germline |
Chr13:32362549 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025304 |
rs_80359010 |
10 SubmittersRCV000045327RCV000113832RCV000165314RCV001762151 |
|
NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter)
|
SNV Germline |
Chr13:32362573 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Malignant tumor of breast |
Reviewed By Expert Panel |
CA025309 |
rs_397507941 |
6 SubmittersRCV000045330RCV000241188RCV001529491RCV001353959 |
|
NM_000059.4(BRCA2):c.7863T>A (p.Tyr2621Ter)
|
SNV Germline |
Chr13:32362580 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA025312 |
rs_276174896 |
4 SubmittersRCV000113834RCV003991534 |
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
SNV Germline |
Chr13:32362596 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome 8 conditions Familial cancer of breast not specified BRCA2-related cancer predisposition 8 conditions |
Reviewed By Expert Panel |
CA025321 |
rs_80359014 |
26 SubmittersRCV000045337RCV000077415RCV000218666RCV000131675RCV000763326RCV001289537RCV001171395RCV004566841RCV005007975 |
|
NM_000059.4(BRCA2):c.7886G>A (p.Trp2629Ter)
|
SNV Germline |
Chr13:32362603 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA025323 |
rs_80359015 |
7 SubmittersRCV000113835RCV001682746RCV001382838RCV005357351 |
|
NM_000059.4(BRCA2):c.7908T>A (p.Cys2636Ter)
|
SNV Germline |
Chr13:32362625 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025327 |
rs_80359016 |
6 SubmittersRCV000113836RCV000496743 |
|
NM_000059.4(BRCA2):c.7915C>G (p.Pro2639Ala)
|
SNV Germline |
Chr13:32362632 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025334 |
rs_80359017 |
8 SubmittersRCV000113838RCV000564997RCV001363807RCV004803900RCV003460614 |
|
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)
|
SNV Germline |
Chr13:32362645 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA025338 |
rs_80359018 |
13 SubmittersRCV000045344RCV000077416RCV000129050RCV001284588RCV002307382RCV003492367 |
|
NM_000059.4(BRCA2):c.793+1G>A
|
SNV Germline |
Chr13:32331031 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA025342 |
rs_81002846 |
16 SubmittersRCV000045345RCV000112827RCV000239312RCV000568255RCV001310169RCV003473409 |
|
NM_000059.4(BRCA2):c.793+1G>T
|
SNV Germline |
Chr13:32331031 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025343 |
rs_81002846 |
5 SubmittersRCV000112828RCV001026969RCV003644873 |
|
NM_000059.4(BRCA2):c.7931A>G (p.Asn2644Ser)
|
SNV Germline |
Chr13:32362648 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025341 |
rs_80359020 |
13 SubmittersRCV000077417RCV000162644RCV000501144RCV001325093RCV004566842RCV003159092 |
|
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro)
|
SNV Germline |
Chr13:32362657 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA025346 |
rs_80359021 |
10 SubmittersRCV000083142RCV000162550RCV001379642RCV000486997RCV004537206 |
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
SNV Germline |
Chr13:32362675 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer BRCA2-related disorder Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA025354 |
rs_80359022 |
14 SubmittersRCV000113844RCV000770732RCV001824590RCV003473411RCV000505706RCV000575206RCV001381193RCV005357352 |
|
NM_000059.4(BRCA2):c.7961T>C (p.Leu2654Pro)
|
SNV Germline |
Chr13:32362678 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025355 |
rs_80359023 |
6 SubmittersRCV000113845RCV000575154RCV001322453RCV001550363 |
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
SNV Germline |
Chr13:32362681 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Fanconi anemia |
Criteria Provided Multiple Submitters No Conflicts |
CA025358 |
rs_80359024 |
18 SubmittersRCV000113846RCV000212265RCV000510118RCV001378206RCV003460615RCV005237472 |
|
NM_000059.4(BRCA2):c.7976+12G>A
|
SNV Germline |
Chr13:32362705 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Malignant tumor of breast Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA025363 |
rs_81002827 |
13 SubmittersRCV000045362RCV000129688RCV000113847RCV000195308RCV000293235RCV001353771RCV003492368 |
|
NM_000059.4(BRCA2):c.7976+1G>A
|
SNV Germline/somatic |
Chr13:32362694 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025364 |
rs_81002873 |
11 SubmittersRCV000077419RCV000131083RCV000235799RCV001388428 |
|
NM_000059.4(BRCA2):c.7976G>C (p.Arg2659Thr)
|
SNV Germline |
Chr13:32362693 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025369 |
rs_80359027 |
3 SubmittersRCV000113849RCV000583576 |
|
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp)
|
SNV Germline |
Chr13:32363180 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025377 |
rs_80359029 |
6 SubmittersRCV000077420RCV000480484RCV001386986RCV000773273 |
|
NM_000059.4(BRCA2):c.7980T>G (p.Tyr2660Ter)
|
SNV Germline |
Chr13:32363182 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Reviewed By Expert Panel |
CA025381 |
rs_397507949 |
5 SubmittersRCV000225390RCV000449211RCV001356184 |
|
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys)
|
SNV Germline |
Chr13:32363189 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA025384 |
rs_80359030 |
8 SubmittersRCV000077421RCV000163114RCV001324234RCV001811313RCV001354518 |
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
SNV Germline |
Chr13:32363190 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer 8 conditions not specified Inherited ovarian cancer (without breast cancer) Familial cancer of breast |
Reviewed By Expert Panel |
CA025385 |
rs_80359031 |
27 SubmittersRCV000077422RCV000163034RCV000257984RCV000484277RCV000735605RCV000763327RCV001001328RCV005416028RCV003460616 |
|
NM_000059.4(BRCA2):c.7996A>T (p.Arg2666Ter)
|
SNV Germline |
Chr13:32363198 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA025391 |
rs_80359032 |
3 SubmittersRCV000113853 |
|
NM_000059.4(BRCA2):c.7997G>C (p.Arg2666Thr)
|
SNV Germline |
Chr13:32363199 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025392 |
rs_80359033 |
6 SubmittersRCV000045380RCV000113854RCV000561371RCV004566843RCV005229864 |
|
NM_000059.4(BRCA2):c.79A>G (p.Ile27Val)
|
SNV Germline |
Chr13:32319088 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Familial cancer of breast not specified BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025394 |
rs_80359034 |
14 SubmittersRCV000164869RCV000113106RCV000499803RCV001344985RCV001358408RCV003473412RCV003993776RCV004732624RCV004803902 |
|
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter)
|
SNV Germline |
Chr13:32363204 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided |
Reviewed By Expert Panel |
CA025396 |
rs_276174900 |
11 SubmittersRCV000113855RCV000569144RCV000585730RCV000503440RCV001310177RCV000657634 |
|
NM_000059.4(BRCA2):c.8009C>A (p.Ser2670Ter)
|
SNV Germline |
Chr13:32363211 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA025400 |
rs_80359035 |
7 SubmittersRCV000496340RCV000569299RCV000239017 |
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
SNV Germline |
Chr13:32363211 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 1 Malignant tumor of breast Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome 8 conditions BRCA2-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA025401 |
rs_80359035 |
21 SubmittersRCV000045385RCV000077423RCV000212267RCV000131082RCV000496611RCV000409052RCV001270290RCV001762153RCV001171451RCV002504936RCV004732625 |
|
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)
|
SNV Germline |
Chr13:32332278 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer not specified |
Criteria Provided Conflicting Classifications |
CA025402 |
rs_80359036 |
13 SubmittersRCV000045386RCV000112833RCV000164234RCV000589465RCV003492369RCV001280539 |
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
SNV Germline |
Chr13:32363225 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Gastric cancer 8 conditions Familial cancer of breast BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA025410 |
rs_397507954 |
18 SubmittersRCV000045390RCV000132001RCV000258421RCV001550183RCV003162386RCV002483046RCV002272041RCV004566845 |
|
NM_000059.4(BRCA2):c.8032A>G (p.Arg2678Gly)
|
SNV Germline |
Chr13:32363234 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025414 |
rs_80359039 |
8 SubmittersRCV000045394RCV000077424RCV000496893RCV000572606RCV001588866RCV004566846 |
|
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)
|
SNV Germline |
Chr13:32363238 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025417 |
rs_80359041 |
13 SubmittersRCV000045397RCV000113859RCV000131797RCV000484310RCV000759667RCV004732626RCV004803903 |
|
NM_000059.4(BRCA2):c.8039A>G (p.Asp2680Gly)
|
SNV Germline |
Chr13:32363241 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Inherited ovarian cancer (without breast cancer) Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA025418 |
rs_80359042 |
8 SubmittersRCV000113860RCV001818220RCV002408544RCV001317869RCV005055063RCV005357353 |
|
NM_000059.4(BRCA2):c.8051A>G (p.Lys2684Arg)
|
SNV Germline |
Chr13:32363253 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025421 |
rs_80359043 |
11 SubmittersRCV000045401RCV000077426RCV000132517RCV000759668RCV001356800RCV004803904 |
|
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro)
|
SNV Germline |
Chr13:32363259 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA025427 |
rs_28897746 |
8 SubmittersRCV000113861RCV000568548RCV001264563RCV000479056 |
|
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe)
|
SNV Germline |
Chr13:32363261 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related disorder Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025429 |
rs_80359044 |
5 SubmittersRCV000113863RCV000212269RCV001346741RCV004528252RCV000571107 |
|
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)
|
SNV Germline |
Chr13:32363269 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA025435 |
rs_80359046 |
18 SubmittersRCV000113864RCV000657589RCV000416520RCV000571445RCV003473414RCV005357354 |
|
NM_000059.4(BRCA2):c.8084C>G (p.Ser2695Ter)
|
SNV Germline |
Chr13:32363286 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025443 |
rs_80359048 |
4 SubmittersRCV000113868RCV002415498 |
|
NM_000059.4(BRCA2):c.8084C>T (p.Ser2695Leu)
|
SNV Germline |
Chr13:32363286 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA025444 |
rs_80359048 |
9 SubmittersRCV000113869RCV000509622RCV001371246RCV001703948RCV002307383 |
|
NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter)
|
SNV Germline |
Chr13:32363289 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025447 |
rs_80359050 |
7 SubmittersRCV000113870RCV000585696RCV002274907RCV002514211RCV003343621 |
|
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)
|
SNV Germline |
Chr13:32363292 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025449 |
rs_80359051 |
20 SubmittersRCV000045420RCV000129422RCV000083143RCV000203629RCV001081007RCV001798239RCV001762154 |
|
NM_000059.4(BRCA2):c.8098A>C (p.Ile2700Leu)
|
SNV Germline |
Chr13:32363300 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025452 |
rs_80359053 |
11 SubmittersRCV000077427RCV000130878RCV000195382RCV000588136RCV004803906 |
|
NM_000059.4(BRCA2):c.809C>G (p.Ser270Ter)
|
SNV Germline |
Chr13:32332287 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025454 |
rs_276174902 |
6 SubmittersRCV000112846RCV001027170RCV001390076 |
|
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe)
|
SNV Germline |
Chr13:32363313 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025457 |
rs_80359054 |
16 SubmittersRCV000113873RCV000148440RCV000166944RCV000486644RCV001084853RCV001818221 |
|
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn)
|
SNV Germline |
Chr13:32363336 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition 8 conditions |
Criteria Provided Conflicting Classifications |
CA025466 |
rs_80359056 |
16 SubmittersRCV000045427RCV000083144RCV000130697RCV000218294RCV003993777RCV004803907RCV005007976 |
|
NM_000059.4(BRCA2):c.8135A>T (p.Asp2712Val)
|
SNV Germline |
Chr13:32363337 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025467 |
rs_80359057 |
9 SubmittersRCV000045428RCV000077428RCV000130071RCV000236985RCV004566847 |
|
NM_000059.4(BRCA2):c.8140C>T (p.Gln2714Ter)
|
SNV Germline/somatic |
Chr13:32363342 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Gastric cancer Malignant tumor of urinary bladder |
Reviewed By Expert Panel |
CA025469 |
rs_80359058 |
6 SubmittersRCV000113875RCV001380788RCV003162388RCV003332102 |
|
NM_000059.4(BRCA2):c.8141A>G (p.Gln2714Arg)
|
SNV Germline |
Chr13:32363343 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025470 |
rs_80359059 |
10 SubmittersRCV000045430RCV000113876RCV000129843RCV000212270RCV000781082RCV004803908 |
|
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His)
|
SNV Germline |
Chr13:32363364 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025477 |
rs_80359061 |
5 SubmittersRCV000113878RCV000223648RCV001290195 |
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
SNV Germline |
Chr13:32363369 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome 8 conditions Carcinoma of pancreas Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast BRCA2-related disorder |
Reviewed By Expert Panel |
CA025482 |
rs_41293511 |
33 SubmittersRCV000045436RCV000074555RCV000077429RCV000131674RCV000763328RCV001391219RCV001170973RCV001353843RCV003473415RCV004537207 |
|
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)
|
SNV Germline |
Chr13:32363370 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA025483 |
rs_41293513 |
9 SubmittersRCV000045437RCV000113879RCV000218818RCV000200976RCV004566848 |
|
NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val)
|
SNV Germline |
Chr13:32363373 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025486 |
rs_80359063 |
3 SubmittersRCV000113881RCV000560980RCV003644874 |
|
NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter)
|
SNV Germline |
Chr13:32363377 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025490 |
rs_397507965 |
6 SubmittersRCV000577692RCV000661848RCV001310180RCV001382382RCV002426595 |
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
SNV Germline |
Chr13:32363379 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA025491 |
rs_80359064 |
15 SubmittersRCV000045442RCV000077430RCV000212271RCV000130671RCV004803909RCV003473416 |
|
NM_000059.4(BRCA2):c.8182G>C (p.Val2728Leu)
|
SNV Germline |
Chr13:32363384 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025495 |
rs_28897749 |
5 SubmittersRCV000045444RCV000113883RCV000573475 |
|
NM_000059.4(BRCA2):c.818C>A (p.Ser273Ter)
|
SNV Germline |
Chr13:32332296 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025501 |
rs_80359068 |
7 SubmittersRCV000239330RCV000657626RCV000219107RCV001387344 |
|
NM_000059.4(BRCA2):c.818C>G (p.Ser273Ter)
|
SNV Germline |
Chr13:32332296 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025502 |
rs_80359068 |
5 SubmittersRCV000112854RCV000657761RCV001383011 |
|
NM_000059.4(BRCA2):c.8191C>T (p.Gln2731Ter)
|
SNV Germline |
Chr13:32363393 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Reviewed By Expert Panel |
CA025503 |
rs_397507966 |
5 SubmittersRCV000577609RCV000661582RCV003162389RCV000657635 |
|
NM_000059.4(BRCA2):c.8195T>G (p.Leu2732Ter)
|
SNV Germline |
Chr13:32363397 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Reviewed By Expert Panel |
CA025504 |
rs_397507967 |
5 SubmittersRCV000257547RCV000412877RCV004018935RCV005357355 |
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
SNV Germline |
Chr13:32363417 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Malignant tumor of breast Fanconi anemia complementation group D1 Breast and/or ovarian cancer BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025521 |
rs_80359069 |
19 SubmittersRCV000045453RCV000077431RCV000129733RCV000214196RCV001080912RCV001353878RCV001110061RCV003149693RCV004537208 |
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
SNV Germline |
Chr13:32363445 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Gastric cancer Familial cancer of breast |
Reviewed By Expert Panel |
CA025535 |
rs_80359071 |
25 SubmittersRCV000045460RCV000113895RCV000216216RCV000481847RCV003162390RCV003473417 |
|
NM_000059.4(BRCA2):c.8254A>T (p.Ile2752Phe)
|
SNV Germline |
Chr13:32363456 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025541 |
rs_80359072 |
7 SubmittersRCV000045463RCV000130435RCV000113898RCV001582544 |
|
NM_000059.4(BRCA2):c.8314G>T (p.Glu2772Ter)
|
SNV Germline |
Chr13:32363516 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025564 |
rs_397507975 |
4 SubmittersRCV000166747RCV000241200RCV001380792 |
|
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr)
|
SNV Germline |
Chr13:32363526 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related disorder Familial cancer of breast Cancer or benign tumor |
Criteria Provided Conflicting Classifications |
CA025573 |
rs_80359073 |
13 SubmittersRCV000045473RCV000113902RCV000130178RCV000213690RCV002222369RCV004537209RCV004566850RCV005625251 |
|
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg)
|
SNV Germline |
Chr13:32363526 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Condition: not provided not specified BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025574 |
rs_80359073 |
12 SubmittersRCV000045474RCV000113903RCV000129803RCV000769702RCV000587216RCV001175342RCV004537210 |
|
NM_000059.4(BRCA2):c.8327T>G (p.Leu2776Ter)
|
SNV Germline |
Chr13:32363529 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer |
Reviewed By Expert Panel |
CA025575 |
rs_397507977 |
3 SubmittersRCV000257530RCV001798240 |
|
NM_000059.4(BRCA2):c.8331+1G>T
|
SNV Germline |
Chr13:32363534 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA025579 |
rs_81002837 |
3 SubmittersRCV000113904RCV000496807RCV002433532 |
|
NM_000059.4(BRCA2):c.8331G>A (p.Lys2777=)
|
SNV Germline |
Chr13:32363533 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025582 |
rs_80359802 |
3 SubmittersRCV000113906RCV003352758RCV005357357 |
|
NM_000059.4(BRCA2):c.8332-1G>C
|
SNV Germline |
Chr13:32370401 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Multiple Submitters No Conflicts |
CA025583 |
rs_397507979 |
4 SubmittersRCV000577132RCV001356312RCV002433533RCV002496696 |
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
SNV Germline |
Chr13:32370421 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Familial cancer of breast Condition: not provided BRCA2-related disorder Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025594 |
rs_80359076 |
23 SubmittersRCV000045488RCV000077435RCV000148441RCV000129468RCV000769704RCV003473419RCV001269526RCV004542707RCV005357358 |
|
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)
|
SNV Germline |
Chr13:32370426 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Prostate cancer Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025598 |
rs_80359077 |
14 SubmittersRCV000077436RCV000130784RCV000220216RCV001082678RCV000677863RCV000588037 |
|
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)
|
SNV Germline |
Chr13:32370429 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast Pancreatic cancer, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025600 |
rs_41293517 |
12 SubmittersRCV000113912RCV000130122RCV000305632RCV001088658RCV000656804RCV001269500RCV005357359 |
|
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg)
|
SNV Germline |
Chr13:32370432 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025602 |
rs_80359079 |
5 SubmittersRCV000113915RCV000219719RCV001290197RCV001574924 |
|
NM_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter)
|
SNV Germline/somatic |
Chr13:32370433 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Malignant tumor of urinary bladder |
Reviewed By Expert Panel |
CA025603 |
rs_80359080 |
9 SubmittersRCV000162060RCV001017605RCV001271063RCV001381657RCV003332103 |
|
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser)
|
SNV Germline |
Chr13:32370433 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025604 |
rs_80359080 |
5 SubmittersRCV000113916RCV001290198RCV001017606 |
|
NM_000059.4(BRCA2):c.8364G>A (p.Trp2788Ter)
|
SNV Germline |
Chr13:32370434 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Gastric cancer BRCA2-related disorder |
Reviewed By Expert Panel |
CA025605 |
rs_397507981 |
15 SubmittersRCV000216791RCV000236926RCV000241319RCV000496647RCV003162391RCV004724782 |
|
NM_000059.4(BRCA2):c.8368A>T (p.Thr2790Ser)
|
SNV Germline |
Chr13:32370438 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA025608 |
rs_80359081 |
10 SubmittersRCV000045497RCV000083146RCV000165808RCV000679190RCV003330414 |
|
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro)
|
SNV Germline |
Chr13:32370445 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025612 |
rs_28897751 |
6 SubmittersRCV000113921RCV001017646RCV001290199RCV003137581 |
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
SNV Germline |
Chr13:32370447 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Multiple Submitters No Conflicts |
CA025613 |
rs_80359082 |
20 SubmittersRCV000045499RCV000074556RCV000077437RCV000131353RCV000496849RCV003473420RCV004732628RCV004803910 |
|
NM_000059.4(BRCA2):c.8382C>G (p.Phe2794Leu)
|
SNV Germline |
Chr13:32370452 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025617 |
rs_80359084 |
10 SubmittersRCV000130127RCV000113922RCV001326297RCV000766553RCV003460618 |
|
NM_000059.4(BRCA2):c.838A>G (p.Lys280Glu)
|
SNV Germline |
Chr13:32332316 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025621 |
rs_80359085 |
7 SubmittersRCV000112857RCV001296381RCV000776393RCV002271390RCV003476932 |
|
NM_000059.4(BRCA2):c.8398C>T (p.Pro2800Ser)
|
SNV Germline |
Chr13:32370468 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025626 |
rs_80359086 |
6 SubmittersRCV000113926RCV002267817RCV000773274RCV001857375RCV004803911 |
|
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn)
|
SNV Germline |
Chr13:32332319 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA2-related cancer predisposition BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025634 |
rs_80359088 |
12 SubmittersRCV000077438RCV000130406RCV001081452RCV000482899RCV000586972RCV004803912RCV004732629 |
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
SNV Germline |
Chr13:32370490 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025635 |
rs_55763607 |
15 SubmittersRCV000045513RCV000083147RCV000130247RCV000212274RCV000588703RCV001353406RCV004803913 |
|
NM_000059.4(BRCA2):c.8428A>C (p.Ser2810Arg)
|
SNV Germline |
Chr13:32370498 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025640 |
rs_80359089 |
3 SubmittersRCV000113929RCV002257387 |
|
NM_000059.4(BRCA2):c.8428A>G (p.Ser2810Gly)
|
SNV Germline |
Chr13:32370498 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Malignant tumor of breast Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer not specified |
Criteria Provided Conflicting Classifications |
CA025641 |
rs_80359089 |
10 SubmittersRCV000129757RCV000113930RCV000657058RCV000484281RCV001314399RCV001170975RCV005055547 |
|
NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly)
|
SNV Germline |
Chr13:32370502 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial prostate cancer BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025642 |
rs_80359090 |
11 SubmittersRCV000045516RCV000113931RCV000455611RCV000771458RCV001284112RCV005364930RCV004732630 |
|
NM_000059.4(BRCA2):c.8438G>A (p.Gly2813Glu)
|
SNV Germline |
Chr13:32370508 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025646 |
rs_80359092 |
5 SubmittersRCV000045520RCV000113933RCV000567212RCV004803915 |
|
NM_000059.4(BRCA2):c.8451T>A (p.Cys2817Ter)
|
SNV Germline |
Chr13:32370521 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA025650 |
rs_397507987 |
2 SubmittersRCV000256626 |
|
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile)
|
SNV Germline |
Chr13:32370522 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025651 |
rs_80359094 |
14 SubmittersRCV000045523RCV000113935RCV000166574RCV000212275RCV001193320RCV003460619RCV005357361 |
|
NM_000059.4(BRCA2):c.8462T>C (p.Ile2821Thr)
|
SNV Germline |
Chr13:32370532 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025654 |
rs_80359096 |
5 SubmittersRCV000113938RCV000575289RCV003488364RCV000502475RCV002514212 |
|
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)
|
SNV Germline |
Chr13:32332325 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Familial prostate cancer Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA025663 |
rs_80359097 |
14 SubmittersRCV000045529RCV000077440RCV000164639RCV001114949RCV005357362RCV001561218RCV003235008 |
|
NM_000059.4(BRCA2):c.8482A>G (p.Ile2828Val)
|
SNV Germline |
Chr13:32370552 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified BRCA2-related disorder Prostate cancer BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025664 |
rs_80359098 |
12 SubmittersRCV000045530RCV000113940RCV000129626RCV000507614RCV004732631RCV003137582RCV004803916 |
|
NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter)
|
SNV Germline |
Chr13:32370555 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided |
Reviewed By Expert Panel |
CA025665 |
rs_80359099 |
10 SubmittersRCV000113942RCV001525854RCV001383608RCV002271989RCV004797775 |
|
NM_000059.4(BRCA2):c.8487+1G>A
|
SNV Germline |
Chr13:32370558 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA025670 |
rs_81002798 |
18 SubmittersRCV000077441RCV000122367RCV000131086RCV000212276RCV000220501RCV003473422 |
|
NM_000059.4(BRCA2):c.8487+3A>G
|
SNV Germline |
Chr13:32370560 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder Hearing impairment Cerebral palsy Neurodevelopmental delay Familial cancer of breast Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 |
Criteria Provided Multiple Submitters No Conflicts |
CA025672 |
rs_81002806 |
12 SubmittersRCV000113945RCV000502951RCV000571631RCV001379438RCV000985604RCV004732632RCV001007900RCV002272042RCV003483454 |
|
NM_000059.4(BRCA2):c.8487+4T>C
|
SNV Germline |
Chr13:32370561 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025674 |
rs_81002801 |
5 SubmittersRCV000113947RCV001300602RCV000589603RCV000434390RCV002444502 |
|
NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter)
|
SNV Germline |
Chr13:32370957 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA025679 |
rs_80359101 |
12 SubmittersRCV000077442RCV000222775RCV000484831RCV000569959RCV003473423 |
|
NM_000059.4(BRCA2):c.8504C>A (p.Ser2835Ter)
|
SNV Germline |
Chr13:32370972 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025685 |
rs_80359102 |
10 SubmittersRCV000113951RCV000509923RCV000985605RCV000779936 |
|
NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val)
|
SNV Germline |
Chr13:32370986 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Prostate cancer BRCA2-related cancer predisposition Familial cancer of breast BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025690 |
rs_80359103 |
16 SubmittersRCV000045543RCV000113953RCV000132218RCV000478553RCV000657032RCV003137583RCV004803918RCV003460620RCV004732633 |
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
SNV Germline |
Chr13:32370992 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025691 |
rs_80359104 |
16 SubmittersRCV000045544RCV000077443RCV000165225RCV000212277RCV000656805RCV003473424RCV004689433 |
|
NM_000059.4(BRCA2):c.8539G>A (p.Glu2847Lys)
|
SNV Germline |
Chr13:32371007 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025700 |
rs_80359108 |
10 SubmittersRCV000045551RCV000113958RCV000479458RCV000564844RCV000767049RCV004566851 |
|
NM_000059.4(BRCA2):c.8545A>G (p.Lys2849Glu)
|
SNV Germline |
Chr13:32371013 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025703 |
rs_80359109 |
9 SubmittersRCV000045552RCV000077445RCV000162806RCV000508013RCV000827098 |
|
NM_000059.4(BRCA2):c.8548G>A (p.Glu2850Lys)
|
SNV Germline |
Chr13:32371016 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025707 |
rs_80359110 |
4 SubmittersRCV000113959RCV000579812RCV001857376 |
|
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys)
|
SNV Germline |
Chr13:32371040 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025715 |
rs_80359112 |
10 SubmittersRCV000045560RCV000113961RCV000166603RCV000212278RCV000766652RCV004566852RCV004803920 |
|
NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter)
|
SNV Germline |
Chr13:32371040 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast Condition: not provided |
Reviewed By Expert Panel |
CA025716 |
rs_80359112 |
9 SubmittersRCV000113962RCV001018029RCV000496700RCV001353467RCV004998160 |
|
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg)
|
SNV Germline |
Chr13:32371041 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast and/or ovarian cancer Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025717 |
rs_80359114 |
12 SubmittersRCV000045562RCV000113963RCV000131683RCV000656806RCV001192535RCV001798241RCV005357363 |
|
NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter)
|
SNV Germline |
Chr13:32371043 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA025718 |
rs_80359115 |
12 SubmittersRCV000045563RCV000113964RCV000483527RCV000509703RCV003473425 |
|
NM_000059.4(BRCA2):c.8594T>A (p.Leu2865Ter)
|
SNV Germline |
Chr13:32371062 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA025729 |
rs_80359118 |
2 SubmittersRCV000113968 |
|
NM_000059.4(BRCA2):c.8599A>C (p.Thr2867Pro)
|
SNV Germline |
Chr13:32371067 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025730 |
rs_80359119 |
10 SubmittersRCV000083148RCV000571223RCV000507305RCV001374174RCV004566853 |
|
NM_000059.4(BRCA2):c.8620G>T (p.Glu2874Ter)
|
SNV Germline |
Chr13:32371088 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA025736 |
rs_397507996 |
2 SubmittersRCV000225505 |
|
NM_000059.4(BRCA2):c.8629G>T (p.Glu2877Ter)
|
SNV Germline |
Chr13:32371097 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Gastric cancer |
Reviewed By Expert Panel |
CA025737 |
rs_80359121 |
6 SubmittersRCV000113970RCV000218194RCV001390828RCV003162392 |
|
NM_000059.4(BRCA2):c.8632+1G>A
|
SNV Germline/somatic |
Chr13:32371101 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of urinary bladder |
Reviewed By Expert Panel |
CA025740 |
rs_397507997 |
7 SubmittersRCV000238926RCV000584092RCV001383610RCV003332104 |
|
NM_000059.4(BRCA2):c.8632+2T>G
|
SNV Germline |
Chr13:32371102 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025743 |
rs_397507998 |
3 SubmittersRCV000576919RCV001526913 |
|
NM_000059.4(BRCA2):c.8632+6A>G
|
SNV Germline |
Chr13:32371106 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025744 |
rs_81002894 |
5 SubmittersRCV000045580RCV000113973RCV001284452RCV000773275 |
|
NM_000059.4(BRCA2):c.8633-2A>T
|
SNV Germline |
Chr13:32376668 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA025750 |
rs_81002886 |
1 SubmittersRCV000258237 |
|
NM_000059.4(BRCA2):c.8644A>T (p.Lys2882Ter)
|
SNV Germline |
Chr13:32376681 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025757 |
rs_397508000 |
4 SubmittersRCV000661593RCV003529945RCV000577482RCV003343622 |
|
NM_000059.4(BRCA2):c.8663G>A (p.Arg2888His)
|
SNV Germline |
Chr13:32376700 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA025768 |
rs_80359124 |
11 SubmittersRCV000113981RCV000215217RCV000212281RCV001852959RCV003460623RCV005237473 |
|
NM_000059.4(BRCA2):c.8663G>T (p.Arg2888Leu)
|
SNV Germline |
Chr13:32376700 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025770 |
rs_80359124 |
5 SubmittersRCV000113983RCV000520379RCV001302575RCV001182803 |
|
NM_000059.4(BRCA2):c.8665G>T (p.Ala2889Ser)
|
SNV Germline |
Chr13:32376702 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025771 |
rs_80359126 |
5 SubmittersRCV000113984RCV000216553RCV001562783RCV001363806 |
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
SNV Germline |
Chr13:32376705 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025773 |
rs_80359127 |
19 SubmittersRCV000077447RCV000131717RCV001082637RCV000587037RCV003607220RCV001175344RCV004803922 |
|
NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter)
|
SNV Germline |
Chr13:32376717 |
Pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025778 |
rs_397508002 |
7 SubmittersRCV000577659RCV000581796RCV000661884RCV000585644RCV000781156 |
|
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)
|
SNV Germline |
Chr13:32376760 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025794 |
rs_28897753 |
15 SubmittersRCV000045608RCV000077449RCV000131647RCV000167857RCV001353401RCV001281731 |
|
NM_000059.4(BRCA2):c.8732C>T (p.Ala2911Val)
|
SNV Germline |
Chr13:32376769 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025797 |
rs_80359130 |
5 SubmittersRCV000113990RCV000588455RCV000223485RCV001857377 |
|
NM_000059.4(BRCA2):c.8754+1G>A
|
SNV Germline |
Chr13:32376792 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA025803 |
rs_397508006 |
9 SubmittersRCV000582129RCV000779998RCV000239149RCV001354347RCV003133124 |
|
NM_000059.4(BRCA2):c.8754+3G>C
|
SNV Germline |
Chr13:32376794 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA025805 |
rs_397508007 |
12 SubmittersRCV000045614RCV000131319RCV000521379RCV000258465 |
|
NM_000059.4(BRCA2):c.8754+4A>G
|
SNV Germline |
Chr13:32376795 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided |
Reviewed By Expert Panel |
CA025806 |
rs_81002893 |
13 SubmittersRCV000077450RCV000501422RCV000565525RCV001353977RCV001800350 |
|
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=)
|
SNV Germline |
Chr13:32376791 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA025809 |
rs_80359803 |
10 SubmittersRCV000077451RCV000131042RCV000496546RCV000523204 |
|
NM_000059.4(BRCA2):c.8756G>T (p.Gly2919Val)
|
SNV Germline |
Chr13:32379318 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related cancer predisposition Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025818 |
rs_80359131 |
12 SubmittersRCV000045621RCV000113996RCV000130693RCV000479246RCV000766295RCV004803923RCV004566854 |
|
NM_000059.4(BRCA2):c.8770G>T (p.Glu2924Ter)
|
SNV Germline |
Chr13:32379332 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025821 |
rs_80359133 |
12 SubmittersRCV000045624RCV000083149RCV000759680RCV000583458 |
|
NM_000059.4(BRCA2):c.8773C>T (p.Gln2925Ter)
|
SNV Germline |
Chr13:32379335 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025822 |
rs_80359134 |
9 SubmittersRCV000113998RCV000574376RCV001528880RCV003460625RCV005089424 |
|
NM_000059.4(BRCA2):c.8775G>C (p.Gln2925His)
|
SNV Germline |
Chr13:32379337 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025824 |
rs_80359136 |
11 SubmittersRCV000077452RCV000130540RCV001351341RCV000766542RCV005357364 |
|
NM_000059.4(BRCA2):c.8789A>G (p.Asn2930Ser)
|
SNV Germline |
Chr13:32379351 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary cancer-predisposing syndrome BRCA2-related disorder Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025826 |
rs_397508008 |
4 SubmittersRCV000502394RCV000509762RCV004528253RCV003529947 |
|
NM_000059.4(BRCA2):c.8806T>A (p.Leu2936Met)
|
SNV Germline |
Chr13:32379368 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025830 |
rs_80359137 |
3 SubmittersRCV000114003RCV000575016RCV002514214 |
|
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe)
|
SNV Germline |
Chr13:32379370 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA025832 |
rs_80359138 |
9 SubmittersRCV000045631RCV000114004RCV000130654RCV001552792RCV001844023 |
|
NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter)
|
SNV Germline |
Chr13:32332358 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA025833 |
rs_397508009 |
9 SubmittersRCV000077453RCV000520572RCV001186866RCV005364931 |
|
NM_000059.4(BRCA2):c.8821C>T (p.Gln2941Ter)
|
SNV Germline |
Chr13:32379383 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025837 |
rs_397508012 |
4 SubmittersRCV000256787RCV003529949RCV003162393 |
|
NM_000059.4(BRCA2):c.8824G>A (p.Ala2942Thr)
|
SNV Germline |
Chr13:32379386 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025838 |
rs_80359139 |
9 SubmittersRCV000045636RCV000114005RCV000129548RCV000483549RCV001001235RCV004566855 |
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
SNV Germline |
Chr13:32379412 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Breast and/or ovarian cancer Fanconi anemia complementation group D1 BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025850 |
rs_28897754 |
31 SubmittersRCV000045642RCV000162603RCV000114008RCV000120366RCV000679194RCV001170977RCV001112820RCV004528254RCV004803924 |
|
NM_000059.4(BRCA2):c.8854A>G (p.Met2952Val)
|
SNV Germline |
Chr13:32379416 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025853 |
rs_397508016 |
7 SubmittersRCV000077454RCV000166571RCV001318143RCV000507771RCV004803925 |
|
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)
|
SNV Germline |
Chr13:32379440 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast |
Reviewed By Expert Panel |
CA025859 |
rs_80359140 |
19 SubmittersRCV000045646RCV000077455RCV000162940RCV000223154RCV001310187RCV003473426 |
|
NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His)
|
SNV Germline |
Chr13:32379455 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025862 |
rs_80359141 |
8 SubmittersRCV000114012RCV000129723RCV000429093RCV001481867RCV004803926 |
|
NM_000059.4(BRCA2):c.8915T>G (p.Leu2972Trp)
|
SNV Germline |
Chr13:32379477 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025870 |
rs_80359142 |
13 SubmittersRCV000114014RCV000212282RCV000215767RCV001346965RCV002222370RCV003460626 |
|
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)
|
SNV Germline |
Chr13:32379495 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast |
Reviewed By Expert Panel |
CA025877 |
rs_80359144 |
10 SubmittersRCV000114016RCV001388609RCV000449077RCV001560201RCV001310188RCV003473427 |
|
NM_000059.4(BRCA2):c.8944A>C (p.Lys2982Gln)
|
SNV Germline |
Chr13:32379506 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA025882 |
rs_80359145 |
10 SubmittersRCV000045662RCV000114017RCV000708685RCV000985613RCV004566856RCV001818223 |
|
NM_000059.4(BRCA2):c.8953+1G>A
|
SNV Germline |
Chr13:32379516 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025889 |
rs_81002882 |
5 SubmittersRCV000258436RCV000481114RCV000772120RCV003529951 |
|
NM_000059.4(BRCA2):c.8954-3C>G
|
SNV Germline |
Chr13:32379747 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA025895 |
rs_81002844 |
7 SubmittersRCV000114023RCV001018542RCV001366157RCV004700328 |
|
NM_000059.4(BRCA2):c.8970G>A (p.Trp2990Ter)
|
SNV Germline |
Chr13:32379766 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025904 |
rs_80359149 |
7 SubmittersRCV000045675RCV000114026RCV000657750RCV000565595 |
|
NM_000059.4(BRCA2):c.8978C>A (p.Ser2993Ter)
|
SNV Germline |
Chr13:32379774 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA025910 |
rs_397508025 |
2 SubmittersRCV000256867 |
|
NM_000059.4(BRCA2):c.8991T>G (p.Tyr2997Ter)
|
SNV Germline |
Chr13:32379787 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Reviewed By Expert Panel |
CA025915 |
rs_397508028 |
8 SubmittersRCV001388610RCV000257890RCV000771470RCV000657636 |
|
NM_000059.4(BRCA2):c.8999T>A (p.Leu3000Ter)
|
SNV Germline |
Chr13:32379795 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025918 |
rs_80359151 |
3 SubmittersRCV000114029RCV001852963 |
|
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp)
|
SNV Germline |
Chr13:32379802 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions |
Criteria Provided Conflicting Classifications |
CA025921 |
rs_80359153 |
10 SubmittersRCV000045686RCV000083151RCV000129004RCV000656809RCV005007980 |
|
NM_000059.4(BRCA2):c.9007G>T (p.Gly3003Ter)
|
SNV Germline |
Chr13:32379803 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA025922 |
rs_397508029 |
2 SubmittersRCV000577209RCV000661574 |
|
NM_000059.4(BRCA2):c.9018C>A (p.Tyr3006Ter)
|
SNV Germline |
Chr13:32379814 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025930 |
rs_80359154 |
8 SubmittersRCV000114031RCV000131053RCV000587546 |
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
SNV Germline |
Chr13:32379828 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Fanconi anemia Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025937 |
rs_80359155 |
13 SubmittersRCV000045694RCV000077458RCV000130329RCV000377237RCV000505780RCV001175463RCV004803927 |
|
NM_000059.4(BRCA2):c.9041C>A (p.Ser3014Ter)
|
SNV Germline |
Chr13:32379837 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025939 |
rs_80359156 |
4 SubmittersRCV000114034RCV005520226 |
|
NM_000059.4(BRCA2):c.905C>G (p.Thr302Ser)
|
SNV Germline |
Chr13:32332383 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025951 |
rs_80359158 |
9 SubmittersRCV000112862RCV000758970RCV000773257RCV001857379 |
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
SNV Germline |
Chr13:32379872 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition not specified Familial cancer of breast BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025961 |
rs_80359159 |
13 SubmittersRCV000045705RCV000114041RCV000129636RCV000520875RCV004803928RCV001171401RCV003460627RCV004724783 |
|
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr)
|
SNV Germline |
Chr13:32379881 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast neoplasm Condition: not provided Malignant tumor of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025965 |
rs_56179254 |
13 SubmittersRCV000114043RCV000129046RCV000413118RCV000587355RCV001353636RCV001083149 |
|
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val)
|
SNV Germline |
Chr13:32379882 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast and/or ovarian cancer Familial cancer of breast BRCA2-related cancer predisposition BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025966 |
rs_80359162 |
16 SubmittersRCV000045708RCV000077459RCV000129861RCV000479673RCV000657008RCV003492370RCV004566857RCV004803929RCV004537211 |
|
NM_000059.4(BRCA2):c.9100C>T (p.Gln3034Ter)
|
SNV Germline |
Chr13:32379896 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast 8 conditions |
Reviewed By Expert Panel |
CA025978 |
rs_80359163 |
10 SubmittersRCV000114047RCV000220911RCV000496303RCV002371870RCV003473428RCV005411311 |
|
NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys)
|
SNV Germline |
Chr13:32379900 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA025981 |
rs_80359165 |
9 SubmittersRCV000045718RCV000114048RCV000222955RCV000203635RCV000759682RCV001354003 |
|
NM_000059.4(BRCA2):c.9109C>T (p.Gln3037Ter)
|
SNV Germline/somatic |
Chr13:32379905 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of urinary bladder Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025985 |
rs_397508037 |
9 SubmittersRCV000083153RCV003332105RCV002371871RCV001270014RCV001358765 |
|
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)
|
SNV Germline |
Chr13:32379912 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA025988 |
rs_80359167 |
22 SubmittersRCV000045720RCV000131718RCV000083154RCV000759684RCV000254649RCV001355960 |
|
NM_000059.4(BRCA2):c.9117+1G>A
|
SNV Germline |
Chr13:32379914 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA025989 |
rs_81002802 |
10 SubmittersRCV000114050RCV000566486RCV003460628RCV001390603RCV000985618 |
|
NM_000059.4(BRCA2):c.9117+1G>T
|
SNV Germline |
Chr13:32379914 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA025990 |
rs_81002802 |
3 SubmittersRCV000114051 |
|
NM_000059.4(BRCA2):c.9117+2T>A
|
SNV Germline |
Chr13:32379915 |
Pathogenic |
Familial cancer of breast Breast and/or ovarian cancer |
No Assertion Criteria Provided |
CA025991 |
rs_397508038 |
2 SubmittersRCV000576934RCV001271064 |
|
NM_000059.4(BRCA2):c.9118-2A>G
|
SNV Germline |
Chr13:32380005 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025996 |
rs_81002862 |
16 SubmittersRCV000077460RCV000496786RCV000212285RCV000771399 |
|
NM_000059.4(BRCA2):c.913G>A (p.Glu305Lys)
|
SNV Germline |
Chr13:32332391 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026002 |
rs_80359169 |
5 SubmittersRCV000112863RCV000581009RCV001300873 |
|
NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter)
|
SNV Germline |
Chr13:32380037 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA026004 |
rs_80359170 |
11 SubmittersRCV000083155RCV000221883RCV000771484RCV001383878 |
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
SNV Germline |
Chr13:32380043 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Breast and/or ovarian cancer BRCA2-related cancer predisposition Malignant tumor of breast |
Reviewed By Expert Panel |
CA026006 |
rs_45580035 |
38 SubmittersRCV000045732RCV000077461RCV000163027RCV000585715RCV000210144RCV000221843RCV000770736RCV004803930RCV001356308 |
|
NM_000059.4(BRCA2):c.9161C>A (p.Pro3054His)
|
SNV Germline |
Chr13:32380050 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026010 |
rs_80359172 |
4 SubmittersRCV000114057RCV002371874RCV003644875 |
|
NM_000059.4(BRCA2):c.9172A>G (p.Ser3058Gly)
|
SNV Germline |
Chr13:32380061 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Conflicting Classifications |
CA026015 |
rs_80359173 |
6 SubmittersRCV000045736RCV000114058RCV001018956RCV004803931RCV003390743 |
|
NM_000059.4(BRCA2):c.9182T>A (p.Leu3061Ter)
|
SNV Germline |
Chr13:32380071 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA026019 |
rs_80359175 |
11 SubmittersRCV000045739RCV000114061RCV000162941RCV000505856RCV003460629 |
|
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn)
|
SNV Germline |
Chr13:32380079 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026023 |
rs_80359177 |
12 SubmittersRCV000077462RCV000130150RCV000590167RCV000440778RCV001083475 |
|
NM_000059.4(BRCA2):c.91T>C (p.Trp31Arg)
|
SNV Germline |
Chr13:32319100 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA026029 |
rs_80359182 |
3 SubmittersRCV000113123RCV005251052RCV001378307 |
|
NM_000059.4(BRCA2):c.9207T>A (p.Cys3069Ter)
|
SNV Germline |
Chr13:32380096 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA026033 |
rs_80359183 |
5 SubmittersRCV000114065RCV004018939RCV002514215 |
|
NM_000059.4(BRCA2):c.9213G>T (p.Glu3071Asp)
|
SNV Germline |
Chr13:32380102 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA026035 |
rs_80359184 |
6 SubmittersRCV000114066RCV001309238RCV001719799RCV001019007 |
|
NM_000059.4(BRCA2):c.9215T>A (p.Val3072Glu)
|
SNV Germline |
Chr13:32380104 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA026036 |
rs_80359185 |
4 SubmittersRCV000114067RCV000481070RCV000781100RCV001019008 |
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
SNV Germline |
Chr13:32380107 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified 8 conditions Fanconi anemia complementation group D1 |
Criteria Provided Conflicting Classifications |
CA026037 |
rs_80359186 |
10 SubmittersRCV000045750RCV000077464RCV000130237RCV000656811RCV000326170RCV000765143RCV001114168 |
|
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu)
|
SNV Germline |
Chr13:32380116 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 |
Criteria Provided Multiple Submitters No Conflicts |
CA026040 |
rs_80359187 |
10 SubmittersRCV000114069RCV000216816RCV000221088RCV001290187RCV004760360 |
|
NM_000059.4(BRCA2):c.9247A>T (p.Lys3083Ter)
|
SNV Germline |
Chr13:32380136 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA026049 |
rs_80359190 |
4 SubmittersRCV000256545RCV001019066RCV001380998 |
|
NM_000059.4(BRCA2):c.9249A>T (p.Lys3083Asn)
|
SNV Germline |
Chr13:32380138 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related cancer predisposition Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026050 |
rs_80359191 |
11 SubmittersRCV000045758RCV000114073RCV000131342RCV000212287RCV000759688RCV004803933RCV004566858 |
|
NM_000059.4(BRCA2):c.9256+1G>A
|
SNV Germline |
Chr13:32380146 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA026057 |
rs_81002883 |
7 SubmittersRCV000114075RCV001019075RCV001381000RCV004732635RCV004721255 |
|
NM_000059.4(BRCA2):c.9256G>T (p.Gly3086Ter)
|
SNV Germline |
Chr13:32380145 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA026059 |
rs_80359192 |
3 SubmittersRCV000114076 |
|
NM_000059.4(BRCA2):c.9257-1G>A
|
SNV Germline |
Chr13:32394688 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA026064 |
rs_81002889 |
6 SubmittersRCV000164703RCV001376859RCV002472948RCV003229804 |
|
NM_000059.4(BRCA2):c.9257-1G>C
|
SNV Germline |
Chr13:32394688 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA026065 |
rs_81002889 |
13 SubmittersRCV000045767RCV000083156RCV000212288RCV000131040RCV004803934RCV003473430 |
|
NM_000059.4(BRCA2):c.9263C>T (p.Ala3088Val)
|
SNV Germline |
Chr13:32394695 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026073 |
rs_80359193 |
3 SubmittersRCV000114083RCV002371876RCV001346740 |
|
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)
|
SNV Germline |
Chr13:32394703 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA026076 |
rs_80359194 |
14 SubmittersRCV000045772RCV000083157RCV000167774RCV000165867RCV000985621RCV004803935RCV005234955 |
|
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)
|
SNV Germline |
Chr13:32394707 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026081 |
rs_80359195 |
18 SubmittersRCV000077466RCV000131684RCV000424310RCV000586462RCV000735623RCV001084297RCV004537212 |
|
NM_000059.4(BRCA2):c.9276T>G (p.Tyr3092Ter)
|
SNV Germline |
Chr13:32394708 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA026083 |
rs_80359197 |
7 SubmittersRCV000114085RCV001381498RCV002371877 |
|
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)
|
SNV Germline |
Chr13:32394717 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Multiple Submitters No Conflicts |
CA026086 |
rs_80359198 |
13 SubmittersRCV000045779RCV000077467RCV000223197RCV000236007RCV003473431RCV004803936 |
|
NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter)
|
SNV Germline |
Chr13:32394718 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA026089 |
rs_80359199 |
6 SubmittersRCV000114086RCV001310190RCV002371878RCV001388804 |
|
NM_000059.4(BRCA2):c.9291T>A (p.Cys3097Ter)
|
SNV Germline |
Chr13:32394723 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA026091 |
rs_397508044 |
4 SubmittersRCV000577676RCV000661690RCV003476936RCV002514216 |
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
SNV Germline |
Chr13:32319101 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome 8 conditions Familial cancer of breast Familial pancreatic carcinoma Condition: not provided |
Reviewed By Expert Panel |
CA026096 |
rs_397508045 |
11 SubmittersRCV000045785RCV000241373RCV001179124RCV000762913RCV003460630RCV005357367RCV003133125 |
|
NM_000059.4(BRCA2):c.9301C>G (p.Leu3101Val)
|
SNV Germline |
Chr13:32394733 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026097 |
rs_80359202 |
5 SubmittersRCV000114087RCV000509687RCV001297255RCV003460631 |
|
NM_000059.4(BRCA2):c.9307A>G (p.Ile3103Val)
|
SNV Germline |
Chr13:32394739 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026099 |
rs_80359203 |
8 SubmittersRCV000077468RCV000162720RCV001753460RCV001295985RCV004803937 |
|
NM_000059.4(BRCA2):c.9309A>G (p.Ile3103Met)
|
SNV Germline |
Chr13:32394741 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026101 |
rs_80359204 |
4 SubmittersRCV000114088RCV000509809RCV001365159 |
|
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter)
|
SNV Germline |
Chr13:32394749 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Breast carcinoma Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA026103 |
rs_80359205 |
9 SubmittersRCV000496936RCV000114090RCV000585639RCV001646927RCV001019163 |
|
NM_000059.4(BRCA2):c.9331G>T (p.Glu3111Ter)
|
SNV Germline |
Chr13:32394763 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA026106 |
rs_397508047 |
8 SubmittersRCV000130826RCV000212289RCV000241167RCV001385101 |
|
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)
|
SNV Germline |
Chr13:32394776 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA026108 |
rs_276174923 |
14 SubmittersRCV000045795RCV000114092RCV000223579RCV000985625RCV001171420RCV004803938RCV005357368 |
|
NM_000059.4(BRCA2):c.9350A>C (p.His3117Pro)
|
SNV Germline |
Chr13:32394782 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026109 |
rs_80359206 |
4 SubmittersRCV000114093RCV001019198RCV001315069 |
|
NM_000059.4(BRCA2):c.9356T>G (p.Leu3119Ter)
|
SNV Germline |
Chr13:32394788 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA026114 |
rs_80359207 |
6 SubmittersRCV000114094RCV003473432RCV002513649RCV002371880 |
|
NM_000059.4(BRCA2):c.9367A>G (p.Ser3123Gly)
|
SNV Germline |
Chr13:32394799 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026117 |
rs_80359208 |
4 SubmittersRCV000114097RCV000165396RCV000212290RCV001338774 |
|
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His)
|
SNV Germline |
Chr13:32394806 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026120 |
rs_80359209 |
5 SubmittersRCV000114098RCV003584524RCV001290188 |
|
NM_000059.4(BRCA2):c.9376C>T (p.Gln3126Ter)
|
SNV Germline |
Chr13:32394808 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA026122 |
rs_80359210 |
9 SubmittersRCV000045805RCV000114100RCV001267994RCV000576119 |
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
SNV Germline |
Chr13:32394814 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast neoplasm 8 conditions Breast and/or ovarian cancer Familial cancer of breast BRCA2-related disorder BRCA2-related cancer predisposition NICE approved PARP inhibitor treatment Gastric cancer 8 conditions |
Reviewed By Expert Panel |
CA026127 |
rs_80359212 |
52 SubmittersRCV000045807RCV000077469RCV000131048RCV000160169RCV000240732RCV000763332RCV000735625RCV000474912RCV001849300RCV004803939RCV004782034RCV003162394RCV005007981 |
|
NM_000059.4(BRCA2):c.93G>A (p.Trp31Ter)
|
SNV Germline |
Chr13:32319102 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA026138 |
rs_80359214 |
6 SubmittersRCV000045810RCV000256653RCV005520227 |
|
NM_000059.4(BRCA2):c.93G>T (p.Trp31Cys)
|
SNV Germline |
Chr13:32319102 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA026140 |
rs_80359214 |
3 SubmittersRCV000045811RCV000113126RCV000565952 |
|
NM_000059.4(BRCA2):c.9425A>G (p.Asp3142Gly)
|
SNV Germline |
Chr13:32394857 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026149 |
rs_80359216 |
11 SubmittersRCV000083159RCV000213617RCV000509927RCV000657021RCV001295496RCV004803941 |
|
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys)
|
SNV Germline |
Chr13:32394886 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026162 |
rs_80359218 |
12 SubmittersRCV000045822RCV000077471RCV000167823RCV000165404RCV001081057 |
|
NM_000059.4(BRCA2):c.9455A>G (p.Glu3152Gly)
|
SNV Germline |
Chr13:32394887 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026164 |
rs_80359219 |
8 SubmittersRCV000045823RCV000114109RCV000214951RCV000483186RCV000779965RCV004803942 |
|
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)
|
SNV Germline |
Chr13:32394890 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA026167 |
rs_80359220 |
13 SubmittersRCV000045825RCV000114111RCV000163366RCV000588545RCV001818224 |
|
NM_000059.4(BRCA2):c.9466C>T (p.Gln3156Ter)
|
SNV Germline |
Chr13:32394898 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA026170 |
rs_276174925 |
2 SubmittersRCV000114113 |
|
NM_000059.4(BRCA2):c.9477C>A (p.Phe3159Leu)
|
SNV Germline |
Chr13:32394909 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA026174 |
rs_80359221 |
8 SubmittersRCV000045831RCV000114116RCV000221995RCV000985628RCV002281735 |
|
NM_000059.4(BRCA2):c.9481A>T (p.Lys3161Ter)
|
SNV Germline |
Chr13:32394913 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Reviewed By Expert Panel |
CA026175 |
rs_80359222 |
10 SubmittersRCV000114117RCV000414553RCV000496504RCV003584525RCV003476939 |
|
NM_000059.4(BRCA2):c.9501+1G>A
|
SNV Germline |
Chr13:32394934 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA026182 |
rs_397508058 |
8 SubmittersRCV000258387RCV000585647RCV001092812RCV001189741RCV001852966 |
|
NM_000059.4(BRCA2):c.9501+4A>G
|
SNV Germline |
Chr13:32394937 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related disorder Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA026184 |
rs_81002848 |
13 SubmittersRCV000045839RCV000114121RCV000129324RCV000441376RCV001284453RCV004542710RCV005357369 |
|
NM_000059.4(BRCA2):c.9501G>A (p.Glu3167=)
|
SNV Unknown |
Chr13:32394933 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
No Assertion Criteria Provided |
CA026186 |
rs_80359808 |
1 SubmittersRCV000114122 |
|
NM_000059.4(BRCA2):c.9502-28A>G
|
SNV Germline |
Chr13:32396870 |
Likely pathogenic |
Familial cancer of breast 8 conditions |
Criteria Provided Single Submitter |
CA026189 |
rs_397508059 |
2 SubmittersRCV000577189RCV005394275 |
|
NM_000059.4(BRCA2):c.9502-2A>C
|
SNV Germline |
Chr13:32396896 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA026190 |
rs_81002868 |
8 SubmittersRCV000114124RCV000131049RCV000507477RCV001387733RCV004566859 |
|
NM_000059.4(BRCA2):c.952A>T (p.Lys318Ter)
|
SNV Germline |
Chr13:32332430 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA026200 |
rs_397508060 |
5 SubmittersRCV000241210RCV005305957 |
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
SNV Germline |
Chr13:32396934 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions Condition: not provided Ovarian cancer Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA026202 |
rs_200598289 |
12 SubmittersRCV000077472RCV000165783RCV001318855RCV000765145RCV000482475RCV003153338RCV003492371 |
|
NM_000059.4(BRCA2):c.9542T>G (p.Met3181Arg)
|
SNV Germline |
Chr13:32396938 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026206 |
rs_80359225 |
8 SubmittersRCV000045853RCV000114131RCV000219030RCV000590128RCV000855634RCV004803943RCV003473435 |
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
SNV Germline |
Chr13:32332434 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026215 |
rs_55939572 |
15 SubmittersRCV000045856RCV000083161RCV000128972RCV000587951RCV001109313RCV000735630RCV001080083 |
|
NM_000059.4(BRCA2):c.9572G>A (p.Trp3191Ter)
|
SNV Germline |
Chr13:32396968 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA026216 |
rs_397508063 |
4 SubmittersRCV000257532RCV000496523 |
|
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala)
|
SNV Germline |
Chr13:32396979 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA026222 |
rs_80359227 |
12 SubmittersRCV000045861RCV000083162RCV000129471RCV000427171RCV001705703RCV005357370 |
|
NM_000059.4(BRCA2):c.9610A>G (p.Thr3204Ala)
|
SNV Germline |
Chr13:32397006 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA026232 |
rs_80359231 |
8 SubmittersRCV000045865RCV000114133RCV000213913RCV003460632RCV001353605 |
|
NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter)
|
SNV Germline |
Chr13:32332439 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA026238 |
rs_80359234 |
11 SubmittersRCV000112867RCV000657627RCV000496598RCV000217571RCV003460634 |
|
NM_000059.4(BRCA2):c.9637A>G (p.Asn3213Asp)
|
SNV Germline |
Chr13:32397033 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026242 |
rs_80359235 |
8 SubmittersRCV000045871RCV000114138RCV000129983RCV001778689RCV001852967RCV004803945 |
|
NM_000059.4(BRCA2):c.9648+10T>G
|
SNV Germline |
Chr13:32397054 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026247 |
rs_81002835 |
6 SubmittersRCV000114141RCV000588518RCV001087714RCV003460635 |
|
NM_000059.4(BRCA2):c.9649-2A>G
|
SNV Germline |
Chr13:32398160 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA026253 |
rs_81002895 |
3 SubmittersRCV000114145RCV004018940RCV005089427 |
|
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)
|
SNV Germline |
Chr13:32398190 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026266 |
rs_80359237 |
13 SubmittersRCV000045885RCV000114153RCV000165822RCV000369165RCV001175465RCV003473437RCV004537214 |
|
NM_000059.4(BRCA2):c.9690A>T (p.Leu3230Phe)
|
SNV Germline |
Chr13:32398203 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026269 |
rs_80359238 |
9 SubmittersRCV000045886RCV000114154RCV000131275RCV000508027RCV003155054RCV005357371RCV004803947 |
|
NM_000059.4(BRCA2):c.9718G>A (p.Val3240Ile)
|
SNV Germline |
Chr13:32398231 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA026279 |
rs_80359240 |
8 SubmittersRCV000045890RCV000165570RCV000114156RCV000479353RCV000587392 |
|
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)
|
SNV Germline |
Chr13:32398283 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA026294 |
rs_55847618 |
17 SubmittersRCV000077474RCV000129187RCV001082226RCV000586082RCV004537216RCV001818225 |
|
NM_000059.4(BRCA2):c.979A>G (p.Lys327Glu)
|
SNV Germline |
Chr13:32332457 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA026298 |
rs_80359242 |
4 SubmittersRCV000112869RCV001301981RCV002381338 |
|
NM_000059.4(BRCA2):c.97G>T (p.Glu33Ter)
|
SNV Germline |
Chr13:32319106 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA026299 |
rs_397508065 |
3 SubmittersRCV000256555RCV002514219 |
|
NM_000059.4(BRCA2):c.9820T>G (p.Leu3274Val)
|
SNV Germline |
Chr13:32398333 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026305 |
rs_80359244 |
9 SubmittersRCV000112814RCV000276881RCV000222518RCV003460637RCV001345970RCV004803949 |
|
NM_000059.4(BRCA2):c.9838C>T (p.Pro3280Ser)
|
SNV Germline |
Chr13:32398351 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial pancreatic carcinoma not specified |
Criteria Provided Conflicting Classifications |
CA026310 |
rs_55835607 |
9 SubmittersRCV000045903RCV000077476RCV000509955RCV000487013RCV005357372RCV001193233 |
|
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His)
|
SNV Germline |
Chr13:32398352 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA026311 |
rs_80359246 |
13 SubmittersRCV000045904RCV000077477RCV000130774RCV000430520RCV001703949RCV001798244 |
|
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)
|
SNV Germline/somatic |
Chr13:32398396 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA026321 |
rs_80359247 |
11 SubmittersRCV000238720RCV000112819RCV001184567RCV003332106RCV003473438RCV000496879 |
|
NM_000059.4(BRCA2):c.9905G>A (p.Arg3302Lys)
|
SNV Germline |
Chr13:32398418 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026326 |
rs_80359249 |
12 SubmittersRCV000083164RCV000509696RCV000588627RCV001309231RCV003321492RCV004537217 |
|
NM_000059.4(BRCA2):c.9907A>T (p.Ser3303Cys)
|
SNV Germline |
Chr13:32398420 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026328 |
rs_276174930 |
8 SubmittersRCV000112821RCV000167325RCV000454487RCV001302458RCV004803950RCV004732636 |
|
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
|
SNV Germline |
Chr13:32398437 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Condition: not provided Malignant tumor of breast Familial cancer of breast Inherited breast cancer and ovarian cancer |
Reviewed By Expert Panel |
CA026332 |
rs_4987049 |
17 SubmittersRCV000045914RCV000077479RCV000131045RCV000768644RCV000221171RCV001354074RCV003460638RCV005237474 |
|
NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys)
|
SNV Germline |
Chr13:32398438 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026334 |
rs_80359251 |
15 SubmittersRCV000112824RCV000130750RCV000120378RCV000195387RCV001080047RCV005234956RCV004537218 |
|
NM_000059.4(BRCA2):c.992A>T (p.Lys331Ile)
|
SNV Germline |
Chr13:32332470 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA026336 |
rs_80359253 |
6 SubmittersRCV000045918RCV000112870RCV003157318 |
|
NM_000059.4(BRCA2):c.9936A>G (p.Ile3312Met)
|
SNV Germline |
Chr13:32398449 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026338 |
rs_80359255 |
6 SubmittersRCV000112826RCV000165864RCV000781148RCV003149697RCV001364239 |
|
NM_000059.4(BRCA2):c.9952A>C (p.Asn3318His)
|
SNV Germline |
Chr13:32398465 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026346 |
rs_80359256 |
8 SubmittersRCV000438846RCV000083165RCV000165163RCV000985255RCV001363034RCV001535553 |
|
NM_000059.4(BRCA2):c.1325C>A (p.Ser442Ter)
|
SNV Germline |
Chr13:32332803 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA011601 |
rs_80358421 |
3 SubmittersRCV000257449RCV001853033 |
|
NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His)
|
SNV Germline |
Chr13:32340316 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023423 |
rs_387907575 |
8 SubmittersRCV000049344RCV000779990RCV000480427RCV000561617RCV000637728 |
|
NM_000059.4(BRCA2):c.10087A>G (p.Ile3363Val)
|
SNV Germline |
Chr13:32398600 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA010181 |
rs_55881945 |
8 SubmittersRCV000074508RCV000132086RCV000206119RCV000662584RCV000985457 |
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
SNV Germline |
Chr13:32332574 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified BRCA2-related cancer predisposition Condition: not provided Hereditary breast ovarian cancer syndrome Hepatoblastoma |
Criteria Provided Conflicting Classifications |
CA010792 |
rs_587779357 |
14 SubmittersRCV000077249RCV000166352RCV000074510RCV005357437RCV000586794RCV001087766RCV001843473 |
|
NM_000059.4(BRCA2):c.1874T>G (p.Phe625Cys)
|
SNV Germline |
Chr13:32333352 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013677 |
rs_587779359 |
3 SubmittersRCV000772731RCV000693983 |
|
NM_000059.4(BRCA2):c.2332G>A (p.Val778Ile)
|
SNV Germline |
Chr13:32336687 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA014983 |
rs_587779360 |
10 SubmittersRCV000077276RCV000129872RCV000230477RCV000587254 |
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
SNV Germline |
Chr13:32338533 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA019676 |
rs_398122776 |
12 SubmittersRCV000074528RCV000410711RCV000165267RCV000472348RCV001703970RCV001358513 |
|
NM_000059.4(BRCA2):c.6688A>G (p.Ile2230Val)
|
SNV Germline |
Chr13:32341043 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA024294 |
rs_587779366 |
8 SubmittersRCV000130830RCV000474506RCV000586574RCV003997059 |
|
NM_000059.4(BRCA2):c.9286G>A (p.Glu3096Lys)
|
SNV Germline |
Chr13:32394718 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026088 |
rs_80359199 |
6 SubmittersRCV000074561RCV000527692RCV000580932RCV004566914 |
|
NM_000059.4(BRCA2):c.5244C>A (p.Ser1748Arg)
|
SNV Germline |
Chr13:32339599 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021843 |
rs_398122528 |
9 SubmittersRCV000076926RCV000160084RCV000569062RCV000656796RCV000528928 |
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
SNV Germline |
Chr13:32339633 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA021926 |
rs_28897735 |
12 SubmittersRCV000076927RCV000131676RCV000440605RCV000476848RCV000985542RCV001353578 |
|
NM_000059.4(BRCA2):c.5438T>C (p.Leu1813Pro)
|
SNV Germline |
Chr13:32339793 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA022330 |
rs_398122532 |
8 SubmittersRCV000076931RCV000160090RCV001192447RCV000810148RCV001024101RCV004804046 |
|
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr)
|
SNV Germline |
Chr13:32339850 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA022441 |
rs_138489917 |
11 SubmittersRCV000076932RCV000132060RCV000160229RCV000588125RCV001079414RCV001353390 |
|
NM_000059.4(BRCA2):c.5518G>C (p.Gly1840Arg)
|
SNV Germline |
Chr13:32339873 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA022489 |
rs_398122533 |
7 SubmittersRCV000076933RCV000464863RCV000478840RCV000510044 |
|
NM_000059.4(BRCA2):c.5539G>A (p.Ala1847Thr)
|
SNV Germline |
Chr13:32339894 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022516 |
rs_398122534 |
4 SubmittersRCV000076934RCV002345388RCV002513807 |
|
NM_000059.4(BRCA2):c.5636A>G (p.Glu1879Gly)
|
SNV Germline |
Chr13:32339991 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA022789 |
rs_398122536 |
9 SubmittersRCV000076936RCV000200011RCV000219353RCV000571155RCV001193954 |
|
NM_000059.4(BRCA2):c.5649A>C (p.Lys1883Asn)
|
SNV Germline |
Chr13:32340004 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Malignant tumor of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA022832 |
rs_80358787 |
11 SubmittersRCV000076938RCV000131541RCV000502274RCV000637343RCV001353577RCV001582563 |
|
NM_000059.4(BRCA2):c.5650A>G (p.Ile1884Val)
|
SNV Germline |
Chr13:32340005 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022846 |
rs_398122538 |
6 SubmittersRCV000076939RCV000132469RCV000474428 |
|
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala)
|
SNV Germline |
Chr13:32340168 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA023264 |
rs_41293499 |
13 SubmittersRCV000076942RCV000129261RCV000168583RCV000257904RCV000657051RCV001798275RCV004732647 |
|
NM_000059.4(BRCA2):c.5893C>T (p.Leu1965Phe)
|
SNV Germline |
Chr13:32340248 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023343 |
rs_398122542 |
12 SubmittersRCV000076944RCV000215394RCV000637433RCV000657041RCV003155065RCV004732648RCV004804047 |
|
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile)
|
SNV Germline |
Chr13:32340276 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023368 |
rs_55730620 |
11 SubmittersRCV000076945RCV000166046RCV000231524RCV000436824RCV001697138 |
|
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)
|
SNV Germline |
Chr13:32340317 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA023425 |
rs_28897739 |
5 SubmittersRCV000076947RCV000477598RCV000567451RCV000763891 |
|
NM_000059.4(BRCA2):c.5969A>C (p.Asp1990Ala)
|
SNV Germline |
Chr13:32340324 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023434 |
rs_148618542 |
8 SubmittersRCV000076948RCV000223167RCV000160188RCV000589650RCV000460454 |
|
NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser)
|
SNV Germline |
Chr13:32316519 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023490 |
rs_398122544 |
8 SubmittersRCV000076950RCV000690786RCV000574036RCV000758917RCV003460721RCV004804048 |
|
NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn)
|
SNV Germline |
Chr13:32326590 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Condition: not provided Familial colorectal cancer type X |
Criteria Provided Conflicting Classifications |
CA023638 |
rs_398122547 |
8 SubmittersRCV000076954RCV000471187RCV000509879RCV001113535RCV000758918RCV005357503 |
|
NM_000059.4(BRCA2):c.6098T>A (p.Ile2033Lys)
|
SNV Germline |
Chr13:32340453 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023648 |
rs_398122548 |
7 SubmittersRCV000076955RCV000217624RCV000469876RCV001526977RCV004760369 |
|
NM_000059.4(BRCA2):c.6152A>G (p.Asn2051Ser)
|
SNV Germline |
Chr13:32340507 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023700 |
rs_398122549 |
8 SubmittersRCV000076956RCV000203759RCV000222229RCV005623289 |
|
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn)
|
SNV Germline |
Chr13:32340580 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA023772 |
rs_80358863 |
11 SubmittersRCV000076957RCV000255403RCV000130739RCV000558324RCV001194389 |
|
NM_000059.4(BRCA2):c.6271A>C (p.Ser2091Arg)
|
SNV Germline |
Chr13:32340626 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA023804 |
rs_398122550 |
10 SubmittersRCV000076958RCV000129368RCV000438559RCV000227893RCV000985562RCV004691747 |
|
NM_000059.4(BRCA2):c.6295A>G (p.Arg2099Gly)
|
SNV Germline |
Chr13:32340650 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA023833 |
rs_398122551 |
10 SubmittersRCV000076959RCV000222158RCV000695728RCV001199915RCV001800378RCV004528279 |
|
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu)
|
SNV Germline |
Chr13:32340678 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023908 |
rs_35029074 |
10 SubmittersRCV000076961RCV000168279RCV000213911RCV000423308RCV001703980 |
|
NM_000059.4(BRCA2):c.6383A>C (p.Lys2128Thr)
|
SNV Germline |
Chr13:32340738 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023967 |
rs_398122554 |
6 SubmittersRCV000076963RCV000772760RCV002477220RCV002513808 |
|
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu)
|
SNV Germline |
Chr13:32340830 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA024092 |
rs_398122558 |
10 SubmittersRCV000076967RCV000160111RCV000166819RCV000588031RCV001083727RCV004732649 |
|
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)
|
SNV Germline |
Chr13:32340842 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA024103 |
rs_398122559 |
10 SubmittersRCV000076968RCV000483318RCV000579895RCV003460722RCV001192504 |
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
SNV Germline |
Chr13:32340895 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024153 |
rs_398122560 |
12 SubmittersRCV000076969RCV000160235RCV000131800RCV000234409RCV001109883RCV003477474 |
|
NM_000059.4(BRCA2):c.6586A>T (p.Lys2196Ter)
|
SNV Germline |
Chr13:32340941 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA024190 |
rs_398122561 |
3 SubmittersRCV000076970RCV003529979 |
|
NM_000059.4(BRCA2):c.6806T>C (p.Ile2269Thr)
|
SNV Germline |
Chr13:32341161 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA024420 |
rs_398122564 |
9 SubmittersRCV000076973RCV000230132RCV000568704RCV001555262RCV001527034 |
|
NM_000059.4(BRCA2):c.681+1G>A
|
SNV Germline |
Chr13:32329493 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Inherited ovarian cancer (without breast cancer) Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024428 |
rs_398122565 |
11 SubmittersRCV001190683RCV003474659RCV000076974RCV003137616RCV005252733RCV000496457 |
|
NM_000059.4(BRCA2):c.6863A>T (p.Asn2288Ile)
|
SNV Germline |
Chr13:32344579 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA024525 |
rs_398122569 |
6 SubmittersRCV000076979RCV000132443RCV000821916RCV005229884RCV003460723 |
|
NM_000059.4(BRCA2):c.694T>C (p.Tyr232His)
|
SNV Germline |
Chr13:32330931 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA024616 |
rs_398122572 |
9 SubmittersRCV000129345RCV000637516RCV004804049RCV000076982RCV003230397RCV000590532RCV003460724 |
|
NM_000059.4(BRCA2):c.6971A>G (p.His2324Arg)
|
SNV Germline |
Chr13:32346860 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA024657 |
rs_398122574 |
5 SubmittersRCV000076984RCV000197341RCV001025862 |
|
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys)
|
SNV Germline |
Chr13:32354874 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer not specified Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024759 |
rs_41293505 |
12 SubmittersRCV000076986RCV000130453RCV000160126RCV000227614RCV000735598RCV000781128RCV004566938RCV004804050 |
|
NM_000059.4(BRCA2):c.709G>A (p.Asp237Asn)
|
SNV Germline |
Chr13:32330946 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024869 |
rs_398122575 |
9 SubmittersRCV000076987RCV000562449RCV000709294RCV003317080RCV004804051 |
|
NM_000059.4(BRCA2):c.7222C>T (p.Pro2408Ser)
|
SNV Germline |
Chr13:32355075 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024971 |
rs_398122577 |
9 SubmittersRCV000076989RCV000214648RCV000697809RCV001588900RCV004732650RCV002288577RCV004804052 |
|
NM_000059.4(BRCA2):c.7354A>G (p.Asn2452Asp)
|
SNV Germline |
Chr13:32355207 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025040 |
rs_398122580 |
7 SubmittersRCV000076992RCV000213983RCV000587585RCV000685760RCV005237515 |
|
NM_000059.4(BRCA2):c.7355A>G (p.Asn2452Ser)
|
SNV Germline |
Chr13:32355208 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025041 |
rs_398122581 |
4 SubmittersRCV000076993RCV000572915RCV001230752RCV002509201 |
|
NM_000059.4(BRCA2):c.7436-10T>C
|
SNV Germline |
Chr13:32356418 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA025081 |
rs_398122582 |
8 SubmittersRCV000076995RCV000470480RCV000608246RCV001190657RCV001284107RCV003149760 |
|
NM_000059.4(BRCA2):c.7436-9C>A
|
SNV Germline |
Chr13:32356419 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025088 |
rs_398122584 |
4 SubmittersRCV000076997RCV001360239RCV001525255 |
|
NM_000059.4(BRCA2):c.7585G>A (p.Gly2529Ser)
|
SNV Germline |
Chr13:32356577 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Familial cancer of breast Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025163 |
rs_398122585 |
11 SubmittersRCV000218797RCV000637466RCV000780001RCV000077000RCV001550351RCV003460725RCV005357504 |
|
NM_000059.4(BRCA2):c.7616A>G (p.Gln2539Arg)
|
SNV Germline |
Chr13:32356608 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025181 |
rs_144728108 |
9 SubmittersRCV000077002RCV000195784RCV003321499RCV005357505RCV000509684RCV004696691 |
|
NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe)
|
SNV Germline |
Chr13:32357761 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025205 |
rs_398122586 |
10 SubmittersRCV000077003RCV000130695RCV000199472RCV000256073RCV000781115RCV003474660 |
|
NM_000059.4(BRCA2):c.7648A>G (p.Ile2550Val)
|
SNV Germline |
Chr13:32357772 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025211 |
rs_41293507 |
5 SubmittersRCV000077004RCV000559770RCV000776374RCV003128579 |
|
NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln)
|
SNV Germline |
Chr13:32357775 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025213 |
rs_398122587 |
10 SubmittersRCV000077005RCV000132265RCV000160246RCV000476389RCV000589630RCV005357506RCV004804053RCV003607231 |
|
NM_000059.4(BRCA2):c.7733G>A (p.Gly2578Glu)
|
SNV Germline |
Chr13:32357857 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025249 |
rs_398122590 |
3 SubmittersRCV000077008RCV000217106RCV000122931 |
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
SNV Germline |
Chr13:32357910 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025274 |
rs_398122591 |
11 SubmittersRCV000077009RCV000160142RCV000197789RCV000509715RCV000770731RCV003460727 |
|
NM_000059.4(BRCA2):c.7819A>G (p.Thr2607Ala)
|
SNV Germline |
Chr13:32362536 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025299 |
rs_80359008 |
4 SubmittersRCV000077011RCV000566070RCV002514363RCV003474661 |
|
NM_000059.4(BRCA2):c.7928C>T (p.Ala2643Val)
|
SNV Germline |
Chr13:32362645 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025339 |
rs_80359018 |
10 SubmittersRCV000077015RCV000589932RCV000575971RCV000548871RCV004804055 |
|
NM_000059.4(BRCA2):c.8078T>A (p.Ile2693Lys)
|
SNV Germline |
Chr13:32363280 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025441 |
rs_398122595 |
3 SubmittersRCV000077017RCV001027143RCV001314689 |
|
NM_000059.4(BRCA2):c.8125A>G (p.Ser2709Gly)
|
SNV Germline |
Chr13:32363327 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer not specified BRCA2-related disorder Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025463 |
rs_398122596 |
9 SubmittersRCV000077018RCV000198708RCV000235393RCV000768638RCV000779969RCV004537300RCV000569993 |
|
NM_000059.4(BRCA2):c.8128A>G (p.Ser2710Gly)
|
SNV Germline |
Chr13:32363330 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025464 |
rs_398122597 |
8 SubmittersRCV000077019RCV000219126RCV000474416RCV000656623 |
|
NM_000059.4(BRCA2):c.814A>G (p.Asn272Asp)
|
SNV Germline |
Chr13:32332292 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025472 |
rs_398122598 |
6 SubmittersRCV000077020RCV000486677RCV000529674RCV000774908 |
|
NM_000059.4(BRCA2):c.8285C>T (p.Pro2762Leu)
|
SNV Germline |
Chr13:32363487 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025549 |
rs_398122600 |
3 SubmittersRCV000129761RCV000077022RCV005089525 |
|
NC_000013.11:g.32363535T>A
|
SNV Germline |
Chr13:32363535 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA025580 |
rs_398122602 |
2 SubmittersRCV000077024RCV004017387 |
|
NM_000059.4(BRCA2):c.8366A>G (p.Tyr2789Cys)
|
SNV Germline |
Chr13:32370436 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA025606 |
rs_398122603 |
10 SubmittersRCV000206251RCV000077025RCV000214265RCV004804056RCV001800379RCV001553615 |
|
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser)
|
SNV Germline |
Chr13:32370456 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025620 |
rs_146120136 |
12 SubmittersRCV000077028RCV000130261RCV000226735RCV000586491RCV000735611RCV005357508 |
|
NM_000059.4(BRCA2):c.8405C>G (p.Pro2802Arg)
|
SNV Germline |
Chr13:32370475 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025628 |
rs_398122606 |
3 SubmittersRCV000077030RCV003343631RCV003529980 |
|
NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter)
|
SNV Germline |
Chr13:32371049 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Familial colorectal cancer type X |
Reviewed By Expert Panel |
CA025722 |
rs_398122608 |
12 SubmittersRCV000077032RCV000130528RCV000657687RCV000699930RCV003460729RCV005357509 |
|
NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter)
|
SNV Germline |
Chr13:32380016 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA026001 |
rs_398122610 |
11 SubmittersRCV000077034RCV000130444RCV001380996RCV001557541 |
|
NM_000059.4(BRCA2):c.9205T>G (p.Cys3069Gly)
|
SNV Germline |
Chr13:32380094 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA026031 |
rs_398122611 |
6 SubmittersRCV000077035RCV000167063RCV000700869RCV002465509 |
|
NM_000059.4(BRCA2):c.9257-8C>T
|
SNV Germline |
Chr13:32394681 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA026068 |
rs_11571819 |
12 SubmittersRCV000077038RCV000759690RCV000780036RCV001088131RCV000773110RCV005394333RCV003492429 |
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
SNV Germline |
Chr13:32394707 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition Familial cancer of breast 8 conditions |
Criteria Provided Conflicting Classifications |
CA026082 |
rs_80359195 |
11 SubmittersRCV000167271RCV000560384RCV000483136RCV000767170RCV000077039RCV004804057RCV003474663RCV002490671 |
|
NM_000059.4(BRCA2):c.9391T>C (p.Ser3131Pro)
|
SNV Germline |
Chr13:32394823 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast BRCA2-related disorder 8 conditions Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA026134 |
rs_398122613 |
12 SubmittersRCV000506488RCV001219085RCV002466422RCV000077041RCV000218620RCV004566939RCV004732651RCV005007989RCV005357510 |
|
NM_000059.4(BRCA2):c.9407T>C (p.Leu3136Pro)
|
SNV Germline |
Chr13:32394839 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA026144 |
rs_398122614 |
5 SubmittersRCV000077042RCV000637816RCV001019282 |
|
NM_000059.4(BRCA2):c.9496G>A (p.Val3166Ile)
|
SNV Germline |
Chr13:32394928 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026177 |
rs_398122615 |
8 SubmittersRCV000077043RCV000131348RCV000543406RCV000985629RCV004804058 |
|
NM_000059.4(BRCA2):c.9573G>A (p.Trp3191Ter)
|
SNV Germline |
Chr13:32396969 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA026218 |
rs_398122617 |
4 SubmittersRCV000077046RCV000509925RCV001854349 |
|
NM_000059.4(BRCA2):c.968T>G (p.Val323Gly)
|
SNV Germline |
Chr13:32332446 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA026268 |
rs_398122619 |
3 SubmittersRCV000077048RCV000509917 |
|
NM_000059.4(BRCA2):c.9698G>A (p.Cys3233Tyr)
|
SNV Germline |
Chr13:32398211 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA026271 |
rs_398122620 |
8 SubmittersRCV000077049RCV000509832RCV001041364RCV001284598 |
|
NM_000059.4(BRCA2):c.9857T>A (p.Ile3286Asn)
|
SNV Germline |
Chr13:32398370 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026315 |
rs_398122624 |
6 SubmittersRCV000077053RCV000215513RCV000164700RCV000537252RCV003460730 |
|
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)
|
SNV Germline |
Chr13:32371100 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA025745 |
rs_398122710 |
6 SubmittersRCV000077638RCV000240702RCV000131955RCV001340616RCV002250555 |
|
NM_000059.4(BRCA2):c.8633-1G>A
|
SNV Germline |
Chr13:32376669 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA025747 |
rs_398122711 |
8 SubmittersRCV000077639RCV000698187RCV001770075RCV002371922RCV003460731 |
|
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)
|
SNV Germline |
Chr13:32376736 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025785 |
rs_398122712 |
13 SubmittersRCV000077641RCV000564657RCV001001011RCV001005030RCV000534579RCV004804067 |
|
NM_000059.4(BRCA2):c.8755-19A>G
|
SNV Germline |
Chr13:32379298 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025811 |
rs_398122713 |
9 SubmittersRCV000077642RCV000122936RCV000160155RCV000776372RCV001199407 |
|
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)
|
SNV Germline |
Chr13:32379369 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025831 |
rs_398122714 |
14 SubmittersRCV000077643RCV000132403RCV000160158RCV000198146RCV000587247RCV003460732RCV004528280RCV004804068 |
|
NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter)
|
SNV Germline |
Chr13:32379401 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA025846 |
rs_398122715 |
10 SubmittersRCV000198305RCV000077644RCV000579572RCV000759681RCV003474664 |
|
NM_000059.4(BRCA2):c.8933C>G (p.Ser2978Ter)
|
SNV Germline |
Chr13:32379495 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025878 |
rs_80359144 |
3 SubmittersRCV000077645RCV001387963 |
|
NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly)
|
SNV Germline |
Chr13:32379504 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025881 |
rs_398122716 |
10 SubmittersRCV000077646RCV000510052RCV001087133RCV002469007RCV003460733RCV004804069RCV000586974 |
|
NM_000059.4(BRCA2):c.8958A>G (p.Ile2986Met)
|
SNV Germline |
Chr13:32379754 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025900 |
rs_398122719 |
5 SubmittersRCV000218696RCV000077649RCV003764752 |
|
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala)
|
SNV Germline |
Chr13:32398753 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA010554 |
rs_80358405 |
11 SubmittersRCV000077652RCV000129127RCV000160262RCV000458506RCV000985459 |
|
NM_000059.4(BRCA2):c.1066T>A (p.Ser356Thr)
|
SNV Germline |
Chr13:32332544 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA010729 |
rs_398122722 |
4 SubmittersRCV000077654RCV001193842RCV001342021RCV003157399 |
|
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val)
|
SNV Germline |
Chr13:32319125 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA011036 |
rs_398122724 |
12 SubmittersRCV000077656RCV000160132RCV000545014RCV000130510RCV002267845 |
|
NM_000059.4(BRCA2):c.1261C>G (p.Gln421Glu)
|
SNV Germline |
Chr13:32332739 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011373 |
rs_80358419 |
6 SubmittersRCV000077657RCV000223427RCV001363119 |
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
SNV Germline |
Chr13:32332782 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions BRCA2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA011523 |
rs_398122725 |
11 SubmittersRCV000077658RCV000218740RCV000704661RCV001010872RCV002490672RCV004732652RCV004767062 |
|
NM_000059.4(BRCA2):c.1405G>C (p.Asp469His)
|
SNV Germline |
Chr13:32332883 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA011938 |
rs_398122727 |
4 SubmittersRCV000077660RCV000820306RCV002390231 |
|
NM_000059.4(BRCA2):c.1642C>T (p.Gln548Ter)
|
SNV Germline |
Chr13:32333120 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA012735 |
rs_398122729 |
8 SubmittersRCV000077662RCV000130404RCV000823651RCV001800382 |
|
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys)
|
SNV Germline |
Chr13:32319181 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA013007 |
rs_397507603 |
11 SubmittersRCV000077663RCV000195636RCV000216277RCV000985468RCV001824599RCV004566942RCV004804070 |
|
NM_000059.4(BRCA2):c.1733G>A (p.Gly578Asp)
|
SNV Germline |
Chr13:32333211 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA013024 |
rs_398122730 |
6 SubmittersRCV000166334RCV000077664RCV001854359RCV004804071 |
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
SNV Germline |
Chr13:32333240 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Malignant tumor of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA013120 |
rs_398122731 |
15 SubmittersRCV000077665RCV000163030RCV000160207RCV000531905RCV001109420RCV001353480RCV001703984 |
|
NM_000059.4(BRCA2):c.1805G>T (p.Gly602Val)
|
SNV Germline |
Chr13:32333283 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA013348 |
rs_398122732 |
10 SubmittersRCV000077666RCV000572020RCV000758866RCV000824255RCV001194415RCV004804072 |
|
NM_000059.4(BRCA2):c.1814T>C (p.Ile605Thr)
|
SNV Germline |
Chr13:32333292 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA013415 |
rs_80358468 |
12 SubmittersRCV000077667RCV000165793RCV000588653RCV001082118RCV003488376RCV004804073 |
|
NM_000059.4(BRCA2):c.1819A>T (p.Lys607Ter)
|
SNV Germline |
Chr13:32333297 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Reviewed By Expert Panel |
CA013458 |
rs_80358471 |
8 SubmittersRCV000077668RCV000496499RCV002408604RCV004696693 |
|
NM_000059.4(BRCA2):c.1885C>T (p.Leu629Phe)
|
SNV Germline |
Chr13:32333363 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA013724 |
rs_398122734 |
7 SubmittersRCV000077670RCV000130468RCV000637481RCV000479487RCV004782048 |
|
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter)
|
SNV Germline |
Chr13:32336300 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA014000 |
rs_398122735 |
13 SubmittersRCV000077672RCV000496928RCV000772116RCV001262845RCV005357516 |
|
NM_000059.4(BRCA2):c.1966A>G (p.Thr656Ala)
|
SNV Germline |
Chr13:32336321 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA014049 |
rs_398122736 |
8 SubmittersRCV000077673RCV000216699RCV000637334RCV001566524RCV001175561 |
|
NM_000059.4(BRCA2):c.2044A>T (p.Ile682Phe)
|
SNV Germline |
Chr13:32336399 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA014207 |
rs_398122738 |
7 SubmittersRCV000164636RCV000077675RCV000695727 |
|
NM_000059.4(BRCA2):c.2045T>C (p.Ile682Thr)
|
SNV Germline |
Chr13:32336400 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA014216 |
rs_398122739 |
6 SubmittersRCV000077676RCV000525381RCV000770714RCV002415572 |
|
NM_000059.4(BRCA2):c.2047T>C (p.Ser683Pro)
|
SNV Germline |
Chr13:32336402 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA014223 |
rs_398122740 |
4 SubmittersRCV000077677RCV001854360RCV002415573 |
|
NM_000059.4(BRCA2):c.217C>T (p.Gln73Ter)
|
SNV Germline |
Chr13:32319226 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA014544 |
rs_398122741 |
6 SubmittersRCV000077678RCV002515748RCV002426640 |
|
NM_000059.4(BRCA2):c.2214T>A (p.Cys738Ter)
|
SNV Germline |
Chr13:32336569 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided 8 conditions |
Reviewed By Expert Panel |
CA014637 |
rs_398122742 |
9 SubmittersRCV000077679RCV000581800RCV000693161RCV001588902RCV005007990 |
|
NM_000059.4(BRCA2):c.2252C>T (p.Thr751Ile)
|
SNV Germline |
Chr13:32336607 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA014749 |
rs_398122743 |
8 SubmittersRCV000077680RCV000165229RCV000704300RCV004597740 |
|
NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser)
|
SNV Germline |
Chr13:32319241 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA014957 |
rs_398122745 |
7 SubmittersRCV000077682RCV000162666RCV000637740RCV003460735 |
|
NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter)
|
SNV Germline |
Chr13:32336723 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA015053 |
rs_398122746 |
13 SubmittersRCV000077684RCV000507480RCV000657661RCV001015304RCV003460736 |
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
SNV Germline |
Chr13:32337012 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA015957 |
rs_80358526 |
8 SubmittersRCV000131954RCV000077690RCV002483128RCV001299353RCV001800383 |
|
NM_000059.4(BRCA2):c.2676C>A (p.Phe892Leu)
|
SNV Germline |
Chr13:32337031 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA016006 |
rs_398122751 |
4 SubmittersRCV000077691RCV002426641 |
|
NM_000059.4(BRCA2):c.2758C>T (p.Pro920Ser)
|
SNV Germline |
Chr13:32337113 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA016284 |
rs_397507293 |
5 SubmittersRCV000077693RCV001016515RCV000122904RCV002250556 |
|
NM_000059.4(BRCA2):c.2822T>G (p.Val941Gly)
|
SNV Germline |
Chr13:32337177 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA016510 |
rs_398122754 |
7 SubmittersRCV000077696RCV000509894RCV000692302RCV002260606RCV004804075 |
|
NM_000059.4(BRCA2):c.2835A>C (p.Lys945Asn)
|
SNV Germline |
Chr13:32337190 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016551 |
rs_398122755 |
6 SubmittersRCV000213415RCV000077697RCV000459511 |
|
NM_000059.4(BRCA2):c.2924T>G (p.Ile975Ser)
|
SNV Germline |
Chr13:32337279 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016800 |
rs_398122756 |
5 SubmittersRCV000077698RCV000561550RCV001854361 |
|
NM_000059.4(BRCA2):c.2942A>G (p.Lys981Arg)
|
SNV Germline |
Chr13:32337297 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA016842 |
rs_398122757 |
5 SubmittersRCV000077699RCV000700243RCV002433582RCV003155066 |
|
NM_000059.4(BRCA2):c.2981C>T (p.Ala994Val)
|
SNV Germline |
Chr13:32337336 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA016957 |
rs_398122758 |
6 SubmittersRCV000122905RCV000165816RCV000077701RCV000160052 |
|
NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly)
|
SNV Germline |
Chr13:32337365 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA017037 |
rs_398122759 |
9 SubmittersRCV000077702RCV000232614RCV000565814RCV001811354RCV005357517 |
|
NM_000059.4(BRCA2):c.3302A>G (p.His1101Arg)
|
SNV Germline |
Chr13:32337657 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA017748 |
rs_398122761 |
14 SubmittersRCV000077704RCV000129726RCV000196747RCV000483080RCV000657002RCV005357518 |
|
NM_000059.4(BRCA2):c.3407T>C (p.Ile1136Thr)
|
SNV Germline |
Chr13:32337762 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA017957 |
rs_398122765 |
7 SubmittersRCV000077708RCV001217071RCV001020224RCV005357519RCV004537302 |
|
NM_000059.4(BRCA2):c.3414G>C (p.Gln1138His)
|
SNV Germline |
Chr13:32337769 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA017972 |
rs_398122766 |
7 SubmittersRCV000077709RCV001020235RCV001217072RCV004537303RCV005364973 |
|
NM_000059.4(BRCA2):c.3518T>C (p.Ile1173Thr)
|
SNV Germline |
Chr13:32337873 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA018250 |
rs_398122767 |
5 SubmittersRCV000130564RCV000077710RCV000697710 |
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
SNV Germline |
Chr13:32325111 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast neoplasm not specified Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA018264 |
rs_375125172 |
15 SubmittersRCV000077711RCV000129600RCV000240706RCV000160016RCV000168454RCV000590557RCV003474666 |
|
NM_000059.4(BRCA2):c.3668A>G (p.His1223Arg)
|
SNV Germline |
Chr13:32338023 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA018509 |
rs_398122768 |
6 SubmittersRCV000077712RCV000800645RCV001562627RCV002453393RCV003321501 |
|
NM_000059.4(BRCA2):c.3709G>C (p.Ala1237Pro)
|
SNV Germline |
Chr13:32338064 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA018619 |
rs_398122770 |
10 SubmittersRCV000077714RCV000205458RCV000776156RCV000759605RCV001818243 |
|
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser)
|
SNV Germline |
Chr13:32338304 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA019259 |
rs_398122773 |
9 SubmittersRCV000077718RCV000229385RCV000509876RCV001355525RCV001804830RCV003736569 |
|
NM_000059.4(BRCA2):c.3995A>G (p.His1332Arg)
|
SNV Germline |
Chr13:32338350 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019343 |
rs_398122774 |
5 SubmittersRCV000077719RCV000165461RCV000545850 |
|
NM_000059.4(BRCA2):c.4178C>G (p.Ala1393Gly)
|
SNV Germline |
Chr13:32338533 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019671 |
rs_398122776 |
5 SubmittersRCV000077722RCV000164308RCV000637643 |
|
NM_000059.4(BRCA2):c.426-2A>G
|
SNV Germline |
Chr13:32326099 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA019852 |
rs_398122779 |
8 SubmittersRCV000077725RCV000160018RCV000503210RCV001353493RCV002326793RCV003460738 |
|
NM_000059.4(BRCA2):c.4274A>G (p.Asp1425Gly)
|
SNV Germline |
Chr13:32338629 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA019888 |
rs_398122780 |
9 SubmittersRCV000077726RCV000471950RCV000772745RCV000985520RCV001193119 |
|
NM_000059.4(BRCA2):c.4294A>G (p.Ser1432Gly)
|
SNV Germline |
Chr13:32338649 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019930 |
rs_398122781 |
4 SubmittersRCV000077727RCV002326794RCV003644900 |
|
NM_000059.4(BRCA2):c.4325C>G (p.Ser1442Ter)
|
SNV Germline |
Chr13:32338680 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA019993 |
rs_80358670 |
7 SubmittersRCV000077728RCV000160186RCV000570068RCV001854362 |
|
NM_000059.4(BRCA2):c.4477G>C (p.Glu1493Gln)
|
SNV Germline |
Chr13:32338832 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020254 |
rs_398122782 |
4 SubmittersRCV000077729RCV000459380RCV003157400 |
|
NM_000059.4(BRCA2):c.4739G>A (p.Cys1580Tyr)
|
SNV Germline |
Chr13:32339094 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020733 |
rs_398122784 |
4 SubmittersRCV000077732RCV001346041RCV001762202RCV003157401 |
|
NM_000059.4(BRCA2):c.4847T>G (p.Leu1616Ter)
|
SNV Germline |
Chr13:32339202 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA020903 |
rs_398122786 |
4 SubmittersRCV000077734RCV002336230RCV002514364 |
|
NM_000059.4(BRCA2):c.489T>G (p.Ser163Arg)
|
SNV Germline |
Chr13:32326255 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA020981 |
rs_398122787 |
8 SubmittersRCV000077735RCV000205650RCV000506258RCV001023225RCV003477481RCV004566943 |
|
NM_000059.4(BRCA2):c.4906A>G (p.Lys1636Glu)
|
SNV Germline |
Chr13:32339261 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast neoplasm Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020993 |
rs_398122788 |
7 SubmittersRCV000077737RCV000166671RCV000231152RCV000240716RCV000758900 |
|
NM_000059.4(BRCA2):c.5054C>A (p.Ser1685Ter)
|
SNV Germline |
Chr13:32339409 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA021187 |
rs_398122791 |
7 SubmittersRCV000077740RCV000255153RCV001186723RCV000802160 |
|
NM_000059.4(BRCA2):c.5125G>T (p.Asp1709Tyr)
|
SNV Germline |
Chr13:32339480 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions not specified |
Criteria Provided Conflicting Classifications |
CA021330 |
rs_398122792 |
14 SubmittersRCV000758905RCV000077741RCV000213126RCV000206087RCV005007991RCV002228188 |
|
NM_000059.4(BRCA2):c.5155A>T (p.Asn1719Tyr)
|
SNV Germline |
Chr13:32339510 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021407 |
rs_398122794 |
5 SubmittersRCV000077743RCV000580987RCV001854363 |
|
NM_000059.4(BRCA2):c.-3A>G
|
SNV Germline |
Chr13:32316458 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA019351 |
rs_431825277 |
3 SubmittersRCV000082879RCV000122896RCV000772642 |
|
NM_000059.4(BRCA2):c.10162A>G (p.Thr3388Ala)
|
SNV Germline |
Chr13:32398675 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA010402 |
rs_431825278 |
5 SubmittersRCV000082880RCV000587975RCV001804835RCV001443475 |
|
NM_000059.4(BRCA2):c.10166C>T (p.Ser3389Phe)
|
SNV Germline |
Chr13:32398679 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA010411 |
rs_431825279 |
5 SubmittersRCV000082881RCV000220925RCV000637504RCV001575168RCV001280645 |
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
SNV Germline |
Chr13:32332624 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA010939 |
rs_431825280 |
9 SubmittersRCV000082882RCV000130529RCV000486000RCV001036707RCV002498436 |
|
NM_000059.4(BRCA2):c.1421T>C (p.Leu474Pro)
|
SNV Germline |
Chr13:32332899 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA011989 |
rs_431825281 |
4 SubmittersRCV000082884RCV000122899RCV001011512 |
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
SNV Germline |
Chr13:32332911 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA012027 |
rs_431825282 |
6 SubmittersRCV000559197RCV000772727RCV000763880RCV000082885 |
|
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg)
|
SNV Germline |
Chr13:32333046 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Malignant tumor of pancreas Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast neoplasm Familial cancer of breast Malignant tumor of breast Ovarian cancer |
Criteria Provided Conflicting Classifications |
CA012439 |
rs_80358443 |
16 SubmittersRCV000082887RCV000160205RCV000590104RCV000677856RCV000132044RCV001088277RCV000240762RCV002250558RCV001353673RCV003153359 |
|
NM_000059.4(BRCA2):c.1709A>G (p.Asn570Ser)
|
SNV Germline |
Chr13:32333187 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA012963 |
rs_431825284 |
9 SubmittersRCV000082889RCV000767150RCV000637388RCV001012835 |
|
NM_000059.4(BRCA2):c.1755G>T (p.Lys585Asn)
|
SNV Germline |
Chr13:32333233 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA013093 |
rs_431825285 |
3 SubmittersRCV000082890RCV002408611 |
|
NM_000059.4(BRCA2):c.1777G>T (p.Ala593Ser)
|
SNV Germline |
Chr13:32333255 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA013186 |
rs_431825286 |
6 SubmittersRCV000082891RCV000637708RCV000562320RCV004595916 |
|
NM_000059.4(BRCA2):c.1780A>C (p.Ile594Leu)
|
SNV Germline |
Chr13:32333258 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013194 |
rs_431825287 |
8 SubmittersRCV000082892RCV000167234RCV000219220RCV001219311 |
|
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter)
|
SNV Germline |
Chr13:32333385 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA013790 |
rs_431825288 |
7 SubmittersRCV000082893RCV000526079RCV001725966RCV002408612RCV003460757 |
|
NM_000059.4(BRCA2):c.2071G>A (p.Ala691Thr)
|
SNV Germline |
Chr13:32336426 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA014272 |
rs_431825290 |
6 SubmittersRCV000082895RCV000565909RCV004804078RCV001854444 |
|
NM_000059.4(BRCA2):c.2086G>A (p.Glu696Lys)
|
SNV Germline |
Chr13:32336441 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA014291 |
rs_431825291 |
5 SubmittersRCV000082896RCV001176132RCV001364606 |
|
NM_000059.4(BRCA2):c.2098T>A (p.Leu700Ile)
|
SNV Germline |
Chr13:32336453 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA014347 |
rs_431825293 |
5 SubmittersRCV000082898RCV000204537RCV000776355 |
|
NM_000059.4(BRCA2):c.2173A>G (p.Lys725Glu)
|
SNV Germline |
Chr13:32336528 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA014510 |
rs_431825294 |
6 SubmittersRCV000082899RCV000814350RCV002426648RCV001175563 |
|
NM_000059.4(BRCA2):c.2185A>G (p.Ile729Val)
|
SNV Germline |
Chr13:32336540 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA014554 |
rs_431825295 |
5 SubmittersRCV000082900RCV000219501RCV001226249 |
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
SNV Germline |
Chr13:32336541 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast neoplasm Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 not specified Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Ovarian cancer |
Criteria Provided Conflicting Classifications |
CA014563 |
rs_431825296 |
14 SubmittersRCV000166578RCV000240800RCV005357528RCV000758870RCV000763882RCV000082901RCV002298468RCV001112184RCV000637814RCV000677830 |
|
NM_000059.4(BRCA2):c.2398G>A (p.Gly800Ser)
|
SNV Germline |
Chr13:32336753 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA015119 |
rs_431825297 |
4 SubmittersRCV000082902RCV001214081RCV002444552 |
|
NM_000059.4(BRCA2):c.2789A>G (p.Tyr930Cys)
|
SNV Germline |
Chr13:32337144 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA016368 |
rs_431825299 |
4 SubmittersRCV000082904RCV000555804RCV000573307 |
|
NM_000059.4(BRCA2):c.3167A>G (p.Gln1056Arg)
|
SNV Germline |
Chr13:32337522 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA017412 |
rs_431825301 |
7 SubmittersRCV000082906RCV000218077RCV000780000RCV000705390RCV000486491RCV004804080 |
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
SNV Germline |
Chr13:32337528 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA017465 |
rs_431825302 |
13 SubmittersRCV000082907RCV000173966RCV000565270RCV000724725RCV001084692 |
|
NM_000059.4(BRCA2):c.3194T>C (p.Ile1065Thr)
|
SNV Germline |
Chr13:32337549 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA017501 |
rs_431825303 |
9 SubmittersRCV000082908RCV000132329RCV000168025RCV001284559RCV004804081 |
|
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)
|
SNV Germline |
Chr13:32337581 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA017586 |
rs_431825304 |
13 SubmittersRCV000222899RCV002247480RCV000082909RCV000588617RCV000799401RCV001113630RCV004732659 |
|
NM_000059.4(BRCA2):c.3434C>T (p.Pro1145Leu)
|
SNV Germline |
Chr13:32337789 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA018004 |
rs_431825306 |
3 SubmittersRCV000082911RCV002453412 |
|
NM_000059.4(BRCA2):c.3477C>A (p.Cys1159Ter)
|
SNV Germline |
Chr13:32337832 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA018138 |
rs_431825307 |
5 SubmittersRCV000082912RCV000479600RCV002453413 |
|
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys)
|
SNV Germline |
Chr13:32337834 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA018145 |
rs_183920365 |
12 SubmittersRCV000082913RCV000210809RCV000459507RCV000521196RCV000780007 |
|
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe)
|
SNV Germline |
Chr13:32337872 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Chordoma 8 conditions not specified |
Criteria Provided Conflicting Classifications |
CA018244 |
rs_431825308 |
11 SubmittersRCV000082914RCV000637509RCV000562261RCV001582574RCV002266922RCV005007998RCV003321502 |
|
NM_000059.4(BRCA2):c.3551G>C (p.Gly1184Ala)
|
SNV Germline |
Chr13:32337906 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA018307 |
rs_431825309 |
5 SubmittersRCV000082915RCV000166576RCV001857399 |
|
NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val)
|
SNV Germline |
Chr13:32337933 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA018374 |
rs_431825310 |
9 SubmittersRCV000082916RCV000812976RCV000216169RCV001357751RCV000429172 |
|
NM_000059.4(BRCA2):c.3700C>A (p.Leu1234Met)
|
SNV Germline |
Chr13:32338055 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA018608 |
rs_431825311 |
6 SubmittersRCV000082918RCV000570982RCV000759604RCV000809862 |
|
NM_000059.4(BRCA2):c.3939C>G (p.Tyr1313Ter)
|
SNV Germline |
Chr13:32338294 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA019246 |
rs_80358641 |
7 SubmittersRCV000082922RCV000567978RCV000520208RCV001388924 |
|
NM_000059.4(BRCA2):c.4157A>T (p.Asp1386Val)
|
SNV Germline |
Chr13:32338512 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA019633 |
rs_431825316 |
6 SubmittersRCV000082924RCV001021967RCV001854445RCV004804082 |
|
NM_000059.4(BRCA2):c.4159T>A (p.Leu1387Ile)
|
SNV Germline |
Chr13:32338514 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition not specified |
Criteria Provided Conflicting Classifications |
CA019635 |
rs_431825317 |
9 SubmittersRCV000082925RCV000637472RCV000164638RCV004998218RCV004804083RCV005417456 |
|
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)
|
SNV Germline |
Chr13:32338538 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA019684 |
rs_431825318 |
13 SubmittersRCV000082926RCV000165596RCV000478490RCV000546266RCV000766618RCV003330428RCV004804084 |
|
NM_000059.4(BRCA2):c.4354C>G (p.Gln1452Glu)
|
SNV Germline |
Chr13:32338709 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA020031 |
rs_431825319 |
7 SubmittersRCV000082927RCV000213089RCV001051329RCV003398686 |
|
NM_000059.4(BRCA2):c.4423A>G (p.Met1475Val)
|
SNV Germline |
Chr13:32338778 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020166 |
rs_431825320 |
4 SubmittersRCV000082928RCV000701791RCV000566502 |
|
NM_000059.4(BRCA2):c.4713G>C (p.Glu1571Asp)
|
SNV Germline |
Chr13:32339068 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020702 |
rs_431825322 |
5 SubmittersRCV000082930RCV001022942 |
|
NM_000059.4(BRCA2):c.4747A>T (p.Ile1583Phe)
|
SNV Germline |
Chr13:32339102 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA020749 |
rs_56072130 |
7 SubmittersRCV000082931RCV000130034RCV001283924RCV000702595RCV003987358 |
|
NM_000059.4(BRCA2):c.4975T>G (p.Ser1659Ala)
|
SNV Germline |
Chr13:32339330 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA021085 |
rs_431825324 |
7 SubmittersRCV000082933RCV000215418RCV000545723RCV001775581 |
|
NM_000059.4(BRCA2):c.5239A>G (p.Asn1747Asp)
|
SNV Germline |
Chr13:32339594 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021837 |
rs_431825328 |
6 SubmittersRCV000082939RCV000581287RCV001857401 |
|
NM_000059.4(BRCA2):c.5335G>A (p.Val1779Ile)
|
SNV Germline |
Chr13:32339690 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA022034 |
rs_431825329 |
9 SubmittersRCV000082940RCV000486253RCV000231399RCV001193174RCV000561227RCV005357530 |
|
NM_000059.4(BRCA2):c.5467A>G (p.Lys1823Glu)
|
SNV Germline |
Chr13:32339822 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA022382 |
rs_276174858 |
3 SubmittersRCV000082942RCV003157402 |
|
NM_000059.4(BRCA2):c.5578A>T (p.Lys1860Ter)
|
SNV Germline |
Chr13:32339933 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA022617 |
rs_431825332 |
5 SubmittersRCV000082944RCV000164633RCV000637590RCV001800390 |
|
NM_000059.4(BRCA2):c.5707A>C (p.Ile1903Leu)
|
SNV Germline |
Chr13:32340062 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023020 |
rs_431825333 |
4 SubmittersRCV000082945RCV000562326RCV001854446 |
|
NM_000059.4(BRCA2):c.5714A>T (p.His1905Leu)
|
SNV Germline |
Chr13:32340069 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023034 |
rs_80358796 |
6 SubmittersRCV000082946RCV000571260RCV000160097RCV001202227 |
|
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile)
|
SNV Germline |
Chr13:32340084 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023080 |
rs_276174863 |
11 SubmittersRCV000082947RCV000132401RCV000457400RCV004804085RCV001283930 |
|
NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly)
|
SNV Germline |
Chr13:32340092 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA023107 |
rs_80358799 |
12 SubmittersRCV000082948RCV000130867RCV000168581RCV000257905RCV000588195RCV003149769RCV005357531 |
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
SNV Germline |
Chr13:32340102 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023149 |
rs_431825334 |
11 SubmittersRCV000082949RCV000160100RCV000214692RCV000702374RCV000763890RCV000779974RCV004804086 |
|
NM_000059.4(BRCA2):c.5784A>C (p.Glu1928Asp)
|
SNV Germline |
Chr13:32340139 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023225 |
rs_431825335 |
7 SubmittersRCV000082950RCV000122919RCV000523964RCV000580238 |
|
NM_000059.4(BRCA2):c.5846A>G (p.Asp1949Gly)
|
SNV Germline |
Chr13:32340201 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023295 |
rs_431825336 |
7 SubmittersRCV000082951RCV001024593RCV000461990RCV003322751 |
|
NM_000059.4(BRCA2):c.5855T>G (p.Leu1952Trp)
|
SNV Germline |
Chr13:32340210 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023308 |
rs_375064902 |
5 SubmittersRCV000082952RCV001854447RCV002354286 |
|
NM_000059.4(BRCA2):c.6080G>A (p.Arg2027Lys)
|
SNV Germline |
Chr13:32340435 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA023625 |
rs_431825337 |
9 SubmittersRCV000082953RCV000160107RCV000772758RCV000794485RCV000780019 |
|
NM_000059.4(BRCA2):c.6118A>G (p.Ile2040Val)
|
SNV Germline |
Chr13:32340473 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023670 |
rs_80358850 |
7 SubmittersRCV000082954RCV000165889RCV000416535 |
|
NM_000059.4(BRCA2):c.631+7A>G
|
SNV Germline |
Chr13:32326620 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA023865 |
rs_431825339 |
9 SubmittersRCV000082956RCV000477537RCV000499706RCV001182329RCV001353791RCV003607235 |
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
SNV Germline |
Chr13:32340981 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions not specified |
Criteria Provided Conflicting Classifications |
CA024222 |
rs_431825344 |
9 SubmittersRCV000082961RCV000119208RCV000217422RCV000763894RCV001844033 |
|
NM_000059.4(BRCA2):c.6679G>A (p.Ala2227Thr)
|
SNV Germline |
Chr13:32341034 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA024283 |
rs_431825345 |
5 SubmittersRCV000082962RCV000538858RCV001025522RCV003226193 |
|
NM_000059.4(BRCA2):c.6837A>T (p.Leu2279Phe)
|
SNV Germline |
Chr13:32341192 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024480 |
rs_431825346 |
5 SubmittersRCV000082963RCV000132289RCV000694161 |
|
NM_000059.4(BRCA2):c.6959T>A (p.Leu2320Ter)
|
SNV Germline |
Chr13:32346848 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA024636 |
rs_80358923 |
8 SubmittersRCV000082965RCV000216188RCV000509686RCV000637789 |
|
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys)
|
SNV Germline |
Chr13:32346895 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast and/or ovarian cancer Ovarian cancer BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA024698 |
rs_431825347 |
14 SubmittersRCV000082966RCV000132214RCV000476201RCV000588307RCV000855635RCV001798283RCV003153360RCV004732660 |
|
NM_000059.4(BRCA2):c.7178T>C (p.Met2393Thr)
|
SNV Germline |
Chr13:32355031 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA024926 |
rs_431825351 |
7 SubmittersRCV000082970RCV000131350RCV000697572RCV000985576RCV005237523 |
|
NM_000059.4(BRCA2):c.7331A>G (p.Asp2444Gly)
|
SNV Germline |
Chr13:32355184 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025032 |
rs_431825352 |
5 SubmittersRCV000082971RCV000166106RCV000481679RCV001857402 |
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
SNV Germline |
Chr13:32357749 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 9 conditions Condition: not provided not specified Familial cancer of breast BRCA2-related cancer predisposition Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA025196 |
rs_80358989 |
13 SubmittersRCV000082975RCV000132470RCV000197583RCV000515343RCV000589734RCV001844034RCV004566974RCV004804089RCV004700399 |
|
NM_000059.4(BRCA2):c.7811T>C (p.Leu2604Pro)
|
SNV Germline |
Chr13:32362528 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025295 |
rs_431825357 |
6 SubmittersRCV000082980RCV000165518RCV000755223RCV003644903 |
|
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys)
|
SNV Germline |
Chr13:32362588 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025315 |
rs_431825358 |
14 SubmittersRCV000082981RCV000216510RCV000657061RCV000479795RCV000257979RCV001170972RCV004566975 |
|
NM_000059.4(BRCA2):c.7897G>T (p.Ala2633Ser)
|
SNV Germline |
Chr13:32362614 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025325 |
rs_431825359 |
5 SubmittersRCV000082982RCV000703286RCV001026920RCV004668774RCV004804092 |
|
NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp)
|
SNV Germline |
Chr13:32362647 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025340 |
rs_431825360 |
9 SubmittersRCV000082983RCV000213312RCV000218919RCV000808327RCV001194436 |
|
NM_000059.4(BRCA2):c.7985C>A (p.Thr2662Lys)
|
SNV Germline |
Chr13:32363187 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA025382 |
rs_431825362 |
13 SubmittersRCV000129687RCV000196144RCV000210092RCV000082985RCV000587063RCV001357871 |
|
NM_000059.4(BRCA2):c.8282C>G (p.Ser2761Cys)
|
SNV Germline |
Chr13:32363484 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025548 |
rs_431825363 |
4 SubmittersRCV000082986RCV000222731RCV003764772 |
|
NM_000059.4(BRCA2):c.836G>T (p.Cys279Phe)
|
SNV Germline |
Chr13:32332314 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025609 |
rs_431825364 |
4 SubmittersRCV000082987RCV000223335RCV001202842 |
|
NM_000059.4(BRCA2):c.8632+1G>T
|
SNV Germline |
Chr13:32371101 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA025741 |
rs_397507997 |
3 SubmittersRCV000082991 |
|
NM_000059.4(BRCA2):c.8714A>G (p.Tyr2905Cys)
|
SNV Germline |
Chr13:32376751 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025791 |
rs_431825368 |
6 SubmittersRCV000082992RCV000479199RCV000460625RCV000584302RCV004804093 |
|
NM_000059.4(BRCA2):c.8755-17A>G
|
SNV Germline |
Chr13:32379300 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025810 |
rs_431825370 |
5 SubmittersRCV000082994RCV000580630RCV000900795RCV000779976 |
|
NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter)
|
SNV Germline |
Chr13:32379399 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA025845 |
rs_431825371 |
9 SubmittersRCV000082995RCV000471016RCV000164349RCV000508358RCV000657681RCV004804094 |
|
NM_000059.4(BRCA2):c.8957T>C (p.Ile2986Thr)
|
SNV Germline |
Chr13:32379753 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025899 |
rs_431825372 |
6 SubmittersRCV000082996RCV001227408RCV001525932RCV001280628 |
|
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly)
|
SNV Germline |
Chr13:32379848 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025943 |
rs_431825373 |
6 SubmittersRCV000082998RCV000132352RCV000483142RCV000703275RCV003474688 |
|
NM_000059.4(BRCA2):c.905C>A (p.Thr302Asn)
|
SNV Germline |
Chr13:32332383 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025950 |
rs_80359158 |
7 SubmittersRCV000082999RCV000197152RCV000564157RCV000758969 |
|
NM_000059.4(BRCA2):c.9098C>T (p.Thr3033Ile)
|
SNV Germline |
Chr13:32379894 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025974 |
rs_431825374 |
9 SubmittersRCV000083000RCV000166290RCV000269121RCV000689164RCV001824601 |
|
NM_000059.4(BRCA2):c.9256+10A>G
|
SNV Germline |
Chr13:32380155 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026055 |
rs_431825375 |
3 SubmittersRCV000083001RCV001798284RCV002055239 |
|
NM_000059.4(BRCA2):c.9256+1G>C
|
SNV Germline |
Chr13:32380146 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA026058 |
rs_81002883 |
7 SubmittersRCV000083002RCV001051718RCV002255284 |
|
NM_000059.4(BRCA2):c.9458G>T (p.Gly3153Val)
|
SNV Germline |
Chr13:32394890 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026168 |
rs_80359220 |
8 SubmittersRCV000166183RCV000234502RCV002267847RCV003237440RCV000083003RCV003460761 |
|
NM_000059.4(BRCA2):c.9547A>G (p.Ile3183Val)
|
SNV Germline |
Chr13:32396943 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026207 |
rs_377123889 |
7 SubmittersRCV000083004RCV000129405RCV000585947RCV000637985RCV004804095 |
|
NM_000059.4(BRCA2):c.9584C>T (p.Thr3195Ile)
|
SNV Germline |
Chr13:32396980 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA026223 |
rs_431825376 |
5 SubmittersRCV000083005RCV001050514RCV000583198 |
|
NM_000059.4(BRCA2):c.9647T>C (p.Leu3216Pro)
|
SNV Germline |
Chr13:32397043 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026245 |
rs_431825377 |
6 SubmittersRCV000083006RCV000460198RCV000164007RCV004998220RCV004804096 |
|
NM_000059.4(BRCA2):c.9651G>A (p.Met3217Ile)
|
SNV Germline |
Chr13:32398164 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA026259 |
rs_431825379 |
5 SubmittersRCV000083008RCV000468886RCV000582783RCV002281917 |
|
NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp)
|
SNV Germline |
Chr13:32398334 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA026306 |
rs_431825380 |
9 SubmittersRCV000083010RCV000131538RCV000477120RCV000590068RCV003460762RCV005055573 |
|
NM_000059.4(BRCA2):c.1401G>C (p.Lys467Asn)
|
SNV Germline |
Chr13:32332879 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA011917 |
rs_276174808 |
6 SubmittersRCV000112917RCV000545323RCV000587440RCV001188331 |
|
NM_000059.4(BRCA2):c.1504A>C (p.Lys502Gln)
|
SNV Germline |
Chr13:32332982 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012258 |
rs_276174809 |
7 SubmittersRCV000112928RCV000223354RCV000160038RCV000637723 |
|
NM_000059.4(BRCA2):c.-14T>C
|
SNV Germline |
Chr13:32316447 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012248 |
rs_276174796 |
5 SubmittersRCV000112995RCV000773254RCV000437674RCV001456348 |
|
NM_000059.4(BRCA2):c.-12T>C
|
SNV Germline |
Chr13:32316449 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011494 |
rs_276174795 |
5 SubmittersRCV000112999RCV000586575RCV000776392RCV001089418 |
|
NM_000059.4(BRCA2):c.2629C>G (p.Pro877Ala)
|
SNV Germline |
Chr13:32336984 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA015892 |
rs_80358524 |
9 SubmittersRCV000113071RCV000483653RCV000556749RCV000570550RCV000780044 |
|
NM_000059.4(BRCA2):c.2836G>C (p.Asp946His)
|
SNV Germline |
Chr13:32337191 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016576 |
rs_80358534 |
7 SubmittersRCV000113100RCV000222307RCV000586610RCV000637635 |
|
NM_000059.4(BRCA2):c.2957A>T (p.Asn986Ile)
|
SNV Germline |
Chr13:32337312 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016904 |
rs_28897718 |
6 SubmittersRCV000113120RCV000566118RCV000679164RCV000703734 |
|
NM_000059.4(BRCA2):c.2978G>A (p.Trp993Ter)
|
SNV Germline |
Chr13:32337333 |
Pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA016937 |
rs_80358543 |
11 SubmittersRCV000485157RCV000637724RCV000113124RCV001849311RCV001184520RCV003460790 |
|
NM_000059.4(BRCA2):c.3362C>A (p.Ser1121Ter)
|
SNV Germline |
Chr13:32337717 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA017863 |
rs_80358579 |
4 SubmittersRCV000113165RCV000131099 |
|
NM_000059.4(BRCA2):c.3446T>C (p.Met1149Thr)
|
SNV Germline |
Chr13:32337801 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018041 |
rs_80358590 |
11 SubmittersRCV000113177RCV000213389RCV001321107RCV003229809 |
|
NM_000059.4(BRCA2):c.3526G>A (p.Val1176Ile)
|
SNV Germline |
Chr13:32337881 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018256 |
rs_80358602 |
8 SubmittersRCV000113189RCV000221053RCV000637690RCV003477487RCV004804106 |
|
NM_000059.4(BRCA2):c.3999C>G (p.Asn1333Lys)
|
SNV Germline |
Chr13:32338354 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA019346 |
rs_80358649 |
7 SubmittersRCV000113256RCV000637386RCV001176138RCV005003471 |
|
NM_000059.4(BRCA2):c.4027A>G (p.Lys1343Glu)
|
SNV Germline |
Chr13:32338382 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019411 |
rs_483353114 |
5 SubmittersRCV000113262RCV000563477RCV000820321 |
|
NM_000059.4(BRCA2):c.4417A>G (p.Asn1473Asp)
|
SNV Germline |
Chr13:32338772 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020152 |
rs_80358675 |
5 SubmittersRCV000216560RCV000113301RCV002298472RCV003764805 |
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
SNV Germline |
Chr13:32338833 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions not specified BRCA2-related cancer predisposition BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA020265 |
rs_80358679 |
12 SubmittersRCV000113308RCV000218014RCV000509781RCV000556739RCV000763887RCV001553670RCV004804108RCV004732684 |
|
NM_000059.4(BRCA2):c.4535G>C (p.Arg1512Pro)
|
SNV Germline |
Chr13:32338890 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020353 |
rs_80358685 |
7 SubmittersRCV000113314RCV000507478RCV001022661RCV001854525 |
|
NM_000059.4(BRCA2):c.4965C>R (p.Tyr1655Ter)
|
SNV Germline |
Chr13:32339320 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
No Assertion Criteria Provided |
|
rs_80358721 |
1 SubmittersRCV000113363 |
|
NM_000059.4(BRCA2):c.5153A>G (p.Asn1718Ser)
|
SNV Germline |
Chr13:32339508 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA021401 |
rs_80358739 |
11 SubmittersRCV000113388RCV000486901RCV000570495RCV000801842RCV002281930 |
|
NM_000059.4(BRCA2):c.5378A>G (p.Asn1793Ser)
|
SNV Germline |
Chr13:32339733 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA022157 |
rs_80358759 |
9 SubmittersRCV000113424RCV000226446RCV000573455RCV000612467 |
|
NM_000059.4(BRCA2):c.5682C>A (p.Tyr1894Ter)
|
SNV Germline |
Chr13:32340037 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Familial pancreatic carcinoma |
Reviewed By Expert Panel |
CA022957 |
rs_41293497 |
11 SubmittersRCV000113461RCV000506842RCV000131119RCV000496632RCV003474700RCV005359036 |
|
NM_000059.4(BRCA2):c.5686G>C (p.Ala1896Pro)
|
SNV Germline |
Chr13:32340041 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA022980 |
rs_80358795 |
4 SubmittersRCV000113462RCV000818625RCV002345410 |
|
NM_000059.4(BRCA2):c.5710C>T (p.Leu1904Phe)
|
SNV Germline |
Chr13:32340065 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA023027 |
rs_55875643 |
7 SubmittersRCV000113465RCV000522965RCV002345411RCV003105789RCV005359037 |
|
NM_000059.4(BRCA2):c.5743A>G (p.Thr1915Ala)
|
SNV Germline |
Chr13:32340098 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023129 |
rs_80358802 |
4 SubmittersRCV000160099RCV000113475RCV001854527RCV003157405 |
|
NM_000059.4(BRCA2):c.5768A>T (p.Asp1923Val)
|
SNV Germline |
Chr13:32340123 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023194 |
rs_45491005 |
5 SubmittersRCV000113480RCV000220914RCV001854528RCV001024502 |
|
NM_000059.4(BRCA2):c.5987C>T (p.Ala1996Val)
|
SNV Germline |
Chr13:32340342 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023465 |
rs_80358834 |
4 SubmittersRCV000113516RCV002354288RCV003764806 |
|
NM_000059.4(BRCA2):c.5993A>G (p.Gln1998Arg)
|
SNV Germline |
Chr13:32340348 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023479 |
rs_80358835 |
5 SubmittersRCV000113517RCV000503659RCV000580157 |
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
SNV Germline |
Chr13:32340413 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA023575 |
rs_80358842 |
14 SubmittersRCV000113521RCV000129466RCV000160106RCV000471466RCV000587558RCV001354010 |
|
NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)
|
SNV Germline |
Chr13:32341000 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Pancreatic cancer, susceptibility to, 2 |
Reviewed By Expert Panel |
CA024254 |
rs_80358892 |
9 SubmittersRCV000113621RCV000657768RCV000490731RCV001025493RCV000690837RCV005364987 |
|
NM_000059.4(BRCA2):c.475+3A>T
|
SNV Germline |
Chr13:32326153 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer |
Criteria Provided Single Submitter |
CA020764 |
rs_81002795 |
3 SubmittersRCV000113646RCV000735557 |
|
NM_000059.4(BRCA2):c.7505G>C (p.Arg2502Pro)
|
SNV Germline |
Chr13:32356497 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025122 |
rs_56070345 |
5 SubmittersRCV000113770RCV000697931RCV000781093RCV002390253 |
|
NM_000059.4(BRCA2):c.7977-1G>T
|
SNV Germline |
Chr13:32363178 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025373 |
rs_81002874 |
4 SubmittersRCV000113850RCV000197791RCV000580992 |
|
NM_000059.4(BRCA2):c.7977-2A>T
|
SNV Germline |
Chr13:32363177 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA025374 |
rs_276174899 |
2 SubmittersRCV000113851 |
|
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
SNV Germline |
Chr13:32363390 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA025499 |
rs_80359066 |
9 SubmittersRCV000113886RCV000131217RCV000456410RCV000586658RCV003460792 |
|
NM_000059.4(BRCA2):c.8525G>T (p.Arg2842Leu)
|
SNV Germline |
Chr13:32370993 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA025693 |
rs_80359105 |
7 SubmittersRCV000130831RCV000113954RCV000526300RCV000176023RCV001175445 |
|
NM_000059.4(BRCA2):c.8969G>A (p.Trp2990Ter)
|
SNV Germline |
Chr13:32379765 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA025903 |
rs_80359148 |
9 SubmittersRCV000114025RCV000131050RCV000425086RCV000637796RCV003474704 |
|
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)
|
SNV Germline |
Chr13:32379878 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Fanconi anemia complementation group D1 |
Criteria Provided Multiple Submitters No Conflicts |
CA025963 |
rs_80359161 |
9 SubmittersRCV000114042RCV000129295RCV000758971RCV001055261RCV003460793RCV001568367 |
|
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val)
|
SNV Germline |
Chr13:32380116 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA026041 |
rs_80359187 |
8 SubmittersRCV000114070RCV000130070RCV000472340RCV004566991 |
|
NM_000059.4(BRCA2):c.9401G>T (p.Gly3134Val)
|
SNV Germline |
Chr13:32394833 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026142 |
rs_80359215 |
6 SubmittersRCV000114104RCV000254758RCV000472619RCV001019281RCV003474706 |
|
NM_000059.4(BRCA2):c.5555T>A (p.Val1852Asp)
|
SNV Germline |
Chr13:32339910 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA022558 |
rs_483352930 |
2 SubmittersRCV000114983RCV003157407 |
|
NM_000059.4(BRCA2):c.2598A>T (p.Glu866Asp)
|
SNV Germline |
Chr13:32336953 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015772 |
rs_587780549 |
4 SubmittersRCV000129897RCV000119197 |
|
NM_000059.4(BRCA2):c.1742C>T (p.Ser581Phe)
|
SNV Germline |
Chr13:32333220 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition 8 conditions |
Criteria Provided Conflicting Classifications |
CA013031 |
rs_587778118 |
7 SubmittersRCV000120307RCV000476382RCV000223160RCV004804115RCV005003483 |
|
NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn)
|
SNV Germline |
Chr13:32337247 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA016692 |
rs_587778119 |
11 SubmittersRCV000120315RCV000238991RCV000771211RCV000557314RCV001704033RCV001353978 |
|
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val)
|
SNV Germline |
Chr13:32339565 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021701 |
rs_587778120 |
12 SubmittersRCV000120322RCV000410599RCV000571871RCV000586512RCV000699007 |
|
NM_000059.4(BRCA2):c.5230A>G (p.Ser1744Gly)
|
SNV Germline |
Chr13:32339585 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA021808 |
rs_587778121 |
7 SubmittersRCV000120323RCV000563678RCV001039614RCV003477498 |
|
NM_000059.4(BRCA2):c.3485C>T (p.Ala1162Val)
|
SNV Germline |
Chr13:32337840 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA018151 |
rs_587778122 |
8 SubmittersRCV000120325RCV000773046RCV002466433RCV001556658RCV001854598 |
|
NM_000059.4(BRCA2):c.6112C>T (p.His2038Tyr)
|
SNV Germline |
Chr13:32340467 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA023663 |
rs_587778123 |
6 SubmittersRCV000165227RCV000120332RCV000467109RCV003997340 |
|
NM_000059.4(BRCA2):c.3358G>C (p.Glu1120Gln)
|
SNV Germline |
Chr13:32337713 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA017857 |
rs_587778124 |
6 SubmittersRCV000120337RCV000465787RCV001191385RCV003477499 |
|
NM_000059.4(BRCA2):c.2515T>C (p.Tyr839His)
|
SNV Germline |
Chr13:32336870 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA015518 |
rs_587778125 |
8 SubmittersRCV000120344RCV000220257RCV004804116RCV000686331RCV003607240 |
|
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala)
|
SNV Germline |
Chr13:32339766 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA022272 |
rs_370252983 |
14 SubmittersRCV000120347RCV000129811RCV000685972RCV000766625RCV000624983RCV004804117 |
|
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)
|
SNV Germline |
Chr13:32319266 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA015684 |
rs_572782576 |
14 SubmittersRCV000120383RCV000234582RCV000564505RCV000662463RCV000766592RCV004804119 |
|
NM_000059.4(BRCA2):c.340C>T (p.His114Tyr)
|
SNV Germline |
Chr13:32325099 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017959 |
rs_587778129 |
10 SubmittersRCV000120384RCV001041097RCV003460847RCV000758883RCV003997343RCV001020230 |
|
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)
|
SNV Germline |
Chr13:32333316 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided BRCA2-related disorder Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA013524 |
rs_587780646 |
12 SubmittersRCV000122900RCV000129425RCV000221850RCV000238635RCV000985248RCV004530045RCV001358539 |
|
NM_000059.4(BRCA2):c.4081C>G (p.Gln1361Glu)
|
SNV Germline |
Chr13:32338436 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA019486 |
rs_587780652 |
5 SubmittersRCV000122910RCV000779933RCV001021825RCV005359155 |
|
NM_000059.4(BRCA2):c.5045G>C (p.Ser1682Thr)
|
SNV Germline |
Chr13:32339400 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA021177 |
rs_41293493 |
3 SubmittersRCV000122913RCV002336268 |
|
NM_000059.4(BRCA2):c.6173T>G (p.Phe2058Cys)
|
SNV Germline |
Chr13:32340528 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023716 |
rs_55973801 |
2 SubmittersRCV000122920RCV003157409 |
|
NM_000059.4(BRCA2):c.6176G>A (p.Ser2059Asn)
|
SNV Germline |
Chr13:32340531 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023720 |
rs_587780657 |
8 SubmittersRCV000131374RCV000122921RCV003441746RCV002228445RCV004804122 |
|
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn)
|
SNV Germline |
Chr13:32340586 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA023776 |
rs_541826447 |
12 SubmittersRCV000222718RCV000412472RCV000588715RCV002267862RCV001087043RCV005365011 |
|
NM_000059.4(BRCA2):c.67+16A>T
|
SNV Germline |
Chr13:32316543 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024324 |
rs_529148674 |
5 SubmittersRCV000175513RCV001078608RCV000662683RCV000724355 |
|
NM_000059.4(BRCA2):c.7559G>C (p.Arg2520Pro)
|
SNV Germline |
Chr13:32356551 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025148 |
rs_80358982 |
6 SubmittersRCV000122929RCV000479153RCV000214969RCV000985588 |
|
NM_000059.4(BRCA2):c.9872C>G (p.Ser3291Cys)
|
SNV Germline |
Chr13:32398385 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA026318 |
rs_200210279 |
8 SubmittersRCV000122939RCV000129292RCV000480317RCV002265612RCV003493449 |
|
NM_000059.4(BRCA2):c.8332-6G>T
|
SNV Germline |
Chr13:32370396 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025589 |
rs_587780872 |
9 SubmittersRCV000124008RCV000456541RCV000580592RCV000663037RCV004530070RCV003477532RCV005359177 |
|
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)
|
SNV Germline |
Chr13:32355184 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025033 |
rs_431825352 |
11 SubmittersRCV000129097RCV000471031RCV001576378RCV001001296RCV001357165RCV003997479 |
|
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg)
|
SNV Germline |
Chr13:32340642 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Familial prostate cancer Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA023823 |
rs_587781396 |
11 SubmittersRCV000129240RCV000472335RCV000759640RCV001260312RCV005359202RCV002272136 |
|
NM_000059.4(BRCA2):c.1070A>C (p.Glu357Ala)
|
SNV Germline |
Chr13:32332548 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA010740 |
rs_587781399 |
6 SubmittersRCV000129245RCV000552536RCV003493451RCV000507748 |
|
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile)
|
SNV Germline |
Chr13:32326581 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023487 |
rs_587781402 |
12 SubmittersRCV000129253RCV000168233RCV002271413RCV001577607RCV003483493RCV004804127 |
|
NM_000059.4(BRCA2):c.9058T>C (p.Ser3020Pro)
|
SNV Germline |
Chr13:32379854 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025948 |
rs_587781403 |
3 SubmittersRCV000129254RCV001222299 |
|
NM_000059.4(BRCA2):c.4109G>A (p.Gly1370Asp)
|
SNV Germline |
Chr13:32338464 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019535 |
rs_587781406 |
3 SubmittersRCV000129259RCV001857436 |
|
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)
|
SNV Germline |
Chr13:32363370 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Genetic non-acquired premature ovarian failure Familial cancer of breast Breast and/or ovarian cancer |
Criteria Provided Multiple Submitters No Conflicts |
CA025485 |
rs_41293513 |
10 SubmittersRCV000205165RCV000129267RCV000216158RCV000770915RCV003474743RCV003492587 |
|
NM_000059.4(BRCA2):c.4567G>A (p.Gly1523Ser)
|
SNV Germline |
Chr13:32338922 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020470 |
rs_587781418 |
7 SubmittersRCV000129287RCV000506395RCV001204428 |
|
NM_000059.4(BRCA2):c.4068G>T (p.Leu1356Phe)
|
SNV Germline |
Chr13:32338423 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA019462 |
rs_28897724 |
7 SubmittersRCV000129289RCV000227395RCV000483121RCV003997492 |
|
NM_000059.4(BRCA2):c.837C>G (p.Cys279Trp)
|
SNV Germline |
Chr13:32332315 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025616 |
rs_587781421 |
3 SubmittersRCV000129293RCV000206739 |
|
NM_000059.4(BRCA2):c.437T>C (p.Leu146Pro)
|
SNV Germline |
Chr13:32326112 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA020071 |
rs_539929888 |
5 SubmittersRCV000129309RCV000781114RCV000801053RCV003474745 |
|
NM_000059.4(BRCA2):c.5773C>G (p.Gln1925Glu)
|
SNV Germline |
Chr13:32340128 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023201 |
rs_80358806 |
3 SubmittersRCV000129311 |
|
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)
|
SNV Germline |
Chr13:32340379 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA023537 |
rs_56324666 |
11 SubmittersRCV000590592RCV000129322RCV001268978RCV000204438RCV004804129RCV000409077RCV005008032 |
|
NM_000059.4(BRCA2):c.869T>G (p.Val290Gly)
|
SNV Germline |
Chr13:32332347 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025786 |
rs_587781431 |
3 SubmittersRCV000129323RCV000470406 |
|
NM_000059.4(BRCA2):c.6745G>A (p.Ala2249Thr)
|
SNV Germline |
Chr13:32341100 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA024369 |
rs_587781435 |
5 SubmittersRCV000129329RCV000637376RCV003997494 |
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
SNV Germline |
Chr13:32394865 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026155 |
rs_587776476 |
11 SubmittersRCV000144220RCV000129373RCV000499802RCV001353675RCV001088631RCV001114170RCV004532550 |
|
NM_000059.4(BRCA2):c.5593A>G (p.Ile1865Val)
|
SNV Germline |
Chr13:32339948 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA022664 |
rs_587781455 |
6 SubmittersRCV000129385RCV005229958RCV001849922RCV003313041 |
|
NM_000059.4(BRCA2):c.6600T>G (p.Phe2200Leu)
|
SNV Germline |
Chr13:32340955 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA024199 |
rs_587781466 |
2 SubmittersRCV000129406 |
|
NM_000059.4(BRCA2):c.4550A>G (p.Lys1517Arg)
|
SNV Germline |
Chr13:32338905 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020405 |
rs_587781468 |
2 SubmittersRCV000129409 |
|
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)
|
SNV Germline |
Chr13:32336694 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Familial cancer of breast |
Reviewed By Expert Panel |
CA014999 |
rs_587781471 |
15 SubmittersRCV000129415RCV000241405RCV000484555RCV000508058RCV001356658RCV002250567 |
|
NM_000059.4(BRCA2):c.3119C>T (p.Thr1040Ile)
|
SNV Germline |
Chr13:32337474 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA017265 |
rs_587781475 |
4 SubmittersRCV000129423RCV004998260 |
|
NM_000059.4(BRCA2):c.6439C>T (p.His2147Tyr)
|
SNV Germline |
Chr13:32340794 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024036 |
rs_587781476 |
7 SubmittersRCV000129424RCV004804130RCV000480281RCV000545796 |
|
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)
|
SNV Germline |
Chr13:32336629 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 not specified Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA014830 |
rs_142243359 |
10 SubmittersRCV000129440RCV000167883RCV000589431RCV000989010RCV000855637RCV001357461 |
|
NM_000059.4(BRCA2):c.2473A>G (p.Asn825Asp)
|
SNV Germline |
Chr13:32336828 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Inherited ovarian cancer (without breast cancer) Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA015415 |
rs_587781483 |
6 SubmittersRCV000129442RCV000695548RCV004808592RCV005600708 |
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
SNV Germline |
Chr13:32357754 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA025200 |
rs_587781485 |
10 SubmittersRCV000129445RCV000161933RCV000656622RCV000662876RCV000781086 |
|
NM_000059.4(BRCA2):c.4140T>G (p.Ile1380Met)
|
SNV Germline |
Chr13:32338495 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA019602 |
rs_587781488 |
6 SubmittersRCV000129451RCV001046726RCV003234769 |
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
SNV Germline |
Chr13:32379867 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome 8 conditions Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025959 |
rs_587781493 |
3 SubmittersRCV000129458RCV002505104RCV002514718 |
|
NM_000059.4(BRCA2):c.8651A>G (p.Tyr2884Cys)
|
SNV Germline |
Chr13:32376688 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025762 |
rs_587781494 |
3 SubmittersRCV000129459RCV000689857RCV000481920 |
|
NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter)
|
SNV Germline |
Chr13:32362594 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Ovarian neoplasm Breast carcinoma |
Reviewed By Expert Panel |
CA025317 |
rs_587781506 |
6 SubmittersRCV000195555RCV000129483RCV000240971RCV000785229RCV001579298 |
|
NM_000059.4(BRCA2):c.1232T>C (p.Ile411Thr)
|
SNV Germline |
Chr13:32332710 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA011259 |
rs_79597821 |
7 SubmittersRCV000129491RCV001343210RCV001174663RCV003159101RCV003997508 |
|
NM_000059.4(BRCA2):c.752C>G (p.Thr251Arg)
|
SNV Germline |
Chr13:32330989 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025135 |
rs_587781513 |
8 SubmittersRCV000129492RCV000458997RCV000759660RCV001260439RCV003234770 |
|
NM_000059.4(BRCA2):c.9443C>T (p.Ala3148Val)
|
SNV Germline |
Chr13:32394875 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026160 |
rs_587781514 |
5 SubmittersRCV000129493RCV000160170RCV000695537RCV004567086 |
|
NM_000059.4(BRCA2):c.4556C>G (p.Pro1519Arg)
|
SNV Germline |
Chr13:32338911 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020427 |
rs_587781534 |
4 SubmittersRCV000129536RCV000637493RCV000508530 |
|
NM_000059.4(BRCA2):c.2490C>A (p.Asn830Lys)
|
SNV Germline |
Chr13:32336845 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA015457 |
rs_56331088 |
7 SubmittersRCV000129537RCV000411773RCV000168037RCV001578080 |
|
NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn)
|
SNV Germline |
Chr13:32339945 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Breast neoplasm Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA022649 |
rs_587781536 |
7 SubmittersRCV000129542RCV002271414RCV000240784RCV000456720RCV000989040 |
|
NM_000059.4(BRCA2):c.6120A>G (p.Ile2040Met)
|
SNV Germline |
Chr13:32340475 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023674 |
rs_587781539 |
4 SubmittersRCV000129545RCV003159102RCV001849923 |
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
SNV Germline |
Chr13:32379837 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided BRCA2-related disorder Familial cancer of breast |
Reviewed By Expert Panel |
CA025940 |
rs_80359156 |
10 SubmittersRCV000129551RCV000559907RCV000240993RCV000413054RCV004528851RCV004567088 |
|
NM_000059.4(BRCA2):c.5984A>G (p.Asn1995Ser)
|
SNV Germline |
Chr13:32340339 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023451 |
rs_587781552 |
2 SubmittersRCV000129566 |
|
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter)
|
SNV Germline |
Chr13:32337273 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA016767 |
rs_397507296 |
5 SubmittersRCV000129596RCV000241198RCV004796028RCV000688560 |
|
NM_000059.4(BRCA2):c.4892A>T (p.Lys1631Ile)
|
SNV Germline |
Chr13:32339247 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020958 |
rs_587781573 |
3 SubmittersRCV000129607RCV003529989 |
|
NM_000059.4(BRCA2):c.5465A>T (p.Asn1822Ile)
|
SNV Germline |
Chr13:32339820 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA022364 |
rs_587781580 |
9 SubmittersRCV000129617RCV000199798RCV001375483RCV000588979RCV004804133RCV003315878 |
|
NM_000059.4(BRCA2):c.6308C>G (p.Ser2103Ter)
|
SNV Germline/somatic |
Chr13:32340663 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Neoplasm |
Reviewed By Expert Panel |
CA023846 |
rs_80358870 |
5 SubmittersRCV000241268RCV000129618RCV000657723RCV002512530RCV004668791 |
|
NM_000059.4(BRCA2):c.4886C>T (p.Thr1629Ile)
|
SNV Germline |
Chr13:32339241 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA020949 |
rs_587781581 |
4 SubmittersRCV000129619RCV001034948RCV003150948 |
|
NM_000059.4(BRCA2):c.1153A>G (p.Lys385Glu)
|
SNV Germline |
Chr13:32332631 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA010980 |
rs_80358411 |
6 SubmittersRCV000129633RCV000637741RCV002247506 |
|
NM_000059.4(BRCA2):c.971G>A (p.Arg324Lys)
|
SNV Germline |
Chr13:32332449 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026280 |
rs_397507435 |
9 SubmittersRCV000129650RCV000216915RCV000589361RCV000637477RCV000409872RCV004804135 |
|
NM_000059.4(BRCA2):c.4969A>G (p.Asn1657Asp)
|
SNV Germline |
Chr13:32339324 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA021079 |
rs_587781599 |
6 SubmittersRCV000129665RCV000530830RCV000588301 |
|
NM_000059.4(BRCA2):c.4252A>G (p.Ile1418Val)
|
SNV Germline |
Chr13:32338607 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019793 |
rs_143667871 |
4 SubmittersRCV000129676RCV000815760 |
|
NM_000059.4(BRCA2):c.9119T>C (p.Val3040Ala)
|
SNV Germline |
Chr13:32380008 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025999 |
rs_587781606 |
5 SubmittersRCV000129686RCV000508531RCV001548512RCV000702465RCV003460900 |
|
NM_000059.4(BRCA2):c.6479A>G (p.Gln2160Arg)
|
SNV Germline |
Chr13:32340834 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Pancreatic cancer, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA024096 |
rs_587781610 |
6 SubmittersRCV000129697RCV003483496RCV000700192RCV005365019 |
|
NM_000059.4(BRCA2):c.1909+1G>A
|
SNV Germline |
Chr13:32333388 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome 8 conditions Gastric cancer Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA013828 |
rs_587781629 |
16 SubmittersRCV000129734RCV000160183RCV000204822RCV002492497RCV003162573RCV003474753RCV000210109RCV000238861 |
|
NM_000059.4(BRCA2):c.2014A>G (p.Arg672Gly)
|
SNV Germline |
Chr13:32336369 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA014119 |
rs_587781647 |
7 SubmittersRCV000129778RCV000160042RCV000456158RCV001375553 |
|
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys)
|
SNV Germline |
Chr13:32330932 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA024642 |
rs_372188754 |
10 SubmittersRCV000129831RCV000200246RCV000656999RCV001824639RCV003997527 |
|
NM_000059.4(BRCA2):c.2792G>A (p.Gly931Glu)
|
SNV Germline |
Chr13:32337147 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016375 |
rs_587781685 |
3 SubmittersRCV000129848RCV001857442 |
|
NM_000059.4(BRCA2):c.8183T>C (p.Val2728Ala)
|
SNV Germline |
Chr13:32363385 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA025496 |
rs_587781719 |
9 SubmittersRCV000129903RCV000463515RCV000663059RCV001251367RCV000523831RCV005359220 |
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
SNV Germline |
Chr13:32340368 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition 8 conditions |
Criteria Provided Conflicting Classifications |
CA023516 |
rs_587781760 |
9 SubmittersRCV000129979RCV000472369RCV000985554RCV003235055RCV004804142RCV005406838 |
|
NM_000059.4(BRCA2):c.8782G>T (p.Ala2928Ser)
|
SNV Germline |
Chr13:32379344 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025825 |
rs_587781762 |
7 SubmittersRCV000129984RCV000479709RCV000544583RCV004567101RCV004804143 |
|
NM_000059.4(BRCA2):c.4987G>C (p.Val1663Leu)
|
SNV Germline |
Chr13:32339342 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition 8 conditions |
Criteria Provided Conflicting Classifications |
CA021111 |
rs_587781763 |
9 SubmittersRCV000129985RCV000483840RCV000167888RCV000766617RCV004804144RCV005008034 |
|
NM_000059.4(BRCA2):c.4070T>G (p.Leu1357Arg)
|
SNV Germline |
Chr13:32338425 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA019466 |
rs_55796504 |
10 SubmittersRCV000781066RCV000130026RCV000409740RCV000160072RCV000462928RCV001798438 |
|
NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp)
|
SNV Germline |
Chr13:32333144 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast not specified Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA012839 |
rs_587781794 |
10 SubmittersRCV000130055RCV000543145RCV000587388RCV002250568RCV001549274RCV003997544RCV004544293 |
|
NM_000059.4(BRCA2):c.1376T>C (p.Leu459Ser)
|
SNV Germline |
Chr13:32332854 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA011821 |
rs_587781799 |
7 SubmittersRCV000231284RCV000130063RCV000483293RCV002509235 |
|
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)
|
SNV Germline |
Chr13:32379396 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Fanconi anemia complementation group D1 not specified Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025844 |
rs_587781800 |
11 SubmittersRCV000130065RCV000410010RCV000462799RCV000487119RCV001112819RCV001193118RCV004567103RCV004804146 |
|
NM_000059.4(BRCA2):c.1765A>C (p.Lys589Gln)
|
SNV Germline |
Chr13:32333243 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA013152 |
rs_587781801 |
4 SubmittersRCV000130066RCV000558175RCV003997546 |
|
NM_000059.4(BRCA2):c.5691G>T (p.Leu1897Phe)
|
SNV Germline |
Chr13:32340046 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022992 |
rs_587781826 |
3 SubmittersRCV000130107RCV000798649 |
|
NM_000059.4(BRCA2):c.1993A>G (p.Thr665Ala)
|
SNV Germline |
Chr13:32336348 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA014092 |
rs_144192844 |
10 SubmittersRCV000130109RCV001420707RCV000466395RCV000239179RCV000586597RCV004804147 |
|
NM_000059.4(BRCA2):c.2947C>A (p.Pro983Thr)
|
SNV Germline |
Chr13:32337302 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016868 |
rs_587781848 |
3 SubmittersRCV000130152RCV003529990 |
|
NM_000059.4(BRCA2):c.7879A>G (p.Ile2627Val)
|
SNV Germline |
Chr13:32362596 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025320 |
rs_80359014 |
2 SubmittersRCV000130167RCV001857444 |
|
NM_000059.4(BRCA2):c.8115C>G (p.Ser2705Arg)
|
SNV Germline |
Chr13:32363317 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025458 |
rs_587781889 |
6 SubmittersRCV000130221RCV000411253RCV003237738RCV000796695 |
|
NM_000059.4(BRCA2):c.4090A>G (p.Ile1364Val)
|
SNV Germline |
Chr13:32338445 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA019501 |
rs_56248502 |
10 SubmittersRCV000130224RCV000410854RCV000587668RCV000557623RCV001170463 |
|
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys)
|
SNV Germline |
Chr13:32338886 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA020330 |
rs_376338226 |
13 SubmittersRCV000130226RCV000411643RCV000476816RCV000589639RCV001263513RCV004732694 |
|
NM_000059.4(BRCA2):c.8542G>C (p.Glu2848Gln)
|
SNV Germline |
Chr13:32371010 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025701 |
rs_587781893 |
5 SubmittersRCV000130229RCV000257963RCV000768608RCV003477542RCV005365024 |
|
NM_000059.4(BRCA2):c.9369C>A (p.Ser3123Arg)
|
SNV Germline |
Chr13:32394801 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026118 |
rs_587781901 |
2 SubmittersRCV000130239RCV001849930 |
|
NM_000059.4(BRCA2):c.1783C>T (p.His595Tyr)
|
SNV Germline |
Chr13:32333261 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013198 |
rs_587781906 |
3 SubmittersRCV000130245RCV001305959 |
|
NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys)
|
SNV Germline |
Chr13:32336877 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA015536 |
rs_587781915 |
8 SubmittersRCV000205313RCV000130258RCV001284076RCV001532896RCV000663004 |
|
NM_000059.4(BRCA2):c.1994C>A (p.Thr665Lys)
|
SNV Germline |
Chr13:32336349 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA014101 |
rs_587781917 |
2 SubmittersRCV000130260 |
|
NM_000059.4(BRCA2):c.7706G>A (p.Gly2569Asp)
|
SNV Germline |
Chr13:32357830 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025238 |
rs_587781943 |
8 SubmittersRCV000130311RCV000526968RCV001824641RCV001284443RCV004804149 |
|
NM_000059.4(BRCA2):c.6289A>G (p.Thr2097Ala)
|
SNV Germline |
Chr13:32340644 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023825 |
rs_587781965 |
6 SubmittersRCV000130344RCV001062323RCV001535459RCV003237739 |
|
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)
|
SNV Germline |
Chr13:32398499 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided BRCA2-related cancer predisposition BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026352 |
rs_76635144 |
12 SubmittersRCV000130425RCV000197376RCV000425781RCV000989093RCV001704055RCV004804150RCV004724827 |
|
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr)
|
SNV Germline |
Chr13:32339847 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA022439 |
rs_587782007 |
16 SubmittersRCV000130427RCV000160091RCV000459937RCV000766626RCV000409845RCV004532560RCV004804151 |
|
NM_000059.4(BRCA2):c.8608C>T (p.Gln2870Ter)
|
SNV Germline |
Chr13:32371076 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025733 |
rs_587782010 |
3 SubmittersRCV000130433RCV000241135RCV005089642 |
|
NM_000059.4(BRCA2):c.4723G>A (p.Asp1575Asn)
|
SNV Germline |
Chr13:32339078 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA020710 |
rs_587782013 |
3 SubmittersRCV000130438RCV002509236 |
|
NM_000059.4(BRCA2):c.2593G>C (p.Glu865Gln)
|
SNV Germline |
Chr13:32336948 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Conflicting Classifications |
CA015745 |
rs_587782014 |
8 SubmittersRCV000130440RCV000557017RCV001193993RCV001770104RCV004804152RCV005229963 |
|
NM_000059.4(BRCA2):c.2660A>G (p.Glu887Gly)
|
SNV Germline |
Chr13:32337015 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA015980 |
rs_587782015 |
7 SubmittersRCV000130441RCV000486429RCV000637382RCV003998059RCV004804153 |
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
SNV Germline |
Chr13:32332479 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA010039 |
rs_587782016 |
8 SubmittersRCV000198970RCV000985455RCV000130442RCV000410354RCV002492503 |
|
NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala)
|
SNV Germline |
Chr13:32379464 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025864 |
rs_587782021 |
11 SubmittersRCV000410479RCV000130450RCV000160160RCV000557418RCV000588120RCV004804154 |
|
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)
|
SNV Germline |
Chr13:32379387 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA2-related disorder Familial cancer of breast 8 conditions |
Criteria Provided Conflicting Classifications |
CA025840 |
rs_373227180 |
15 SubmittersRCV000130462RCV000356690RCV000409083RCV000233879RCV000780004RCV001775622RCV004532561RCV004567114RCV005008035 |
|
NM_000059.4(BRCA2):c.5650A>T (p.Ile1884Phe)
|
SNV Germline |
Chr13:32340005 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022850 |
rs_398122538 |
4 SubmittersRCV000130467RCV000795400 |
|
NM_000059.4(BRCA2):c.7777G>T (p.Gly2593Ter)
|
SNV Germline |
Chr13:32357901 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025271 |
rs_587782028 |
5 SubmittersRCV000130472RCV000241421RCV000499832RCV001380613 |
|
NM_000059.4(BRCA2):c.5444C>T (p.Thr1815Ile)
|
SNV Germline |
Chr13:32339799 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA022341 |
rs_587782031 |
7 SubmittersRCV000130479RCV000800814RCV002466442 |
|
NM_000059.4(BRCA2):c.6737C>G (p.Pro2246Arg)
|
SNV Germline |
Chr13:32341092 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024354 |
rs_587782038 |
6 SubmittersRCV000130498RCV000531111RCV003998061RCV004998269 |
|
NM_000059.4(BRCA2):c.1880C>T (p.Ala627Val)
|
SNV Germline |
Chr13:32333358 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013703 |
rs_587782055 |
3 SubmittersRCV000130526RCV001315911 |
|
NM_000059.4(BRCA2):c.1279G>C (p.Asp427His)
|
SNV Germline |
Chr13:32332757 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA011443 |
rs_147797288 |
4 SubmittersRCV000130527RCV000699217RCV001175560 |
|
NM_000059.4(BRCA2):c.1078C>G (p.Pro360Ala)
|
SNV Germline |
Chr13:32332556 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA010756 |
rs_587782057 |
9 SubmittersRCV000130533RCV000588217RCV000689505RCV003998062 |
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
SNV Germline |
Chr13:32339586 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided 8 conditions |
Criteria Provided Conflicting Classifications |
CA021814 |
rs_587782060 |
10 SubmittersRCV000130537RCV000198995RCV000410002RCV000590786RCV001284091RCV002505110 |
|
NM_000059.4(BRCA2):c.2366A>G (p.Lys789Arg)
|
SNV Germline |
Chr13:32336721 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA015045 |
rs_587782062 |
7 SubmittersRCV000130544RCV000690062RCV000679161RCV001356886 |
|
NM_000059.4(BRCA2):c.5131G>A (p.Val1711Ile)
|
SNV Germline |
Chr13:32339486 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021369 |
rs_587782067 |
6 SubmittersRCV000130552RCV000586102RCV000797822 |
|
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)
|
SNV Germline |
Chr13:32332622 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Malignant tumor of breast Fanconi anemia complementation group D1 Breast and/or ovarian cancer Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA010932 |
rs_371454630 |
12 SubmittersRCV000130560RCV000195524RCV000238792RCV000500188RCV001353620RCV001112103RCV001170455RCV002227070RCV004532563 |
|
NM_000059.4(BRCA2):c.3775A>C (p.Ser1259Arg)
|
SNV Germline |
Chr13:32338130 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018788 |
rs_587782071 |
3 SubmittersRCV000130561RCV000213541 |
|
NM_000059.4(BRCA2):c.3329A>T (p.Glu1110Val)
|
SNV Germline |
Chr13:32337684 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA017795 |
rs_587782072 |
8 SubmittersRCV000130562RCV000478180RCV000637374RCV001193169RCV003998063 |
|
NM_000059.4(BRCA2):c.9206G>T (p.Cys3069Phe)
|
SNV Germline |
Chr13:32380095 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026032 |
rs_587782091 |
7 SubmittersRCV000205419RCV000215969RCV000130600RCV003998067RCV004567120 |
|
NM_000059.4(BRCA2):c.8332-3C>G
|
SNV Germline |
Chr13:32370399 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025586 |
rs_587782093 |
4 SubmittersRCV000130604RCV000758959RCV000810256RCV003474768 |
|
NM_000059.4(BRCA2):c.2312T>G (p.Leu771Ter)
|
SNV Germline |
Chr13:32336667 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA014913 |
rs_587782095 |
8 SubmittersRCV000130606RCV000241179RCV000496732RCV000657630 |
|
NM_000059.4(BRCA2):c.9981A>T (p.Lys3327Asn)
|
SNV Germline |
Chr13:32398494 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026351 |
rs_587782098 |
6 SubmittersRCV000130611RCV000434493RCV001342071RCV004806079 |
|
NM_000059.4(BRCA2):c.1006G>A (p.Ala336Thr)
|
SNV Germline |
Chr13:32332484 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA010131 |
rs_587782100 |
8 SubmittersRCV000130613RCV000410382RCV000809632RCV001775624RCV001800435 |
|
NM_000059.4(BRCA2):c.6607G>T (p.Val2203Phe)
|
SNV Germline |
Chr13:32340962 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024209 |
rs_587782136 |
4 SubmittersRCV000130684RCV003114283 |
|
NM_000059.4(BRCA2):c.11G>A (p.Gly4Glu)
|
SNV Germline |
Chr13:32316471 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011142 |
rs_587782137 |
2 SubmittersRCV000130687RCV000537170 |
|
NM_000059.4(BRCA2):c.1700C>T (p.Thr567Ile)
|
SNV Germline |
Chr13:32333178 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012932 |
rs_587782139 |
3 SubmittersRCV000130692RCV002514734 |
|
NM_000059.4(BRCA2):c.1046A>C (p.Lys349Thr)
|
SNV Germline |
Chr13:32332524 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA010666 |
rs_587782140 |
2 SubmittersRCV000130696 |
|
NM_000059.4(BRCA2):c.2449A>C (p.Lys817Gln)
|
SNV Germline |
Chr13:32336804 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015318 |
rs_587782142 |
3 SubmittersRCV000130700RCV003529991 |
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
SNV Germline |
Chr13:32336588 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA014707 |
rs_374691587 |
11 SubmittersRCV000130703RCV000160045RCV004804156RCV000197517RCV000410547RCV000985472 |
|
NM_000059.4(BRCA2):c.6428C>T (p.Ser2143Leu)
|
SNV Germline |
Chr13:32340783 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024021 |
rs_149330893 |
4 SubmittersRCV000130744RCV001857453RCV004804157 |
|
NM_000059.4(BRCA2):c.2290G>C (p.Glu764Gln)
|
SNV Germline |
Chr13:32336645 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA014892 |
rs_587782158 |
6 SubmittersRCV000130748RCV000409830RCV001203704RCV001375608 |
|
NM_000059.4(BRCA2):c.1381G>A (p.Glu461Lys)
|
SNV Germline |
Chr13:32332859 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011830 |
rs_587782159 |
6 SubmittersRCV000130749RCV001375609RCV000410640RCV001203705 |
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
SNV Germline |
Chr13:32341173 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024446 |
rs_587782174 |
7 SubmittersRCV000130779RCV000501677RCV000765132RCV001857455 |
|
NM_000059.4(BRCA2):c.6143A>C (p.Asn2048Thr)
|
SNV Germline |
Chr13:32340498 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA023693 |
rs_80358853 |
6 SubmittersRCV000130782RCV000637735RCV001284098RCV003998077 |
|
NM_000059.4(BRCA2):c.5002G>A (p.Ala1668Thr)
|
SNV Germline |
Chr13:32339357 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021125 |
rs_587782182 |
4 SubmittersRCV000130804RCV000821456 |
|
NM_000059.4(BRCA2):c.6361G>A (p.Glu2121Lys)
|
SNV Germline |
Chr13:32340716 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023952 |
rs_587782183 |
4 SubmittersRCV000130806RCV000496406RCV002514737 |
|
NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg)
|
SNV Germline |
Chr13:32338728 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA020055 |
rs_587782185 |
9 SubmittersRCV000486756RCV000469193RCV000130812RCV001280646RCV000238654 |
|
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala)
|
SNV Germline |
Chr13:32339312 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast 8 conditions |
Criteria Provided Conflicting Classifications |
CA021061 |
rs_587782186 |
13 SubmittersRCV000130816RCV000210984RCV000496784RCV000637549RCV001283929RCV001354039RCV005008037 |
|
NM_000059.4(BRCA2):c.3904A>G (p.Thr1302Ala)
|
SNV Germline |
Chr13:32338259 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome BRCA2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA019114 |
rs_543339423 |
9 SubmittersRCV000130823RCV000255972RCV000663001RCV000698088RCV003330504RCV005431481 |
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
SNV Germline |
Chr13:32356499 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025124 |
rs_587782191 |
17 SubmittersRCV000130837RCV000459125RCV000479926RCV000779919RCV000662953RCV004528856RCV005365030 |
|
NM_000059.4(BRCA2):c.3494A>G (p.His1165Arg)
|
SNV Germline |
Chr13:32337849 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA018167 |
rs_587782201 |
9 SubmittersRCV000410985RCV000130862RCV000483928RCV000779959RCV000230802 |
|
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr)
|
SNV Germline |
Chr13:32337354 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA016996 |
rs_374769365 |
9 SubmittersRCV000130892RCV000257906RCV000587614RCV000768593RCV001353934 |
|
NM_000059.4(BRCA2):c.2980G>A (p.Ala994Thr)
|
SNV Germline |
Chr13:32337335 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA016949 |
rs_587782223 |
8 SubmittersRCV000130914RCV001053941RCV003998084RCV001293577RCV002464121 |
|
NM_000059.4(BRCA2):c.4147G>A (p.Asp1383Asn)
|
SNV Germline |
Chr13:32338502 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA019617 |
rs_587782234 |
3 SubmittersRCV000130931RCV004700445 |
|
NM_000059.4(BRCA2):c.5365A>G (p.Lys1789Glu)
|
SNV Germline |
Chr13:32339720 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA022152 |
rs_587782240 |
5 SubmittersRCV000130942RCV000198002RCV000781107 |
|
NM_000059.4(BRCA2):c.2558A>G (p.Gln853Arg)
|
SNV Germline |
Chr13:32336913 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA015641 |
rs_56245590 |
7 SubmittersRCV000130947RCV000211539RCV001001212RCV004772843 |
|
NM_000059.4(BRCA2):c.6076A>G (p.Thr2026Ala)
|
SNV Germline |
Chr13:32340431 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023608 |
rs_587782249 |
4 SubmittersRCV000130958RCV001367383 |
|
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)
|
SNV Germline |
Chr13:32394796 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome not specified Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA026116 |
rs_587782313 |
11 SubmittersRCV000131208RCV000238950RCV000485860RCV001085485RCV001804852RCV001355914 |
|
NM_000059.4(BRCA2):c.5870T>C (p.Ile1957Thr)
|
SNV Germline |
Chr13:32340225 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023326 |
rs_587782320 |
14 SubmittersRCV000131227RCV000496609RCV000476757RCV001200385RCV003483505RCV005008038RCV005359255RCV004804160 |
|
NM_000059.4(BRCA2):c.6938-15A>G
|
SNV Germline |
Chr13:32346812 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024588 |
rs_587782358 |
3 SubmittersRCV000131308RCV000233095 |
|
NM_000059.4(BRCA2):c.6823G>A (p.Glu2275Lys)
|
SNV Germline |
Chr13:32341178 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA024463 |
rs_587782362 |
9 SubmittersRCV000131323RCV000160121RCV000812168RCV003998101RCV003321516 |
|
NM_000059.4(BRCA2):c.8099T>C (p.Ile2700Thr)
|
SNV Germline |
Chr13:32363301 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025453 |
rs_587782365 |
2 SubmittersRCV000131327RCV003644908 |
|
NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys)
|
SNV Germline |
Chr13:32340038 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast neoplasm Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA022970 |
rs_146351301 |
11 SubmittersRCV000131358RCV000227239RCV000240768RCV000999647RCV000590426RCV002265617RCV003607244 |
|
NM_000059.4(BRCA2):c.3296C>A (p.Ser1099Ter)
|
SNV Germline |
Chr13:32337651 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA017728 |
rs_397507663 |
6 SubmittersRCV000131361RCV000241055RCV001582605RCV001857460 |
|
NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val)
|
SNV Germline |
Chr13:32339891 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Hereditary breast ovarian cancer syndrome Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA022506 |
rs_587782375 |
13 SubmittersRCV000131366RCV000210966RCV000506172RCV000588246RCV001088770RCV005359262 |
|
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile)
|
SNV Germline |
Chr13:32337911 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA018342 |
rs_587782420 |
11 SubmittersRCV000131471RCV000168159RCV000502658RCV000985507RCV001353460RCV003998106 |
|
NM_000059.4(BRCA2):c.1352G>A (p.Ser451Asn)
|
SNV Germline |
Chr13:32332830 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011709 |
rs_587782422 |
3 SubmittersRCV000131473RCV000474836 |
|
NM_000059.4(BRCA2):c.9593G>A (p.Cys3198Tyr)
|
SNV Germline |
Chr13:32396989 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026226 |
rs_587782435 |
3 SubmittersRCV000131494RCV000411555RCV001240911 |
|
NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu)
|
SNV Germline |
Chr13:32336879 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA015544 |
rs_587782454 |
10 SubmittersRCV000131527RCV000238749RCV000501377RCV000462356RCV000758877RCV004804653 |
|
NM_000059.4(BRCA2):c.2341A>C (p.Asn781His)
|
SNV Germline |
Chr13:32336696 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA015005 |
rs_587782485 |
5 SubmittersRCV000131604RCV000697994RCV000985476RCV001420793 |
|
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)
|
SNV Germline |
Chr13:32363244 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025420 |
rs_587782519 |
11 SubmittersRCV000239323RCV000131690RCV000168172RCV001114096RCV000724545RCV000781102RCV003462020 |
|
NM_000059.4(BRCA2):c.4695G>T (p.Lys1565Asn)
|
SNV Germline |
Chr13:32339050 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA020660 |
rs_587782522 |
10 SubmittersRCV000131707RCV000200646RCV000239158RCV000481655RCV000781154 |
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
SNV Germline |
Chr13:32332944 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Breast and/or ovarian cancer not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA012149 |
rs_587782535 |
15 SubmittersRCV000131739RCV000198082RCV000586148RCV001535543RCV001170456RCV003321517RCV003493458 |
|
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)
|
SNV Germline |
Chr13:32394925 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Condition: not provided Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026176 |
rs_587782568 |
8 SubmittersRCV000131791RCV000483383RCV000657154RCV001110139RCV001110138RCV001082356 |
|
NM_000059.4(BRCA2):c.3770C>T (p.Pro1257Leu)
|
SNV Germline |
Chr13:32338125 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA018762 |
rs_587782581 |
5 SubmittersRCV000131915RCV001215437RCV003998118 |
|
NM_000059.4(BRCA2):c.2623G>A (p.Val875Ile)
|
SNV Germline |
Chr13:32336978 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA015888 |
rs_587782582 |
8 SubmittersRCV000131916RCV000512784RCV001360763RCV003998119 |
|
NM_000059.4(BRCA2):c.5624A>G (p.Lys1875Arg)
|
SNV Germline |
Chr13:32339979 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022730 |
rs_587782583 |
5 SubmittersRCV000131917RCV000223072RCV000688314 |
|
NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)
|
SNV Germline |
Chr13:32339514 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA021429 |
rs_80358740 |
10 SubmittersRCV000131919RCV000238884RCV000459811RCV000657663 |
|
NM_000059.4(BRCA2):c.6938-5C>T
|
SNV Germline |
Chr13:32346822 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024595 |
rs_587782585 |
3 SubmittersRCV000131924RCV001420009RCV001284585 |
|
NM_000059.4(BRCA2):c.7849A>G (p.Arg2617Gly)
|
SNV Germline |
Chr13:32362566 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025307 |
rs_587782588 |
3 SubmittersRCV000131927RCV001222317RCV004567145 |
|
NM_000059.4(BRCA2):c.1936A>C (p.Ser646Arg)
|
SNV Germline |
Chr13:32336291 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA013962 |
rs_587782589 |
5 SubmittersRCV000131928RCV000555622RCV004998281RCV005359283 |
|
NM_000059.4(BRCA2):c.5903C>T (p.Ser1968Leu)
|
SNV Germline |
Chr13:32340258 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA023356 |
rs_587782597 |
7 SubmittersRCV000131945RCV000532143RCV000779958RCV003998122RCV005008039 |
|
NM_000059.4(BRCA2):c.9395A>G (p.Lys3132Arg)
|
SNV Germline |
Chr13:32394827 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026136 |
rs_587782599 |
3 SubmittersRCV000131952RCV000690318 |
|
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser)
|
SNV Germline |
Chr13:32339853 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA022451 |
rs_587782601 |
12 SubmittersRCV000131959RCV000206165RCV000432115RCV000985250RCV005359285RCV003444206RCV004804656 |
|
NM_000059.4(BRCA2):c.8798G>A (p.Arg2933Lys)
|
SNV Germline |
Chr13:32379360 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025828 |
rs_553440338 |
3 SubmittersRCV000131983RCV000637406 |
|
NM_000059.4(BRCA2):c.3412C>T (p.Gln1138Ter)
|
SNV Germline |
Chr13:32337767 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA017964 |
rs_587782613 |
3 SubmittersRCV000131988RCV000241121 |
|
NM_000059.4(BRCA2):c.10211G>A (p.Cys3404Tyr)
|
SNV Germline |
Chr13:32398724 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA010473 |
rs_587782614 |
4 SubmittersRCV000131989RCV000637786RCV002267883 |
|
NM_000059.4(BRCA2):c.8299C>T (p.Pro2767Ser)
|
SNV Germline |
Chr13:32363501 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025557 |
rs_587782619 |
6 SubmittersRCV000132002RCV000587651RCV001237414RCV003998126 |
|
NM_000059.4(BRCA2):c.6424T>C (p.Ser2142Pro)
|
SNV Germline |
Chr13:32340779 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024019 |
rs_587782624 |
4 SubmittersRCV000132008RCV000637648 |
|
NM_000059.4(BRCA2):c.3908G>A (p.Gly1303Asp)
|
SNV Germline |
Chr13:32338263 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA019126 |
rs_587782645 |
6 SubmittersRCV000132046RCV000168154RCV000989024RCV004804658 |
|
NM_000059.4(BRCA2):c.1439G>A (p.Cys480Tyr)
|
SNV Germline |
Chr13:32332917 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012042 |
rs_587782648 |
3 SubmittersRCV000132056RCV000637628 |
|
NM_000059.4(BRCA2):c.4331A>G (p.Asn1444Ser)
|
SNV Germline |
Chr13:32338686 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA019996 |
rs_587782661 |
2 SubmittersRCV000132077 |
|
NM_000059.4(BRCA2):c.3671G>T (p.Gly1224Val)
|
SNV Germline |
Chr13:32338026 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018515 |
rs_587782670 |
5 SubmittersRCV000132093RCV000703489RCV000985511 |
|
NM_000059.4(BRCA2):c.7580T>C (p.Val2527Ala)
|
SNV Germline |
Chr13:32356572 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome 8 conditions Pancreatic cancer, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025161 |
rs_587782676 |
6 SubmittersRCV000132102RCV000508502RCV000637450RCV005008040RCV005365038 |
|
NM_000059.4(BRCA2):c.977G>A (p.Ser326Asn)
|
SNV Germline |
Chr13:32332455 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026295 |
rs_587782691 |
6 SubmittersRCV000132125RCV000588060RCV003644909RCV005359292 |
|
NM_000059.4(BRCA2):c.754G>A (p.Asp252Asn)
|
SNV Germline |
Chr13:32330991 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA025142 |
rs_549269828 |
8 SubmittersRCV000132172RCV000409025RCV000694838RCV001570057 |
|
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile)
|
SNV Germline |
Chr13:32333192 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition not specified |
Criteria Provided Conflicting Classifications |
CA012979 |
rs_587782713 |
13 SubmittersRCV000132189RCV000412238RCV000468570RCV000587521RCV004804659RCV005417971 |
|
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn)
|
SNV Germline |
Chr13:32339583 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions Condition: not provided not specified Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA021793 |
rs_587782714 |
11 SubmittersRCV000132192RCV000239058RCV005008042RCV003477559RCV000505841RCV000637755RCV004532578 |
|
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys)
|
SNV Germline |
Chr13:32357809 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA025232 |
rs_587782715 |
7 SubmittersRCV000132194RCV000692491RCV000985592RCV003474786RCV003998136RCV004528861 |
|
NM_000059.4(BRCA2):c.3985A>G (p.Arg1329Gly)
|
SNV Germline |
Chr13:32338340 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019330 |
rs_587782718 |
4 SubmittersRCV000132205RCV001857467 |
|
NM_000059.4(BRCA2):c.3772A>G (p.Ile1258Val)
|
SNV Germline |
Chr13:32338127 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA018772 |
rs_587782720 |
9 SubmittersRCV000132209RCV000657047RCV000465587RCV003998137RCV004528862RCV003493460 |
|
NM_000059.4(BRCA2):c.3723T>G (p.Phe1241Leu)
|
SNV Germline |
Chr13:32338078 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Prostate cancer Prostate neoplasm Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018663 |
rs_587782723 |
7 SubmittersRCV000132213RCV000471263RCV000478604RCV000414919RCV001196211RCV004804660 |
|
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)
|
SNV Germline |
Chr13:32344602 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Fanconi anemia complementation group D1 Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA024540 |
rs_576279166 |
12 SubmittersRCV000132216RCV000203848RCV000410842RCV000479638RCV000353391RCV001284584RCV005365039 |
|
NM_000059.4(BRCA2):c.8303T>A (p.Leu2768His)
|
SNV Germline |
Chr13:32363505 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025559 |
rs_587782732 |
9 SubmittersRCV000132229RCV000220276RCV000539628RCV000766316RCV001353839RCV003462040RCV004804661 |
|
NM_000059.4(BRCA2):c.2389A>C (p.Lys797Gln)
|
SNV Germline |
Chr13:32336744 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related disorder Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA015097 |
rs_587782737 |
7 SubmittersRCV000132239RCV000779981RCV000806650RCV003330508RCV003998138 |
|
NM_000059.4(BRCA2):c.5048A>T (p.Gln1683Leu)
|
SNV Germline |
Chr13:32339403 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA021181 |
rs_587782738 |
6 SubmittersRCV000132240RCV000231764RCV001537260RCV004589633 |
|
NM_000059.4(BRCA2):c.6106C>T (p.Pro2036Ser)
|
SNV Germline |
Chr13:32340461 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023659 |
rs_587782740 |
5 SubmittersRCV000132243RCV000506799RCV001359318 |
|
NM_000059.4(BRCA2):c.5927G>T (p.Gly1976Val)
|
SNV Germline |
Chr13:32340282 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition BRCA2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA023378 |
rs_587782751 |
10 SubmittersRCV000132261RCV000203955RCV000586206RCV000663212RCV004804662RCV004532580RCV000254817 |
|
NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val)
|
SNV Germline |
Chr13:32398510 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA026355 |
rs_567476314 |
6 SubmittersRCV000232518RCV000662506RCV000679200RCV000132264 |
|
NM_000059.4(BRCA2):c.4631A>G (p.Asn1544Ser)
|
SNV Germline |
Chr13:32338986 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020557 |
rs_587782753 |
6 SubmittersRCV000132267RCV000779985RCV001066722RCV001284570 |
|
NM_000059.4(BRCA2):c.4873G>A (p.Glu1625Lys)
|
SNV Germline |
Chr13:32339228 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA020938 |
rs_587782754 |
9 SubmittersRCV000215379RCV000132268RCV000468942RCV000144218RCV004800296RCV005359295 |
|
NM_000059.4(BRCA2):c.1265A>C (p.Asn422Thr)
|
SNV Germline |
Chr13:32332743 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA011390 |
rs_587782755 |
4 SubmittersRCV000132270RCV001244124RCV005600743 |
|
NM_000059.4(BRCA2):c.8225A>G (p.Asn2742Ser)
|
SNV Germline |
Chr13:32363427 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025525 |
rs_587782763 |
4 SubmittersRCV000132287RCV000587124RCV000460675RCV003998141 |
|
NM_000059.4(BRCA2):c.5341G>A (p.Asp1781Asn)
|
SNV Germline |
Chr13:32339696 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA022039 |
rs_183478654 |
10 SubmittersRCV000132288RCV000409214RCV000637785RCV000589648 |
|
NM_000059.4(BRCA2):c.8332-2A>G
|
SNV Germline |
Chr13:32370400 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Malignant tumor of breast Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA025585 |
rs_587782774 |
13 SubmittersRCV000132304RCV000258406RCV000503891RCV001353698RCV001528892RCV003474788 |
|
NM_000059.4(BRCA2):c.6144T>G (p.Asn2048Lys)
|
SNV Germline |
Chr13:32340499 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023696 |
rs_587782775 |
6 SubmittersRCV000132308RCV000233381RCV003607245RCV005625312 |
|
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)
|
SNV Germline |
Chr13:32379807 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA025924 |
rs_587782779 |
8 SubmittersRCV000132316RCV000160162RCV000530210RCV000656810RCV003492630 |
|
NM_000059.4(BRCA2):c.8101T>C (p.Ser2701Pro)
|
SNV Germline |
Chr13:32363303 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025455 |
rs_587782781 |
3 SubmittersRCV000132321RCV000695361 |
|
NM_000059.4(BRCA2):c.1863A>C (p.Glu621Asp)
|
SNV Germline |
Chr13:32333341 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA013650 |
rs_587782782 |
2 SubmittersRCV000132323 |
|
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu)
|
SNV Germline |
Chr13:32370487 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025633 |
rs_587782785 |
12 SubmittersRCV000132333RCV000411091RCV001192608RCV001086081RCV001170974RCV000679192RCV005359302 |
|
NM_000059.4(BRCA2):c.428C>G (p.Pro143Arg)
|
SNV Germline |
Chr13:32326103 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast BRCA2-related cancer predisposition 8 conditions |
Criteria Provided Conflicting Classifications |
CA019922 |
rs_587782795 |
11 SubmittersRCV000132345RCV000590737RCV000637494RCV001175343RCV003315919RCV004567154RCV004804663RCV005008043 |
|
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp)
|
SNV Germline |
Chr13:32336843 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA015446 |
rs_574039421 |
14 SubmittersRCV000132391RCV000168262RCV000222546RCV000662824RCV001355560RCV001719905 |
|
NM_000059.4(BRCA2):c.4672A>C (p.Ser1558Arg)
|
SNV Germline |
Chr13:32339027 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA020625 |
rs_587782822 |
9 SubmittersRCV000132397RCV000255433RCV000411787RCV000542360RCV001818333 |
|
NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)
|
SNV Germline |
Chr13:32337275 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA016790 |
rs_539613324 |
11 SubmittersRCV000132411RCV000167943RCV000485759RCV000657012RCV001353846RCV003335127RCV002250570 |
|
NM_000059.4(BRCA2):c.3053A>G (p.Lys1018Arg)
|
SNV Germline |
Chr13:32337408 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017099 |
rs_587782855 |
3 SubmittersRCV000132464 |
|
NM_000059.4(BRCA2):c.8611G>C (p.Glu2871Gln)
|
SNV Germline |
Chr13:32371079 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025734 |
rs_587782860 |
2 SubmittersRCV000132479RCV000761078 |
|
NM_000059.4(BRCA2):c.1849T>C (p.Ser617Pro)
|
SNV Germline |
Chr13:32333327 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013554 |
rs_587782871 |
3 SubmittersRCV000132495RCV000704969 |
|
NM_000059.4(BRCA2):c.5344C>G (p.Gln1782Glu)
|
SNV Germline |
Chr13:32339699 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022069 |
rs_80358757 |
3 SubmittersRCV000132502RCV001857470 |
|
NM_000059.4(BRCA2):c.6115T>A (p.Leu2039Ile)
|
SNV Germline |
Chr13:32340470 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA023669 |
rs_370026879 |
11 SubmittersRCV000132514RCV000468278RCV000663027RCV001200386RCV001260398 |
|
NM_000059.4(BRCA2):c.2258T>C (p.Phe753Ser)
|
SNV Germline |
Chr13:32336613 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA014783 |
rs_587782883 |
3 SubmittersRCV000132519RCV001205559 |
|
NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter)
|
SNV Germline/somatic |
Chr13:32370958 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA025681 |
rs_587776351 |
6 SubmittersRCV000257621RCV000143787RCV000759671RCV002512551RCV004601115 |
|
NM_000059.4(BRCA2):c.1340C>T (p.Pro447Leu)
|
SNV Germline |
Chr13:32332818 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA011674 |
rs_587776459 |
10 SubmittersRCV000144180RCV000509642RCV003328557RCV000502802RCV000795705RCV005359307 |
|
NM_000059.4(BRCA2):c.1444C>T (p.Leu482Phe)
|
SNV Germline |
Chr13:32332922 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA012054 |
rs_587776460 |
4 SubmittersRCV000144181RCV000817727RCV003157410 |
|
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu)
|
SNV Germline |
Chr13:32338070 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018644 |
rs_374191973 |
13 SubmittersRCV000144184RCV000160068RCV000575098RCV000537690RCV001704061RCV004532626RCV004804665 |
|
NM_000059.4(BRCA2):c.4391C>T (p.Ser1464Phe)
|
SNV Germline |
Chr13:32338746 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020084 |
rs_587776464 |
7 SubmittersRCV000144185RCV001849969RCV000584025 |
|
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)
|
SNV Germline |
Chr13:32339625 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA021909 |
rs_587776466 |
11 SubmittersRCV000144187RCV000164644RCV000173972RCV000232494RCV001192505RCV004804666RCV003492632 |
|
NM_000059.4(BRCA2):c.6044T>A (p.Leu2015Ter)
|
SNV Germline |
Chr13:32340399 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA023566 |
rs_587776468 |
5 SubmittersRCV000144189RCV000222461RCV001271043RCV004586567 |
|
NM_000059.4(BRCA2):c.7493A>C (p.Lys2498Thr)
|
SNV Germline |
Chr13:32356485 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025117 |
rs_587776469 |
6 SubmittersRCV000144190RCV000476388RCV002390301RCV004998290RCV004567161 |
|
NM_000059.4(BRCA2):c.8068G>A (p.Val2690Ile)
|
SNV Germline |
Chr13:32363270 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA025437 |
rs_587776471 |
5 SubmittersRCV000565764RCV000144192RCV000482878RCV000554038RCV005008046 |
|
NM_000059.4(BRCA2):c.8262T>G (p.His2754Gln)
|
SNV Germline |
Chr13:32363464 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025545 |
rs_587776472 |
11 SubmittersRCV000144193RCV000483045RCV000575580RCV000637765RCV004567162RCV001824645RCV004804667 |
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
SNV Germline |
Chr13:32394689 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer not specified |
Criteria Provided Conflicting Classifications |
CA026069 |
rs_574271678 |
12 SubmittersRCV000236803RCV000144196RCV000580829RCV000586031RCV000545556RCV003492633RCV002465535 |
|
NM_000059.4(BRCA2):c.9433G>A (p.Val3145Met)
|
SNV Germline |
Chr13:32394865 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA026154 |
rs_587776476 |
8 SubmittersRCV000217472RCV000227102RCV000144197RCV000486980RCV004532627 |
|
NM_000059.4(BRCA2):c.6257T>C (p.Ile2086Thr)
|
SNV Germline |
Chr13:32340612 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023791 |
rs_587783042 |
5 SubmittersRCV000144582RCV000704093RCV003157413RCV004998291 |
|
NM_000059.4(BRCA2):c.5035A>G (p.Thr1679Ala)
|
SNV Germline |
Chr13:32339390 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA021163 |
rs_80358728 |
5 SubmittersRCV000144584RCV000509635RCV000701101RCV004804670 |
|
NM_000059.4(BRCA2):c.5982A>T (p.Gln1994His)
|
SNV Germline |
Chr13:32340337 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023447 |
rs_587783043 |
4 SubmittersRCV000144585RCV003157415RCV001849970 |
|
NM_000059.4(BRCA2):c.3280A>T (p.Lys1094Ter)
|
SNV Germline |
Chr13:32337635 |
Pathogenic |
Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA017703 |
rs_690016539 |
2 SubmittersRCV000149512RCV000241256 |
|
NM_000059.4(BRCA2):c.107C>T (p.Ser36Phe)
|
SNV Germline |
Chr13:32319116 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA010765 |
rs_730881554 |
7 SubmittersRCV000590054RCV000510014RCV001320859RCV003462078RCV002265634RCV003998448 |
|
NM_000059.4(BRCA2):c.475+5G>T
|
SNV Germline |
Chr13:32326155 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020775 |
rs_730881504 |
4 SubmittersRCV000590329RCV003644913RCV002326917 |
|
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)
|
SNV Germline |
Chr13:32326499 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA021599 |
rs_397507768 |
13 SubmittersRCV000258488RCV000168537RCV000257907RCV000222599RCV000766596RCV001353967RCV003474823 |
|
NM_000059.4(BRCA2):c.680C>T (p.Ala227Val)
|
SNV Germline |
Chr13:32329491 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA024426 |
rs_149565664 |
8 SubmittersRCV000160026RCV000459299RCV002362849RCV003387778RCV003998436 |
|
NM_000059.4(BRCA2):c.848T>C (p.Ile283Thr)
|
SNV Germline |
Chr13:32332326 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025680 |
rs_730881507 |
4 SubmittersRCV000160031RCV001070424RCV002444664 |
|
NM_000059.4(BRCA2):c.902A>G (p.Asp301Gly)
|
SNV Germline |
Chr13:32332380 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025936 |
rs_730881508 |
6 SubmittersRCV000166054RCV000160032RCV000545109RCV002265633 |
|
NM_000059.4(BRCA2):c.1094C>T (p.Pro365Leu)
|
SNV Germline |
Chr13:32332572 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA010784 |
rs_730881578 |
8 SubmittersRCV000160181RCV000459920RCV000568907RCV001174590RCV004804697 |
|
NM_000059.4(BRCA2):c.1351A>G (p.Ser451Gly)
|
SNV Germline |
Chr13:32332829 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011700 |
rs_730881510 |
4 SubmittersRCV000160037RCV001011034RCV001850257 |
|
NM_000059.4(BRCA2):c.1624A>G (p.Ile542Val)
|
SNV Germline |
Chr13:32333102 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA012652 |
rs_730881511 |
8 SubmittersRCV000160039RCV000214296RCV000819175RCV005359352RCV004804689 |
|
NM_000059.4(BRCA2):c.1694C>T (p.Ala565Val)
|
SNV Germline |
Chr13:32333172 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related disorder Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA012916 |
rs_55821741 |
11 SubmittersRCV000199884RCV000509822RCV000586436RCV001706064RCV004535034RCV003998438 |
|
NM_000059.4(BRCA2):c.2162C>G (p.Pro721Arg)
|
SNV Germline |
Chr13:32336517 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA014489 |
rs_730881512 |
4 SubmittersRCV000160043RCV002426788RCV003765006 |
|
NM_000059.4(BRCA2):c.2206G>A (p.Ala736Thr)
|
SNV Germline |
Chr13:32336561 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA014584 |
rs_730881513 |
5 SubmittersRCV000160044RCV000781075RCV000551881RCV002426789 |
|
NM_000059.4(BRCA2):c.2446G>A (p.Glu816Lys)
|
SNV Germline |
Chr13:32336801 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA015314 |
rs_730881514 |
6 SubmittersRCV000160048RCV000637641RCV001015572RCV005237595 |
|
NM_000059.4(BRCA2):c.2714A>G (p.Asn905Ser)
|
SNV Germline |
Chr13:32337069 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA016153 |
rs_730881515 |
8 SubmittersRCV000160049RCV000165181RCV000411248RCV000541305RCV003317107 |
|
NM_000059.4(BRCA2):c.2810A>C (p.Gln937Pro)
|
SNV Germline |
Chr13:32337165 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition 8 conditions not specified |
Criteria Provided Conflicting Classifications |
CA016468 |
rs_730881516 |
10 SubmittersRCV000160050RCV000509647RCV000466542RCV004804690RCV005003507RCV005406856 |
|
NM_000059.4(BRCA2):c.2843T>C (p.Val948Ala)
|
SNV Germline |
Chr13:32337198 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA016605 |
rs_730881517 |
6 SubmittersRCV000542950RCV000781051RCV000570238RCV000662673 |
|
NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr)
|
SNV Germline |
Chr13:32337360 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified 8 conditions |
Criteria Provided Conflicting Classifications |
CA017026 |
rs_730881518 |
10 SubmittersRCV000160054RCV000225786RCV000219400RCV003235077RCV005008066 |
|
NM_000059.4(BRCA2):c.3083A>G (p.Lys1028Arg)
|
SNV Germline |
Chr13:32337438 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017201 |
rs_730881519 |
2 SubmittersRCV000160055RCV003157427 |
|
NM_000059.4(BRCA2):c.3154G>A (p.Ala1052Thr)
|
SNV Germline |
Chr13:32337509 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA017317 |
rs_730881520 |
6 SubmittersRCV000567319RCV000589646RCV002516426 |
|
NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter)
|
SNV Germline |
Chr13:32337527 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA017460 |
rs_730881521 |
9 SubmittersRCV000160058RCV000162052RCV000467920RCV002321671 |
|
NM_000059.4(BRCA2):c.3208G>A (p.Ala1070Thr)
|
SNV Germline |
Chr13:32337563 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017548 |
rs_372433502 |
4 SubmittersRCV000160059RCV000583270 |
|
NM_000059.4(BRCA2):c.3208G>T (p.Ala1070Ser)
|
SNV Germline |
Chr13:32337563 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA017554 |
rs_372433502 |
7 SubmittersRCV000160060RCV000166418RCV000524688RCV000781080RCV003998440 |
|
NM_000059.4(BRCA2):c.3351A>G (p.Ile1117Met)
|
SNV Germline |
Chr13:32337706 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA017825 |
rs_730881522 |
5 SubmittersRCV000160062RCV000165224RCV000198631 |
|
NM_000059.4(BRCA2):c.3382A>G (p.Thr1128Ala)
|
SNV Germline |
Chr13:32337737 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA017896 |
rs_730881523 |
9 SubmittersRCV000160063RCV000215811RCV000205030RCV000766610RCV004804691 |
|
NM_000059.4(BRCA2):c.3449C>G (p.Thr1150Ser)
|
SNV Germline |
Chr13:32337804 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA018054 |
rs_730881524 |
3 SubmittersRCV000160064RCV002453560 |
|
NM_000059.4(BRCA2):c.3676A>C (p.Lys1226Gln)
|
SNV Germline |
Chr13:32338031 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018533 |
rs_730881525 |
6 SubmittersRCV000160067RCV000781126RCV003157428RCV001850258RCV004804692 |
|
NM_000059.4(BRCA2):c.3731T>C (p.Ile1244Thr)
|
SNV Germline |
Chr13:32338086 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA018674 |
rs_730881526 |
9 SubmittersRCV000165364RCV000586904RCV000824375RCV003998442 |
|
NM_000059.4(BRCA2):c.3758C>T (p.Ala1253Val)
|
SNV Germline |
Chr13:32338113 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA018726 |
rs_730881527 |
5 SubmittersRCV000160070RCV000238817RCV002298486RCV003157429 |
|
NM_000059.4(BRCA2):c.3929C>T (p.Thr1310Ile)
|
SNV Germline |
Chr13:32338284 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA019205 |
rs_730881528 |
6 SubmittersRCV000160071RCV000509663RCV001223495RCV003998443 |
|
NM_000059.4(BRCA2):c.4079A>G (p.Asp1360Gly)
|
SNV Germline |
Chr13:32338434 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA019477 |
rs_730881529 |
4 SubmittersRCV000160073RCV002295284RCV003157430 |
|
NM_000059.4(BRCA2):c.4195T>C (p.Cys1399Arg)
|
SNV Germline |
Chr13:32338550 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019706 |
rs_730881530 |
4 SubmittersRCV000160074RCV000561378RCV001204737 |
|
NM_000059.4(BRCA2):c.4211C>T (p.Ser1404Leu)
|
SNV Germline |
Chr13:32338566 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA019726 |
rs_41293489 |
7 SubmittersRCV000160075RCV000637430RCV001022066RCV003493464 |
|
NM_000059.4(BRCA2):c.4279T>A (p.Phe1427Ile)
|
SNV Germline |
Chr13:32338634 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA019902 |
rs_730881531 |
5 SubmittersRCV000160076RCV002326918RCV001346631RCV004589673 |
|
NM_000059.4(BRCA2):c.4549A>G (p.Lys1517Glu)
|
SNV Germline |
Chr13:32338904 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA020401 |
rs_730881532 |
6 SubmittersRCV000160078RCV000575191RCV000541569RCV004804693 |
|
NM_000059.4(BRCA2):c.4781T>G (p.Met1594Arg)
|
SNV Germline |
Chr13:32339136 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020830 |
rs_730881533 |
4 SubmittersRCV000160079RCV001023038RCV003644914 |
|
NM_000059.4(BRCA2):c.4862G>T (p.Cys1621Phe)
|
SNV Germline |
Chr13:32339217 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA020932 |
rs_730881534 |
7 SubmittersRCV000160080RCV000572608RCV001038597RCV003998444 |
|
NM_000059.4(BRCA2):c.4981T>C (p.Tyr1661His)
|
SNV Germline |
Chr13:32339336 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021101 |
rs_730881535 |
5 SubmittersRCV000160081RCV000772753RCV001850259 |
|
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr)
|
SNV Germline |
Chr13:32339472 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021306 |
rs_730881536 |
10 SubmittersRCV000160082RCV000607894RCV000568700RCV001058918 |
|
NM_000059.4(BRCA2):c.5282G>C (p.Gly1761Ala)
|
SNV Germline |
Chr13:32339637 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA021942 |
rs_80358752 |
3 SubmittersRCV000160085RCV003157431 |
|
NM_000059.4(BRCA2):c.5329A>G (p.Lys1777Glu)
|
SNV Germline |
Chr13:32339684 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA022021 |
rs_730881537 |
3 SubmittersRCV000160086RCV001309197RCV003157432 |
|
NM_000059.4(BRCA2):c.5406A>C (p.Gln1802His)
|
SNV Germline |
Chr13:32339761 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related disorder BRCA2-related cancer predisposition not specified |
Criteria Provided Conflicting Classifications |
CA022262 |
rs_139302211 |
10 SubmittersRCV000165152RCV000766624RCV001308256RCV004724946RCV004804694RCV005406857 |
|
NM_000059.4(BRCA2):c.5418A>C (p.Glu1806Asp)
|
SNV Germline |
Chr13:32339773 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022284 |
rs_34351119 |
4 SubmittersRCV000160089RCV000573439RCV005089796 |
|
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro)
|
SNV Germline |
Chr13:32339999 |
Conflicting classifications of pathogenicity |
Breast and/or ovarian cancer Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022814 |
rs_730881538 |
9 SubmittersRCV000257958RCV000590236RCV000772756RCV000806443 |
|
NM_000059.4(BRCA2):c.5687C>A (p.Ala1896Glu)
|
SNV Germline |
Chr13:32340042 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA022984 |
rs_730881539 |
4 SubmittersRCV000160096RCV000168355RCV003157433 |
|
NM_000059.4(BRCA2):c.5741G>A (p.Ser1914Asn)
|
SNV Germline |
Chr13:32340096 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023121 |
rs_80358801 |
3 SubmittersRCV000160098RCV001051411RCV003157434 |
|
NM_000059.4(BRCA2):c.5763T>G (p.Phe1921Leu)
|
SNV Germline |
Chr13:32340118 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA023179 |
rs_730881540 |
9 SubmittersRCV000160101RCV000583693RCV001429569RCV003998446 |
|
NM_000059.4(BRCA2):c.5998T>G (p.Phe2000Val)
|
SNV Germline |
Chr13:32340353 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023484 |
rs_730881541 |
2 SubmittersRCV000505748RCV003157435 |
|
NM_000059.4(BRCA2):c.6140A>G (p.Tyr2047Cys)
|
SNV Germline |
Chr13:32340495 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023691 |
rs_730881542 |
5 SubmittersRCV000160109RCV000509812RCV001850260 |
|
NM_000059.4(BRCA2):c.6255A>T (p.Leu2085Phe)
|
SNV Germline |
Chr13:32340610 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA023790 |
rs_730881579 |
9 SubmittersRCV000160189RCV001025049RCV000817081RCV003998459RCV004586580 |
|
NM_000059.4(BRCA2):c.6500T>C (p.Leu2167Ser)
|
SNV Germline |
Chr13:32340855 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024119 |
rs_730881543 |
4 SubmittersRCV000160112RCV002362850RCV001850261 |
|
NM_000059.4(BRCA2):c.6538T>G (p.Leu2180Val)
|
SNV Germline |
Chr13:32340893 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024151 |
rs_730881544 |
5 SubmittersRCV000160113RCV001025383RCV001304815 |
|
NM_000059.4(BRCA2):c.6567C>A (p.Asn2189Lys)
|
SNV Germline |
Chr13:32340922 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024175 |
rs_397507374 |
9 SubmittersRCV000160114RCV000167273RCV000239150RCV000458192 |
|
NM_000059.4(BRCA2):c.6569T>C (p.Val2190Ala)
|
SNV Germline |
Chr13:32340924 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024186 |
rs_730881545 |
4 SubmittersRCV000160115RCV003157436RCV003644915 |
|
NM_000059.4(BRCA2):c.6614T>G (p.Val2205Gly)
|
SNV Germline |
Chr13:32340969 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA024214 |
rs_730881546 |
7 SubmittersRCV000160116RCV000509910RCV000637443RCV001553668 |
|
NM_000059.4(BRCA2):c.6652G>C (p.Asp2218His)
|
SNV Germline |
Chr13:32341007 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024261 |
rs_730881547 |
4 SubmittersRCV000160117RCV000509725RCV001210152 |
|
NM_000059.4(BRCA2):c.6685G>T (p.Glu2229Ter)
|
SNV Germline |
Chr13:32341040 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA024292 |
rs_730881548 |
5 SubmittersRCV000216038RCV000160118RCV000241410RCV001383215RCV004567200 |
|
NM_000059.4(BRCA2):c.6719T>A (p.Leu2240Gln)
|
SNV Germline |
Chr13:32341074 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA024326 |
rs_369452046 |
7 SubmittersRCV000160119RCV000706880RCV000570938RCV005420571 |
|
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)
|
SNV Germline |
Chr13:32341127 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast 8 conditions not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA024402 |
rs_730881549 |
12 SubmittersRCV000572828RCV000809521RCV000585930RCV002288677RCV005008067RCV003493465RCV003998447 |
|
NM_000059.4(BRCA2):c.7402G>A (p.Val2468Ile)
|
SNV Germline |
Chr13:32355255 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025055 |
rs_730881553 |
5 SubmittersRCV000160129RCV000217429RCV000538908RCV001199869 |
|
NM_000059.4(BRCA2):c.7684T>G (p.Phe2562Val)
|
SNV Germline |
Chr13:32357808 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025231 |
rs_80358995 |
2 SubmittersRCV000160138RCV000792172 |
|
NM_000059.4(BRCA2):c.7807G>A (p.Ala2603Thr)
|
SNV Germline |
Chr13:32362524 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025294 |
rs_730881560 |
3 SubmittersRCV000160143RCV001366270RCV002408717 |
|
NM_000059.4(BRCA2):c.7910C>T (p.Ala2637Val)
|
SNV Germline |
Chr13:32362627 |
Conflicting classifications of pathogenicity |
Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025329 |
rs_730881561 |
4 SubmittersRCV000160145RCV003462079RCV002415700RCV002515112 |
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
SNV Germline |
Chr13:32363194 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer 8 conditions BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025389 |
rs_80359800 |
12 SubmittersRCV000411343RCV000709332RCV000656803RCV000566432RCV003149970RCV000765140RCV004804695 |
|
NM_000059.4(BRCA2):c.8016A>G (p.Ile2672Met)
|
SNV Germline |
Chr13:32363218 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025407 |
rs_730881562 |
3 SubmittersRCV000166822RCV001308573RCV003998449 |
|
NM_000059.4(BRCA2):c.8157T>G (p.Ile2719Met)
|
SNV Germline |
Chr13:32363359 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025476 |
rs_730881563 |
4 SubmittersRCV000160149RCV000213185RCV003765007 |
|
NM_000059.4(BRCA2):c.8174G>A (p.Trp2725Ter)
|
SNV Germline/somatic |
Chr13:32363376 |
Pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder |
Reviewed By Expert Panel |
CA025488 |
rs_730881581 |
10 SubmittersRCV000160191RCV000460183RCV000241299RCV001190946RCV003332129 |
|
NM_000059.4(BRCA2):c.8179G>T (p.Ala2727Ser)
|
SNV Germline |
Chr13:32363381 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025492 |
rs_730881582 |
4 SubmittersRCV000160192RCV000232095RCV003474825RCV002426790 |
|
NM_000059.4(BRCA2):c.8204C>G (p.Pro2735Arg)
|
SNV Germline |
Chr13:32363406 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025509 |
rs_730881564 |
6 SubmittersRCV000160151RCV001027277RCV001042835RCV001262272RCV003998450 |
|
NM_000059.4(BRCA2):c.8569G>T (p.Ala2857Ser)
|
SNV Germline |
Chr13:32371037 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025713 |
rs_730881565 |
4 SubmittersRCV000160153RCV000216821RCV002304201 |
|
NM_000059.4(BRCA2):c.8825C>A (p.Ala2942Asp)
|
SNV Germline |
Chr13:32379387 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025839 |
rs_373227180 |
8 SubmittersRCV000160159RCV000166381RCV000781101RCV000693651RCV003462081RCV003998452 |
|
NM_000059.4(BRCA2):c.8978C>G (p.Ser2993Ter)
|
SNV Germline |
Chr13:32379774 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025911 |
rs_397508025 |
6 SubmittersRCV000221983RCV000160161RCV000241294RCV001041171 |
|
NM_000059.4(BRCA2):c.9057A>G (p.Lys3019=)
|
SNV Germline |
Chr13:32379853 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025946 |
rs_1799956 |
3 SubmittersRCV000160164RCV000693870RCV001018727 |
|
NM_000059.4(BRCA2):c.9161C>T (p.Pro3054Leu)
|
SNV Germline |
Chr13:32380050 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026011 |
rs_80359172 |
7 SubmittersRCV000160165RCV000690429RCV000573424RCV000766655RCV004804696 |
|
NM_000059.4(BRCA2):c.9290G>A (p.Cys3097Tyr)
|
SNV Germline |
Chr13:32394722 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA026090 |
rs_730881570 |
6 SubmittersRCV000160167RCV000206642RCV002288678RCV002372041RCV003998454 |
|
NM_000059.4(BRCA2):c.9296A>G (p.Asn3099Ser)
|
SNV Germline |
Chr13:32394728 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA026095 |
rs_730881571 |
5 SubmittersRCV000160168RCV000794362RCV001525933 |
|
NM_000059.4(BRCA2):c.9632C>A (p.Thr3211Lys)
|
SNV Germline |
Chr13:32397028 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA026240 |
rs_730881583 |
7 SubmittersRCV000160193RCV000163095RCV000472534RCV003462082RCV003998460RCV004700493 |
|
NM_000059.4(BRCA2):c.9648+1G>C
|
SNV Germline |
Chr13:32397045 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA026248 |
rs_730881573 |
7 SubmittersRCV000160176RCV000239346RCV000817530RCV002381526RCV003474824 |
|
NM_000059.4(BRCA2):c.9710G>A (p.Arg3237Lys)
|
SNV Germline |
Chr13:32398223 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA026277 |
rs_730881575 |
6 SubmittersRCV000160178RCV000166335RCV000530914RCV000781163RCV003998456 |
|
NM_000059.4(BRCA2):c.9753G>T (p.Lys3251Asn)
|
SNV Germline |
Chr13:32398266 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026291 |
rs_730881576 |
6 SubmittersRCV000160179RCV001019703RCV002516427RCV005420572RCV004806112 |
|
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys)
|
SNV Germline |
Chr13:32398763 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Hereditary cancer Condition: not provided |
Criteria Provided Conflicting Classifications |
CA010562 |
rs_730881600 |
7 SubmittersRCV000160263RCV000230091RCV000771295RCV003492647RCV003477575 |
|
NM_000059.4(BRCA2):c.1329G>T (p.Glu443Asp)
|
SNV Germline |
Chr13:32332807 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA011632 |
rs_73169186 |
5 SubmittersRCV000161925RCV000509920RCV004691776 |
|
NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter)
|
SNV Germline |
Chr13:32330949 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast |
Reviewed By Expert Panel |
CA024893 |
rs_56383036 |
4 SubmittersRCV000162051RCV001355867 |
|
NM_000059.4(BRCA2):c.7266T>A (p.Cys2422Ter)
|
SNV Germline |
Chr13:32355119 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA025006 |
rs_730882169 |
6 SubmittersRCV000162058RCV000580352RCV005089803 |
|
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)
|
SNV Germline |
Chr13:32316471 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA011150 |
rs_587782137 |
8 SubmittersRCV000167014RCV000637700RCV001280619RCV002250581RCV001356441 |
|
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)
|
SNV Germline |
Chr13:32316488 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA016728 |
rs_786203080 |
8 SubmittersRCV000166222RCV000470603RCV000586386RCV001171391RCV003995490RCV003474874 |
|
NM_000059.4(BRCA2):c.52C>T (p.Arg18Cys)
|
SNV Germline |
Chr13:32316512 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA021988 |
rs_786201560 |
6 SubmittersRCV000163880RCV000542286RCV000662989RCV000485328RCV004804723 |
|
NM_000059.4(BRCA2):c.68-3T>G
|
SNV Germline |
Chr13:32319074 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA024484 |
rs_786201770 |
9 SubmittersRCV000164231RCV001566570RCV003474853RCV000547977RCV004562347RCV003995328RCV001355586 |
|
NM_000059.4(BRCA2):c.68-2A>G
|
SNV Germline |
Chr13:32319075 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA024472 |
rs_769152395 |
6 SubmittersRCV000167275RCV000702378RCV000988980RCV005237627 |
|
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg)
|
SNV Germline |
Chr13:32319325 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided Fanconi anemia |
Criteria Provided Conflicting Classifications |
CA017418 |
rs_786201916 |
5 SubmittersRCV000164444RCV000637554RCV001729420RCV003441762RCV005055656 |
|
NM_000059.4(BRCA2):c.316+1G>T
|
SNV Germline |
Chr13:32319326 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA017366 |
rs_397507303 |
3 SubmittersRCV000165392RCV000508572 |
|
NM_000059.4(BRCA2):c.397C>A (p.Pro133Thr)
|
SNV Germline |
Chr13:32325156 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019322 |
rs_571823764 |
5 SubmittersRCV000164580RCV003321530RCV001723734RCV003607249RCV001299038 |
|
NM_000059.4(BRCA2):c.632-3C>A
|
SNV Germline |
Chr13:32329440 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA023901 |
rs_568027879 |
6 SubmittersRCV000165268RCV000464025RCV000507464RCV000766296RCV004804745 |
|
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)
|
SNV Germline |
Chr13:32332277 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Reviewed By Expert Panel |
CA025393 |
rs_786202796 |
6 SubmittersRCV000165786RCV000220294RCV000241277RCV000781052RCV004528914 |
|
NM_000059.4(BRCA2):c.1037A>T (p.Asn346Ile)
|
SNV Germline |
Chr13:32332515 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA010614 |
rs_786202042 |
3 SubmittersRCV000164652RCV001208262 |
|
NM_000059.4(BRCA2):c.1040A>C (p.Gln347Pro)
|
SNV Germline |
Chr13:32332518 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA010632 |
rs_55800493 |
4 SubmittersRCV000167323RCV000758856RCV001201830 |
|
NM_000059.4(BRCA2):c.1054T>C (p.Tyr352His)
|
SNV Germline |
Chr13:32332532 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA010685 |
rs_542343726 |
10 SubmittersRCV000167496RCV000470929RCV000485522RCV001697202RCV003995595 |
|
NM_000059.4(BRCA2):c.1131G>C (p.Glu377Asp)
|
SNV Germline |
Chr13:32332609 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA010906 |
rs_777845659 |
8 SubmittersRCV000166252RCV000758859RCV001420815RCV000560741RCV004804760 |
|
NM_000059.4(BRCA2):c.1246A>G (p.Ile416Val)
|
SNV Germline |
Chr13:32332724 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA011314 |
rs_786203710 |
6 SubmittersRCV000167130RCV000637526RCV001775653RCV003995563 |
|
NM_000059.4(BRCA2):c.1259A>G (p.Asp420Gly)
|
SNV Germline |
Chr13:32332737 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA011352 |
rs_786201654 |
9 SubmittersRCV000164047RCV000525169RCV000662878RCV005008073RCV001284074RCV005359458 |
|
NM_000059.4(BRCA2):c.1273G>A (p.Glu425Lys)
|
SNV Germline |
Chr13:32332751 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011416 |
rs_786203512 |
4 SubmittersRCV000166847RCV000705017 |
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
SNV Germline |
Chr13:32332760 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA011452 |
rs_547590567 |
7 SubmittersRCV000167165RCV000508325RCV000816899RCV001565649RCV003234772RCV000765131 |
|
NM_000059.4(BRCA2):c.1334C>A (p.Ser445Tyr)
|
SNV Germline |
Chr13:32332812 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011647 |
rs_786202373 |
4 SubmittersRCV000165146RCV001063054 |
|
NM_000059.4(BRCA2):c.1397A>G (p.Asn466Ser)
|
SNV Germline |
Chr13:32332875 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA011894 |
rs_370692951 |
6 SubmittersRCV000165400RCV001057061RCV001354133RCV000985464 |
|
NM_000059.4(BRCA2):c.1403G>A (p.Arg468Lys)
|
SNV Germline |
Chr13:32332881 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA011924 |
rs_786202940 |
3 SubmittersRCV000166015RCV000637522 |
|
NM_000059.4(BRCA2):c.1478C>T (p.Pro493Leu)
|
SNV Germline |
Chr13:32332956 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA012176 |
rs_786202916 |
10 SubmittersRCV000165981RCV000239257RCV000534241RCV000486205RCV000587856RCV001353888 |
|
NM_000059.4(BRCA2):c.1481T>C (p.Val494Ala)
|
SNV Germline |
Chr13:32332959 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012185 |
rs_786202205 |
5 SubmittersRCV000164909RCV002460941RCV003644922 |
|
NM_000059.4(BRCA2):c.1510T>C (p.Ser504Pro)
|
SNV Germline |
Chr13:32332988 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012264 |
rs_786203006 |
3 SubmittersRCV000166120RCV002516495 |
|
NM_000059.4(BRCA2):c.1543A>G (p.Thr515Ala)
|
SNV Germline |
Chr13:32333021 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA012345 |
rs_749469486 |
5 SubmittersRCV000166164RCV000548268RCV002254912RCV003995484 |
|
NM_000059.4(BRCA2):c.1544C>T (p.Thr515Ile)
|
SNV Germline |
Chr13:32333022 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA012351 |
rs_786202142 |
5 SubmittersRCV000164808RCV000419181RCV003644920RCV003995366 |
|
NM_000059.4(BRCA2):c.1598C>T (p.Thr533Ile)
|
SNV Germline |
Chr13:32333076 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA012581 |
rs_781763239 |
11 SubmittersRCV000166855RCV000804094RCV000662361RCV001818394RCV000586858RCV004804768 |
|
NM_000059.4(BRCA2):c.1627C>T (p.His543Tyr)
|
SNV Germline |
Chr13:32333105 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA012679 |
rs_80358446 |
6 SubmittersRCV000166042RCV001193751RCV001347556RCV000485437 |
|
NM_000059.4(BRCA2):c.1646A>G (p.Lys549Arg)
|
SNV Germline |
Chr13:32333124 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012761 |
rs_786203702 |
3 SubmittersRCV000167122RCV001300305 |
|
NM_000059.4(BRCA2):c.1660T>G (p.Cys554Gly)
|
SNV Germline |
Chr13:32333138 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA012813 |
rs_786202149 |
3 SubmittersRCV000164818RCV000759581 |
|
NM_000059.4(BRCA2):c.1669T>A (p.Leu557Ile)
|
SNV Germline |
Chr13:32333147 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012849 |
rs_786202150 |
4 SubmittersRCV000164819RCV002516467 |
|
NM_000059.4(BRCA2):c.1760C>G (p.Thr587Arg)
|
SNV Germline |
Chr13:32333238 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013115 |
rs_786203316 |
3 SubmittersRCV000166573RCV000553477 |
|
NM_000059.4(BRCA2):c.1771A>G (p.Ile591Val)
|
SNV Germline |
Chr13:32333249 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA013165 |
rs_786203548 |
6 SubmittersRCV000166907RCV000688840RCV003995544RCV001550389 |
|
NM_000059.4(BRCA2):c.1824C>G (p.Asp608Glu)
|
SNV Germline |
Chr13:32333302 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA013472 |
rs_786202186 |
5 SubmittersRCV000164885RCV001069188RCV002254911 |
|
NM_000059.4(BRCA2):c.1880C>G (p.Ala627Gly)
|
SNV Germline |
Chr13:32333358 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013695 |
rs_587782055 |
3 SubmittersRCV000166337RCV001296312 |
|
NM_000059.4(BRCA2):c.1908A>G (p.Ser636=)
|
SNV Germline |
Chr13:32333386 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013798 |
rs_786201892 |
2 SubmittersRCV000164410RCV000797794 |
|
NM_000059.4(BRCA2):c.1922C>T (p.Ser641Phe)
|
SNV Germline |
Chr13:32336277 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA013934 |
rs_786202360 |
5 SubmittersRCV000165127RCV003231349RCV001320851RCV003995395 |
|
NM_000059.4(BRCA2):c.1960G>T (p.Glu654Ter)
|
SNV Germline |
Chr13:32336315 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA014026 |
rs_786203845 |
2 SubmittersRCV000167330RCV000241155 |
|
NM_000059.4(BRCA2):c.1988T>C (p.Phe663Ser)
|
SNV Germline |
Chr13:32336343 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Conflicting Classifications |
CA014072 |
rs_552526845 |
6 SubmittersRCV000165107RCV000637410RCV004804740RCV004998330 |
|
NM_000059.4(BRCA2):c.2035A>T (p.Asn679Tyr)
|
SNV Germline |
Chr13:32336390 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA014176 |
rs_786202617 |
5 SubmittersRCV000165512RCV000806648RCV004732728RCV005420661 |
|
NM_000059.4(BRCA2):c.2224C>A (p.Gln742Lys)
|
SNV Germline |
Chr13:32336579 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA014659 |
rs_80358494 |
9 SubmittersRCV000164550RCV000531299RCV000590224RCV003995347 |
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
SNV Germline |
Chr13:32336586 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA014700 |
rs_397507282 |
7 SubmittersRCV000166823RCV000546053RCV002492673RCV001582657RCV005361026 |
|
NM_000059.4(BRCA2):c.2248G>C (p.Asp750His)
|
SNV Germline |
Chr13:32336603 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA014741 |
rs_773125650 |
6 SubmittersRCV000166180RCV000239212RCV001294823 |
|
NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly)
|
SNV Germline |
Chr13:32336685 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA014974 |
rs_780489283 |
9 SubmittersRCV000164609RCV000196448RCV000409339RCV000481454RCV001721063RCV001353765 |
|
NM_000059.4(BRCA2):c.2348T>G (p.Val783Gly)
|
SNV Germline |
Chr13:32336703 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA015013 |
rs_768143929 |
13 SubmittersRCV000167274RCV000559193RCV001174861RCV001283917RCV000238666RCV005361034RCV003150029 |
|
NM_000059.4(BRCA2):c.2380A>G (p.Met794Val)
|
SNV Germline |
Chr13:32336735 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA015089 |
rs_786203635 |
7 SubmittersRCV000167035RCV000505884RCV000688301RCV004804771 |
|
NM_000059.4(BRCA2):c.2443A>G (p.Met815Val)
|
SNV Germline |
Chr13:32336798 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA015297 |
rs_786203814 |
9 SubmittersRCV000167284RCV000456518RCV001582658RCV001823121RCV000410955 |
|
NM_000059.4(BRCA2):c.2489A>G (p.Asn830Ser)
|
SNV Germline |
Chr13:32336844 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015453 |
rs_786202809 |
3 SubmittersRCV000165820RCV005089815 |
|
NM_000059.4(BRCA2):c.2494G>T (p.Glu832Ter)
|
SNV Germline |
Chr13:32336849 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA015478 |
rs_786202875 |
2 SubmittersRCV000165924RCV000241463 |
|
NM_000059.4(BRCA2):c.2545G>T (p.Val849Leu)
|
SNV Germline |
Chr13:32336900 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA015610 |
rs_786202105 |
3 SubmittersRCV000164752RCV001824650 |
|
NM_000059.4(BRCA2):c.2578A>G (p.Ile860Val)
|
SNV Germline |
Chr13:32336933 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA015675 |
rs_786202072 |
5 SubmittersRCV000164704RCV001045248RCV005600775 |
|
NM_000059.4(BRCA2):c.2612C>G (p.Ser871Ter)
|
SNV Germline |
Chr13:32336967 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA015833 |
rs_397507634 |
5 SubmittersRCV000167495RCV000241282RCV000255430RCV001060547RCV005361042 |
|
NM_000059.4(BRCA2):c.2629C>T (p.Pro877Ser)
|
SNV Germline |
Chr13:32336984 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA015901 |
rs_80358524 |
3 SubmittersRCV000167199RCV002298497 |
|
NM_000059.4(BRCA2):c.2679A>G (p.Gln893=)
|
SNV Germline |
Chr13:32337034 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA016024 |
rs_786203640 |
6 SubmittersRCV000167041RCV000506813RCV001062992RCV002478517RCV003995550 |
|
NM_000059.4(BRCA2):c.2683G>A (p.Ala895Thr)
|
SNV Germline |
Chr13:32337038 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA016049 |
rs_786203045 |
8 SubmittersRCV000166179RCV000548524RCV001800497RCV000239250RCV001175564 |
|
NM_000059.4(BRCA2):c.2683G>T (p.Ala895Ser)
|
SNV Germline |
Chr13:32337038 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA016058 |
rs_786203045 |
5 SubmittersRCV000166570RCV001224927RCV001775652 |
|
NM_000059.4(BRCA2):c.2704G>C (p.Ala902Pro)
|
SNV Germline |
Chr13:32337059 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA016149 |
rs_768648043 |
5 SubmittersRCV000166055RCV000802958RCV003995474 |
|
NM_000059.4(BRCA2):c.2723A>C (p.Glu908Ala)
|
SNV Germline |
Chr13:32337078 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA016168 |
rs_786202254 |
5 SubmittersRCV000164972RCV000792719RCV004998327 |
|
NM_000059.4(BRCA2):c.2744C>G (p.Thr915Ser)
|
SNV Germline |
Chr13:32337099 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016236 |
rs_786202795 |
3 SubmittersRCV000165784RCV000476860 |
|
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)
|
SNV Germline |
Chr13:32337134 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA016339 |
rs_786201837 |
12 SubmittersRCV000164328RCV000426572RCV000525226RCV000588268RCV000663056RCV001262846 |
|
NM_000059.4(BRCA2):c.2807A>G (p.Lys936Arg)
|
SNV Germline |
Chr13:32337162 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA016431 |
rs_786201753 |
3 SubmittersRCV000164206RCV000706256 |
|
NM_000059.4(BRCA2):c.2881C>G (p.Gln961Glu)
|
SNV Germline |
Chr13:32337236 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA016663 |
rs_80358538 |
7 SubmittersRCV000164804RCV001370609RCV000985489RCV001192685 |
|
NM_000059.4(BRCA2):c.2900T>C (p.Leu967Pro)
|
SNV Germline |
Chr13:32337255 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA016735 |
rs_786202161 |
5 SubmittersRCV000164842RCV000637332RCV003995369 |
|
NM_000059.4(BRCA2):c.3068A>G (p.Asn1023Ser)
|
SNV Germline |
Chr13:32337423 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA017138 |
rs_776196396 |
6 SubmittersRCV000165158RCV000637766RCV001775643RCV003995396 |
|
NM_000059.4(BRCA2):c.3199A>G (p.Thr1067Ala)
|
SNV Germline |
Chr13:32337554 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA017521 |
rs_786203711 |
3 SubmittersRCV000167131RCV000699510 |
|
NM_000059.4(BRCA2):c.3304A>C (p.Asn1102His)
|
SNV Germline |
Chr13:32337659 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017752 |
rs_28897719 |
2 SubmittersRCV000165459 |
|
NM_000059.4(BRCA2):c.3383C>T (p.Thr1128Ile)
|
SNV Germline |
Chr13:32337738 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA017902 |
rs_786202970 |
4 SubmittersRCV000166058RCV004998343RCV005089818 |
|
NM_000059.4(BRCA2):c.3397C>T (p.Pro1133Ser)
|
SNV Germline |
Chr13:32337752 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA017933 |
rs_786202430 |
6 SubmittersRCV000165239RCV000227293RCV001762376RCV003137693 |
|
NM_000059.4(BRCA2):c.3461C>T (p.Thr1154Ile)
|
SNV Germline |
Chr13:32337816 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA018115 |
rs_786202212 |
2 SubmittersRCV000164925 |
|
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)
|
SNV Germline |
Chr13:32337852 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA018181 |
rs_762886975 |
7 SubmittersRCV000166339RCV000309640RCV000366646RCV001094081RCV001356826RCV004692777 |
|
NM_000059.4(BRCA2):c.3532A>G (p.Ser1178Gly)
|
SNV Germline |
Chr13:32337887 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA018276 |
rs_41293481 |
3 SubmittersRCV000164836RCV001223685 |
|
NM_000059.4(BRCA2):c.3553A>G (p.Thr1185Ala)
|
SNV Germline |
Chr13:32337908 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA018312 |
rs_786202485 |
5 SubmittersRCV000165322RCV000686649RCV004535110RCV003995411 |
|
NM_000059.4(BRCA2):c.3667C>T (p.His1223Tyr)
|
SNV Germline |
Chr13:32338022 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA018502 |
rs_786203756 |
8 SubmittersRCV000167201RCV000535786RCV000780008RCV000412156RCV004998357RCV004804772 |
|
NM_000059.4(BRCA2):c.3683A>G (p.Asn1228Ser)
|
SNV Germline |
Chr13:32338038 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA018570 |
rs_786202838 |
2 SubmittersRCV000165858 |
|
NM_000059.4(BRCA2):c.3685G>A (p.Val1229Ile)
|
SNV Germline |
Chr13:32338040 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA018583 |
rs_786203538 |
4 SubmittersRCV000166889RCV001216937RCV001539347 |
|
NM_000059.4(BRCA2):c.3730A>G (p.Ile1244Val)
|
SNV Germline |
Chr13:32338085 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA018673 |
rs_786202091 |
3 SubmittersRCV000164731RCV001326767 |
|
NM_000059.4(BRCA2):c.3865A>G (p.Lys1289Glu)
|
SNV Germline |
Chr13:32338220 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA019026 |
rs_786201943 |
7 SubmittersRCV000164489RCV000701526RCV004804734RCV000758888RCV003483534 |
|
NM_000059.4(BRCA2):c.3987A>T (p.Arg1329Ser)
|
SNV Germline |
Chr13:32338342 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA019337 |
rs_786203361 |
7 SubmittersRCV000166638RCV000236432RCV000466166RCV003995521RCV004535127 |
|
NM_000059.4(BRCA2):c.4109G>C (p.Gly1370Ala)
|
SNV Germline |
Chr13:32338464 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA019538 |
rs_587781406 |
7 SubmittersRCV000165589RCV000536926RCV001800494RCV003398848RCV004804750 |
|
NM_000059.4(BRCA2):c.4116T>G (p.Phe1372Leu)
|
SNV Germline |
Chr13:32338471 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019554 |
rs_786203478 |
4 SubmittersRCV000166797RCV005089828 |
|
NM_000059.4(BRCA2):c.4232C>G (p.Ala1411Gly)
|
SNV Germline |
Chr13:32338587 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019754 |
rs_786203320 |
3 SubmittersRCV000166581RCV001204251 |
|
NM_000059.4(BRCA2):c.4246C>T (p.Gln1416Ter)
|
SNV Germline |
Chr13:32338601 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA019781 |
rs_786202421 |
2 SubmittersRCV000165228RCV000241289 |
|
NM_000059.4(BRCA2):c.4312G>A (p.Val1438Ile)
|
SNV Germline |
Chr13:32338667 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA019946 |
rs_786202874 |
6 SubmittersRCV000165922RCV000411249RCV000677852RCV003765037 |
|
NM_000059.4(BRCA2):c.4333A>G (p.Lys1445Glu)
|
SNV Germline |
Chr13:32338688 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020001 |
rs_786203291 |
3 SubmittersRCV000166532RCV002515163 |
|
NM_000059.4(BRCA2):c.4412G>T (p.Arg1471Ile)
|
SNV Germline |
Chr13:32338767 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA020137 |
rs_786203839 |
5 SubmittersRCV000167319RCV000461661RCV000590203RCV003235087 |
|
NM_000059.4(BRCA2):c.4464C>A (p.His1488Gln)
|
SNV Germline |
Chr13:32338819 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA020215 |
rs_786203743 |
7 SubmittersRCV000167179RCV000814203RCV001284425RCV003398856RCV004528919 |
|
NM_000059.4(BRCA2):c.4546A>C (p.Ile1516Leu)
|
SNV Germline |
Chr13:32338901 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA020388 |
rs_786202983 |
2 SubmittersRCV000166079 |
|
NM_000059.4(BRCA2):c.4611A>C (p.Glu1537Asp)
|
SNV Germline |
Chr13:32338966 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided 8 conditions |
Criteria Provided Conflicting Classifications |
CA020539 |
rs_786202313 |
8 SubmittersRCV000165057RCV000535631RCV003995385RCV000679174RCV005008076 |
|
NM_000059.4(BRCA2):c.4759G>A (p.Ala1587Thr)
|
SNV Germline |
Chr13:32339114 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020778 |
rs_56137239 |
8 SubmittersRCV000166660RCV000412143RCV000781116RCV000690936RCV000236670 |
|
NM_000059.4(BRCA2):c.4784A>C (p.Gln1595Pro)
|
SNV Germline |
Chr13:32339139 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA020833 |
rs_786201184 |
5 SubmittersRCV000163035RCV000203834RCV005246684 |
|
NM_000059.4(BRCA2):c.4795A>G (p.Asn1599Asp)
|
SNV Germline |
Chr13:32339150 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA020839 |
rs_786202703 |
3 SubmittersRCV000165644RCV000695549 |
|
NM_000059.4(BRCA2):c.4813G>A (p.Val1605Ile)
|
SNV Germline |
Chr13:32339168 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA020865 |
rs_786201175 |
7 SubmittersRCV000162834RCV000221573RCV000637639RCV003315984 |
|
NM_000059.4(BRCA2):c.4942G>A (p.Ala1648Thr)
|
SNV Germline |
Chr13:32339297 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA021048 |
rs_786202248 |
8 SubmittersRCV000164966RCV000239162RCV000769698RCV000637534RCV002466457 |
|
NM_000059.4(BRCA2):c.4969A>C (p.Asn1657His)
|
SNV Germline |
Chr13:32339324 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA021077 |
rs_587781599 |
5 SubmittersRCV000165819RCV000474260RCV001753563RCV004535120 |
|
NM_000059.4(BRCA2):c.5023T>C (p.Cys1675Arg)
|
SNV Germline |
Chr13:32339378 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided 8 conditions |
Criteria Provided Conflicting Classifications |
CA021140 |
rs_786201420 |
7 SubmittersRCV000163597RCV000534065RCV001775641RCV005008072 |
|
NM_000059.4(BRCA2):c.5026A>C (p.Ser1676Arg)
|
SNV Germline |
Chr13:32339381 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021146 |
rs_786203719 |
3 SubmittersRCV000167143RCV000814106 |
|
NM_000059.4(BRCA2):c.5080A>G (p.Arg1694Gly)
|
SNV Germline |
Chr13:32339435 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA021217 |
rs_200265692 |
3 SubmittersRCV000165787RCV005625348 |
|
NM_000059.4(BRCA2):c.5081G>C (p.Arg1694Thr)
|
SNV Germline |
Chr13:32339436 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA021223 |
rs_753721331 |
7 SubmittersRCV000167215RCV001798599RCV001850363RCV002267921 |
|
NM_000059.4(BRCA2):c.5120C>T (p.Thr1707Ile)
|
SNV Germline |
Chr13:32339475 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA021317 |
rs_786202354 |
7 SubmittersRCV000165119RCV000479876RCV000989036RCV000709315RCV000767034 |
|
NM_000059.4(BRCA2):c.5126A>C (p.Asp1709Ala)
|
SNV Germline |
Chr13:32339481 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA021338 |
rs_786202836 |
10 SubmittersRCV000165854RCV000236825RCV000637498RCV005008080RCV003995460 |
|
NM_000059.4(BRCA2):c.5195T>C (p.Leu1732Pro)
|
SNV Germline |
Chr13:32339550 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021653 |
rs_786202208 |
3 SubmittersRCV000164917RCV000558082 |
|
NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys)
|
SNV Germline |
Chr13:32339555 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA021678 |
rs_786202543 |
11 SubmittersRCV000165399RCV000205413RCV000485722RCV005359506RCV001804894RCV003153445 |
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
SNV Germline |
Chr13:32339575 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided 8 conditions |
Criteria Provided Conflicting Classifications |
CA021766 |
rs_750671399 |
9 SubmittersRCV000166604RCV001234607RCV003995516RCV003329247RCV002485034 |
|
NM_000059.4(BRCA2):c.5233A>G (p.Met1745Val)
|
SNV Germline |
Chr13:32339588 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA021819 |
rs_786202206 |
4 SubmittersRCV000164911RCV000792468 |
|
NM_000059.4(BRCA2):c.5321C>T (p.Pro1774Leu)
|
SNV Germline |
Chr13:32339676 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022016 |
rs_786203835 |
4 SubmittersRCV000167315RCV000637795 |
|
NM_000059.4(BRCA2):c.5345A>C (p.Gln1782Pro)
|
SNV Germline |
Chr13:32339700 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA022082 |
rs_758959174 |
6 SubmittersRCV000164770RCV001213972RCV001550935RCV005359488RCV003995364 |
|
NM_000059.4(BRCA2):c.5353A>G (p.Thr1785Ala)
|
SNV Germline |
Chr13:32339708 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA022130 |
rs_786202394 |
8 SubmittersRCV000467313RCV000772755RCV000985544RCV001193882RCV003995398RCV005008077 |
|
NM_000059.4(BRCA2):c.5535G>C (p.Arg1845Ser)
|
SNV Germline |
Chr13:32339890 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA022501 |
rs_786201997 |
5 SubmittersRCV000164573RCV000637602RCV004998323 |
|
NM_000059.4(BRCA2):c.5537T>C (p.Ile1846Thr)
|
SNV Germline |
Chr13:32339892 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA022511 |
rs_763330257 |
6 SubmittersRCV000165182RCV003316038RCV001207899RCV001812144RCV004804744 |
|
NM_000059.4(BRCA2):c.5591A>G (p.Asp1864Gly)
|
SNV Germline |
Chr13:32339946 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA022654 |
rs_786202808 |
4 SubmittersRCV000165818RCV000820675RCV000412174 |
|
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys)
|
SNV Germline |
Chr13:32339981 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA022738 |
rs_397507793 |
8 SubmittersRCV000164837RCV000637513RCV001824652RCV003995368RCV000758910 |
|
NM_000059.4(BRCA2):c.5635G>T (p.Glu1879Ter)
|
SNV Germline |
Chr13:32339990 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Gastric cancer Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA022785 |
rs_55996097 |
11 SubmittersRCV000165477RCV000241263RCV000508159RCV003162701RCV000706650RCV003474867 |
|
NM_000059.4(BRCA2):c.5659A>G (p.Thr1887Ala)
|
SNV Germline |
Chr13:32340014 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA022882 |
rs_786202618 |
8 SubmittersRCV000165513RCV000553184RCV000436206RCV003995422RCV005008078 |
|
NM_000059.4(BRCA2):c.5674G>A (p.Gly1892Ser)
|
SNV Germline |
Chr13:32340029 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA022938 |
rs_786203948 |
8 SubmittersRCV000167472RCV000695914RCV000985549RCV000989041RCV001255551 |
|
NM_000059.4(BRCA2):c.5677T>G (p.Cys1893Gly)
|
SNV Germline |
Chr13:32340032 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA022949 |
rs_786203261 |
7 SubmittersRCV000166490RCV000504158RCV003483544RCV001850344 |
|
NM_000059.4(BRCA2):c.5702A>T (p.Glu1901Val)
|
SNV Germline |
Chr13:32340057 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA023011 |
rs_773600818 |
12 SubmittersRCV000166961RCV000663324RCV000531229RCV002464137RCV005361029RCV004700512 |
|
NM_000059.4(BRCA2):c.5704G>T (p.Asp1902Tyr)
|
SNV Germline |
Chr13:32340059 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023017 |
rs_4987048 |
6 SubmittersRCV000167499RCV000236520RCV000696829 |
|
NM_000059.4(BRCA2):c.5778T>A (p.Ser1926Arg)
|
SNV Germline |
Chr13:32340133 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023215 |
rs_772324268 |
3 SubmittersRCV000164880RCV003644921 |
|
NM_000059.4(BRCA2):c.5792A>G (p.Gln1931Arg)
|
SNV Germline |
Chr13:32340147 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023244 |
rs_786202537 |
6 SubmittersRCV000165387RCV001233270RCV004804748RCV005256572 |
|
NM_000059.4(BRCA2):c.5796T>A (p.His1932Gln)
|
SNV Germline |
Chr13:32340151 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023252 |
rs_786203515 |
3 SubmittersRCV000166852RCV001325508 |
|
NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile)
|
SNV Germline |
Chr13:32340163 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified BRCA2-related disorder Familial cancer of breast Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA023262 |
rs_759138390 |
15 SubmittersRCV000165123RCV000457784RCV000663021RCV001283931RCV001818377RCV004732726RCV005411361RCV005359500 |
|
NM_000059.4(BRCA2):c.5987C>G (p.Ala1996Gly)
|
SNV Germline |
Chr13:32340342 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA023462 |
rs_80358834 |
7 SubmittersRCV000167386RCV001301365RCV003150032RCV003607254RCV005361037 |
|
NM_000059.4(BRCA2):c.5993A>C (p.Gln1998Pro)
|
SNV Germline |
Chr13:32340348 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023474 |
rs_80358835 |
4 SubmittersRCV000164697RCV000758916RCV002515145 |
|
NM_000059.4(BRCA2):c.6062A>G (p.His2021Arg)
|
SNV Germline |
Chr13:32340417 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA023588 |
rs_780621780 |
7 SubmittersRCV000165232RCV000588995RCV001364172RCV003483536 |
|
NM_000059.4(BRCA2):c.6094G>A (p.Ala2032Thr)
|
SNV Germline |
Chr13:32340449 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023640 |
rs_786203284 |
3 SubmittersRCV000166519RCV000703786 |
|
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val)
|
SNV Germline |
Chr13:32340450 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Hereditary cancer Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA023642 |
rs_786202701 |
8 SubmittersRCV000165642RCV000229460RCV003491902RCV001284097RCV003995442 |
|
NM_000059.4(BRCA2):c.6113A>G (p.His2038Arg)
|
SNV Germline |
Chr13:32340468 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023665 |
rs_786203039 |
6 SubmittersRCV000166172RCV003477625RCV004689640RCV000702688 |
|
NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter)
|
SNV Germline |
Chr13:32340510 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA023704 |
rs_786202461 |
7 SubmittersRCV000165281RCV000241265RCV000758921RCV003462167RCV001047465 |
|
NM_000059.4(BRCA2):c.6160G>A (p.Ala2054Thr)
|
SNV Germline |
Chr13:32340515 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA023706 |
rs_80358855 |
6 SubmittersRCV000167216RCV001850364RCV002267922 |
|
NM_000059.4(BRCA2):c.6253T>G (p.Leu2085Val)
|
SNV Germline |
Chr13:32340608 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA023788 |
rs_761996223 |
5 SubmittersRCV000165245RCV001850313RCV004797787 |
|
NM_000059.4(BRCA2):c.6374C>T (p.Thr2125Ile)
|
SNV Germline |
Chr13:32340729 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023963 |
rs_776937022 |
2 SubmittersRCV000167283 |
|
NM_000059.4(BRCA2):c.6445A>G (p.Ile2149Val)
|
SNV Germline |
Chr13:32340800 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024052 |
rs_786202013 |
3 SubmittersRCV000164603RCV001337627 |
|
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe)
|
SNV Germline |
Chr13:32340822 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA024085 |
rs_765575482 |
9 SubmittersRCV000165921RCV000227586RCV003607252RCV001726015RCV000663149RCV001269137 |
|
NM_000059.4(BRCA2):c.6475C>T (p.Gln2159Ter)
|
SNV Germline |
Chr13:32340830 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA024094 |
rs_398122558 |
2 SubmittersRCV000166433RCV000225554 |
|
NM_000059.4(BRCA2):c.6482A>G (p.Asp2161Gly)
|
SNV Germline |
Chr13:32340837 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024097 |
rs_786201744 |
5 SubmittersRCV000164193RCV001582645RCV001071522 |
|
NM_000059.4(BRCA2):c.6497T>C (p.Val2166Ala)
|
SNV Germline |
Chr13:32340852 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024117 |
rs_786202572 |
3 SubmittersRCV000165437RCV002516481 |
|
NM_000059.4(BRCA2):c.6553G>A (p.Ala2185Thr)
|
SNV Germline |
Chr13:32340908 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024164 |
rs_746070652 |
4 SubmittersRCV000165385RCV000637749RCV001580461 |
|
NM_000059.4(BRCA2):c.6674C>A (p.Thr2225Lys)
|
SNV Germline |
Chr13:32341029 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA024275 |
rs_786203437 |
2 SubmittersRCV000166740 |
|
NM_000059.4(BRCA2):c.6691G>A (p.Ala2231Thr)
|
SNV Germline |
Chr13:32341046 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition 8 conditions |
Criteria Provided Conflicting Classifications |
CA024298 |
rs_758379999 |
9 SubmittersRCV000166928RCV000637506RCV000589983RCV004804769RCV005008083 |
|
NM_000059.4(BRCA2):c.6694A>G (p.Lys2232Glu)
|
SNV Germline |
Chr13:32341049 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA024303 |
rs_781219481 |
3 SubmittersRCV000164702RCV001364516 |
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
SNV Germline |
Chr13:32341050 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition 8 conditions |
Criteria Provided Conflicting Classifications |
CA024305 |
rs_786203098 |
6 SubmittersRCV000166254RCV000818545RCV004760413RCV004804761RCV002492668 |
|
NM_000059.4(BRCA2):c.6724G>A (p.Asp2242Asn)
|
SNV Germline |
Chr13:32341079 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA024342 |
rs_786202002 |
7 SubmittersRCV000164581RCV000542638RCV000590771RCV003493472RCV005359482 |
|
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr)
|
SNV Germline |
Chr13:32341116 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Malignant tumor of breast Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA024385 |
rs_786202915 |
13 SubmittersRCV000165980RCV000238769RCV000479534RCV000530254RCV000735581RCV001354021RCV000587444RCV004804756 |
|
NM_000059.4(BRCA2):c.6829C>T (p.Leu2277Phe)
|
SNV Germline |
Chr13:32341184 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA024470 |
rs_786202214 |
8 SubmittersRCV000164928RCV000702609RCV005008075RCV001201234RCV003322754 |
|
NM_000059.4(BRCA2):c.7373A>G (p.Asn2458Ser)
|
SNV Germline |
Chr13:32355226 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025045 |
rs_786202262 |
3 SubmittersRCV000164985RCV000476898 |
|
NM_000059.4(BRCA2):c.7411A>G (p.Thr2471Ala)
|
SNV Germline |
Chr13:32355264 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025061 |
rs_771087264 |
5 SubmittersRCV000165920RCV000527397RCV003987384RCV004589778 |
|
NM_000059.4(BRCA2):c.7417T>C (p.Cys2473Arg)
|
SNV Germline |
Chr13:32355270 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025070 |
rs_786202720 |
3 SubmittersRCV000165673RCV001092808RCV000694064 |
|
NM_000059.4(BRCA2):c.7429C>A (p.Pro2477Thr)
|
SNV Germline |
Chr13:32355282 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025075 |
rs_80358964 |
5 SubmittersRCV000165122RCV000531294RCV000656619RCV004804741 |
|
NM_000059.4(BRCA2):c.7457A>G (p.Asn2486Ser)
|
SNV Germline |
Chr13:32356449 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025096 |
rs_786203755 |
8 SubmittersRCV000167198RCV000255521RCV000637396RCV003454420RCV004567333 |
|
NM_000059.4(BRCA2):c.7499G>A (p.Arg2500Lys)
|
SNV Germline |
Chr13:32356491 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025118 |
rs_80358976 |
4 SubmittersRCV000166203RCV000794184RCV000989065RCV004804759 |
|
NM_000059.4(BRCA2):c.7508T>A (p.Val2503Asp)
|
SNV Germline |
Chr13:32356500 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025125 |
rs_786203292 |
3 SubmittersRCV000166533RCV001284440RCV003644925 |
|
NM_000059.4(BRCA2):c.7559G>T (p.Arg2520Leu)
|
SNV Germline |
Chr13:32356551 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025149 |
rs_80358982 |
3 SubmittersRCV000166867RCV000637575 |
|
NM_000059.4(BRCA2):c.7573G>A (p.Ala2525Thr)
|
SNV Germline |
Chr13:32356565 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025160 |
rs_786203133 |
2 SubmittersRCV000166307RCV001316025 |
|
NM_000059.4(BRCA2):c.7590A>C (p.Gln2530His)
|
SNV Germline |
Chr13:32356582 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025165 |
rs_786202429 |
3 SubmittersRCV000165237RCV003644923 |
|
NM_000059.4(BRCA2):c.7604G>A (p.Cys2535Tyr)
|
SNV Germline |
Chr13:32356596 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025177 |
rs_786203482 |
5 SubmittersRCV000166802RCV000507296RCV000809247RCV004019989 |
|
NM_000059.4(BRCA2):c.7718T>G (p.Leu2573Ter)
|
SNV Germline |
Chr13:32357842 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA025244 |
rs_786203680 |
2 SubmittersRCV000167091RCV000241252 |
|
NM_000059.4(BRCA2):c.7720T>C (p.Trp2574Arg)
|
SNV Germline |
Chr13:32357844 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025246 |
rs_755002206 |
2 SubmittersRCV000164502RCV001339508 |
|
NM_000059.4(BRCA2):c.7769C>G (p.Ser2590Cys)
|
SNV Germline |
Chr13:32357893 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025269 |
rs_786202615 |
6 SubmittersRCV000165510RCV001038015RCV001262737RCV001193172RCV003995421 |
|
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)
|
SNV Germline |
Chr13:32357926 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025278 |
rs_786202344 |
3 SubmittersRCV000165105RCV000227777RCV001171447 |
|
NM_000059.4(BRCA2):c.7901T>C (p.Met2634Thr)
|
SNV Germline |
Chr13:32362618 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025326 |
rs_786202102 |
2 SubmittersRCV000164748RCV001338140 |
|
NM_000059.4(BRCA2):c.7914T>G (p.Phe2638Leu)
|
SNV Germline |
Chr13:32362631 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA025332 |
rs_764248927 |
8 SubmittersRCV000167304RCV000480378RCV000533964RCV001355608RCV003474888RCV003493478 |
|
NM_000059.4(BRCA2):c.7915C>A (p.Pro2639Thr)
|
SNV Germline |
Chr13:32362632 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA025333 |
rs_80359017 |
2 SubmittersRCV000165526 |
|
NM_000059.4(BRCA2):c.7939C>G (p.Leu2647Val)
|
SNV Germline |
Chr13:32362656 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA025345 |
rs_778391123 |
7 SubmittersRCV000165643RCV000731869RCV000466343RCV003387782 |
|
NM_000059.4(BRCA2):c.7972T>C (p.Tyr2658His)
|
SNV Germline |
Chr13:32362689 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025360 |
rs_786202719 |
2 SubmittersRCV000165671RCV000529353 |
|
NM_000059.4(BRCA2):c.7976+5G>A
|
SNV Germline |
Chr13:32362698 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA025367 |
rs_786201180 |
8 SubmittersRCV000162937RCV000258212RCV000496302RCV000586885RCV000637349 |
|
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met)
|
SNV Germline |
Chr13:32363187 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA025383 |
rs_431825362 |
11 SubmittersRCV000163213RCV000588790RCV000989069RCV001081809RCV001175366RCV005365064RCV004700499 |
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
SNV Germline |
Chr13:32363209 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome 8 conditions Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025398 |
rs_143999963 |
6 SubmittersRCV000163073RCV000765141RCV001753553RCV000637317RCV004567230 |
|
NM_000059.4(BRCA2):c.8011G>T (p.Ala2671Ser)
|
SNV Germline |
Chr13:32363213 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial pancreatic carcinoma not specified |
Criteria Provided Conflicting Classifications |
CA025405 |
rs_786201976 |
7 SubmittersRCV000164537RCV001207806RCV001800483RCV005359478RCV005406866 |
|
NM_000059.4(BRCA2):c.8233C>G (p.Leu2745Val)
|
SNV Germline |
Chr13:32363435 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025530 |
rs_786201752 |
3 SubmittersRCV000164205RCV003530000 |
|
NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly)
|
SNV Germline |
Chr13:32363495 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025552 |
rs_768247528 |
11 SubmittersRCV000165936RCV000226067RCV000478794RCV001193319RCV000239098RCV004567290 |
|
NM_000059.4(BRCA2):c.8317T>C (p.Ser2773Pro)
|
SNV Germline |
Chr13:32363519 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025567 |
rs_143761565 |
3 SubmittersRCV000164532RCV001303249RCV003462139 |
|
NM_000059.4(BRCA2):c.8321T>G (p.Leu2774Arg)
|
SNV Germline |
Chr13:32363523 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025569 |
rs_786203278 |
2 SubmittersRCV000166512RCV000553827 |
|
NM_000059.4(BRCA2):c.8332-1G>T
|
SNV Germline |
Chr13:32370401 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA025584 |
rs_397507979 |
7 SubmittersRCV000164696RCV000258264RCV000586321RCV001311842 |
|
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu)
|
SNV Germline |
Chr13:32370424 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 2 not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025597 |
rs_786202034 |
6 SubmittersRCV000164641RCV000821790RCV003153442RCV000412223RCV000779934RCV003474862 |
|
NM_000059.4(BRCA2):c.8422C>G (p.Leu2808Val)
|
SNV Germline |
Chr13:32370492 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025637 |
rs_786203867 |
6 SubmittersRCV000167360RCV000801748RCV000985602RCV003462241RCV004804776 |
|
NM_000059.4(BRCA2):c.8447G>A (p.Gly2816Asp)
|
SNV Germline |
Chr13:32370517 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA025648 |
rs_56096120 |
7 SubmittersRCV000164294RCV000409132RCV000637368RCV003477608RCV005431508 |
|
NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe)
|
SNV Germline |
Chr13:32370520 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025649 |
rs_786201992 |
11 SubmittersRCV000164566RCV000229582RCV000506092RCV000985253RCV003234771RCV003462142 |
|
NM_000059.4(BRCA2):c.8479C>T (p.Pro2827Ser)
|
SNV Germline |
Chr13:32370549 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025662 |
rs_786202484 |
4 SubmittersRCV000165319RCV001551664RCV001850315RCV004804747 |
|
NM_000059.4(BRCA2):c.8516A>G (p.Tyr2839Cys)
|
SNV Germline |
Chr13:32370984 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025689 |
rs_786202204 |
2 SubmittersRCV000164908RCV001327069 |
|
NM_000059.4(BRCA2):c.8544A>T (p.Glu2848Asp)
|
SNV Germline |
Chr13:32371012 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025702 |
rs_786201871 |
3 SubmittersRCV000164371RCV000792993 |
|
NM_000059.4(BRCA2):c.8633A>G (p.Glu2878Gly)
|
SNV Germline |
Chr13:32376670 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA025754 |
rs_786203358 |
3 SubmittersRCV000166633RCV000223363RCV000637779 |
|
NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu)
|
SNV Germline |
Chr13:32376776 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA025798 |
rs_786201996 |
10 SubmittersRCV000238725RCV000164571RCV000768610RCV000257980RCV002509265RCV005359481RCV004567247 |
|
NM_000059.4(BRCA2):c.8875G>T (p.Glu2959Ter)
|
SNV Germline |
Chr13:32379437 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA025858 |
rs_786202920 |
4 SubmittersRCV000165989RCV000241376RCV000657677 |
|
NM_000059.4(BRCA2):c.9125A>G (p.Asp3042Gly)
|
SNV Germline |
Chr13:32380014 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA026000 |
rs_786203001 |
3 SubmittersRCV000166102RCV001850335RCV002293424 |
|
NM_000059.4(BRCA2):c.9146A>G (p.Tyr3049Cys)
|
SNV Germline |
Chr13:32380035 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026003 |
rs_200924727 |
2 SubmittersRCV000167158RCV001062357 |
|
NM_000059.4(BRCA2):c.9171C>G (p.Phe3057Leu)
|
SNV Germline |
Chr13:32380060 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026014 |
rs_747615055 |
6 SubmittersRCV000166134RCV000687351RCV002472957RCV004804758 |
|
NM_000059.4(BRCA2):c.9205T>C (p.Cys3069Arg)
|
SNV Germline |
Chr13:32380094 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA026030 |
rs_398122611 |
7 SubmittersRCV000167488RCV001216692RCV001818400RCV003493479RCV005008084 |
|
NM_000059.4(BRCA2):c.9209C>T (p.Ser3070Phe)
|
SNV Germline |
Chr13:32380098 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA026034 |
rs_747837583 |
7 SubmittersRCV000166326RCV000220690RCV000554071RCV003462211RCV003995500 |
|
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr)
|
SNV Germline |
Chr13:32394770 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Breast and/or ovarian cancer Condition: not provided Familial cancer of breast Malignant tumor of breast BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA026107 |
rs_770003991 |
14 SubmittersRCV000166690RCV000168350RCV000411698RCV000496448RCV000735624RCV000679197RCV004567312RCV001353738RCV004528917RCV004804766 |
|
NM_000059.4(BRCA2):c.9437T>C (p.Phe3146Ser)
|
SNV Germline |
Chr13:32394869 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA026158 |
rs_786202000 |
5 SubmittersRCV000164578RCV001071583RCV004696861RCV003493471 |
|
NM_000059.4(BRCA2):c.9649A>C (p.Met3217Leu)
|
SNV Germline |
Chr13:32398162 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA026257 |
rs_786203000 |
4 SubmittersRCV000166101RCV000527255RCV003477624 |
|
NM_000059.4(BRCA2):c.9956C>T (p.Ser3319Phe)
|
SNV Germline |
Chr13:32398469 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA026347 |
rs_778694116 |
2 SubmittersRCV000165317RCV000815048 |
|
NM_000059.4(BRCA2):c.10069A>G (p.Thr3357Ala)
|
SNV Germline |
Chr13:32398582 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA010123 |
rs_786203411 |
4 SubmittersRCV000166704RCV000706992RCV000425088RCV003995526 |
|
NM_000059.4(BRCA2):c.10085T>C (p.Phe3362Ser)
|
SNV Germline |
Chr13:32398598 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA010174 |
rs_756978580 |
6 SubmittersRCV000163731RCV001055211RCV001508343 |
|
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu)
|
SNV Germline |
Chr13:32336744 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA015104 |
rs_587782737 |
11 SubmittersRCV000168301RCV000496950RCV000574060RCV000985478RCV003995622 |
|
NM_000059.4(BRCA2):c.3071T>C (p.Ile1024Thr)
|
SNV Germline |
Chr13:32337426 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA017158 |
rs_764921920 |
9 SubmittersRCV000167880RCV000564299RCV000587236RCV000855582RCV000662817RCV004804777RCV004732732 |
|
NM_000059.4(BRCA2):c.3346A>G (p.Thr1116Ala)
|
SNV Germline |
Chr13:32337701 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA017810 |
rs_786204212 |
4 SubmittersRCV000168327RCV001191384 |
|
NM_000059.4(BRCA2):c.4204A>C (p.Asn1402His)
|
SNV Germline |
Chr13:32338559 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA019715 |
rs_786204062 |
5 SubmittersRCV000167928RCV000222929RCV001284423 |
|
NM_000059.4(BRCA2):c.4627A>G (p.Lys1543Glu)
|
SNV Germline |
Chr13:32338982 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA020550 |
rs_786204239 |
8 SubmittersRCV000168397RCV000569285RCV000985531RCV000989031RCV005361050 |
|
NM_000059.4(BRCA2):c.5675G>A (p.Gly1892Asp)
|
SNV Germline |
Chr13:32340030 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA022943 |
rs_786204067 |
4 SubmittersRCV000167952RCV000776356 |
|
NM_000059.4(BRCA2):c.5969A>G (p.Asp1990Gly)
|
SNV Germline |
Chr13:32340324 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA023435 |
rs_148618542 |
4 SubmittersRCV000168315RCV000567352 |
|
NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His)
|
SNV Germline |
Chr13:32370983 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025688 |
rs_758884639 |
11 SubmittersRCV000167960RCV000580149RCV000586024RCV002250583RCV003493481RCV004804778 |
|
NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser)
|
SNV Germline |
Chr13:32380049 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA026009 |
rs_786204070 |
6 SubmittersRCV000167956RCV001731497RCV001185075RCV004567359RCV005230027 |
|
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)
|
SNV Germline |
Chr13:32332289 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer not specified Hereditary cancer BRCA2-related cancer predisposition Familial colorectal cancer type X |
Criteria Provided Conflicting Classifications |
CA025461 |
rs_786204274 |
12 SubmittersRCV000218275RCV000560451RCV000657096RCV001170224RCV001193280RCV003491925RCV004804780RCV005361051 |
|
NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys)
|
SNV Germline |
Chr13:32333072 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA012531 |
rs_138734772 |
8 SubmittersRCV000210974RCV000502252RCV000759578RCV001012315RCV000804265 |
|
NM_000059.4(BRCA2):c.4898T>C (p.Ile1633Thr)
|
SNV Germline |
Chr13:32339253 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA020977 |
rs_80358714 |
6 SubmittersRCV000220621RCV001850380RCV003736616 |
|
NM_000059.4(BRCA2):c.5173G>A (p.Ala1725Thr)
|
SNV Germline |
Chr13:32339528 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA021584 |
rs_786204275 |
2 SubmittersRCV002020348RCV003157041 |
|
NM_000059.4(BRCA2):c.5465A>G (p.Asn1822Ser)
|
SNV Germline |
Chr13:32339820 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA022360 |
rs_587781580 |
4 SubmittersRCV001284432RCV001348712RCV002345560 |
|
NM_000059.4(BRCA2):c.5926G>A (p.Gly1976Arg)
|
SNV Germline |
Chr13:32340281 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA023376 |
rs_786204277 |
3 SubmittersRCV002354410RCV001341135 |
|
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr)
|
SNV Germline |
Chr13:32340372 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA023520 |
rs_144784912 |
9 SubmittersRCV000204206RCV000239063RCV000570534RCV000735579RCV001762394RCV002250584 |
|
NM_000059.4(BRCA2):c.7008-1G>A
|
SNV Germline |
Chr13:32354860 |
Pathogenic |
Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder |
Reviewed By Expert Panel |
CA024727 |
rs_786204280 |
10 SubmittersRCV000168595RCV000258461RCV000582155RCV001213985RCV002264916RCV004732734 |
|
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=)
|
SNV Germline |
Chr13:32363209 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025397 |
rs_143999963 |
12 SubmittersRCV000231287RCV000565818RCV000662966RCV000590364RCV001711340RCV004535144RCV005365099 |
|
NM_000059.4(BRCA2):c.9281C>G (p.Ser3094Ter)
|
SNV Germline |
Chr13:32394713 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA026085 |
rs_786204283 |
4 SubmittersRCV000168614RCV000257915RCV005305970 |
|
NM_000059.4(BRCA2):c.9472A>G (p.Thr3158Ala)
|
SNV Germline |
Chr13:32394904 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA026172 |
rs_786204284 |
9 SubmittersRCV000572867RCV000779966RCV000980470RCV001564816RCV003995629 |
|
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro)
|
SNV Germline |
Chr13:32398615 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA010245 |
rs_786205482 |
10 SubmittersRCV000171217RCV000726705RCV001016988RCV001372516RCV003316073RCV004732736 |
|
NM_000059.4(BRCA2):c.8087T>G (p.Leu2696Trp)
|
SNV Germline |
Chr13:32363289 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA025448 |
rs_80359050 |
4 SubmittersRCV000172807RCV000218050RCV001059028RCV004804784 |
|
NM_000059.4(BRCA2):c.1661G>T (p.Cys554Phe)
|
SNV Germline |
Chr13:32333139 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA012821 |
rs_748215651 |
2 SubmittersRCV000173631RCV003157438 |
|
NM_000059.4(BRCA2):c.1039C>A (p.Gln347Lys)
|
SNV Germline |
Chr13:32332517 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA010623 |
rs_794726967 |
4 SubmittersRCV000173632RCV001038733RCV002390417 |
|
NM_000059.4(BRCA2):c.1909+11C>T
|
SNV Germline |
Chr13:32333398 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA013814 |
rs_794726968 |
3 SubmittersRCV000173636RCV002517665RCV005237644 |
|
NM_000059.4(BRCA2):c.1909+9G>T
|
SNV Germline |
Chr13:32333396 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA013869 |
rs_794726969 |
3 SubmittersRCV000173637RCV002281997RCV002516595 |
|
NM_000059.4(BRCA2):c.3451A>C (p.Ile1151Leu)
|
SNV Germline |
Chr13:32337806 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA018059 |
rs_80358591 |
3 SubmittersRCV000173971RCV003157440RCV001327054 |
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
SNV Germline |
Chr13:32325184 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA019818 |
rs_397507713 |
9 SubmittersRCV000258256RCV000509645RCV000548158RCV000727660RCV003474932 |
|
NM_000059.4(BRCA2):c.1A>G (p.Met1Val)
|
SNV Germline |
Chr13:32316461 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA335967 |
rs_863224464 |
1 SubmittersRCV000195819 |
|
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp)
|
SNV Germline |
Chr13:32336642 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA339089 |
rs_863224585 |
10 SubmittersRCV000200091RCV000496468RCV000563152RCV000985474RCV001358320RCV003996985 |
|
NM_000059.4(BRCA2):c.2671G>C (p.Val891Leu)
|
SNV Germline |
Chr13:32337026 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of pancreas Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA337799 |
rs_756951335 |
8 SubmittersRCV000198310RCV000575746RCV000677822RCV001567191RCV002250593RCV004804831 |
|
NM_000059.4(BRCA2):c.2821G>A (p.Val941Met)
|
SNV Germline |
Chr13:32337176 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA338696 |
rs_863224586 |
5 SubmittersRCV000199529RCV001182032RCV003996987 |
|
NM_000059.4(BRCA2):c.3188A>T (p.Gln1063Leu)
|
SNV Germline |
Chr13:32337543 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA339239 |
rs_775030825 |
2 SubmittersRCV000200320RCV003157441 |
|
NM_000059.4(BRCA2):c.3994C>T (p.His1332Tyr)
|
SNV Germline |
Chr13:32338349 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA336760 |
rs_863224588 |
6 SubmittersRCV000196863RCV001176096RCV004701254 |
|
NM_000059.4(BRCA2):c.4704G>T (p.Lys1568Asn)
|
SNV Germline |
Chr13:32339059 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA336882 |
rs_863224589 |
3 SubmittersRCV000196983RCV002336541 |
|
NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr)
|
SNV Germline |
Chr13:32339346 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA338267 |
rs_863224590 |
5 SubmittersRCV000198889RCV000571680RCV001334182RCV003996988 |
|
NM_000059.4(BRCA2):c.5527G>A (p.Ala1843Thr)
|
SNV Germline |
Chr13:32339882 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA337669 |
rs_863224594 |
3 SubmittersRCV000198130RCV003157442 |
|
NM_000059.4(BRCA2):c.5840C>T (p.Pro1947Leu)
|
SNV Germline |
Chr13:32340195 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA336367 |
rs_863224595 |
3 SubmittersRCV000196364RCV003157443RCV003996989 |
|
NM_000059.4(BRCA2):c.6022A>T (p.Lys2008Ter)
|
SNV Germline |
Chr13:32340377 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA335857 |
rs_863224467 |
2 SubmittersRCV000195698RCV000241423 |
|
NM_000059.4(BRCA2):c.6842-14A>T
|
SNV Germline |
Chr13:32344544 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA337311 |
rs_81002821 |
6 SubmittersRCV000197555RCV000579742RCV001539076RCV001194061RCV003996948 |
|
NM_000059.4(BRCA2):c.6916G>A (p.Ala2306Thr)
|
SNV Germline |
Chr13:32344632 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA337848 |
rs_730881550 |
7 SubmittersRCV000198357RCV000588806RCV000566440RCV003996990 |
|
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln)
|
SNV Germline |
Chr13:32354948 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer not specified Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA339258 |
rs_370708814 |
12 SubmittersRCV000200353RCV000222104RCV000768606RCV001193840RCV001565170RCV003462319RCV003996991RCV004530188RCV005361143 |
|
NM_000059.4(BRCA2):c.7478T>C (p.Met2493Thr)
|
SNV Germline |
Chr13:32356470 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA336705 |
rs_863224597 |
2 SubmittersRCV000196776RCV004948210 |
|
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)
|
SNV Germline |
Chr13:32357806 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA336029 |
rs_55647716 |
9 SubmittersRCV000195904RCV000217467RCV000412336RCV000590423RCV003462320 |
|
NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter)
|
SNV Germline |
Chr13:32362589 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA339124 |
rs_863224468 |
4 SubmittersRCV000241341RCV000200163RCV003456376 |
|
NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu)
|
SNV Germline |
Chr13:32362633 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA338873 |
rs_774723315 |
10 SubmittersRCV000199791RCV000239039RCV000213138RCV000679188RCV000499513RCV001353687 |
|
NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter)
|
SNV Germline |
Chr13:32363345 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA339029 |
rs_863224469 |
6 SubmittersRCV000199997RCV000221489RCV000238968RCV001283941 |
|
NM_000059.4(BRCA2):c.8420C>A (p.Ser2807Ter)
|
SNV Germline |
Chr13:32370490 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA336160 |
rs_55763607 |
3 SubmittersRCV000196106RCV000241130RCV000569423 |
|
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro)
|
SNV Germline |
Chr13:32394734 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA337754 |
rs_28897758 |
5 SubmittersRCV000198262RCV001193200RCV001589076RCV002372186 |
|
NM_000059.4(BRCA2):c.9501+6G>T
|
SNV Germline |
Chr13:32394939 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA339586 |
rs_863224600 |
3 SubmittersRCV000200853RCV000773161RCV001705158 |
|
NM_000059.4(BRCA2):c.9551T>C (p.Leu3184Pro)
|
SNV Germline |
Chr13:32396947 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA337063 |
rs_863224601 |
3 SubmittersRCV000197260RCV000561685 |
|
NM_000059.4(BRCA2):c.10160C>G (p.Thr3387Ser)
|
SNV Germline |
Chr13:32398673 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA337034 |
rs_863224584 |
6 SubmittersRCV000197203RCV000222578RCV000662771RCV000613680 |
|
NM_000059.4(BRCA2):c.632-3C>G
|
SNV Germline |
Chr13:32329440 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA348611 |
rs_568027879 |
11 SubmittersRCV000204368RCV000220060RCV000238832RCV000481337RCV000766853RCV003474980RCV004567458 |
|
NM_000059.4(BRCA2):c.1291A>C (p.Thr431Pro)
|
SNV Germline |
Chr13:32332769 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA349130 |
rs_864622399 |
3 SubmittersRCV000204938RCV001010792 |
|
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)
|
SNV Germline |
Chr13:32332919 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA349336 |
rs_760559435 |
11 SubmittersRCV000205133RCV000566955RCV000663047RCV001358420RCV002247629RCV000759574 |
|
NM_000059.4(BRCA2):c.1462A>C (p.Ile488Leu)
|
SNV Germline |
Chr13:32332940 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA350401 |
rs_864622352 |
5 SubmittersRCV000206357RCV001358466RCV003157451 |
|
NM_000059.4(BRCA2):c.1561T>C (p.Ser521Pro)
|
SNV Germline |
Chr13:32333039 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA348820 |
rs_864622689 |
4 SubmittersRCV000204596RCV001191188 |
|
NM_000059.4(BRCA2):c.1780A>T (p.Ile594Leu)
|
SNV Germline |
Chr13:32333258 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA348739 |
rs_431825287 |
6 SubmittersRCV000204513RCV000772141RCV001706189RCV002285279 |
|
NM_000059.4(BRCA2):c.1996A>G (p.Ile666Val)
|
SNV Germline |
Chr13:32336351 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA348838 |
rs_864622172 |
4 SubmittersRCV000204625RCV003157448RCV003483573 |
|
NM_000059.4(BRCA2):c.2596G>C (p.Glu866Gln)
|
SNV Germline |
Chr13:32336951 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA348942 |
rs_864622476 |
4 SubmittersRCV000204729RCV001015897RCV003477693 |
|
NM_000059.4(BRCA2):c.3188A>G (p.Gln1063Arg)
|
SNV Germline |
Chr13:32337543 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast Hereditary cancer-predisposing syndrome not specified BRCA2-related disorder Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA350658 |
rs_775030825 |
9 SubmittersRCV000206648RCV000586508RCV000501582RCV000571902RCV001804171RCV004541289RCV003997601 |
|
NM_000059.4(BRCA2):c.3191C>G (p.Ser1064Ter)
|
SNV Germline |
Chr13:32337546 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA348662 |
rs_864622609 |
2 SubmittersRCV000204433RCV000241250 |
|
NM_000059.4(BRCA2):c.3329A>C (p.Glu1110Ala)
|
SNV Germline |
Chr13:32337684 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA348369 |
rs_587782072 |
7 SubmittersRCV000204123RCV000570799RCV000587928 |
|
NM_000059.4(BRCA2):c.3540G>C (p.Lys1180Asn)
|
SNV Germline |
Chr13:32337895 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA350624 |
rs_864622363 |
10 SubmittersRCV000206612RCV000220199RCV001560226RCV002250596RCV005361180RCV003491953RCV005600815 |
|
NM_000059.4(BRCA2):c.4114T>A (p.Phe1372Ile)
|
SNV Germline |
Chr13:32338469 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA348262 |
rs_864622169 |
2 SubmittersRCV000203980RCV003157447 |
|
NM_000059.4(BRCA2):c.4120A>G (p.Lys1374Glu)
|
SNV Germline |
Chr13:32338475 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA349211 |
rs_864622126 |
6 SubmittersRCV000205046RCV000482300RCV001021908RCV003479058 |
|
NM_000059.4(BRCA2):c.4445A>G (p.Glu1482Gly)
|
SNV Germline |
Chr13:32338800 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA350844 |
rs_775234705 |
4 SubmittersRCV000206849RCV001022493 |
|
NM_000059.4(BRCA2):c.4527A>C (p.Gln1509His)
|
SNV Germline |
Chr13:32338882 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA348344 |
rs_56283738 |
7 SubmittersRCV000204087RCV000215274RCV000487203RCV001193890 |
|
NM_000059.4(BRCA2):c.4688G>T (p.Trp1563Leu)
|
SNV Germline |
Chr13:32339043 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA349099 |
rs_864622546 |
2 SubmittersRCV000204911RCV003157455 |
|
NM_000059.4(BRCA2):c.4814T>C (p.Val1605Ala)
|
SNV Germline |
Chr13:32339169 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA349454 |
rs_864622426 |
2 SubmittersRCV000205282RCV003157453 |
|
NM_000059.4(BRCA2):c.4865G>C (p.Arg1622Thr)
|
SNV Germline |
Chr13:32339220 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA350255 |
rs_864622427 |
2 SubmittersRCV000206190RCV003157454 |
|
NM_000059.4(BRCA2):c.5016C>G (p.Tyr1672Ter)
|
SNV Germline |
Chr13:32339371 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA348640 |
rs_864622073 |
6 SubmittersRCV000204412RCV000569880RCV000241039 |
|
NM_000059.4(BRCA2):c.5030G>T (p.Arg1677Ile)
|
SNV Germline |
Chr13:32339385 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA348192 |
rs_375304428 |
5 SubmittersRCV000203901RCV001800530RCV002336562 |
|
NM_000059.4(BRCA2):c.5396C>T (p.Ala1799Val)
|
SNV Germline |
Chr13:32339751 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA350134 |
rs_770450108 |
7 SubmittersRCV000206075RCV000222205RCV003997606RCV000759625 |
|
NM_000059.4(BRCA2):c.5733T>G (p.Asp1911Glu)
|
SNV Germline |
Chr13:32340088 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA348336 |
rs_367823201 |
8 SubmittersRCV000204074RCV000573621RCV002247636RCV003997635RCV004725063 |
|
NM_000059.4(BRCA2):c.5932T>G (p.Phe1978Val)
|
SNV Germline |
Chr13:32340287 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA348922 |
rs_864622526 |
4 SubmittersRCV000204715RCV002354580RCV001799633 |
|
NM_000059.4(BRCA2):c.6011A>G (p.Glu2004Gly)
|
SNV Germline |
Chr13:32340366 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA350195 |
rs_864622336 |
2 SubmittersRCV000206127RCV003157450 |
|
NM_000059.4(BRCA2):c.6111A>T (p.Glu2037Asp)
|
SNV Germline |
Chr13:32340466 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA349480 |
rs_864622740 |
4 SubmittersRCV000205321RCV000580083 |
|
NM_000059.4(BRCA2):c.6236T>A (p.Val2079Glu)
|
SNV Germline |
Chr13:32340591 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA350080 |
rs_864622757 |
3 SubmittersRCV000206004RCV002363036 |
|
NM_000059.4(BRCA2):c.6254T>G (p.Leu2085Ter)
|
SNV Germline |
Chr13:32340609 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA348847 |
rs_864622082 |
3 SubmittersRCV000241368RCV000204636RCV001184328 |
|
NM_000059.4(BRCA2):c.6638C>T (p.Ser2213Phe)
|
SNV Germline |
Chr13:32340993 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA348036 |
rs_75925841 |
7 SubmittersRCV000203740RCV000216639RCV000482325RCV000780020RCV002250595 |
|
NM_000059.4(BRCA2):c.7540A>G (p.Lys2514Glu)
|
SNV Germline |
Chr13:32356532 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA348259 |
rs_864622624 |
9 SubmittersRCV000203975RCV000222575RCV000656621RCV001192684RCV003462386RCV003493505 |
|
NM_000059.4(BRCA2):c.7618-10T>G
|
SNV Germline |
Chr13:32357732 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA350161 |
rs_864622573 |
3 SubmittersRCV000206097RCV000989067RCV003343703 |
|
NM_000059.4(BRCA2):c.7874G>A (p.Arg2625Lys)
|
SNV Germline |
Chr13:32362591 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA348618 |
rs_864622552 |
9 SubmittersRCV000204378RCV000483772RCV000509944RCV001257500RCV000779999RCV003474984 |
|
NM_000059.4(BRCA2):c.8569G>C (p.Ala2857Pro)
|
SNV Germline |
Chr13:32371037 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA350121 |
rs_730881565 |
3 SubmittersRCV000206063RCV002444830RCV004804847 |
|
NM_000059.4(BRCA2):c.8646A>T (p.Lys2882Asn)
|
SNV Germline |
Chr13:32376683 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA348983 |
rs_864622658 |
2 SubmittersRCV000204787RCV004601130 |
|
NM_000059.4(BRCA2):c.8754+4A>T
|
SNV Germline |
Chr13:32376795 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA348420 |
rs_81002893 |
6 SubmittersRCV000204178RCV000410920RCV000572423RCV003474982 |
|
NM_000059.4(BRCA2):c.8987T>A (p.Leu2996Ter)
|
SNV Germline |
Chr13:32379783 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Pancreatic cancer, susceptibility to, 2 |
Reviewed By Expert Panel |
CA348592 |
rs_864622200 |
7 SubmittersRCV000204346RCV000241094RCV001269609RCV001525608RCV005625444 |
|
NM_000059.4(BRCA2):c.9027T>G (p.Tyr3009Ter)
|
SNV Germline |
Chr13:32379823 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA349539 |
rs_864622568 |
3 SubmittersRCV000205381RCV000240965RCV004020533 |
|
NM_000059.4(BRCA2):c.9096A>C (p.Lys3032Asn)
|
SNV Germline |
Chr13:32379892 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA348978 |
rs_864622582 |
6 SubmittersRCV000204782RCV000236934RCV002372203RCV001170979RCV004567474 |
|
NM_000059.4(BRCA2):c.9365C>T (p.Ala3122Val)
|
SNV Germline |
Chr13:32394797 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA349533 |
rs_571971903 |
6 SubmittersRCV000205376RCV000570908RCV000484126RCV002282040RCV004804846 |
|
NM_000059.4(BRCA2):c.10171A>G (p.Ile3391Val)
|
SNV Germline |
Chr13:32398684 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA350207 |
rs_778147500 |
4 SubmittersRCV000206136RCV000442780RCV000773224 |
|
NM_000059.4(BRCA2):c.67+1G>C
|
SNV Germline |
Chr13:32316528 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary breast ovarian cancer syndrome Inherited breast cancer and ovarian cancer |
Criteria Provided Multiple Submitters No Conflicts |
CA10575902 |
rs_81002796 |
7 SubmittersRCV000217482RCV001818507RCV000239221RCV000240786RCV001853355RCV005237729 |
|
NM_000059.4(BRCA2):c.454A>G (p.Thr152Ala)
|
SNV Germline |
Chr13:32326129 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast neoplasm Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10575905 |
rs_886037806 |
7 SubmittersRCV003156232RCV000240793RCV000637659RCV000777928RCV003607256RCV004804852 |
|
NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser)
|
SNV Germline |
Chr13:32332689 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome BRCA2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10575907 |
rs_80358414 |
9 SubmittersRCV000240794RCV000571012RCV000988998RCV000472702RCV004530255RCV000586358 |
|
NM_000059.4(BRCA2):c.1462A>G (p.Ile488Val)
|
SNV Germline |
Chr13:32332940 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10575908 |
rs_864622352 |
6 SubmittersRCV000240763RCV001239569RCV000572755RCV003444220 |
|
NM_000059.4(BRCA2):c.1511C>G (p.Ser504Cys)
|
SNV Germline |
Chr13:32332989 |
Conflicting classifications of pathogenicity |
Breast neoplasm Condition: not provided not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10575909 |
rs_886037807 |
7 SubmittersRCV000240730RCV000486878RCV001193362RCV003644931RCV002390563 |
|
NM_000059.4(BRCA2):c.1591A>G (p.Lys531Glu)
|
SNV Germline |
Chr13:32333069 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast neoplasm Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10575910 |
rs_876659050 |
5 SubmittersRCV000815686RCV000240715RCV000221304 |
|
NM_000059.4(BRCA2):c.1786G>A (p.Asp596Asn)
|
SNV Germline/somatic |
Chr13:32333264 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10575911 |
rs_56328701 |
2 SubmittersRCV000240683RCV003157457 |
|
NM_000059.4(BRCA2):c.3052A>C (p.Lys1018Gln)
|
SNV Germline/somatic |
Chr13:32337407 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10575914 |
rs_886037810 |
2 SubmittersRCV000240744RCV003157460 |
|
NM_000059.4(BRCA2):c.3473A>G (p.Glu1158Gly)
|
SNV Germline |
Chr13:32337828 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10575915 |
rs_886037808 |
2 SubmittersRCV000240736RCV003157458 |
|
NM_000059.4(BRCA2):c.3475T>G (p.Cys1159Gly)
|
SNV Germline |
Chr13:32337830 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10575916 |
rs_886037814 |
3 SubmittersRCV000240718RCV000537173RCV003157462 |
|
NM_000059.4(BRCA2):c.4548C>G (p.Ile1516Met)
|
SNV Germline |
Chr13:32338903 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast neoplasm Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10575920 |
rs_886037815 |
3 SubmittersRCV003157463RCV000240770RCV001853357 |
|
NM_000059.4(BRCA2):c.5206C>T (p.Gln1736Ter)
|
SNV Germline/somatic |
Chr13:32339561 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary breast ovarian cancer syndrome Malignant tumor of urinary bladder |
Reviewed By Expert Panel |
CA10575921 |
rs_886037802 |
4 SubmittersRCV000661397RCV000240691RCV000546284RCV003332142 |
|
NM_000059.4(BRCA2):c.5345A>G (p.Gln1782Arg)
|
SNV Germline |
Chr13:32339700 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10575922 |
rs_758959174 |
4 SubmittersRCV000240703RCV000777925 |
|
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe)
|
SNV Germline |
Chr13:32339842 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast neoplasm Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940879 |
rs_779967765 |
11 SubmittersRCV000482177RCV000240748RCV000456588RCV000574898RCV001356089RCV002509304RCV002250598RCV004804853 |
|
NM_000059.4(BRCA2):c.6235G>T (p.Val2079Leu)
|
SNV Germline |
Chr13:32340590 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10575923 |
rs_886037812 |
3 SubmittersRCV000240796RCV002363052 |
|
NM_000059.4(BRCA2):c.6256A>G (p.Ile2086Val)
|
SNV Germline/somatic |
Chr13:32340611 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10575924 |
rs_886037811 |
2 SubmittersRCV000240795RCV003157461 |
|
NM_000059.4(BRCA2):c.6598T>C (p.Phe2200Leu)
|
SNV Germline |
Chr13:32340953 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10575926 |
rs_886037809 |
2 SubmittersRCV000240739RCV003157459 |
|
NM_000059.4(BRCA2):c.8500A>G (p.Thr2834Ala)
|
SNV Germline |
Chr13:32370968 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10575931 |
rs_886037819 |
3 SubmittersRCV000240697RCV000777924 |
|
NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter)
|
SNV Germline |
Chr13:32394750 |
Pathogenic |
Breast neoplasm Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Reviewed By Expert Panel |
CA10575935 |
rs_771203198 |
7 SubmittersRCV000240700RCV000526753RCV000256794RCV001180870RCV003221863 |
|
NM_000059.4(BRCA2):c.67G>A (p.Asp23Asn)
|
SNV Germline |
Chr13:32316527 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10576059 |
rs_397507881 |
3 SubmittersRCV000211034RCV003343705RCV000548779 |
|
NM_000059.4(BRCA2):c.1159G>T (p.Val387Phe)
|
SNV Germline |
Chr13:32332637 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA10576061 |
rs_869320791 |
10 SubmittersRCV000218227RCV000211000RCV000462241RCV001284070RCV003607257RCV004804854RCV004529015 |
|
NM_000059.4(BRCA2):c.1355T>C (p.Leu452Pro)
|
SNV Germline |
Chr13:32332833 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940510 |
rs_753512842 |
11 SubmittersRCV000211025RCV000637781RCV000568425RCV000766590 |
|
NM_000059.4(BRCA2):c.2695A>G (p.Asn899Asp)
|
SNV Germline |
Chr13:32337050 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940624 |
rs_564197624 |
5 SubmittersRCV000219179RCV000211046RCV001284079RCV000637584 |
|
NM_000059.4(BRCA2):c.3437A>T (p.Glu1146Val)
|
SNV Germline |
Chr13:32337792 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10576065 |
rs_80358588 |
7 SubmittersRCV000210959RCV004804855RCV000568644RCV001224564RCV002247644 |
|
NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln)
|
SNV Germline |
Chr13:32339003 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940803 |
rs_80358695 |
6 SubmittersRCV000210981RCV000496491RCV001022836RCV001321133 |
|
NM_000059.4(BRCA2):c.5777G>A (p.Ser1926Asn)
|
SNV Germline |
Chr13:32340132 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10576069 |
rs_869320795 |
6 SubmittersRCV000211032RCV000589776RCV001230214RCV000570052 |
|
NM_000059.4(BRCA2):c.6601T>C (p.Ser2201Pro)
|
SNV Germline |
Chr13:32340956 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10576070 |
rs_869320796 |
3 SubmittersRCV000210992RCV003157466 |
|
NM_000059.4(BRCA2):c.7008-21T>C
|
SNV Germline |
Chr13:32354840 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6941050 |
rs_761989332 |
2 SubmittersRCV000211003RCV000582945 |
|
NM_000059.4(BRCA2):c.7618-19G>T
|
SNV Germline |
Chr13:32357723 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10576072 |
rs_371417084 |
4 SubmittersRCV000210995RCV001490270RCV000605290 |
|
NM_000059.4(BRCA2):c.8953+34T>C
|
SNV Germline |
Chr13:32379549 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA6941312 |
rs_201726150 |
2 SubmittersRCV000210976RCV005230097 |
|
NM_000059.4(BRCA2):c.9256+7C>T
|
SNV Germline |
Chr13:32380152 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10576078 |
rs_373697701 |
3 SubmittersRCV000211035RCV000601290RCV001402364 |
|
NM_000059.4(BRCA2):c.1832C>G (p.Ser611Ter)
|
SNV Germline |
Chr13:32333310 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided |
Reviewed By Expert Panel |
CA501226 |
rs_80358474 |
5 SubmittersRCV000213224RCV000257225RCV001310173RCV002284378 |
|
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter)
|
SNV Germline |
Chr13:32337542 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA10576940 |
rs_876657678 |
14 SubmittersRCV000218286RCV000486387RCV000257793RCV001804949RCV003474994 |
|
NM_000059.4(BRCA2):c.425+2T>C
|
SNV Germline |
Chr13:32325186 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10577457 |
rs_876661045 |
7 SubmittersRCV000221962RCV000663046RCV000697192RCV001022140RCV003475043 |
|
NM_000059.4(BRCA2):c.595G>C (p.Ala199Pro)
|
SNV Germline |
Chr13:32326577 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10577460 |
rs_376582345 |
7 SubmittersRCV000467809RCV000566628RCV000758913RCV003323463RCV003463622RCV005420867 |
|
NM_000059.4(BRCA2):c.1106A>C (p.Asn369Thr)
|
SNV Germline |
Chr13:32332584 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10577461 |
rs_876660966 |
6 SubmittersRCV000220013RCV000566186RCV000766602RCV001854726RCV003998612 |
|
NM_000059.4(BRCA2):c.1730C>T (p.Ala577Val)
|
SNV Germline |
Chr13:32333208 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10577462 |
rs_876661280 |
6 SubmittersRCV000215464RCV001854761RCV002247668RCV003157471 |
|
NM_000059.4(BRCA2):c.2345T>A (p.Leu782Gln)
|
SNV Germline |
Chr13:32336700 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10577464 |
rs_876661019 |
3 SubmittersRCV000215981RCV003157467 |
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
SNV Germline |
Chr13:32336760 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10577465 |
rs_876661089 |
10 SubmittersRCV000222981RCV000510101RCV000547681RCV000763883RCV000989012RCV001535798RCV004804936 |
|
NM_000059.4(BRCA2):c.2924T>C (p.Ile975Thr)
|
SNV Germline |
Chr13:32337279 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10577466 |
rs_398122756 |
3 SubmittersRCV000221178RCV000509793 |
|
NM_000059.4(BRCA2):c.3629A>T (p.Asp1210Val)
|
SNV Germline |
Chr13:32337984 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940711 |
rs_397507311 |
5 SubmittersRCV000221295RCV001854745RCV002450647RCV005620925 |
|
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp)
|
SNV Germline |
Chr13:32338117 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940723 |
rs_777028631 |
10 SubmittersRCV000219074RCV000555263RCV000574577RCV001354936RCV003607270RCV004804934 |
|
NM_000059.4(BRCA2):c.3848T>C (p.Val1283Ala)
|
SNV Germline |
Chr13:32338203 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10577468 |
rs_80358628 |
4 SubmittersRCV000215042RCV000509623RCV001854737 |
|
NM_000059.4(BRCA2):c.4067T>C (p.Leu1356Ser)
|
SNV Germline |
Chr13:32338422 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10577469 |
rs_876660967 |
7 SubmittersRCV000558819RCV000759612RCV000771388 |
|
NM_000059.4(BRCA2):c.4237A>G (p.Lys1413Glu)
|
SNV Germline |
Chr13:32338592 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA10577470 |
rs_876661198 |
9 SubmittersRCV000219793RCV000567611RCV000709310RCV000989026RCV004532817 |
|
NM_000059.4(BRCA2):c.4336A>G (p.Ile1446Val)
|
SNV Germline |
Chr13:32338691 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10577471 |
rs_876661017 |
5 SubmittersRCV000222291RCV000573581RCV000800936RCV003998614 |
|
NM_000059.4(BRCA2):c.4522G>C (p.Gly1508Arg)
|
SNV Germline |
Chr13:32338877 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10577472 |
rs_876661035 |
5 SubmittersRCV000220979RCV000562611RCV002516192 |
|
NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter)
|
SNV Germline |
Chr13:32339006 |
Pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA10577473 |
rs_876661062 |
8 SubmittersRCV000219028RCV000637577RCV000661550RCV002338695RCV003475044RCV005361355 |
|
NM_000059.4(BRCA2):c.4661G>C (p.Ser1554Thr)
|
SNV Germline |
Chr13:32339016 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10577474 |
rs_876661225 |
3 SubmittersRCV000214343RCV000823127RCV003157469 |
|
NM_000059.4(BRCA2):c.4771T>A (p.Cys1591Ser)
|
SNV Germline |
Chr13:32339126 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10577475 |
rs_781130788 |
5 SubmittersRCV000215329RCV000697730RCV000772046 |
|
NM_000059.4(BRCA2):c.5005T>A (p.Leu1669Ile)
|
SNV Germline |
Chr13:32339360 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940839 |
rs_771336341 |
3 SubmittersRCV000219696RCV003157468 |
|
NM_000059.4(BRCA2):c.5014T>C (p.Tyr1672His)
|
SNV Germline |
Chr13:32339369 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940840 |
rs_781671762 |
8 SubmittersRCV000222124RCV000586736RCV000560184RCV001188182RCV004804937 |
|
NM_000059.4(BRCA2):c.5134G>T (p.Gly1712Ter)
|
SNV Germline |
Chr13:32339489 |
Pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10577476 |
rs_876661056 |
6 SubmittersRCV000220651RCV000462700RCV000566954RCV000661386 |
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
SNV Germline |
Chr13:32339580 |
Conflicting classifications of pathogenicity |
Condition: not provided Fanconi anemia Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940856 |
rs_756463217 |
15 SubmittersRCV000216156RCV000382610RCV000325274RCV000509611RCV000780045RCV003483582RCV003493535RCV003607271RCV004804935 |
|
NM_000059.4(BRCA2):c.5711T>A (p.Leu1904His)
|
SNV Germline |
Chr13:32340066 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA10577477 |
rs_876658494 |
10 SubmittersRCV000220859RCV000232933RCV000663230RCV000657071RCV005055756 |
|
NM_000059.4(BRCA2):c.6125A>T (p.Gln2042Leu)
|
SNV Germline |
Chr13:32340480 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10577478 |
rs_80358852 |
4 SubmittersRCV000222030RCV001024916RCV002516201 |
|
NM_000059.4(BRCA2):c.6304G>A (p.Val2102Ile)
|
SNV Germline |
Chr13:32340659 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940943 |
rs_80358869 |
10 SubmittersRCV000564936RCV000637345RCV000766585RCV001356587RCV003321556RCV003234774 |
|
NM_000059.4(BRCA2):c.6559C>T (p.Pro2187Ser)
|
SNV Germline |
Chr13:32340914 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA10577480 |
rs_868216475 |
6 SubmittersRCV000213792RCV000773213RCV000822558RCV005008174 |
|
NM_000059.4(BRCA2):c.6523G>C (p.Glu2175Gln)
|
SNV Germline |
Chr13:32340878 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10577481 |
rs_876658412 |
9 SubmittersRCV000215499RCV000214552RCV000684915RCV003997807RCV001311840 |
|
NM_000059.4(BRCA2):c.6811A>G (p.Lys2271Glu)
|
SNV Germline |
Chr13:32341166 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10577482 |
rs_876661276 |
3 SubmittersRCV000220206RCV003157470 |
|
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)
|
SNV Germline |
Chr13:32346877 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA10577486 |
rs_876661032 |
11 SubmittersRCV000585970RCV000477387RCV000776229RCV000989057RCV001260262RCV001355885 |
|
NM_000059.4(BRCA2):c.7547C>G (p.Ser2516Cys)
|
SNV Germline |
Chr13:32356539 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10577492 |
rs_571800995 |
4 SubmittersRCV000215461RCV000220347RCV000467439 |
|
NM_000059.4(BRCA2):c.8393C>G (p.Pro2798Arg)
|
SNV Germline |
Chr13:32370463 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10577493 |
rs_276174906 |
6 SubmittersRCV000218832RCV001375565RCV003530016RCV003998621RCV004020703RCV004567679 |
|
NM_000059.4(BRCA2):c.9168C>G (p.His3056Gln)
|
SNV Germline |
Chr13:32380057 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10577495 |
rs_876661266 |
5 SubmittersRCV000219176RCV000691157RCV001018937RCV003463620 |
|
NM_000059.4(BRCA2):c.9353T>G (p.Met3118Arg)
|
SNV Germline |
Chr13:32394785 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10577496 |
rs_56204128 |
3 SubmittersRCV000216622RCV004601132RCV004804939 |
|
NM_000059.4(BRCA2):c.9381G>A (p.Trp3127Ter)
|
SNV Germline |
Chr13:32394813 |
Pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10577497 |
rs_876661242 |
8 SubmittersRCV000219823RCV000229281RCV000256847RCV000568965 |
|
NM_000059.4(BRCA2):c.9403C>T (p.Leu3135Phe)
|
SNV Germline |
Chr13:32394835 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA10577499 |
rs_55704151 |
8 SubmittersRCV000215156RCV000219010RCV000238693RCV000705106RCV003475020RCV004767175 |
|
NM_000059.4(BRCA2):c.9937A>G (p.Lys3313Glu)
|
SNV Germline |
Chr13:32398450 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10577502 |
rs_876661063 |
3 SubmittersRCV000217053RCV001247257RCV004948221 |
|
NM_000059.4(BRCA2):c.-1A>T
|
SNV Germline |
Chr13:32316460 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579442 |
rs_876659884 |
2 SubmittersRCV000217923RCV001433009 |
|
NM_000059.4(BRCA2):c.7A>G (p.Ile3Val)
|
SNV Germline |
Chr13:32316467 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA6940305 |
rs_770479195 |
11 SubmittersRCV000222062RCV000536609RCV000985596RCV000988978RCV001193318 |
|
NM_000059.4(BRCA2):c.171C>A (p.Tyr57Ter)
|
SNV Germline |
Chr13:32319180 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA10579446 |
rs_201523522 |
4 SubmittersRCV000220700RCV000661867RCV001551037 |
|
NM_000059.4(BRCA2):c.250C>G (p.Gln84Glu)
|
SNV Germline |
Chr13:32319259 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579451 |
rs_80358515 |
3 SubmittersRCV000222485RCV001853561 |
|
NM_000059.4(BRCA2):c.338G>A (p.Arg113Lys)
|
SNV Germline |
Chr13:32325097 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579454 |
rs_876659161 |
6 SubmittersRCV000215283RCV000478500RCV000637720 |
|
NM_000059.4(BRCA2):c.497A>T (p.His166Leu)
|
SNV Germline |
Chr13:32326263 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579461 |
rs_876658364 |
7 SubmittersRCV000219636RCV000238704RCV000560532RCV001561823RCV004567510 |
|
NM_000059.4(BRCA2):c.721A>T (p.Lys241Ter)
|
SNV Germline |
Chr13:32330958 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA10579470 |
rs_876659100 |
7 SubmittersRCV000219810RCV000240982RCV001853543RCV003493517 |
|
NM_000059.4(BRCA2):c.820T>C (p.Phe274Leu)
|
SNV Germline |
Chr13:32332298 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579473 |
rs_876659899 |
2 SubmittersRCV000219299 |
|
NM_000059.4(BRCA2):c.833G>T (p.Ser278Ile)
|
SNV Germline |
Chr13:32332311 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579474 |
rs_876659712 |
3 SubmittersRCV000220829RCV005055763 |
|
NM_000059.4(BRCA2):c.888T>A (p.Tyr296Ter)
|
SNV Germline |
Chr13:32332366 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10579477 |
rs_876659359 |
2 SubmittersRCV000219527RCV000661841 |
|
NM_000059.4(BRCA2):c.928T>G (p.Leu310Val)
|
SNV Germline |
Chr13:32332406 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940476 |
rs_778907270 |
8 SubmittersRCV000219199RCV000460087RCV000985622RCV003335250RCV004804885 |
|
NM_000059.4(BRCA2):c.1022G>C (p.Cys341Ser)
|
SNV Germline |
Chr13:32332500 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579478 |
rs_80358403 |
2 SubmittersRCV000213241 |
|
NM_000059.4(BRCA2):c.1067C>T (p.Ser356Phe)
|
SNV Germline |
Chr13:32332545 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579479 |
rs_876660796 |
2 SubmittersRCV000218928 |
|
NM_000059.4(BRCA2):c.1107T>G (p.Asn369Lys)
|
SNV Germline |
Chr13:32332585 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579482 |
rs_876659793 |
2 SubmittersRCV000215810 |
|
NM_000059.4(BRCA2):c.1115A>G (p.Asn372Ser)
|
SNV Germline |
Chr13:32332593 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579483 |
rs_876658943 |
5 SubmittersRCV000223387RCV001215587RCV003321549RCV005411379 |
|
NM_000059.4(BRCA2):c.1129G>A (p.Glu377Lys)
|
SNV Germline |
Chr13:32332607 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579484 |
rs_876658625 |
3 SubmittersRCV000222499RCV000545937 |
|
NM_000059.4(BRCA2):c.1162G>T (p.Val388Leu)
|
SNV Germline |
Chr13:32332640 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579486 |
rs_876660239 |
3 SubmittersRCV000219735RCV001038620 |
|
NM_000059.4(BRCA2):c.1235C>T (p.Pro412Leu)
|
SNV Germline |
Chr13:32332713 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579488 |
rs_876659628 |
5 SubmittersRCV000223027RCV001201276RCV001370854 |
|
NM_000059.4(BRCA2):c.1255T>C (p.Cys419Arg)
|
SNV Germline |
Chr13:32332733 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579490 |
rs_876658829 |
5 SubmittersRCV000214848RCV000500546RCV001230481 |
|
NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly)
|
SNV Germline |
Chr13:32332752 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Fanconi anemia complementation group D1 |
Criteria Provided Conflicting Classifications |
CA6940501 |
rs_768169574 |
6 SubmittersRCV000222738RCV000701503RCV001115059RCV001115060 |
|
NM_000059.4(BRCA2):c.1292C>T (p.Thr431Ile)
|
SNV Germline |
Chr13:32332770 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579491 |
rs_876660828 |
6 SubmittersRCV000218910RCV000539167RCV003483581RCV004998489 |
|
NM_000059.4(BRCA2):c.1330A>C (p.Asn444His)
|
SNV Germline |
Chr13:32332808 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579493 |
rs_876660409 |
2 SubmittersRCV000214764 |
|
NM_000059.4(BRCA2):c.1349C>G (p.Ser450Cys)
|
SNV Germline |
Chr13:32332827 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579494 |
rs_876659037 |
2 SubmittersRCV000223063 |
|
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala)
|
SNV Germline |
Chr13:32332887 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940518 |
rs_750341436 |
11 SubmittersRCV000220996RCV000499995RCV000657040RCV000757932RCV001798723RCV003998586 |
|
NM_000059.4(BRCA2):c.1457A>G (p.Gln486Arg)
|
SNV Germline |
Chr13:32332935 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579496 |
rs_757735681 |
3 SubmittersRCV000221979RCV001362728 |
|
NM_000059.4(BRCA2):c.1592A>C (p.Lys531Thr)
|
SNV Germline |
Chr13:32333070 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10579497 |
rs_876658771 |
4 SubmittersRCV000214061RCV001207712RCV005230109 |
|
NM_000059.4(BRCA2):c.1615G>A (p.Gly539Arg)
|
SNV Germline |
Chr13:32333093 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579498 |
rs_876659513 |
2 SubmittersRCV000221828 |
|
NM_000059.4(BRCA2):c.1651G>A (p.Asp551Asn)
|
SNV Germline |
Chr13:32333129 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579499 |
rs_876660500 |
3 SubmittersRCV000223039RCV002515727 |
|
NM_000059.4(BRCA2):c.1658T>C (p.Leu553Ser)
|
SNV Germline |
Chr13:32333136 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579500 |
rs_876659627 |
3 SubmittersRCV000218747RCV000228265 |
|
NM_000059.4(BRCA2):c.1663C>A (p.Pro555Thr)
|
SNV Germline |
Chr13:32333141 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579501 |
rs_876660590 |
3 SubmittersRCV000223032 |
|
NM_000059.4(BRCA2):c.1756A>T (p.Lys586Ter)
|
SNV Germline |
Chr13:32333234 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10579503 |
rs_397507275 |
6 SubmittersRCV000219960RCV000505930RCV000637397RCV000661446 |
|
NM_000059.4(BRCA2):c.1772T>C (p.Ile591Thr)
|
SNV Germline |
Chr13:32333250 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579504 |
rs_876660511 |
5 SubmittersRCV000220224RCV000637355RCV002478814RCV003998567 |
|
NM_000059.4(BRCA2):c.1775A>G (p.Tyr592Cys)
|
SNV Germline |
Chr13:32333253 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940540 |
rs_772156559 |
5 SubmittersRCV000221972RCV000536637RCV000781055RCV004804906 |
|
NM_000059.4(BRCA2):c.1780A>G (p.Ile594Val)
|
SNV Germline |
Chr13:32333258 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579506 |
rs_431825287 |
5 SubmittersRCV000222554RCV000232234RCV004725086 |
|
NM_000059.4(BRCA2):c.1858T>C (p.Phe620Leu)
|
SNV Germline |
Chr13:32333336 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579510 |
rs_876659195 |
3 SubmittersRCV000222114RCV003530013 |
|
NM_000059.4(BRCA2):c.1871C>G (p.Ala624Gly)
|
SNV Germline |
Chr13:32333349 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579511 |
rs_769698255 |
4 SubmittersRCV000217365RCV002518258 |
|
NM_000059.4(BRCA2):c.1895C>G (p.Ala632Gly)
|
SNV Germline |
Chr13:32333373 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579512 |
rs_876659192 |
6 SubmittersRCV000214301RCV000457899RCV001199882RCV003997903 |
|
NM_000059.4(BRCA2):c.1909+2T>A
|
SNV Germline |
Chr13:32333389 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10579514 |
rs_876658577 |
2 SubmittersRCV000214167RCV002279716 |
|
NM_000059.4(BRCA2):c.1967C>A (p.Thr656Asn)
|
SNV Germline |
Chr13:32336322 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579518 |
rs_876660857 |
2 SubmittersRCV000218630 |
|
NM_000059.4(BRCA2):c.2029T>G (p.Ser677Ala)
|
SNV Germline |
Chr13:32336384 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579519 |
rs_876658723 |
2 SubmittersRCV000219469 |
|
NM_000059.4(BRCA2):c.2089A>G (p.Lys697Glu)
|
SNV Germline |
Chr13:32336444 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579521 |
rs_876658320 |
4 SubmittersRCV000216832RCV001339781RCV004767166 |
|
NM_000059.4(BRCA2):c.2091A>C (p.Lys697Asn)
|
SNV Germline |
Chr13:32336446 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579522 |
rs_876659230 |
5 SubmittersRCV000215784RCV001797681RCV003607264RCV001853552 |
|
NM_000059.4(BRCA2):c.2108C>T (p.Thr703Ile)
|
SNV Germline |
Chr13:32336463 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579523 |
rs_876660137 |
4 SubmittersRCV000222864RCV000802485RCV001292711 |
|
NM_000059.4(BRCA2):c.2148G>C (p.Gln716His)
|
SNV Germline |
Chr13:32336503 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579524 |
rs_876659550 |
8 SubmittersRCV000221379RCV000528346RCV001775688RCV002247657RCV003997946 |
|
NM_000059.4(BRCA2):c.2151T>A (p.Cys717Ter)
|
SNV Germline |
Chr13:32336506 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10579525 |
rs_876660512 |
4 SubmittersRCV000213890RCV000256776RCV005090118 |
|
NM_000059.4(BRCA2):c.2197G>A (p.Val733Ile)
|
SNV Germline |
Chr13:32336552 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10579528 |
rs_876658303 |
4 SubmittersRCV000213758RCV000531556RCV003479066 |
|
NM_000059.4(BRCA2):c.2210C>G (p.Ala737Gly)
|
SNV Germline |
Chr13:32336565 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579529 |
rs_876660923 |
4 SubmittersRCV000222373RCV001854724 |
|
NM_000059.4(BRCA2):c.2231C>A (p.Ser744Ter)
|
SNV Germline |
Chr13:32336586 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10579530 |
rs_397507282 |
3 SubmittersRCV000216087RCV000661473RCV001069278 |
|
NM_000059.4(BRCA2):c.2264C>G (p.Ser755Cys)
|
SNV Germline |
Chr13:32336619 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579532 |
rs_876659060 |
5 SubmittersRCV000218185RCV000460156RCV001283916 |
|
NM_000059.4(BRCA2):c.2327A>G (p.Lys776Arg)
|
SNV Germline |
Chr13:32336682 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579533 |
rs_876659502 |
4 SubmittersRCV000214319RCV003150984RCV002519698 |
|
NM_000059.4(BRCA2):c.2343C>A (p.Asn781Lys)
|
SNV Germline |
Chr13:32336698 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579534 |
rs_876660253 |
3 SubmittersRCV000216667RCV000547906 |
|
NM_000059.4(BRCA2):c.2467G>A (p.Ala823Thr)
|
SNV Germline |
Chr13:32336822 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579536 |
rs_876659299 |
3 SubmittersRCV000222066RCV003997918 |
|
NM_000059.4(BRCA2):c.2492T>C (p.Val831Ala)
|
SNV Germline |
Chr13:32336847 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940608 |
rs_779520270 |
6 SubmittersRCV000221675RCV000695903RCV003483579 |
|
NM_000059.4(BRCA2):c.2585A>G (p.Lys862Arg)
|
SNV Germline |
Chr13:32336940 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA10579538 |
rs_876659257 |
6 SubmittersRCV000222976RCV001315760RCV000589742RCV001797682 |
|
NM_000059.4(BRCA2):c.2591A>T (p.Gln864Leu)
|
SNV Germline |
Chr13:32336946 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579539 |
rs_876659547 |
6 SubmittersRCV000220456RCV000475885RCV000507331RCV003997944 |
|
NM_000059.4(BRCA2):c.2629C>A (p.Pro877Thr)
|
SNV Germline |
Chr13:32336984 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579543 |
rs_80358524 |
4 SubmittersRCV000215829RCV003644935 |
|
NM_000059.4(BRCA2):c.2641G>T (p.Glu881Ter)
|
SNV Germline |
Chr13:32336996 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA10579544 |
rs_876658648 |
8 SubmittersRCV000213781RCV000256675RCV001217121RCV003475008RCV004804875 |
|
NM_000059.4(BRCA2):c.2651C>G (p.Ser884Ter)
|
SNV Germline |
Chr13:32337006 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA10579545 |
rs_777421358 |
6 SubmittersRCV000257745RCV000222044RCV002515636RCV005230116 |
|
NM_000059.4(BRCA2):c.2659G>A (p.Glu887Lys)
|
SNV Germline |
Chr13:32337014 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579546 |
rs_876658391 |
4 SubmittersRCV000216162RCV000796825 |
|
NM_000059.4(BRCA2):c.2719A>G (p.Lys907Glu)
|
SNV Germline |
Chr13:32337074 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast cancer, susceptibility to Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10579549 |
rs_876659600 |
7 SubmittersRCV000216812RCV000656469RCV000809060RCV003328569RCV004586634RCV004804899 |
|
NM_000059.4(BRCA2):c.2725C>A (p.Leu909Ile)
|
SNV Germline |
Chr13:32337080 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579550 |
rs_876660858 |
2 SubmittersRCV000221615 |
|
NM_000059.4(BRCA2):c.2838T>G (p.Asp946Glu)
|
SNV Germline |
Chr13:32337193 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Invasive breast carcinoma Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940633 |
rs_149753706 |
6 SubmittersRCV000217163RCV000677848RCV001853537RCV003997881 |
|
NM_000059.4(BRCA2):c.2848G>A (p.Val950Ile)
|
SNV Germline |
Chr13:32337203 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA6940635 |
rs_775903570 |
11 SubmittersRCV000213594RCV000238624RCV000472527RCV000478603RCV000769689 |
|
NM_000059.4(BRCA2):c.2878A>G (p.Lys960Glu)
|
SNV Germline |
Chr13:32337233 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579554 |
rs_876659267 |
9 SubmittersRCV000216556RCV000590528RCV000690730RCV003997914 |
|
NM_000059.4(BRCA2):c.2933A>G (p.Asn978Ser)
|
SNV Germline |
Chr13:32337288 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA6940645 |
rs_775890004 |
7 SubmittersRCV000216885RCV000704535RCV003324734RCV004529378 |
|
NM_000059.4(BRCA2):c.2936T>C (p.Ile979Thr)
|
SNV Germline |
Chr13:32337291 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579556 |
rs_876659200 |
3 SubmittersRCV000216516RCV000689948 |
|
NM_000059.4(BRCA2):c.2956A>T (p.Asn986Tyr)
|
SNV Germline |
Chr13:32337311 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579557 |
rs_760142268 |
3 SubmittersRCV000218720RCV002298541 |
|
NM_000059.4(BRCA2):c.2963A>C (p.Asp988Ala)
|
SNV Germline |
Chr13:32337318 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10579558 |
rs_876659509 |
6 SubmittersRCV000218795RCV000496396RCV001753666RCV001853573RCV004804897 |
|
NM_000059.4(BRCA2):c.2968A>G (p.Met990Val)
|
SNV Germline |
Chr13:32337323 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579559 |
rs_876660083 |
7 SubmittersRCV000222852RCV000456252RCV001800568RCV002282060RCV003998012 |
|
NM_000059.4(BRCA2):c.2969T>A (p.Met990Lys)
|
SNV Germline |
Chr13:32337324 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579560 |
rs_876659910 |
3 SubmittersRCV000216946RCV001552025 |
|
NM_000059.4(BRCA2):c.3000T>G (p.Ile1000Met)
|
SNV Germline |
Chr13:32337355 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579561 |
rs_587780649 |
2 SubmittersRCV000221373 |
|
NM_000059.4(BRCA2):c.3070A>G (p.Ile1024Val)
|
SNV Germline |
Chr13:32337425 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579563 |
rs_876659687 |
6 SubmittersRCV000217862RCV000590483RCV001853584 |
|
NM_000059.4(BRCA2):c.3100A>G (p.Ile1034Val)
|
SNV Germline |
Chr13:32337455 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6940667 |
rs_755227053 |
7 SubmittersRCV000220832RCV000255558RCV001069562RCV002509322 |
|
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr)
|
SNV Germline |
Chr13:32337456 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940668 |
rs_545974734 |
11 SubmittersRCV000218639RCV000474468RCV000589055RCV003226255RCV003997872 |
|
NM_000059.4(BRCA2):c.3113A>G (p.Tyr1038Cys)
|
SNV Germline |
Chr13:32337468 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579564 |
rs_876659602 |
4 SubmittersRCV000217693RCV000985491RCV005090105 |
|
NM_000059.4(BRCA2):c.3121A>G (p.Ser1041Gly)
|
SNV Germline |
Chr13:32337476 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579565 |
rs_876658343 |
3 SubmittersRCV000218556RCV001853508 |
|
NM_000059.4(BRCA2):c.3263C>T (p.Pro1088Leu)
|
SNV Germline |
Chr13:32337618 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579569 |
rs_876660365 |
8 SubmittersRCV000220863RCV000703369RCV001589156RCV002267965RCV003998551 |
|
NM_000059.4(BRCA2):c.3281A>G (p.Lys1094Arg)
|
SNV Germline |
Chr13:32337636 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579570 |
rs_876659782 |
2 SubmittersRCV000215681 |
|
NM_000059.4(BRCA2):c.3286G>T (p.Asp1096Tyr)
|
SNV Germline |
Chr13:32337641 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579571 |
rs_876660870 |
3 SubmittersRCV000222462RCV001342615 |
|
NM_000059.4(BRCA2):c.3317G>A (p.Ser1106Asn)
|
SNV Germline |
Chr13:32337672 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10579572 |
rs_876660591 |
3 SubmittersRCV000216735RCV004804928 |
|
NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter)
|
SNV Germline |
Chr13:32337760 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA10579576 |
rs_876659258 |
9 SubmittersRCV000216708RCV000256734RCV000545754RCV003133190 |
|
NM_000059.4(BRCA2):c.3406A>G (p.Ile1136Val)
|
SNV Germline |
Chr13:32337761 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA10579577 |
rs_876658683 |
6 SubmittersRCV000218123RCV000460858RCV001545293RCV003317160 |
|
NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)
|
SNV Germline |
Chr13:32337802 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Fanconi anemia complementation group D1 Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA10579578 |
rs_876660471 |
8 SubmittersRCV000221868RCV000696715RCV001109616RCV001109617RCV002478813RCV003150129 |
|
NM_000059.4(BRCA2):c.3455T>A (p.Leu1152Ter)
|
SNV Germline |
Chr13:32337810 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA10579579 |
rs_80358593 |
6 SubmittersRCV000215781RCV000257866RCV000691010RCV003475001 |
|
NM_000059.4(BRCA2):c.3628G>A (p.Asp1210Asn)
|
SNV Germline |
Chr13:32337983 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided 8 conditions Inherited ovarian cancer (without breast cancer) BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940710 |
rs_774392592 |
8 SubmittersRCV000220676RCV001214933RCV003321554RCV004772872RCV005008170RCV004808638RCV004804927 |
|
NM_000059.4(BRCA2):c.3688T>G (p.Ser1230Ala)
|
SNV Germline |
Chr13:32338043 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579586 |
rs_876659979 |
2 SubmittersRCV000223339 |
|
NM_000059.4(BRCA2):c.3698C>T (p.Ala1233Val)
|
SNV Germline |
Chr13:32338053 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940718 |
rs_745700206 |
9 SubmittersRCV000214873RCV000473952RCV000486250RCV001175565RCV003997812 |
|
NM_000059.4(BRCA2):c.3737A>T (p.Asn1246Ile)
|
SNV Germline |
Chr13:32338092 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579587 |
rs_876660679 |
4 SubmittersRCV000217516RCV001582757RCV001854707 |
|
NM_000059.4(BRCA2):c.3748G>A (p.Glu1250Lys)
|
SNV Germline |
Chr13:32338103 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579588 |
rs_80358615 |
3 SubmittersRCV000221215RCV001327561 |
|
NM_000059.4(BRCA2):c.3803C>T (p.Ser1268Phe)
|
SNV Germline |
Chr13:32338158 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579590 |
rs_876659620 |
3 SubmittersRCV000213953RCV000823187 |
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
SNV Germline |
Chr13:32338163 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome 8 conditions Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10579591 |
rs_876658938 |
5 SubmittersRCV000221459RCV000763885RCV001569103RCV005361285 |
|
NM_000059.4(BRCA2):c.3852T>A (p.Ser1284Arg)
|
SNV Germline |
Chr13:32338207 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA10579592 |
rs_777895333 |
6 SubmittersRCV000217736RCV001582752RCV002515671RCV005008167 |
|
NM_000059.4(BRCA2):c.3877A>C (p.Ile1293Leu)
|
SNV Germline |
Chr13:32338232 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579593 |
rs_876659799 |
4 SubmittersRCV000221273RCV000480203RCV005055764 |
|
NM_000059.4(BRCA2):c.3900G>A (p.Met1300Ile)
|
SNV Germline |
Chr13:32338255 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA10579595 |
rs_876659209 |
9 SubmittersRCV000219800RCV000471803RCV000985515RCV002291599RCV002307454 |
|
NM_000059.4(BRCA2):c.3983G>A (p.Ser1328Asn)
|
SNV Germline |
Chr13:32338338 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940737 |
rs_753690365 |
4 SubmittersRCV000222332RCV001232699 |
|
NM_000059.4(BRCA2):c.3983G>C (p.Ser1328Thr)
|
SNV Germline |
Chr13:32338338 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579597 |
rs_753690365 |
5 SubmittersRCV000215901RCV000700826RCV005361313 |
|
NM_000059.4(BRCA2):c.4003G>T (p.Glu1335Ter)
|
SNV Germline |
Chr13:32338358 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder |
Reviewed By Expert Panel |
CA6940739 |
rs_747070579 |
11 SubmittersRCV000257988RCV000220552RCV000768628RCV000241203RCV004725089 |
|
NM_000059.4(BRCA2):c.4089C>A (p.Asn1363Lys)
|
SNV Germline |
Chr13:32338444 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA10579600 |
rs_80359787 |
6 SubmittersRCV000222803RCV001212587RCV002478812RCV003323461 |
|
NM_000059.4(BRCA2):c.4118T>C (p.Met1373Thr)
|
SNV Germline |
Chr13:32338473 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA6940751 |
rs_750581150 |
6 SubmittersRCV000216455RCV000770726RCV001344239RCV005411381 |
|
NM_000059.4(BRCA2):c.4192G>A (p.Ala1398Thr)
|
SNV Germline |
Chr13:32338547 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579603 |
rs_876659902 |
3 SubmittersRCV000223165RCV003997991 |
|
NM_000059.4(BRCA2):c.4216A>G (p.Lys1406Glu)
|
SNV Germline |
Chr13:32338571 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579604 |
rs_876658735 |
2 SubmittersRCV000220122 |
|
NM_000059.4(BRCA2):c.4276A>G (p.Thr1426Ala)
|
SNV Germline |
Chr13:32338631 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579606 |
rs_876659380 |
2 SubmittersRCV000215135 |
|
NM_000059.4(BRCA2):c.4289C>T (p.Thr1430Ile)
|
SNV Germline |
Chr13:32338644 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579607 |
rs_876659247 |
5 SubmittersRCV000213473RCV000818006RCV003477733 |
|
NM_000059.4(BRCA2):c.4292C>T (p.Ala1431Val)
|
SNV Germline |
Chr13:32338647 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579608 |
rs_876659272 |
4 SubmittersRCV000217324RCV000526222RCV004998462 |
|
NM_000059.4(BRCA2):c.4300A>G (p.Lys1434Glu)
|
SNV Germline |
Chr13:32338655 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10579609 |
rs_876659616 |
4 SubmittersRCV000216344RCV000637731RCV005418021 |
|
NM_000059.4(BRCA2):c.4321G>C (p.Glu1441Gln)
|
SNV Germline |
Chr13:32338676 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10579610 |
rs_876659758 |
5 SubmittersRCV000223496RCV001238191RCV001800563 |
|
NM_000059.4(BRCA2):c.4355A>G (p.Gln1452Arg)
|
SNV Germline |
Chr13:32338710 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA10579612 |
rs_56317927 |
4 SubmittersRCV000219013RCV000483798RCV004532786 |
|
NM_000059.4(BRCA2):c.4366G>A (p.Glu1456Lys)
|
SNV Germline |
Chr13:32338721 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579613 |
rs_876659847 |
5 SubmittersRCV000213410RCV000478805RCV000637358RCV000989029 |
|
NM_000059.4(BRCA2):c.4427A>G (p.Asp1476Gly)
|
SNV Germline |
Chr13:32338782 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940780 |
rs_745425169 |
4 SubmittersRCV000220363RCV003644945RCV003998574 |
|
NM_000059.4(BRCA2):c.4450G>A (p.Asp1484Asn)
|
SNV Germline |
Chr13:32338805 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Pancreatic cancer, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579617 |
rs_876660070 |
4 SubmittersRCV000214723RCV000810885RCV005361324 |
|
NM_000059.4(BRCA2):c.4464C>G (p.His1488Gln)
|
SNV Germline |
Chr13:32338819 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579619 |
rs_786203743 |
3 SubmittersRCV000217795RCV001853559 |
|
NM_000059.4(BRCA2):c.4505A>G (p.Gln1502Arg)
|
SNV Germline |
Chr13:32338860 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579621 |
rs_876660919 |
3 SubmittersRCV000218589RCV003477777 |
|
NM_000059.4(BRCA2):c.4516T>C (p.Phe1506Leu)
|
SNV Germline |
Chr13:32338871 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA10579623 |
rs_876659011 |
5 SubmittersRCV000214758RCV000797532RCV003997885RCV005008163 |
|
NM_000059.4(BRCA2):c.4649A>G (p.Glu1550Gly)
|
SNV Germline |
Chr13:32339004 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579627 |
rs_876660887 |
5 SubmittersRCV000222967RCV000226204RCV001284571 |
|
NM_000059.4(BRCA2):c.4685A>C (p.Gln1562Pro)
|
SNV Germline |
Chr13:32339040 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940805 |
rs_544688816 |
7 SubmittersRCV000218490RCV000483116RCV000697106RCV003607260RCV004804863 |
|
NM_000059.4(BRCA2):c.4747A>G (p.Ile1583Val)
|
SNV Germline |
Chr13:32339102 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579629 |
rs_56072130 |
7 SubmittersRCV000216123RCV000424635RCV001223526RCV003997911 |
|
NM_000059.4(BRCA2):c.4765C>G (p.Pro1589Ala)
|
SNV Germline |
Chr13:32339120 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579630 |
rs_876660366 |
3 SubmittersRCV000213837RCV001063391 |
|
NM_000059.4(BRCA2):c.4782G>T (p.Met1594Ile)
|
SNV Germline |
Chr13:32339137 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10579631 |
rs_876658930 |
4 SubmittersRCV000222181RCV002054972RCV005230111 |
|
NM_000059.4(BRCA2):c.4790C>G (p.Ser1597Cys)
|
SNV Germline |
Chr13:32339145 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579632 |
rs_876660146 |
3 SubmittersRCV000218551RCV001244127 |
|
NM_000059.4(BRCA2):c.4796A>G (p.Asn1599Ser)
|
SNV Germline |
Chr13:32339151 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA10579633 |
rs_149759218 |
10 SubmittersRCV000222382RCV000230978RCV000238876RCV000590510RCV000501254 |
|
NM_000059.4(BRCA2):c.4817C>G (p.Ser1606Cys)
|
SNV Germline |
Chr13:32339172 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579634 |
rs_876659853 |
4 SubmittersRCV000221205RCV002515674RCV003477746 |
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
SNV Germline |
Chr13:32339180 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA10579635 |
rs_876659201 |
9 SubmittersRCV000220835RCV000459523RCV000763889RCV001283927RCV001358220RCV003150125 |
|
NM_000059.4(BRCA2):c.4960T>G (p.Cys1654Gly)
|
SNV Germline |
Chr13:32339315 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579640 |
rs_876659012 |
4 SubmittersRCV000218439RCV001059418RCV003997886 |
|
NM_000059.4(BRCA2):c.4967C>G (p.Thr1656Arg)
|
SNV Germline |
Chr13:32339322 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579641 |
rs_876659777 |
2 SubmittersRCV000222139 |
|
NM_000059.4(BRCA2):c.5021G>C (p.Ser1674Thr)
|
SNV Germline |
Chr13:32339376 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10579642 |
rs_876660602 |
4 SubmittersRCV000218484RCV000816027RCV003493533 |
|
NM_000059.4(BRCA2):c.5027G>A (p.Ser1676Asn)
|
SNV Germline |
Chr13:32339382 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579643 |
rs_876660686 |
2 SubmittersRCV000220171 |
|
NM_000059.4(BRCA2):c.5045G>A (p.Ser1682Asn)
|
SNV Germline |
Chr13:32339400 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA10579644 |
rs_41293493 |
6 SubmittersRCV000217172RCV000526805RCV001568510RCV002469078 |
|
NM_000059.4(BRCA2):c.5212A>T (p.Thr1738Ser)
|
SNV Germline |
Chr13:32339567 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA10579647 |
rs_876658357 |
5 SubmittersRCV000216747RCV001057975RCV003997799RCV004725074 |
|
NM_000059.4(BRCA2):c.5245T>C (p.Tyr1749His)
|
SNV Germline |
Chr13:32339600 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10579649 |
rs_876658731 |
4 SubmittersRCV000218601RCV001853520RCV004804877 |
|
NM_000059.4(BRCA2):c.5266G>C (p.Val1756Leu)
|
SNV Germline |
Chr13:32339621 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA10579650 |
rs_876659138 |
7 SubmittersRCV000221851RCV001303523RCV001284426RCV003330589 |
|
NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu)
|
SNV Germline |
Chr13:32339622 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940863 |
rs_770664957 |
6 SubmittersRCV000216072RCV000985541RCV001112466RCV001112024RCV001854705RCV005361346 |
|
NM_000059.4(BRCA2):c.5449T>G (p.Ser1817Ala)
|
SNV Germline |
Chr13:32339804 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579655 |
rs_876658566 |
7 SubmittersRCV000216871RCV001059265RCV001284431 |
|
NM_000059.4(BRCA2):c.5456C>T (p.Pro1819Leu)
|
SNV Germline |
Chr13:32339811 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10579656 |
rs_876659214 |
4 SubmittersRCV000222449RCV000811063RCV001526938 |
|
NM_000059.4(BRCA2):c.5553C>G (p.Ile1851Met)
|
SNV Germline |
Chr13:32339908 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940885 |
rs_573514896 |
6 SubmittersRCV000215045RCV000239014RCV000587837RCV001359833 |
|
NM_000059.4(BRCA2):c.5605A>G (p.Ser1869Gly)
|
SNV Germline |
Chr13:32339960 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579657 |
rs_876659256 |
4 SubmittersRCV000218600RCV001351506RCV003493520 |
|
NM_000059.4(BRCA2):c.5654G>T (p.Cys1885Phe)
|
SNV Germline |
Chr13:32340009 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579659 |
rs_876660854 |
2 SubmittersRCV000221787 |
|
NM_000059.4(BRCA2):c.5674G>T (p.Gly1892Cys)
|
SNV Germline |
Chr13:32340029 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579661 |
rs_786203948 |
2 SubmittersRCV000216717 |
|
NM_000059.4(BRCA2):c.5693A>G (p.Asp1898Gly)
|
SNV Germline |
Chr13:32340048 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579662 |
rs_876658786 |
8 SubmittersRCV000221842RCV001547277RCV000637792RCV002228952RCV003997859 |
|
NM_000059.4(BRCA2):c.5694T>G (p.Asp1898Glu)
|
SNV Germline |
Chr13:32340049 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579663 |
rs_876658756 |
5 SubmittersRCV000220876RCV000813129RCV005600835 |
|
NM_000059.4(BRCA2):c.5699C>G (p.Ser1900Ter)
|
SNV Germline |
Chr13:32340054 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA10579664 |
rs_397507797 |
4 SubmittersRCV000215854RCV000661849RCV001854723RCV003475041 |
|
NM_000059.4(BRCA2):c.5707A>G (p.Ile1903Val)
|
SNV Germline |
Chr13:32340062 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579665 |
rs_431825333 |
5 SubmittersRCV000220000RCV000759628RCV000791836RCV003991026 |
|
NM_000059.4(BRCA2):c.5719T>A (p.Ser1907Thr)
|
SNV Germline |
Chr13:32340074 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579666 |
rs_753445027 |
3 SubmittersRCV000220788RCV003644942 |
|
NM_000059.4(BRCA2):c.5725G>A (p.Asp1909Asn)
|
SNV Germline |
Chr13:32340080 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579668 |
rs_764827027 |
4 SubmittersRCV000215216RCV001055003 |
|
NM_000059.4(BRCA2):c.5888G>A (p.Gly1963Glu)
|
SNV Germline |
Chr13:32340243 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579670 |
rs_876659836 |
4 SubmittersRCV000213567RCV001853593RCV004998469 |
|
NM_000059.4(BRCA2):c.5992C>G (p.Gln1998Glu)
|
SNV Germline |
Chr13:32340347 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579673 |
rs_397507819 |
3 SubmittersRCV000220234RCV000484598 |
|
NM_000059.4(BRCA2):c.6014A>G (p.Asp2005Gly)
|
SNV Germline |
Chr13:32340369 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10579674 |
rs_876658259 |
4 SubmittersRCV000214421RCV000691490RCV004804862 |
|
NM_000059.4(BRCA2):c.6038A>G (p.Lys2013Arg)
|
SNV Germline |
Chr13:32340393 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579676 |
rs_876660593 |
3 SubmittersRCV000213457RCV002298542 |
|
NM_000059.4(BRCA2):c.6092C>G (p.Thr2031Ser)
|
SNV Germline |
Chr13:32340447 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579678 |
rs_876658761 |
3 SubmittersRCV000217731RCV003644937 |
|
NM_000059.4(BRCA2):c.6119T>C (p.Ile2040Thr)
|
SNV Germline |
Chr13:32340474 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579679 |
rs_876659473 |
4 SubmittersRCV000216340RCV000467262RCV000589937 |
|
NM_000059.4(BRCA2):c.6170G>T (p.Gly2057Val)
|
SNV Germline |
Chr13:32340525 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579682 |
rs_876660308 |
5 SubmittersRCV000213853RCV000637797RCV003321552RCV004591013 |
|
NM_000059.4(BRCA2):c.6195A>C (p.Gln2065His)
|
SNV Germline |
Chr13:32340550 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579683 |
rs_876658875 |
3 SubmittersRCV000213428 |
|
NM_000059.4(BRCA2):c.6212G>C (p.Ser2071Thr)
|
SNV Germline |
Chr13:32340567 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940934 |
rs_80358861 |
5 SubmittersRCV000220310RCV000532875 |
|
NM_000059.4(BRCA2):c.6238T>G (p.Leu2080Val)
|
SNV Germline |
Chr13:32340593 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579685 |
rs_876658993 |
5 SubmittersRCV000220359RCV002282058RCV001562948RCV002518295 |
|
NM_000059.4(BRCA2):c.6316C>T (p.Leu2106Phe)
|
SNV Germline |
Chr13:32340671 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579687 |
rs_876660892 |
3 SubmittersRCV000215218 |
|
NM_000059.4(BRCA2):c.6331A>G (p.Lys2111Glu)
|
SNV Germline |
Chr13:32340686 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940945 |
rs_773211804 |
9 SubmittersRCV000466720RCV000663128RCV000221895RCV004017526 |
|
NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)
|
SNV Germline |
Chr13:32340702 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579690 |
rs_55953736 |
8 SubmittersRCV000219720RCV001535551RCV005361308RCV001071124RCV001311839RCV003997951 |
|
NM_000059.4(BRCA2):c.6351T>A (p.Cys2117Ter)
|
SNV Germline |
Chr13:32340706 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10579691 |
rs_876659368 |
2 SubmittersRCV000221121RCV000661437 |
|
NM_000059.4(BRCA2):c.6379A>C (p.Ser2127Arg)
|
SNV Germline |
Chr13:32340734 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579692 |
rs_876660938 |
5 SubmittersRCV000213262RCV001303378RCV003998609 |
|
NM_000059.4(BRCA2):c.6419G>T (p.Gly2140Val)
|
SNV Germline |
Chr13:32340774 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579693 |
rs_876659898 |
2 SubmittersRCV000214465 |
|
NM_000059.4(BRCA2):c.6450A>C (p.Lys2150Asn)
|
SNV Germline |
Chr13:32340805 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10579696 |
rs_876658814 |
5 SubmittersRCV000215239RCV000555951RCV000780002RCV004804880 |
|
NM_000059.4(BRCA2):c.6463C>T (p.Leu2155Phe)
|
SNV Germline |
Chr13:32340818 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579697 |
rs_775035051 |
2 SubmittersRCV000222965 |
|
NM_000059.4(BRCA2):c.6469C>G (p.Gln2157Glu)
|
SNV Germline |
Chr13:32340824 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579698 |
rs_397507859 |
9 SubmittersRCV000214385RCV000462334RCV000483077RCV000767191RCV003607259RCV003997780 |
|
NM_000059.4(BRCA2):c.6521T>C (p.Val2174Ala)
|
SNV Germline |
Chr13:32340876 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579699 |
rs_876659448 |
6 SubmittersRCV000214298RCV000558925RCV000779957RCV004998464 |
|
NM_000059.4(BRCA2):c.6524A>G (p.Glu2175Gly)
|
SNV Germline |
Chr13:32340879 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579700 |
rs_876660314 |
2 SubmittersRCV000215008 |
|
NM_000059.4(BRCA2):c.6532C>G (p.His2178Asp)
|
SNV Germline |
Chr13:32340887 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940966 |
rs_80358885 |
3 SubmittersRCV000219518RCV001853610 |
|
NM_000059.4(BRCA2):c.6535G>C (p.Val2179Leu)
|
SNV Germline |
Chr13:32340890 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579701 |
rs_876658443 |
2 SubmittersRCV000218799 |
|
NM_000059.4(BRCA2):c.6568G>T (p.Val2190Leu)
|
SNV Germline |
Chr13:32340923 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6940968 |
rs_80358888 |
4 SubmittersRCV000222390RCV000794072RCV001193750 |
|
NM_000059.4(BRCA2):c.6581T>C (p.Ile2194Thr)
|
SNV Germline |
Chr13:32340936 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579703 |
rs_876660049 |
6 SubmittersRCV000215118RCV001340631RCV003493528 |
|
NM_000059.4(BRCA2):c.6715G>A (p.Glu2239Lys)
|
SNV Germline |
Chr13:32341070 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast neoplasm |
Criteria Provided Conflicting Classifications |
CA10579706 |
rs_276174876 |
3 SubmittersRCV000221713RCV000677826 |
|
NM_000059.4(BRCA2):c.6728C>G (p.Ser2243Cys)
|
SNV Germline |
Chr13:32341083 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10579707 |
rs_876659031 |
5 SubmittersRCV000221235RCV001055505RCV002247650 |
|
NM_000059.4(BRCA2):c.6733C>A (p.Leu2245Met)
|
SNV Germline |
Chr13:32341088 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579709 |
rs_876658421 |
2 SubmittersRCV000219349 |
|
NM_000059.4(BRCA2):c.6755C>G (p.Ser2252Cys)
|
SNV Germline |
Chr13:32341110 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579710 |
rs_876658504 |
4 SubmittersRCV000217607RCV000687819 |
|
NM_000059.4(BRCA2):c.6781G>T (p.Glu2261Ter)
|
SNV Germline |
Chr13:32341136 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA10579711 |
rs_876660812 |
3 SubmittersRCV000216619RCV000661548RCV004998488 |
|
NM_000059.4(BRCA2):c.7039C>G (p.Pro2347Ala)
|
SNV Germline |
Chr13:32354892 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA10579720 |
rs_876660668 |
5 SubmittersRCV000221584RCV000552298RCV001812637RCV003491987 |
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
SNV Germline |
Chr13:32355213 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579734 |
rs_876660249 |
7 SubmittersRCV000221214RCV001284103RCV001363273RCV002485429RCV003998036 |
|
NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)
|
SNV Germline |
Chr13:32355219 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided |
Reviewed By Expert Panel |
CA10579735 |
rs_397507912 |
9 SubmittersRCV000257405RCV000220866RCV000637747RCV003462523RCV003488478 |
|
NM_000059.4(BRCA2):c.7435+5T>C
|
SNV Germline |
Chr13:32355293 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA10579737 |
rs_775973095 |
5 SubmittersRCV000220618RCV000239195RCV000556162RCV003150121 |
|
NM_000059.4(BRCA2):c.7516C>T (p.Gln2506Ter)
|
SNV Germline |
Chr13:32356508 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10579742 |
rs_876658631 |
6 SubmittersRCV000215458RCV000256919RCV000496223 |
|
NM_000059.4(BRCA2):c.7547C>T (p.Ser2516Phe)
|
SNV Germline |
Chr13:32356539 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6941107 |
rs_571800995 |
7 SubmittersRCV000217254RCV000506211RCV000662938RCV000697908RCV004804911 |
|
NM_000059.4(BRCA2):c.7606T>C (p.Ser2536Pro)
|
SNV Germline |
Chr13:32356598 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579746 |
rs_169548 |
2 SubmittersRCV000218857 |
|
NM_000059.4(BRCA2):c.7683G>C (p.Gln2561His)
|
SNV Germline |
Chr13:32357807 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579748 |
rs_786201304 |
2 SubmittersRCV000214747RCV003530011 |
|
NM_000059.4(BRCA2):c.7711G>A (p.Glu2571Lys)
|
SNV Germline |
Chr13:32357835 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10579750 |
rs_876659501 |
4 SubmittersRCV000220452RCV000662909RCV001069086RCV003150983 |
|
NM_000059.4(BRCA2):c.7744G>A (p.Ala2582Thr)
|
SNV Germline |
Chr13:32357868 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579751 |
rs_876660384 |
3 SubmittersRCV000219913RCV000463676 |
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
SNV Germline |
Chr13:32357905 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579754 |
rs_876660874 |
9 SubmittersRCV000220613RCV000479011RCV000637678RCV000765138RCV003998603 |
|
NM_000059.4(BRCA2):c.7783G>A (p.Ala2595Thr)
|
SNV Germline |
Chr13:32357907 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579755 |
rs_80359007 |
6 SubmittersRCV000215916RCV001253637RCV001370818RCV003463602RCV004591036 |
|
NM_000059.4(BRCA2):c.7795G>A (p.Glu2599Lys)
|
SNV Germline |
Chr13:32357919 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579756 |
rs_41293509 |
3 SubmittersRCV000223559RCV001067846RCV002225522 |
|
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val)
|
SNV Germline |
Chr13:32362543 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10579757 |
rs_80359009 |
7 SubmittersRCV000216317RCV000556406RCV000255714RCV004567605 |
|
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn)
|
SNV Germline |
Chr13:32362597 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10579758 |
rs_876658736 |
3 SubmittersRCV000213139RCV001311841RCV001042596 |
|
NM_000059.4(BRCA2):c.7884A>G (p.Ile2628Met)
|
SNV Germline |
Chr13:32362601 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6941162 |
rs_529779203 |
4 SubmittersRCV000216002RCV000521359RCV000689119RCV005361349 |
|
NM_000059.4(BRCA2):c.7891C>A (p.Leu2631Met)
|
SNV Germline |
Chr13:32362608 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579759 |
rs_876660528 |
4 SubmittersRCV000217903RCV001854701RCV002469079RCV004567646 |
|
NM_000059.4(BRCA2):c.7912T>C (p.Phe2638Leu)
|
SNV Germline |
Chr13:32362629 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10579760 |
rs_876658206 |
4 SubmittersRCV000213845RCV000824395RCV005365146 |
|
NM_000059.4(BRCA2):c.7933A>G (p.Arg2645Gly)
|
SNV Germline |
Chr13:32362650 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579761 |
rs_876658889 |
6 SubmittersRCV000222813RCV000552479RCV001193806RCV000759664RCV003997876 |
|
NM_000059.4(BRCA2):c.7976+4A>G
|
SNV Germline |
Chr13:32362697 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579762 |
rs_876659445 |
2 SubmittersRCV000215910RCV003644943 |
|
NM_000059.4(BRCA2):c.8040C>G (p.Asp2680Glu)
|
SNV Germline |
Chr13:32363242 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579765 |
rs_876660013 |
6 SubmittersRCV000218538RCV000535538RCV001753675RCV004567618 |
|
NM_000059.4(BRCA2):c.8102C>G (p.Ser2701Cys)
|
SNV Germline |
Chr13:32363304 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579767 |
rs_876660229 |
3 SubmittersRCV000221838RCV000462721RCV000759670 |
|
NM_000059.4(BRCA2):c.8150C>T (p.Ala2717Val)
|
SNV Germline |
Chr13:32363352 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579768 |
rs_876659220 |
3 SubmittersRCV000218823RCV000818965 |
|
NM_000059.4(BRCA2):c.8165C>A (p.Thr2722Lys)
|
SNV Germline |
Chr13:32363367 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA10579769 |
rs_80359062 |
3 SubmittersRCV000219871RCV001853527RCV004791339 |
|
NM_000059.4(BRCA2):c.8192A>G (p.Gln2731Arg)
|
SNV Germline |
Chr13:32363394 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6941197 |
rs_753837544 |
4 SubmittersRCV000213899RCV000239285RCV000465649 |
|
NM_000059.4(BRCA2):c.8201C>T (p.Pro2734Leu)
|
SNV Germline |
Chr13:32363403 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder BRCA2-related cancer predisposition Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579771 |
rs_876658732 |
5 SubmittersRCV000223518RCV000558611RCV004532781RCV004804878RCV004567528 |
|
NM_000059.4(BRCA2):c.8215G>C (p.Val2739Leu)
|
SNV Germline |
Chr13:32363417 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6941198 |
rs_80359069 |
3 SubmittersRCV000222709RCV000637629 |
|
NM_000059.4(BRCA2):c.8215G>T (p.Val2739Phe)
|
SNV Germline |
Chr13:32363417 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6941199 |
rs_80359069 |
6 SubmittersRCV000221702RCV000485331RCV000699496RCV003401136 |
|
NM_000059.4(BRCA2):c.8324T>A (p.Met2775Lys)
|
SNV Germline |
Chr13:32363526 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA10579775 |
rs_80359073 |
7 SubmittersRCV000222038RCV000409541RCV001853507RCV005430513 |
|
NM_000059.4(BRCA2):c.8331+2T>G
|
SNV Germline |
Chr13:32363535 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA10579777 |
rs_398122602 |
5 SubmittersRCV000217152RCV001215392RCV004760445RCV005361276 |
|
NM_000059.4(BRCA2):c.8404C>G (p.Pro2802Ala)
|
SNV Germline |
Chr13:32370474 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579782 |
rs_876659273 |
3 SubmittersRCV000221655RCV002515631RCV003997916 |
|
NM_000059.4(BRCA2):c.8430T>G (p.Ser2810Arg)
|
SNV Germline |
Chr13:32370500 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10579785 |
rs_876658487 |
2 SubmittersRCV000214305 |
|
NM_000059.4(BRCA2):c.8440A>G (p.Asn2814Asp)
|
SNV Germline |
Chr13:32370510 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA2-related disorder BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10579786 |
rs_876660312 |
8 SubmittersRCV000213395RCV001054105RCV001280582RCV001770183RCV004725090RCV004804922 |
|
NM_000059.4(BRCA2):c.8468A>G (p.Gln2823Arg)
|
SNV Germline |
Chr13:32370538 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10579788 |
rs_876660101 |
7 SubmittersRCV000221719RCV000458714RCV000588882RCV004804913 |
|
NM_000059.4(BRCA2):c.8479C>G (p.Pro2827Ala)
|
SNV Germline |
Chr13:32370549 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579789 |
rs_786202484 |
3 SubmittersRCV000219415RCV000457355 |
|
NM_000059.4(BRCA2):c.8488-5T>C
|
SNV Germline |
Chr13:32370951 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA6941250 |
rs_533806629 |
12 SubmittersRCV000213120RCV000504448RCV000590772RCV001087971RCV001770176RCV003150122 |
|
NM_000059.4(BRCA2):c.8494G>C (p.Glu2832Gln)
|
SNV Germline |
Chr13:32370962 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579790 |
rs_876658951 |
4 SubmittersRCV000214685RCV001358025RCV001853538 |
|
NM_000059.4(BRCA2):c.8527A>G (p.Asn2843Asp)
|
SNV Germline |
Chr13:32370995 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579792 |
rs_876660403 |
8 SubmittersRCV000219865RCV000483025RCV000541298RCV004804925RCV005420844 |
|
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)
|
SNV Germline |
Chr13:32370998 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6941257 |
rs_755783122 |
8 SubmittersRCV000215245RCV000232530RCV000307069RCV000662587RCV000503308RCV003477718 |
|
NM_000059.4(BRCA2):c.8551G>T (p.Ala2851Ser)
|
SNV Germline |
Chr13:32371019 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10579793 |
rs_876658592 |
8 SubmittersRCV000223606RCV000697939RCV001775680RCV003462437RCV004800342RCV004804873 |
|
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys)
|
SNV Germline |
Chr13:32376723 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast and/or ovarian cancer Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA6941285 |
rs_373203204 |
14 SubmittersRCV000223550RCV000257957RCV000499406RCV000768609RCV001795355RCV003234773RCV003475018 |
|
NM_000059.4(BRCA2):c.8737G>C (p.Asp2913His)
|
SNV Germline |
Chr13:32376774 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Familial cancer of breast BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA6941288 |
rs_144322424 |
7 SubmittersRCV000216210RCV000527864RCV000586685RCV001731446RCV004567566RCV004732796 |
|
NM_000059.4(BRCA2):c.8740C>G (p.Pro2914Ala)
|
SNV Germline |
Chr13:32376777 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579797 |
rs_876660226 |
5 SubmittersRCV000219964RCV001228457RCV003477756RCV003475029 |
|
NM_000059.4(BRCA2):c.8771A>G (p.Glu2924Gly)
|
SNV Germline |
Chr13:32379333 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579798 |
rs_876658844 |
6 SubmittersRCV000213436RCV000690114RCV001778806RCV002286723RCV003997870 |
|
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr)
|
SNV Germline |
Chr13:32379360 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA6941300 |
rs_553440338 |
8 SubmittersRCV000223494RCV000637645RCV001528588RCV003475038 |
|
NM_000059.4(BRCA2):c.8897T>C (p.Val2966Ala)
|
SNV Germline |
Chr13:32379459 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided 8 conditions |
Criteria Provided Conflicting Classifications |
CA10579801 |
rs_876658955 |
5 SubmittersRCV000216219RCV000637359RCV001357680RCV005008162 |
|
NM_000059.4(BRCA2):c.8928C>G (p.Ser2976Arg)
|
SNV Germline |
Chr13:32379490 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast BRCA2-related disorder Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579802 |
rs_771267741 |
9 SubmittersRCV000217481RCV000365940RCV000463522RCV001260351RCV003475030RCV004732797RCV005213239 |
|
NM_000059.4(BRCA2):c.9179T>G (p.Phe3060Cys)
|
SNV Germline |
Chr13:32380068 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579813 |
rs_876659750 |
2 SubmittersRCV000222844RCV001297705 |
|
NM_000059.4(BRCA2):c.9209C>G (p.Ser3070Cys)
|
SNV Germline |
Chr13:32380098 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579817 |
rs_747837583 |
2 SubmittersRCV000216286RCV003644933 |
|
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr)
|
SNV Germline |
Chr13:32380106 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579818 |
rs_876658262 |
3 SubmittersRCV000220645RCV002518246 |
|
NM_000059.4(BRCA2):c.9248A>G (p.Lys3083Arg)
|
SNV Germline |
Chr13:32380137 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579821 |
rs_876658793 |
3 SubmittersRCV000219940RCV001853526 |
|
NM_000059.4(BRCA2):c.9259C>A (p.Leu3087Ile)
|
SNV Germline |
Chr13:32394691 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579822 |
rs_876660803 |
4 SubmittersRCV000217149RCV001326010RCV002281071 |
|
NM_000059.4(BRCA2):c.9331G>A (p.Glu3111Lys)
|
SNV Germline |
Chr13:32394763 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10579825 |
rs_397508047 |
5 SubmittersRCV000214353RCV000985624RCV001296898RCV004804867 |
|
NM_000059.4(BRCA2):c.9350A>G (p.His3117Arg)
|
SNV Germline |
Chr13:32394782 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA10579828 |
rs_80359206 |
7 SubmittersRCV000219723RCV000698559RCV001800567RCV003128600RCV003998008RCV005008168 |
|
NM_000059.4(BRCA2):c.9356T>A (p.Leu3119Ter)
|
SNV Germline |
Chr13:32394788 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Reviewed By Expert Panel |
CA10579829 |
rs_80359207 |
4 SubmittersRCV000215065RCV000256908RCV004567627 |
|
NM_000059.4(BRCA2):c.9398C>T (p.Ser3133Leu)
|
SNV Germline |
Chr13:32394830 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10579830 |
rs_876659439 |
6 SubmittersRCV000218662RCV000482847RCV001853565RCV004804893RCV005361305 |
|
NM_000059.4(BRCA2):c.9409A>G (p.Thr3137Ala)
|
SNV Germline |
Chr13:32394841 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6941382 |
rs_746036918 |
3 SubmittersRCV000216090RCV001853583RCV003997952 |
|
NM_000059.4(BRCA2):c.9490A>G (p.Asn3164Asp)
|
SNV Germline |
Chr13:32394922 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10579833 |
rs_876658597 |
4 SubmittersRCV000218527RCV000637427RCV003462439 |
|
NM_000059.4(BRCA2):c.9497T>C (p.Val3166Ala)
|
SNV Germline |
Chr13:32394929 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579834 |
rs_876658721 |
3 SubmittersRCV000217879RCV003530012 |
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
SNV Germline |
Chr13:32396926 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided 8 conditions not specified |
Criteria Provided Conflicting Classifications |
CA10579835 |
rs_876658365 |
11 SubmittersRCV000222361RCV000239286RCV000550708RCV000758978RCV000765144RCV000780013 |
|
NM_000059.4(BRCA2):c.9550C>G (p.Leu3184Val)
|
SNV Germline |
Chr13:32396946 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579836 |
rs_876660551 |
4 SubmittersRCV000221965RCV001204824RCV001589158 |
|
NM_000059.4(BRCA2):c.9571T>C (p.Trp3191Arg)
|
SNV Germline |
Chr13:32396967 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579839 |
rs_876658351 |
4 SubmittersRCV000218164RCV001284455RCV001853510 |
|
NM_000059.4(BRCA2):c.9911G>A (p.Cys3304Tyr)
|
SNV Germline |
Chr13:32398424 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA10579850 |
rs_876658506 |
5 SubmittersRCV000223068RCV000551258RCV004783765RCV005055757 |
|
NM_000059.4(BRCA2):c.10159A>G (p.Thr3387Ala)
|
SNV Germline |
Chr13:32398672 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA10579859 |
rs_786202571 |
4 SubmittersRCV000217613RCV001219199RCV003493516RCV005008161 |
|
NM_000059.4(BRCA2):c.10189T>A (p.Ser3397Thr)
|
SNV Germline |
Chr13:32398702 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10579861 |
rs_876660044 |
3 SubmittersRCV000220269RCV000231576 |
|
NM_000059.4(BRCA2):c.*2C>T
|
SNV Germline |
Chr13:32398772 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10579863 |
rs_876659266 |
3 SubmittersRCV000214689RCV000759568 |
|
NM_000059.4(BRCA2):c.682-2A>G
|
SNV Germline |
Chr13:32330917 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10581585 |
rs_878853287 |
5 SubmittersRCV000225520RCV001188662RCV001854790 |
|
NM_000059.4(BRCA2):c.316+13A>G
|
SNV Germline |
Chr13:32319338 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA6940341 |
rs_773097109 |
8 SubmittersRCV000229296RCV000378354RCV000579746RCV000607980RCV000586995RCV001094073RCV001357840 |
|
NM_000059.4(BRCA2):c.632-13T>G
|
SNV Germline |
Chr13:32329430 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6940419 |
rs_775947267 |
6 SubmittersRCV000588227RCV000663299RCV001083428RCV001186865RCV005238753 |
|
NM_000059.4(BRCA2):c.898G>A (p.Val300Ile)
|
SNV Germline |
Chr13:32332376 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Malignant tumor of breast Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA10583070 |
rs_878853616 |
7 SubmittersRCV000226110RCV000504390RCV000567574RCV002510825RCV005418026 |
|
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg)
|
SNV Germline |
Chr13:32332499 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940483 |
rs_55833327 |
13 SubmittersRCV000226133RCV000443327RCV000510111RCV000732589RCV003998697RCV003491993RCV005361373 |
|
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)
|
SNV Germline |
Chr13:32332667 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Breast carcinoma |
Reviewed By Expert Panel |
CA10583071 |
rs_760815829 |
8 SubmittersRCV000227783RCV000240964RCV000585716RCV002347854RCV001284072RCV001564014 |
|
NM_000059.4(BRCA2):c.1204G>T (p.Gly402Cys)
|
SNV Germline |
Chr13:32332682 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10583072 |
rs_878853556 |
3 SubmittersRCV000233622RCV003157472RCV005238752 |
|
NM_000059.4(BRCA2):c.1282C>G (p.Leu428Val)
|
SNV Germline |
Chr13:32332760 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10583073 |
rs_547590567 |
5 SubmittersRCV000227331RCV000583967RCV000985463 |
|
NM_000059.4(BRCA2):c.1813A>T (p.Ile605Leu)
|
SNV Germline |
Chr13:32333291 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583075 |
rs_878853557 |
3 SubmittersRCV000232350RCV002408946 |
|
NM_000059.4(BRCA2):c.2077T>C (p.Cys693Arg)
|
SNV Germline |
Chr13:32336432 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA10583076 |
rs_878853558 |
7 SubmittersRCV000226849RCV000565629RCV000759587RCV001175562 |
|
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)
|
SNV Germline |
Chr13:32336450 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Breast neoplasm Hereditary cancer-predisposing syndrome Familial cancer of breast BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA10583077 |
rs_878853559 |
15 SubmittersRCV000229702RCV000256526RCV000482408RCV000494713RCV000510002RCV003475054RCV004804942 |
|
NM_000059.4(BRCA2):c.2239G>T (p.Glu747Ter)
|
SNV Germline |
Chr13:32336594 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10583079 |
rs_878853561 |
3 SubmittersRCV000229810RCV000661458RCV002429087 |
|
NM_000059.4(BRCA2):c.2257T>C (p.Phe753Leu)
|
SNV Germline |
Chr13:32336612 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583080 |
rs_878853562 |
2 SubmittersRCV000232533RCV003157473 |
|
NM_000059.4(BRCA2):c.2383T>A (p.Ser795Thr)
|
SNV Germline |
Chr13:32336738 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583081 |
rs_878853563 |
3 SubmittersRCV000233344RCV001775697RCV003157474 |
|
NM_000059.4(BRCA2):c.2729A>G (p.His910Arg)
|
SNV Germline |
Chr13:32337084 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Familial pancreatic carcinoma Familial colorectal cancer type X |
Criteria Provided Conflicting Classifications |
CA6940625 |
rs_760792501 |
6 SubmittersRCV000228411RCV000509934RCV000989017RCV002282067RCV005361374 |
|
NM_000059.4(BRCA2):c.2787A>T (p.Leu929Phe)
|
SNV Germline |
Chr13:32337142 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583084 |
rs_878853564 |
3 SubmittersRCV000233984RCV003157475 |
|
NM_000059.4(BRCA2):c.2837A>T (p.Asp946Val)
|
SNV Germline |
Chr13:32337192 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10583085 |
rs_55972907 |
5 SubmittersRCV000226769RCV002433944RCV003998698RCV004998503 |
|
NM_000059.4(BRCA2):c.3007C>G (p.His1003Asp)
|
SNV Germline |
Chr13:32337362 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10583086 |
rs_878853565 |
6 SubmittersRCV000229829RCV000509749RCV001731456 |
|
NM_000059.4(BRCA2):c.3329A>G (p.Glu1110Gly)
|
SNV Germline |
Chr13:32337684 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940689 |
rs_587782072 |
6 SubmittersRCV000233349RCV000236778RCV001019997 |
|
NM_000059.4(BRCA2):c.3484G>A (p.Ala1162Thr)
|
SNV Germline |
Chr13:32337839 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583090 |
rs_878853570 |
4 SubmittersRCV000229011RCV000583068 |
|
NM_000059.4(BRCA2):c.3583C>A (p.Leu1195Met)
|
SNV Germline |
Chr13:32337938 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10583091 |
rs_878853571 |
3 SubmittersRCV000234717RCV003157476RCV005361375 |
|
NM_000059.4(BRCA2):c.3826G>C (p.Glu1276Gln)
|
SNV Germline |
Chr13:32338181 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583095 |
rs_878853575 |
2 SubmittersRCV000231554RCV003157477 |
|
NM_000059.4(BRCA2):c.3958G>A (p.Glu1320Lys)
|
SNV Germline |
Chr13:32338313 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583097 |
rs_80358644 |
4 SubmittersRCV000231743RCV000509619 |
|
NM_000059.4(BRCA2):c.4076C>T (p.Thr1359Ile)
|
SNV Germline |
Chr13:32338431 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10583099 |
rs_878853578 |
6 SubmittersRCV000230157RCV000759613RCV000772157RCV003998699 |
|
NM_000059.4(BRCA2):c.4127G>T (p.Gly1376Val)
|
SNV Germline |
Chr13:32338482 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940752 |
rs_780458959 |
7 SubmittersRCV000233089RCV000773181RCV001788090RCV004701304 |
|
NM_000059.4(BRCA2):c.4240A>G (p.Thr1414Ala)
|
SNV Germline |
Chr13:32338595 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583102 |
rs_878853581 |
6 SubmittersRCV000228724RCV000662562RCV001818557RCV003157478 |
|
NM_000059.4(BRCA2):c.4261T>C (p.Phe1421Leu)
|
SNV Germline |
Chr13:32338616 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583103 |
rs_878853582 |
3 SubmittersRCV000231637RCV000572245 |
|
NM_000059.4(BRCA2):c.4305T>G (p.Asn1435Lys)
|
SNV Germline |
Chr13:32338660 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583104 |
rs_878853583 |
2 SubmittersRCV000228914RCV003157479 |
|
NM_000059.4(BRCA2):c.4367A>C (p.Glu1456Ala)
|
SNV Germline |
Chr13:32338722 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583105 |
rs_878853584 |
3 SubmittersRCV000231677RCV001180477 |
|
NM_000059.4(BRCA2):c.4670C>T (p.Thr1557Ile)
|
SNV Germline |
Chr13:32339025 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer not specified |
Criteria Provided Conflicting Classifications |
CA10583106 |
rs_80358698 |
7 SubmittersRCV000233033RCV000565644RCV000735554RCV001553616 |
|
NM_000059.4(BRCA2):c.4707C>A (p.Tyr1569Ter)
|
SNV Germline |
Chr13:32339062 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10583107 |
rs_878853585 |
4 SubmittersRCV000227511RCV000661533RCV000758897RCV004601134 |
|
NM_000059.4(BRCA2):c.4729G>C (p.Glu1577Gln)
|
SNV Germline |
Chr13:32339084 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583109 |
rs_878853586 |
2 SubmittersRCV000233214RCV003157480 |
|
NM_000059.4(BRCA2):c.5002G>C (p.Ala1668Pro)
|
SNV Germline |
Chr13:32339357 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10583110 |
rs_587782182 |
5 SubmittersRCV000233949RCV000772343RCV004767181 |
|
NM_000059.4(BRCA2):c.5103A>C (p.Gln1701His)
|
SNV Germline |
Chr13:32339458 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583111 |
rs_878853587 |
2 SubmittersRCV000234682RCV003157481 |
|
NM_000059.4(BRCA2):c.5115A>G (p.Ile1705Met)
|
SNV Germline |
Chr13:32339470 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA10583112 |
rs_878853588 |
7 SubmittersRCV000228444RCV000571938RCV003234775RCV005008181 |
|
NM_000059.4(BRCA2):c.5312G>T (p.Gly1771Val)
|
SNV Germline |
Chr13:32339667 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10583113 |
rs_80358755 |
6 SubmittersRCV000228622RCV000580812RCV000735563RCV004591081 |
|
NM_000059.4(BRCA2):c.5538A>G (p.Ile1846Met)
|
SNV Germline |
Chr13:32339893 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583115 |
rs_878853590 |
2 SubmittersRCV000225936RCV003157482 |
|
NM_000059.4(BRCA2):c.5770A>G (p.Ile1924Val)
|
SNV Germline |
Chr13:32340125 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940901 |
rs_779020831 |
5 SubmittersRCV000230760RCV002354630RCV003477784RCV004804943 |
|
NM_000059.4(BRCA2):c.5798A>G (p.Asn1933Ser)
|
SNV Germline |
Chr13:32340153 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583116 |
rs_878853591 |
4 SubmittersRCV000234676RCV001024537 |
|
NM_000059.4(BRCA2):c.5924G>C (p.Cys1975Ser)
|
SNV Germline |
Chr13:32340279 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940912 |
rs_767378196 |
5 SubmittersRCV000226437RCV001183818RCV005361376 |
|
NM_000059.4(BRCA2):c.6411T>A (p.Asn2137Lys)
|
SNV Germline |
Chr13:32340766 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583120 |
rs_878853597 |
5 SubmittersRCV000233748RCV001194026RCV002365171 |
|
NM_000059.4(BRCA2):c.6428C>A (p.Ser2143Ter)
|
SNV Germline |
Chr13:32340783 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Reviewed By Expert Panel |
CA10583121 |
rs_149330893 |
6 SubmittersRCV000230879RCV000241501RCV000573709RCV001528507 |
|
NM_000059.4(BRCA2):c.6689T>C (p.Ile2230Thr)
|
SNV Germline |
Chr13:32341044 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583122 |
rs_878853598 |
3 SubmittersRCV000232224RCV003157484 |
|
NM_000059.4(BRCA2):c.7007+1G>A
|
SNV Germline |
Chr13:32346897 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA10583124 |
rs_397507891 |
3 SubmittersRCV000232637RCV001184077RCV001800585 |
|
NM_000059.4(BRCA2):c.7478T>G (p.Met2493Arg)
|
SNV Germline |
Chr13:32356470 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA10583131 |
rs_863224597 |
6 SubmittersRCV000231954RCV000238726RCV001026480RCV003475055RCV004998504RCV004732804 |
|
NM_000059.4(BRCA2):c.7630G>C (p.Gly2544Arg)
|
SNV Germline |
Chr13:32357754 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10583133 |
rs_587781485 |
7 SubmittersRCV000225896RCV000580094RCV001199884RCV003235150RCV003998701 |
|
NM_000059.4(BRCA2):c.8191C>G (p.Gln2731Glu)
|
SNV Germline |
Chr13:32363393 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10583138 |
rs_397507966 |
6 SubmittersRCV000225930RCV002429088RCV004567706RCV005603613 |
|
NM_000059.4(BRCA2):c.8253T>G (p.Ile2751Met)
|
SNV Germline |
Chr13:32363455 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10583140 |
rs_757501907 |
4 SubmittersRCV000228771RCV000569622RCV003998702RCV004719778 |
|
NM_000059.4(BRCA2):c.8365T>C (p.Tyr2789His)
|
SNV Germline |
Chr13:32370435 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10583141 |
rs_878853609 |
3 SubmittersRCV000232896RCV003228916RCV004020740 |
|
NM_000059.4(BRCA2):c.8881G>A (p.Gly2961Ser)
|
SNV Germline |
Chr13:32379443 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast carcinoma Familial cancer of breast Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10583147 |
rs_878853614 |
8 SubmittersRCV000228865RCV000564860RCV000589058RCV001564015RCV004567707RCV005361377 |
|
NM_000059.4(BRCA2):c.3098A>T (p.Asp1033Val)
|
SNV Germline |
Chr13:32337453 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940666 |
rs_141702094 |
5 SubmittersRCV000236981RCV000474695RCV000570313 |
|
NM_000059.4(BRCA2):c.3417G>T (p.Lys1139Asn)
|
SNV Germline |
Chr13:32337772 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10584442 |
rs_145625991 |
6 SubmittersRCV000235818RCV000823718RCV002450731 |
|
NM_000059.4(BRCA2):c.3653G>C (p.Gly1218Ala)
|
SNV Germline |
Chr13:32338008 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10584443 |
rs_879254128 |
3 SubmittersRCV000237033RCV001020809 |
|
NM_000059.4(BRCA2):c.3970T>C (p.Tyr1324His)
|
SNV Germline |
Chr13:32338325 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10584444 |
rs_879254067 |
6 SubmittersRCV000236632RCV001021558RCV001582797RCV005090192 |
|
NM_000059.4(BRCA2):c.4579G>A (p.Ala1527Thr)
|
SNV Germline |
Chr13:32338934 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10584445 |
rs_879254071 |
3 SubmittersRCV000235783RCV003157489RCV003998911 |
|
NM_000059.4(BRCA2):c.4835C>T (p.Pro1612Leu)
|
SNV Germline |
Chr13:32339190 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940820 |
rs_764834875 |
5 SubmittersRCV000235387RCV001023129RCV000813798 |
|
NM_000059.4(BRCA2):c.4927G>A (p.Val1643Ile)
|
SNV Germline |
Chr13:32339282 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA10584447 |
rs_879254182 |
7 SubmittersRCV000235874RCV000572029RCV000701658RCV004804959 |
|
NM_000059.4(BRCA2):c.6418G>A (p.Gly2140Ser)
|
SNV Germline |
Chr13:32340773 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10584449 |
rs_879254137 |
4 SubmittersRCV000236609RCV000531040RCV003157491 |
|
NM_000059.4(BRCA2):c.7617+1G>C
|
SNV Germline |
Chr13:32356610 |
Pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10584451 |
rs_397507922 |
6 SubmittersRCV000235926RCV002298554RCV002392733 |
|
NM_000059.4(BRCA2):c.-41G>A
|
SNV Germline |
Chr13:32315666 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA10585889 |
rs_879255312 |
5 SubmittersRCV000238620RCV000444557RCV000709283RCV005235206RCV004535204 |
|
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter)
|
SNV Germline |
Chr13:32332367 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10585891 |
rs_879255298 |
4 SubmittersRCV000239093RCV001260440RCV002374406 |
|
NM_000059.4(BRCA2):c.1002T>G (p.His334Gln)
|
SNV Germline |
Chr13:32332480 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940482 |
rs_544942885 |
9 SubmittersRCV000239056RCV000463547RCV000509997RCV002229695RCV004701343RCV004804961 |
|
NM_000059.4(BRCA2):c.1387A>G (p.Thr463Ala)
|
SNV Germline |
Chr13:32332865 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10585892 |
rs_879255302 |
3 SubmittersRCV001800611RCV003157496 |
|
NM_000059.4(BRCA2):c.1574C>G (p.Thr525Ser)
|
SNV Germline |
Chr13:32333052 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA6940526 |
rs_397507271 |
7 SubmittersRCV000509790RCV001056849RCV000759576RCV005238791 |
|
NM_000059.4(BRCA2):c.3831T>G (p.Asn1277Lys)
|
SNV Germline |
Chr13:32338186 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10585894 |
rs_879255303 |
2 SubmittersRCV000239141RCV003157497 |
|
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)
|
SNV Germline |
Chr13:32338238 |
Pathogenic |
Condition: not provided Breast cancer, susceptibility to Hereditary breast ovarian cancer syndrome Breast neoplasm Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10585895 |
rs_879255309 |
7 SubmittersRCV000239260RCV000656471RCV000496728RCV000504604RCV001021351RCV000661418 |
|
NM_000059.4(BRCA2):c.4425G>A (p.Met1475Ile)
|
SNV Germline |
Chr13:32338780 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10585896 |
rs_879255301 |
3 SubmittersRCV000238644RCV001208749RCV003157495 |
|
NM_000059.4(BRCA2):c.5191C>T (p.His1731Tyr)
|
SNV Germline |
Chr13:32339546 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940854 |
rs_80358745 |
7 SubmittersRCV000239258RCV000566864RCV000637528RCV001192484RCV003477859 |
|
NM_000059.4(BRCA2):c.6792G>C (p.Leu2264Phe)
|
SNV Germline |
Chr13:32341147 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940984 |
rs_756182263 |
5 SubmittersRCV000239333RCV002365248RCV001358732RCV001854914 |
|
NM_000059.4(BRCA2):c.7822C>G (p.Pro2608Ala)
|
SNV Germline |
Chr13:32362539 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related disorder Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10585900 |
rs_879255308 |
9 SubmittersRCV000239253RCV000474942RCV000567257RCV000985252RCV003230466RCV004535203RCV004567796 |
|
NM_000059.4(BRCA2):c.8702G>T (p.Gly2901Val)
|
SNV Germline |
Chr13:32376739 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10585901 |
rs_80359129 |
5 SubmittersRCV000238663RCV000759677RCV000637407RCV001018206RCV003475845 |
|
NM_000059.4(BRCA2):c.9118-5T>C
|
SNV Germline |
Chr13:32380002 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10585902 |
rs_879255299 |
2 SubmittersRCV000239331RCV002518504 |
|
NM_000059.4(BRCA2):c.1588A>T (p.Lys530Ter)
|
SNV Germline |
Chr13:32333066 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10585929 |
rs_879255325 |
4 SubmittersRCV000239040RCV000584727RCV001380086RCV000661871 |
|
NM_000059.4(BRCA2):c.9319A>G (p.Ile3107Val)
|
SNV Germline |
Chr13:32394751 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA10586015 |
rs_879255336 |
6 SubmittersRCV000238638RCV000985623RCV001019164RCV002265709 |
|
NM_000059.4(BRCA2):c.1837C>G (p.Leu613Val)
|
SNV Germline |
Chr13:32333315 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10586052 |
rs_879255438 |
5 SubmittersRCV000239012RCV001050117RCV002411108 |
|
NM_000059.4(BRCA2):c.2256C>A (p.Asp752Glu)
|
SNV Germline |
Chr13:32336611 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10586057 |
rs_766384913 |
3 SubmittersRCV000238854RCV000796342RCV003157498 |
|
NM_000059.4(BRCA2):c.2282A>C (p.Tyr761Ser)
|
SNV Germline |
Chr13:32336637 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10586058 |
rs_879255443 |
6 SubmittersRCV000239075RCV000700897RCV004999178RCV001185107 |
|
NM_000059.4(BRCA2):c.2323T>A (p.Ser775Thr)
|
SNV Germline |
Chr13:32336678 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10586059 |
rs_879255444 |
6 SubmittersRCV000238606RCV001035942RCV004782328RCV002450756 |
|
NM_000059.4(BRCA2):c.2554A>C (p.Asn852His)
|
SNV Germline |
Chr13:32336909 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940612 |
rs_775531301 |
10 SubmittersRCV000239170RCV000508576RCV000794988RCV004999179RCV004804966RCV000771292 |
|
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)
|
SNV Germline |
Chr13:32336961 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA10586061 |
rs_80358523 |
10 SubmittersRCV000238628RCV000459261RCV000572852RCV001800616RCV003313063RCV003475847 |
|
NM_000059.4(BRCA2):c.2795A>T (p.Asp932Val)
|
SNV Germline |
Chr13:32337150 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10586063 |
rs_879255447 |
7 SubmittersRCV000239185RCV001016622RCV005238792RCV000813921RCV004772886RCV005361485 |
|
NM_000059.4(BRCA2):c.3197A>G (p.Asn1066Ser)
|
SNV Germline |
Chr13:32337552 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940676 |
rs_762752733 |
10 SubmittersRCV000238713RCV000568492RCV000536197RCV000985495RCV000781090RCV002250606RCV004804967 |
|
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp)
|
SNV Germline |
Chr13:32337685 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6940690 |
rs_369294255 |
12 SubmittersRCV000239030RCV000580365RCV000816307RCV000758882RCV005429008RCV001260303 |
|
NM_000059.4(BRCA2):c.3344C>G (p.Ser1115Cys)
|
SNV Germline |
Chr13:32337699 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10586064 |
rs_879255448 |
7 SubmittersRCV000239210RCV000637640RCV000781124RCV000572645 |
|
NM_000059.4(BRCA2):c.3964A>G (p.Asn1322Asp)
|
SNV Germline |
Chr13:32338319 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10586065 |
rs_879255449 |
6 SubmittersRCV000238737RCV000542739RCV001375530RCV001800617RCV003157499 |
|
NM_000059.4(BRCA2):c.4568G>T (p.Gly1523Val)
|
SNV Germline |
Chr13:32338923 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10586067 |
rs_879255451 |
6 SubmittersRCV000239353RCV000478902RCV000690856RCV002338791 |
|
NC_000013.11:g.32338945A>T
|
SNV Germline |
Chr13:32338945 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
No Assertion Criteria Provided |
CA10586068 |
rs_879255452 |
1 SubmittersRCV000238848 |
|
NM_000059.4(BRCA2):c.4885A>G (p.Thr1629Ala)
|
SNV Germline |
Chr13:32339240 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10586071 |
rs_879255455 |
5 SubmittersRCV000238790RCV000582227RCV000792720 |
|
NM_000059.4(BRCA2):c.5293A>T (p.Lys1765Ter)
|
SNV Germline |
Chr13:32339648 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586073 |
rs_879255458 |
2 SubmittersRCV000238810 |
|
NM_000059.4(BRCA2):c.5483A>G (p.Lys1828Arg)
|
SNV Germline |
Chr13:32339838 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10586074 |
rs_879255459 |
4 SubmittersRCV000239105RCV000781067RCV002257612 |
|
NM_000059.4(BRCA2):c.6062A>T (p.His2021Leu)
|
SNV Germline |
Chr13:32340417 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940926 |
rs_780621780 |
4 SubmittersRCV000238902RCV002356337RCV002298556 |
|
NM_000059.4(BRCA2):c.7349A>T (p.Asn2450Ile)
|
SNV Germline |
Chr13:32355202 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA6941083 |
rs_761505767 |
7 SubmittersRCV000238922RCV000773097RCV000804173RCV004567797RCV002265710 |
|
NM_000059.4(BRCA2):c.734G>C (p.Arg245Thr)
|
SNV Germline |
Chr13:32330971 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10586077 |
rs_879255462 |
4 SubmittersRCV000239222RCV001854927RCV004948235 |
|
NM_000059.4(BRCA2):c.7660A>G (p.Ser2554Gly)
|
SNV Germline |
Chr13:32357784 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10586079 |
rs_879255464 |
6 SubmittersRCV000238966RCV000798016RCV004800363RCV000567399RCV003320622 |
|
NM_000059.4(BRCA2):c.7883T>C (p.Ile2628Thr)
|
SNV Germline |
Chr13:32362600 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10586080 |
rs_879255465 |
7 SubmittersRCV000238761RCV000637454RCV001026911RCV000758955 |
|
NM_000059.4(BRCA2):c.8180C>G (p.Ala2727Gly)
|
SNV Germline |
Chr13:32363382 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10586083 |
rs_879255468 |
5 SubmittersRCV000238976RCV000469799RCV000565073RCV000483895 |
|
NM_000059.4(BRCA2):c.9073A>G (p.Ile3025Val)
|
SNV Germline |
Chr13:32379869 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10586085 |
rs_879255470 |
7 SubmittersRCV000238820RCV000463078RCV000779983RCV001181419 |
|
NM_000059.4(BRCA2):c.9111A>T (p.Gln3037His)
|
SNV Germline |
Chr13:32379907 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10586086 |
rs_200814465 |
5 SubmittersRCV000239094RCV001283946RCV001191885RCV000696962 |
|
NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu)
|
SNV Germline |
Chr13:32394717 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10586089 |
rs_80359198 |
5 SubmittersRCV000239130RCV000812850RCV001175898RCV003475848 |
|
NM_000059.4(BRCA2):c.966A>C (p.Lys322Asn)
|
SNV Germline |
Chr13:32332444 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10586090 |
rs_879255473 |
4 SubmittersRCV000238647RCV000808300RCV003157500 |
|
NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys)
|
SNV Germline |
Chr13:32326139 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA10586163 |
rs_377639990 |
5 SubmittersRCV000239453RCV000461803RCV001022845RCV003607279 |
|
NM_000059.4(BRCA2):c.523C>T (p.Gln175Ter)
|
SNV Germline |
Chr13:32326505 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA6940396 |
rs_750385844 |
3 SubmittersRCV000241116RCV001023783RCV000688623 |
|
NM_000059.4(BRCA2):c.584C>G (p.Ser195Ter)
|
SNV Germline |
Chr13:32326566 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10586482 |
rs_886038053 |
6 SubmittersRCV000241261RCV000460181RCV003475851RCV002269265RCV002356338 |
|
NM_000059.4(BRCA2):c.926C>A (p.Ser309Ter)
|
SNV Germline |
Chr13:32332404 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA10586488 |
rs_886038059 |
4 SubmittersRCV000241380RCV001528669 |
|
NM_000059.4(BRCA2):c.1325C>G (p.Ser442Ter)
|
SNV Germline |
Chr13:32332803 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10586495 |
rs_80358421 |
4 SubmittersRCV000241014RCV000579413RCV001055352 |
|
NM_000059.4(BRCA2):c.2548C>T (p.Gln850Ter)
|
SNV Germline |
Chr13:32336903 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10586502 |
rs_886038075 |
6 SubmittersRCV000241213RCV002519873RCV002429181 |
|
NM_000059.4(BRCA2):c.2651C>A (p.Ser884Ter)
|
SNV Germline |
Chr13:32337006 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586505 |
rs_777421358 |
1 SubmittersRCV000241471 |
|
NM_000059.4(BRCA2):c.2905C>T (p.Gln969Ter)
|
SNV Germline |
Chr13:32337260 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome 8 conditions Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10586506 |
rs_886038080 |
7 SubmittersRCV000240967RCV000550373RCV005008217RCV002436078 |
|
NM_000059.4(BRCA2):c.3016G>T (p.Gly1006Ter)
|
SNV Germline |
Chr13:32337371 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10586509 |
rs_886038083 |
2 SubmittersRCV000241529RCV002519874 |
|
NM_000059.4(BRCA2):c.3046G>T (p.Glu1016Ter)
|
SNV Germline |
Chr13:32337401 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA6940656 |
rs_748508287 |
6 SubmittersRCV000241181RCV001524512RCV001857850RCV003221885 |
|
NM_000059.4(BRCA2):c.4154C>A (p.Ser1385Ter)
|
SNV Germline |
Chr13:32338509 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586520 |
rs_886038101 |
4 SubmittersRCV000241154 |
|
NM_000059.4(BRCA2):c.4465A>T (p.Lys1489Ter)
|
SNV Germline |
Chr13:32338820 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586523 |
rs_886038104 |
1 SubmittersRCV000241088 |
|
NM_000059.4(BRCA2):c.4689G>A (p.Trp1563Ter)
|
SNV Germline |
Chr13:32339044 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA10586527 |
rs_886038108 |
7 SubmittersRCV000241224RCV000506415RCV000698636RCV002338794RCV003477863RCV004567800 |
|
NM_000059.4(BRCA2):c.4904T>A (p.Leu1635Ter)
|
SNV Germline |
Chr13:32339259 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586528 |
rs_886038110 |
1 SubmittersRCV000241354 |
|
NM_000059.4(BRCA2):c.4936G>T (p.Glu1646Ter)
|
SNV Germline |
Chr13:32339291 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586529 |
rs_886038111 |
1 SubmittersRCV000241191 |
|
NM_000059.4(BRCA2):c.4972C>T (p.Gln1658Ter)
|
SNV Germline |
Chr13:32339327 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10586532 |
rs_886038114 |
5 SubmittersRCV000241136RCV000520451RCV001175032RCV004020992 |
|
NM_000059.4(BRCA2):c.5057T>A (p.Leu1686Ter)
|
SNV Germline |
Chr13:32339412 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586533 |
rs_886038115 |
1 SubmittersRCV000241249 |
|
NM_000059.4(BRCA2):c.5071A>T (p.Lys1691Ter)
|
SNV Germline |
Chr13:32339426 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10586534 |
rs_886038116 |
6 SubmittersRCV000241008RCV000444015RCV001804981 |
|
NM_000059.4(BRCA2):c.5200G>T (p.Glu1734Ter)
|
SNV Germline |
Chr13:32339555 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586538 |
rs_786202543 |
1 SubmittersRCV000240986 |
|
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter)
|
SNV Germline |
Chr13:32339636 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA10586539 |
rs_886038122 |
10 SubmittersRCV000241157RCV000637612RCV000772133RCV001723829RCV004804969 |
|
NM_000059.4(BRCA2):c.5564C>A (p.Ser1855Ter)
|
SNV Germline |
Chr13:32339919 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586542 |
rs_886038125 |
2 SubmittersRCV000241296 |
|
NM_000059.4(BRCA2):c.5779G>T (p.Glu1927Ter)
|
SNV Germline |
Chr13:32340134 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10586544 |
rs_886038131 |
3 SubmittersRCV000241079RCV001386553 |
|
NM_000059.4(BRCA2):c.5966C>A (p.Ser1989Ter)
|
SNV Germline |
Chr13:32340321 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586546 |
rs_886038134 |
1 SubmittersRCV000241522 |
|
NM_000059.4(BRCA2):c.5978T>G (p.Leu1993Ter)
|
SNV Germline |
Chr13:32340333 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA6940920 |
rs_768242833 |
3 SubmittersRCV000241170RCV000496287RCV005532611 |
|
NM_000059.4(BRCA2):c.6982G>T (p.Glu2328Ter)
|
SNV Germline |
Chr13:32346871 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586566 |
rs_886038158 |
2 SubmittersRCV000241433 |
|
NM_000059.4(BRCA2):c.7063G>T (p.Glu2355Ter)
|
SNV Germline |
Chr13:32354916 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Reviewed By Expert Panel |
CA6941056 |
rs_200078639 |
6 SubmittersRCV000241131RCV000526031RCV001025988RCV003475854RCV000657669 |
|
NM_000059.4(BRCA2):c.7921G>T (p.Glu2641Ter)
|
SNV Germline |
Chr13:32362638 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586582 |
rs_886038177 |
1 SubmittersRCV000241096 |
|
NM_000059.4(BRCA2):c.7987G>T (p.Glu2663Ter)
|
SNV Germline |
Chr13:32363189 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586584 |
rs_80359030 |
1 SubmittersRCV000241097 |
|
NM_000059.4(BRCA2):c.8178T>A (p.Tyr2726Ter)
|
SNV Germline |
Chr13:32363380 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA10586587 |
rs_761595544 |
7 SubmittersRCV000241134RCV000496742RCV001729482 |
|
NM_000059.4(BRCA2):c.8377G>T (p.Gly2793Ter)
|
SNV Germline |
Chr13:32370447 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586588 |
rs_80359082 |
1 SubmittersRCV000241165 |
|
NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter)
|
SNV Germline |
Chr13:32370548 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA6941230 |
rs_776353983 |
7 SubmittersRCV000240987RCV001284444RCV001388431RCV003463712RCV004601140 |
|
NM_000059.4(BRCA2):c.8911A>T (p.Lys2971Ter)
|
SNV Germline |
Chr13:32379473 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10586593 |
rs_886038187 |
3 SubmittersRCV000241033 |
|
NM_000059.4(BRCA2):c.1185G>A (p.Trp395Ter)
|
SNV Germline |
Chr13:32332663 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10588559 |
rs_886039315 |
3 SubmittersRCV000255306RCV000661416RCV004021022 |
|
NM_000059.4(BRCA2):c.2363G>A (p.Gly788Asp)
|
SNV Germline |
Chr13:32336718 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10588561 |
rs_886039316 |
4 SubmittersRCV000255355RCV000510030RCV001855001 |
|
NM_000059.4(BRCA2):c.2490C>G (p.Asn830Lys)
|
SNV Germline |
Chr13:32336845 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA10588562 |
rs_56331088 |
5 SubmittersRCV000255910RCV001056245RCV003157503RCV003995739 |
|
NM_000059.4(BRCA2):c.71T>G (p.Leu24Ter)
|
SNV Germline |
Chr13:32319080 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589004 |
rs_397507902 |
4 SubmittersRCV000257036RCV001056537 |
|
NM_000059.4(BRCA2):c.73G>T (p.Gly25Ter)
|
SNV Germline |
Chr13:32319082 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589005 |
rs_80358961 |
2 SubmittersRCV000257648 |
|
NM_000059.4(BRCA2):c.110C>A (p.Ser37Ter)
|
SNV Germline |
Chr13:32319119 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589009 |
rs_886040346 |
2 SubmittersRCV000257013 |
|
NM_000059.4(BRCA2):c.110C>G (p.Ser37Ter)
|
SNV Germline |
Chr13:32319119 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589010 |
rs_886040346 |
4 SubmittersRCV000257520RCV004567814RCV005520260 |
|
NM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter)
|
SNV Germline |
Chr13:32319135 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA10589011 |
rs_886040353 |
3 SubmittersRCV000257198RCV003298332RCV003475861 |
|
NM_000059.4(BRCA2):c.247G>T (p.Glu83Ter)
|
SNV Germline |
Chr13:32319256 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589016 |
rs_886040428 |
5 SubmittersRCV000257861RCV001380088RCV000776210 |
|
NM_000059.4(BRCA2):c.473C>A (p.Ser158Ter)
|
SNV Germline |
Chr13:32326148 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589030 |
rs_80358701 |
3 SubmittersRCV000257460RCV001063986 |
|
NM_000059.4(BRCA2):c.643G>T (p.Glu215Ter)
|
SNV Germline |
Chr13:32329454 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589039 |
rs_774539540 |
3 SubmittersRCV000257497RCV003644973 |
|
NM_000059.4(BRCA2):c.979A>T (p.Lys327Ter)
|
SNV Germline |
Chr13:32332457 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589065 |
rs_80359242 |
3 SubmittersRCV000257461RCV001859525 |
|
NM_000059.4(BRCA2):c.1023T>A (p.Cys341Ter)
|
SNV Germline |
Chr13:32332501 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589067 |
rs_886040339 |
2 SubmittersRCV000257145 |
|
NM_000059.4(BRCA2):c.1058C>A (p.Ser353Ter)
|
SNV Germline |
Chr13:32332536 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589069 |
rs_769368098 |
2 SubmittersRCV000257623 |
|
NM_000059.4(BRCA2):c.1058C>G (p.Ser353Ter)
|
SNV Germline |
Chr13:32332536 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589070 |
rs_769368098 |
2 SubmittersRCV000256739 |
|
NM_000059.4(BRCA2):c.1097T>G (p.Leu366Ter)
|
SNV Germline |
Chr13:32332575 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Condition: not provided BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589072 |
rs_886040345 |
7 SubmittersRCV000257220RCV001069551RCV003492023RCV003477877RCV005355572RCV005532614 |
|
NM_000059.4(BRCA2):c.1184G>A (p.Trp395Ter)
|
SNV Germline |
Chr13:32332662 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Gastric cancer |
Reviewed By Expert Panel |
CA10589073 |
rs_886040347 |
5 SubmittersRCV000257484RCV000496427RCV003165708 |
|
NM_000059.4(BRCA2):c.1253C>G (p.Ser418Ter)
|
SNV Germline |
Chr13:32332731 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589081 |
rs_397507266 |
3 SubmittersRCV000256683RCV003644963 |
|
NM_000059.4(BRCA2):c.1286T>G (p.Leu429Ter)
|
SNV Germline |
Chr13:32332764 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589083 |
rs_886040356 |
4 SubmittersRCV000257337RCV000580629 |
|
NM_000059.4(BRCA2):c.1376T>G (p.Leu459Ter)
|
SNV Germline |
Chr13:32332854 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Malignant tumor of breast |
Reviewed By Expert Panel |
CA10589090 |
rs_587781799 |
5 SubmittersRCV000257539RCV000496394RCV001357455 |
|
NM_000059.4(BRCA2):c.1621G>T (p.Glu541Ter)
|
SNV Germline |
Chr13:32333099 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589107 |
rs_886040378 |
4 SubmittersRCV000257630RCV003530038RCV005318356 |
|
NM_000059.4(BRCA2):c.1913T>G (p.Leu638Ter)
|
SNV Germline |
Chr13:32336268 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589127 |
rs_886040396 |
2 SubmittersRCV000257343 |
|
NM_000059.4(BRCA2):c.1943C>G (p.Ser648Ter)
|
SNV Germline |
Chr13:32336298 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589129 |
rs_886040398 |
2 SubmittersRCV000257459 |
|
NM_000059.4(BRCA2):c.2086G>T (p.Glu696Ter)
|
SNV Germline |
Chr13:32336441 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589133 |
rs_431825291 |
2 SubmittersRCV000257074 |
|
NM_000059.4(BRCA2):c.2129C>G (p.Ser710Ter)
|
SNV Germline |
Chr13:32336484 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589136 |
rs_886040405 |
5 SubmittersRCV000257558RCV001057719RCV003475862RCV002418100 |
|
NM_000059.4(BRCA2):c.2137C>T (p.Gln713Ter)
|
SNV Germline |
Chr13:32336492 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589137 |
rs_886040407 |
3 SubmittersRCV000257325RCV001246977 |
|
NM_000059.4(BRCA2):c.2269A>T (p.Lys757Ter)
|
SNV Germline |
Chr13:32336624 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589148 |
rs_886040419 |
5 SubmittersRCV000256622RCV000772134RCV001855027 |
|
NM_000059.4(BRCA2):c.2539A>T (p.Arg847Ter)
|
SNV Germline |
Chr13:32336894 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589161 |
rs_886040435 |
3 SubmittersRCV000257080 |
|
NM_000059.4(BRCA2):c.2593G>T (p.Glu865Ter)
|
SNV Germline |
Chr13:32336948 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589164 |
rs_587782014 |
3 SubmittersRCV000257089RCV000502188 |
|
NM_000059.4(BRCA2):c.2847T>A (p.Tyr949Ter)
|
SNV Germline |
Chr13:32337202 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589175 |
rs_886040449 |
7 SubmittersRCV000256804RCV000462744RCV000507041RCV000565071 |
|
NM_000059.4(BRCA2):c.2983G>T (p.Gly995Ter)
|
SNV Germline |
Chr13:32337338 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589183 |
rs_886040457 |
2 SubmittersRCV000256489 |
|
NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter)
|
SNV Germline |
Chr13:32337345 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589184 |
rs_397507649 |
6 SubmittersRCV000256883RCV000504597RCV001046045RCV001182321 |
|
NM_000059.4(BRCA2):c.3217C>T (p.Gln1073Ter)
|
SNV Germline |
Chr13:32337572 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589191 |
rs_886040464 |
5 SubmittersRCV000256685RCV000561567RCV000779987 |
|
NM_000059.4(BRCA2):c.3244A>T (p.Lys1082Ter)
|
SNV Germline |
Chr13:32337599 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589192 |
rs_886040465 |
4 SubmittersRCV000257758RCV000772136RCV001206785 |
|
NM_000059.4(BRCA2):c.3523C>T (p.Gln1175Ter)
|
SNV Germline |
Chr13:32337878 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589208 |
rs_886040480 |
12 SubmittersRCV000257840RCV000522278RCV001020520RCV001064484 |
|
NM_000059.4(BRCA2):c.3631G>T (p.Glu1211Ter)
|
SNV Germline |
Chr13:32337986 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided 8 conditions |
Reviewed By Expert Panel |
CA10589214 |
rs_886040486 |
4 SubmittersRCV000256490RCV000414088RCV004796144 |
|
NM_000059.4(BRCA2):c.3812C>G (p.Ser1271Ter)
|
SNV Germline |
Chr13:32338167 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Reviewed By Expert Panel |
CA10589223 |
rs_80358623 |
5 SubmittersRCV000256517RCV001182320RCV001859520RCV003475868 |
|
NM_000059.4(BRCA2):c.3881T>G (p.Leu1294Ter)
|
SNV Germline |
Chr13:32338236 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589230 |
rs_80358632 |
8 SubmittersRCV000257599RCV000772135RCV000496437 |
|
NM_000059.4(BRCA2):c.4051A>T (p.Lys1351Ter)
|
SNV Germline |
Chr13:32338406 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589239 |
rs_886040510 |
4 SubmittersRCV000257141RCV001021755RCV003644967 |
|
NM_000059.4(BRCA2):c.4211C>G (p.Ser1404Ter)
|
SNV Germline |
Chr13:32338566 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA10589245 |
rs_41293489 |
8 SubmittersRCV000256949RCV000500303RCV000562646RCV004816469RCV003475870 |
|
NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter)
|
SNV Germline |
Chr13:32338721 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589254 |
rs_876659847 |
9 SubmittersRCV000257168RCV000657676RCV003475871RCV000496408RCV000509662 |
|
NM_000059.4(BRCA2):c.4397T>A (p.Leu1466Ter)
|
SNV Germline |
Chr13:32338752 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589256 |
rs_886040526 |
3 SubmittersRCV000257822RCV000703187 |
|
NM_000059.4(BRCA2):c.4774A>T (p.Lys1592Ter)
|
SNV Germline |
Chr13:32339129 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589272 |
rs_886040548 |
2 SubmittersRCV000257518RCV000496852 |
|
NM_000059.4(BRCA2):c.4783C>T (p.Gln1595Ter)
|
SNV Germline |
Chr13:32339138 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589273 |
rs_886040549 |
2 SubmittersRCV000256632 |
|
NM_000059.4(BRCA2):c.4912A>T (p.Lys1638Ter)
|
SNV Germline |
Chr13:32339267 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589276 |
rs_886040553 |
6 SubmittersRCV000257313RCV000487270RCV000700312RCV002347977 |
|
NM_000059.4(BRCA2):c.4985C>G (p.Ser1662Ter)
|
SNV Germline |
Chr13:32339340 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589281 |
rs_886040559 |
4 SubmittersRCV000256529RCV003475872RCV004021048 |
|
NM_000059.4(BRCA2):c.5263G>T (p.Glu1755Ter)
|
SNV Germline |
Chr13:32339618 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589304 |
rs_886040584 |
4 SubmittersRCV000256902RCV003165711RCV003644970 |
|
NM_000059.4(BRCA2):c.5365A>T (p.Lys1789Ter)
|
SNV Germline |
Chr13:32339720 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589312 |
rs_587782240 |
3 SubmittersRCV000256720RCV004017576 |
|
NM_000059.4(BRCA2):c.5623A>T (p.Lys1875Ter)
|
SNV Germline |
Chr13:32339978 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589322 |
rs_886040600 |
1 SubmittersRCV000256547 |
|
NM_000059.4(BRCA2):c.5750C>A (p.Ser1917Ter)
|
SNV Germline |
Chr13:32340105 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589328 |
rs_886040609 |
2 SubmittersRCV000257478 |
|
NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter)
|
SNV Germline |
Chr13:32340155 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589329 |
rs_886040610 |
5 SubmittersRCV000257465RCV001782761RCV004017577 |
|
NM_000059.4(BRCA2):c.5966C>G (p.Ser1989Ter)
|
SNV Germline |
Chr13:32340321 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589339 |
rs_886038134 |
5 SubmittersRCV000257524RCV001024726RCV003155141 |
|
NM_000059.4(BRCA2):c.5975C>G (p.Ser1992Ter)
|
SNV Germline |
Chr13:32340330 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589341 |
rs_80358830 |
3 SubmittersRCV000257155RCV003644971 |
|
NM_000059.4(BRCA2):c.6049A>T (p.Lys2017Ter)
|
SNV Germline |
Chr13:32340404 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589348 |
rs_886040630 |
4 SubmittersRCV000257874RCV002356361 |
|
NM_000059.4(BRCA2):c.6155C>G (p.Ser2052Ter)
|
SNV Germline |
Chr13:32340510 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589358 |
rs_786202461 |
6 SubmittersRCV000257714RCV000985559RCV001024954RCV002307475 |
|
NM_000059.4(BRCA2):c.6244G>T (p.Glu2082Ter)
|
SNV Germline |
Chr13:32340599 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589361 |
rs_886040642 |
6 SubmittersRCV000257746RCV000485979RCV000566202RCV000804427 |
|
NM_000059.4(BRCA2):c.6385G>T (p.Glu2129Ter)
|
SNV Germline/somatic |
Chr13:32340740 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Ovarian neoplasm Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589373 |
rs_886040653 |
6 SubmittersRCV000256697RCV000785568RCV003644972RCV004791381RCV002365279 |
|
NM_000059.4(BRCA2):c.6428C>G (p.Ser2143Ter)
|
SNV Germline |
Chr13:32340783 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589377 |
rs_149330893 |
4 SubmittersRCV000257829RCV001855033RCV004948248 |
|
NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter)
|
SNV Germline |
Chr13:32340833 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast carcinoma |
Reviewed By Expert Panel |
CA10589379 |
rs_886040658 |
5 SubmittersRCV000257379RCV000568004RCV000637510RCV001554247 |
|
NM_000059.4(BRCA2):c.6500T>A (p.Leu2167Ter)
|
SNV Germline |
Chr13:32340855 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589381 |
rs_730881543 |
2 SubmittersRCV000256721 |
|
NM_000059.4(BRCA2):c.6502G>T (p.Gly2168Ter)
|
SNV Germline |
Chr13:32340857 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA10589382 |
rs_886040660 |
6 SubmittersRCV000257061RCV000507169RCV000798225RCV002356362RCV004804978 |
|
NM_000059.4(BRCA2):c.6515C>A (p.Ser2172Ter)
|
SNV Germline |
Chr13:32340870 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589385 |
rs_886040663 |
2 SubmittersRCV000257289 |
|
NM_000059.4(BRCA2):c.6541G>T (p.Gly2181Ter)
|
SNV Germline |
Chr13:32340896 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Reviewed By Expert Panel |
CA10589390 |
rs_371067421 |
4 SubmittersRCV000257017RCV002365281RCV003477879 |
|
NM_000059.4(BRCA2):c.6557C>G (p.Ser2186Ter)
|
SNV Germline |
Chr13:32340912 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589391 |
rs_397507867 |
2 SubmittersRCV000257527 |
|
NM_000059.4(BRCA2):c.6676G>T (p.Glu2226Ter)
|
SNV Germline |
Chr13:32341031 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA10589398 |
rs_775859905 |
3 SubmittersRCV000257146RCV004804979 |
|
NM_000059.4(BRCA2):c.6730A>T (p.Lys2244Ter)
|
SNV Germline |
Chr13:32341085 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589401 |
rs_886040675 |
5 SubmittersRCV000256833RCV000776329RCV001383216 |
|
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter)
|
SNV Germline |
Chr13:32354886 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589410 |
rs_886040685 |
6 SubmittersRCV000256724RCV000566727RCV002519017 |
|
NM_000059.4(BRCA2):c.7090G>T (p.Glu2364Ter)
|
SNV Germline |
Chr13:32354943 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589411 |
rs_80358940 |
3 SubmittersRCV000257797RCV002365285 |
|
NM_000059.4(BRCA2):c.7124T>G (p.Leu2375Ter)
|
SNV Germline |
Chr13:32354977 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589413 |
rs_886040687 |
6 SubmittersRCV000257811RCV001855035 |
|
NM_000059.4(BRCA2):c.7187T>A (p.Leu2396Ter)
|
SNV Germline |
Chr13:32355040 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589415 |
rs_876658803 |
2 SubmittersRCV000257537 |
|
NM_000059.4(BRCA2):c.7210A>T (p.Lys2404Ter)
|
SNV Germline |
Chr13:32355063 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589417 |
rs_886040691 |
4 SubmittersRCV000256528RCV005090313RCV002374438 |
|
NM_000059.4(BRCA2):c.7283T>A (p.Leu2428Ter)
|
SNV Germline |
Chr13:32355136 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA10589421 |
rs_886040696 |
4 SubmittersRCV000256775RCV000657665 |
|
NM_000059.4(BRCA2):c.7495C>T (p.Gln2499Ter)
|
SNV Germline |
Chr13:32356487 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589431 |
rs_876660447 |
5 SubmittersRCV000256887RCV004786643RCV002392785RCV003530041 |
|
NM_000059.4(BRCA2):c.7501C>T (p.Gln2501Ter)
|
SNV Germline |
Chr13:32356493 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589432 |
rs_886040711 |
4 SubmittersRCV000257413RCV000637381RCV000561200 |
|
NM_000059.4(BRCA2):c.7615C>T (p.Gln2539Ter)
|
SNV Germline |
Chr13:32356607 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA10589440 |
rs_886040720 |
4 SubmittersRCV000257556RCV000707435RCV000483081 |
|
NM_000059.4(BRCA2):c.7708A>T (p.Lys2570Ter)
|
SNV Germline |
Chr13:32357832 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589447 |
rs_876659346 |
4 SubmittersRCV000257007RCV001264456 |
|
NM_000059.4(BRCA2):c.7795G>T (p.Glu2599Ter)
|
SNV Germline |
Chr13:32357919 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589451 |
rs_41293509 |
4 SubmittersRCV000256741RCV000529465RCV002411139 |
|
NM_000059.4(BRCA2):c.7887G>A (p.Trp2629Ter)
|
SNV Germline |
Chr13:32362604 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589456 |
rs_886040734 |
3 SubmittersRCV000256992RCV003165712 |
|
NM_000059.4(BRCA2):c.7933A>T (p.Arg2645Ter)
|
SNV Germline |
Chr13:32362650 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589458 |
rs_876658889 |
2 SubmittersRCV000257376 |
|
NM_000059.4(BRCA2):c.7974C>A (p.Tyr2658Ter)
|
SNV Germline |
Chr13:32362691 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided |
Reviewed By Expert Panel |
CA10589460 |
rs_80359025 |
5 SubmittersRCV000256889RCV000698665RCV002288952RCV002510834 |
|
NM_000059.4(BRCA2):c.8195T>A (p.Leu2732Ter)
|
SNV Germline |
Chr13:32363397 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589471 |
rs_397507967 |
3 SubmittersRCV000257040RCV001358288RCV002429204 |
|
NM_000059.4(BRCA2):c.8295T>A (p.Cys2765Ter)
|
SNV Germline |
Chr13:32363497 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589479 |
rs_886040756 |
3 SubmittersRCV000257801 |
|
NM_000059.4(BRCA2):c.8329A>T (p.Lys2777Ter)
|
SNV Germline |
Chr13:32363531 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589484 |
rs_886037818 |
4 SubmittersRCV000256643RCV001050009RCV002429206 |
|
NM_000059.4(BRCA2):c.8395A>T (p.Arg2799Ter)
|
SNV Germline |
Chr13:32370465 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589494 |
rs_886040771 |
2 SubmittersRCV000257744 |
|
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter)
|
SNV Germline |
Chr13:32370540 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589499 |
rs_886040778 |
5 SubmittersRCV000256588RCV000496945RCV002446506 |
|
NM_000059.4(BRCA2):c.8478C>G (p.Tyr2826Ter)
|
SNV Germline |
Chr13:32370548 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA10589500 |
rs_776353983 |
3 SubmittersRCV000257109RCV005054188 |
|
NM_000059.4(BRCA2):c.8504C>G (p.Ser2835Ter)
|
SNV Germline |
Chr13:32370972 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589501 |
rs_80359102 |
3 SubmittersRCV000256554RCV003644975 |
|
NM_000059.4(BRCA2):c.8513T>A (p.Leu2838Ter)
|
SNV Germline |
Chr13:32370981 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589502 |
rs_886040779 |
4 SubmittersRCV000257071RCV005090316 |
|
NM_000059.4(BRCA2):c.8513T>G (p.Leu2838Ter)
|
SNV Germline |
Chr13:32370981 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA10589503 |
rs_886040779 |
3 SubmittersRCV000257585RCV001269868 |
|
NM_000059.4(BRCA2):c.8517C>A (p.Tyr2839Ter)
|
SNV Germline |
Chr13:32370985 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA10589504 |
rs_863224315 |
5 SubmittersRCV000256702RCV001175897RCV005365217 |
|
NM_000059.4(BRCA2):c.8536G>T (p.Glu2846Ter)
|
SNV Germline |
Chr13:32371004 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589506 |
rs_886040781 |
4 SubmittersRCV000257559RCV004596154RCV002518783 |
|
NM_000059.4(BRCA2):c.8652T>G (p.Tyr2884Ter)
|
SNV Germline |
Chr13:32376689 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589512 |
rs_886040787 |
2 SubmittersRCV000256932 |
|
NM_000059.4(BRCA2):c.8760T>G (p.Tyr2920Ter)
|
SNV Germline |
Chr13:32379322 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589515 |
rs_886040790 |
4 SubmittersRCV000256501RCV004601152 |
|
NM_000059.4(BRCA2):c.8777T>A (p.Leu2926Ter)
|
SNV Germline |
Chr13:32379339 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589516 |
rs_886040791 |
7 SubmittersRCV000257704RCV000657696RCV000555765RCV001524866 |
|
NM_000059.4(BRCA2):c.8888C>G (p.Ser2963Ter)
|
SNV Germline |
Chr13:32379450 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA10589522 |
rs_886040798 |
4 SubmittersRCV000257755RCV001855036RCV001812765 |
|
NM_000059.4(BRCA2):c.8910G>A (p.Trp2970Ter)
|
SNV Germline |
Chr13:32379472 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589523 |
rs_886040799 |
3 SubmittersRCV000256874 |
|
NM_000059.4(BRCA2):c.8915T>A (p.Leu2972Ter)
|
SNV Germline |
Chr13:32379477 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589524 |
rs_80359142 |
5 SubmittersRCV000256493RCV000429396RCV002518784 |
|
NM_000059.4(BRCA2):c.8931T>A (p.Tyr2977Ter)
|
SNV Germline |
Chr13:32379493 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589526 |
rs_886040801 |
9 SubmittersRCV000257156RCV000657664RCV003644976RCV002446507 |
|
NM_000059.4(BRCA2):c.8938A>T (p.Lys2980Ter)
|
SNV Germline |
Chr13:32379500 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589527 |
rs_886040802 |
2 SubmittersRCV000257670 |
|
NM_000059.4(BRCA2):c.8941G>T (p.Glu2981Ter)
|
SNV Germline |
Chr13:32379503 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589528 |
rs_139052578 |
5 SubmittersRCV000257646RCV000496957RCV002374441 |
|
NM_000059.4(BRCA2):c.8951C>A (p.Ser2984Ter)
|
SNV Germline |
Chr13:32379513 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA10589532 |
rs_80359146 |
6 SubmittersRCV000257587RCV000472639RCV001018541 |
|
NM_000059.4(BRCA2):c.9105T>G (p.Tyr3035Ter)
|
SNV Germline |
Chr13:32379901 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589546 |
rs_886040819 |
2 SubmittersRCV000257354 |
|
NM_000059.4(BRCA2):c.9106C>T (p.Gln3036Ter)
|
SNV Germline |
Chr13:32379902 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589547 |
rs_202155613 |
6 SubmittersRCV000257850RCV000481378RCV000637689 |
|
NM_000059.4(BRCA2):c.9139C>T (p.Gln3047Ter)
|
SNV Germline |
Chr13:32380028 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589550 |
rs_886040822 |
2 SubmittersRCV000257836 |
|
NM_000059.4(BRCA2):c.9147C>A (p.Tyr3049Ter)
|
SNV Germline |
Chr13:32380036 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589551 |
rs_886040823 |
2 SubmittersRCV000256939 |
|
NM_000059.4(BRCA2):c.9182T>G (p.Leu3061Ter)
|
SNV Germline |
Chr13:32380071 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA10589552 |
rs_80359175 |
2 SubmittersRCV000257463 |
|
NM_000059.4(BRCA2):c.9413T>G (p.Leu3138Ter)
|
SNV Germline |
Chr13:32394845 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589565 |
rs_886040838 |
3 SubmittersRCV000256636RCV001855038 |
|
NM_000059.4(BRCA2):c.9739C>T (p.Gln3247Ter)
|
SNV Germline |
Chr13:32398252 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Reviewed By Expert Panel |
CA10589572 |
rs_886040849 |
5 SubmittersRCV000257474RCV002379105RCV002519019RCV003475880 |
|
NM_000059.4(BRCA2):c.9836T>A (p.Leu3279Ter)
|
SNV Germline |
Chr13:32398349 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10589575 |
rs_886040852 |
3 SubmittersRCV000257096RCV001310191RCV001859526 |
|
NM_000059.4(BRCA2):c.9924C>A (p.Tyr3308Ter)
|
SNV Germline |
Chr13:32398437 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA10589578 |
rs_4987049 |
3 SubmittersRCV000257043RCV000479392 |
|
NM_000059.4(BRCA2):c.316+2T>G
|
SNV Germline |
Chr13:32319327 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA10602516 |
rs_81002805 |
1 SubmittersRCV000258462 |
|
NM_000059.4(BRCA2):c.426-2A>T
|
SNV Germline |
Chr13:32326099 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA10602518 |
rs_398122779 |
1 SubmittersRCV000258384 |
|
NM_000059.4(BRCA2):c.476-2A>C
|
SNV Germline |
Chr13:32326240 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10602520 |
rs_81002853 |
2 SubmittersRCV000258403RCV001042834 |
|
NM_000059.4(BRCA2):c.516+1G>T
|
SNV Germline |
Chr13:32326283 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10602521 |
rs_397507762 |
9 SubmittersRCV000258288RCV001723868RCV001855044RCV002338818 |
|
NM_000059.4(BRCA2):c.517-1G>T
|
SNV Germline |
Chr13:32326498 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA10602523 |
rs_81002849 |
1 SubmittersRCV000258191 |
|
NM_000059.4(BRCA2):c.631+2T>A
|
SNV Germline |
Chr13:32326615 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA10602524 |
rs_81002899 |
4 SubmittersRCV000258303RCV000486311 |
|
NM_000059.4(BRCA2):c.682-2A>C
|
SNV Germline |
Chr13:32330917 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA10602526 |
rs_878853287 |
4 SubmittersRCV000258313RCV001855045RCV002365287RCV002298558 |
|
NM_000059.4(BRCA2):c.793+2T>G
|
SNV Germline |
Chr13:32331032 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Gastric cancer |
Criteria Provided Multiple Submitters No Conflicts |
CA10602527 |
rs_886040942 |
4 SubmittersRCV000258351RCV001055989RCV003165716 |
|
NM_000059.4(BRCA2):c.6901G>T (p.Glu2301Ter)
|
SNV Germline |
Chr13:32344617 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA10602532 |
rs_80358915 |
2 SubmittersRCV000258479 |
|
NM_000059.4(BRCA2):c.6937+1G>A
|
SNV Germline |
Chr13:32344654 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10602533 |
rs_886040935 |
6 SubmittersRCV000258242RCV000774991RCV004804980RCV005243178RCV001363655 |
|
NM_000059.4(BRCA2):c.6938-2A>C
|
SNV Germline |
Chr13:32346825 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA10602534 |
rs_81002863 |
1 SubmittersRCV000258411 |
|
NM_000059.4(BRCA2):c.6938-1G>A
|
SNV Germline |
Chr13:32346826 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10602535 |
rs_886040936 |
6 SubmittersRCV000258239RCV001025818RCV000801410 |
|
NM_000059.4(BRCA2):c.7007+2T>A
|
SNV Germline |
Chr13:32346898 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10602536 |
rs_886040937 |
2 SubmittersRCV000258164RCV001377949 |
|
NM_000059.4(BRCA2):c.7008-1G>T
|
SNV Germline |
Chr13:32354860 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA10602537 |
rs_786204280 |
1 SubmittersRCV000258224 |
|
NM_000059.4(BRCA2):c.7435+1G>C
|
SNV Germline |
Chr13:32355289 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA6941091 |
rs_770042748 |
1 SubmittersRCV000258353 |
|
NM_000059.4(BRCA2):c.7436-2A>G
|
SNV Germline |
Chr13:32356426 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10602538 |
rs_397507917 |
3 SubmittersRCV000258250RCV001051245 |
|
NM_000059.4(BRCA2):c.7436-1G>C
|
SNV Germline |
Chr13:32356427 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA10602539 |
rs_886040939 |
1 SubmittersRCV000258487 |
|
NM_000059.4(BRCA2):c.7618-2A>G
|
SNV Germline |
Chr13:32357740 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA10602540 |
rs_886040940 |
12 SubmittersRCV000258279RCV000575023RCV000985589RCV001218656 |
|
NM_000059.4(BRCA2):c.7805+2T>G
|
SNV Germline |
Chr13:32357931 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA10602541 |
rs_886040941 |
1 SubmittersRCV000258291 |
|
NM_000059.4(BRCA2):c.7806-2A>T
|
SNV Germline |
Chr13:32362521 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10602542 |
rs_81002836 |
2 SubmittersRCV000258419RCV000585732 |
|
NM_000059.4(BRCA2):c.7976+2C>A
|
SNV Germline |
Chr13:32362695 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10602543 |
rs_886040943 |
3 SubmittersRCV000258308RCV001859528RCV005401410 |
|
NM_000059.4(BRCA2):c.7977-1G>A
|
SNV Germline |
Chr13:32363178 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10602545 |
rs_81002874 |
4 SubmittersRCV000258445RCV001388429RCV001176032 |
|
NM_000059.4(BRCA2):c.8331+2T>C
|
SNV Germline |
Chr13:32363535 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10602546 |
rs_398122602 |
17 SubmittersRCV000258355RCV000496246RCV000519723RCV000581266RCV003463731 |
|
NM_000059.4(BRCA2):c.8332-1G>A
|
SNV Germline |
Chr13:32370401 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10602547 |
rs_397507979 |
4 SubmittersRCV000258501RCV002503970RCV005251112 |
|
NM_000059.4(BRCA2):c.8487+2T>C
|
SNV Germline |
Chr13:32370559 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10602548 |
rs_886040944 |
2 SubmittersRCV000258227RCV002518791 |
|
NM_000059.4(BRCA2):c.8488-1G>T
|
SNV Germline |
Chr13:32370955 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10602549 |
rs_397507404 |
6 SubmittersRCV000258314RCV001017885RCV001051759RCV003477880RCV003475882 |
|
NM_000059.4(BRCA2):c.8754+1G>T
|
SNV Germline |
Chr13:32376792 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast carcinoma BRCA2-related disorder |
Criteria Provided Multiple Submitters No Conflicts |
CA10602551 |
rs_397508006 |
9 SubmittersRCV000258328RCV000430537RCV000570219RCV001380520RCV001572629RCV002221522 |
|
NM_000059.4(BRCA2):c.8953+2T>G
|
SNV Germline |
Chr13:32379517 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10602553 |
rs_886040947 |
2 SubmittersRCV000258290RCV002374444 |
|
NM_000059.4(BRCA2):c.8954-15T>G
|
SNV Germline |
Chr13:32379735 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast 8 conditions |
Criteria Provided Multiple Submitters No Conflicts |
CA10602554 |
rs_886040948 |
3 SubmittersRCV000258361RCV003463732RCV005396863 |
|
NM_000059.4(BRCA2):c.8954-5A>G
|
SNV Germline |
Chr13:32379745 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 |
Criteria Provided Multiple Submitters No Conflicts |
CA10602555 |
rs_886040949 |
14 SubmittersRCV000258499RCV000461006RCV000562165RCV000985614RCV002250610RCV003128237 |
|
NM_000059.4(BRCA2):c.9117G>T (p.Pro3039=)
|
SNV Germline |
Chr13:32379913 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10602557 |
rs_28897756 |
3 SubmittersRCV000258500RCV001227101 |
|
NM_000059.4(BRCA2):c.9117+2T>C
|
SNV Germline |
Chr13:32379915 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA10602558 |
rs_397508038 |
1 SubmittersRCV000258222 |
|
NM_000059.4(BRCA2):c.9118-2A>C
|
SNV Germline |
Chr13:32380005 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA10602560 |
rs_81002862 |
1 SubmittersRCV000258415 |
|
NM_000059.4(BRCA2):c.9118-2A>T
|
SNV Germline |
Chr13:32380005 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA10602561 |
rs_81002862 |
3 SubmittersRCV000258235RCV000820135RCV002374445 |
|
NM_000059.4(BRCA2):c.9118-1G>A
|
SNV Germline |
Chr13:32380006 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA10602562 |
rs_886040950 |
6 SubmittersRCV000258263RCV000726023RCV002518792RCV005532615 |
|
NM_000059.4(BRCA2):c.9257-2A>G
|
SNV Germline |
Chr13:32394687 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA10602565 |
rs_886040954 |
9 SubmittersRCV000258310RCV000456394RCV000510064RCV001553412RCV003475884RCV005355579 |
|
NM_000059.4(BRCA2):c.9501+1G>T
|
SNV Germline |
Chr13:32394934 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA10602568 |
rs_397508058 |
5 SubmittersRCV000258166RCV001019433RCV000779967RCV001800642 |
|
NM_000059.4(BRCA2):c.8860T>C (p.Ser2954Pro)
|
SNV Germline |
Chr13:32379422 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10603184 |
rs_886041145 |
5 SubmittersRCV000308900RCV000656808RCV000562009RCV001217254 |
|
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)
|
SNV Germline |
Chr13:32363315 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6941189 |
rs_756105620 |
9 SubmittersRCV000335958RCV000510067RCV000530767RCV001535652RCV000586599RCV003995749 |
|
NM_000059.4(BRCA2):c.7020A>G (p.Glu2340=)
|
SNV Germline |
Chr13:32354873 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10604012 |
rs_886042269 |
4 SubmittersRCV000344784RCV000581235RCV002059095 |
|
NM_000059.4(BRCA2):c.*172G>A
|
SNV Germline |
Chr13:32398942 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Fanconi anemia complementation group D1 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA10634119 |
rs_574944914 |
2 SubmittersRCV000288738RCV000382792RCV002262972 |
|
NM_000059.4(BRCA2):c.3415A>C (p.Lys1139Gln)
|
SNV Germline |
Chr13:32337770 |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA10643168 |
rs_747903103 |
3 SubmittersRCV000293210RCV000350466RCV003157506RCV005090455 |
|
NM_000059.4(BRCA2):c.*50A>G
|
SNV Germline |
Chr13:32398820 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Fanconi anemia complementation group D1 |
Criteria Provided Conflicting Classifications |
CA6941496 |
rs_761312704 |
2 SubmittersRCV000322262RCV000376854 |
|
NM_000059.4(BRCA2):c.1223T>C (p.Met408Thr)
|
SNV Germline |
Chr13:32332701 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16042137 |
rs_1057517562 |
5 SubmittersRCV000412475RCV001010412RCV001850978 |
|
NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter)
|
SNV Germline |
Chr13:32338829 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Multiple Submitters No Conflicts |
CA16042139 |
rs_1057517636 |
4 SubmittersRCV000411097RCV001850980RCV002328899RCV005355700 |
|
NM_000059.4(BRCA2):c.8557A>T (p.Lys2853Ter)
|
SNV Germline |
Chr13:32371025 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA16042861 |
rs_1057517865 |
4 SubmittersRCV001310184RCV000414464RCV000661783 |
|
NM_000059.4(BRCA2):c.1324T>G (p.Ser442Ala)
|
SNV Germline |
Chr13:32332802 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16043336 |
rs_1057518641 |
2 SubmittersRCV000413424RCV003157509 |
|
NM_000059.4(BRCA2):c.1370A>G (p.Lys457Arg)
|
SNV Germline |
Chr13:32332848 |
Conflicting classifications of pathogenicity |
Breast neoplasm Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940515 |
rs_771442299 |
3 SubmittersRCV000413908RCV001216354RCV003157508 |
|
NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter)
|
SNV Germline/somatic |
Chr13:32336621 |
Pathogenic |
Breast neoplasm Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Malignant tumor of urinary bladder |
Reviewed By Expert Panel |
CA16043337 |
rs_1057518637 |
5 SubmittersRCV000414647RCV000509837RCV000661584RCV001071001RCV003332165 |
|
NM_000059.4(BRCA2):c.4962T>A (p.Cys1654Ter)
|
SNV Germline |
Chr13:32339317 |
Pathogenic |
Breast neoplasm Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA16043338 |
rs_1057518638 |
3 SubmittersRCV000414119RCV000661485 |
|
NM_000059.4(BRCA2):c.6550C>T (p.Gln2184Ter)
|
SNV Germline |
Chr13:32340905 |
Pathogenic |
Breast neoplasm Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA16043340 |
rs_80358887 |
4 SubmittersRCV000413131RCV000661521RCV001380432RCV004022179 |
|
NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile)
|
SNV Germline |
Chr13:32340618 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940940 |
rs_767567428 |
10 SubmittersRCV000415863RCV000455182RCV000464688RCV000487865RCV000568895 |
|
NM_000059.4(BRCA2):c.-60A>G
|
SNV Germline |
Chr13:32315647 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16606404 |
rs_1057522793 |
2 SubmittersRCV000441128RCV001361386 |
|
NM_000059.4(BRCA2):c.1909+6T>A
|
SNV Germline |
Chr13:32333393 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16606419 |
rs_1057522382 |
3 SubmittersRCV000420996RCV000530737RCV001524772 |
|
NM_000059.4(BRCA2):c.4226T>A (p.Leu1409Ter)
|
SNV Germline |
Chr13:32338581 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA16606423 |
rs_1057520636 |
2 SubmittersRCV000435713RCV000661572 |
|
NM_000059.4(BRCA2):c.4354C>T (p.Gln1452Ter)
|
SNV Germline |
Chr13:32338709 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA16606424 |
rs_431825319 |
5 SubmittersRCV000423930RCV000661657RCV000792245RCV002328935 |
|
NM_000059.4(BRCA2):c.6640A>G (p.Thr2214Ala)
|
SNV Germline |
Chr13:32340995 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16606429 |
rs_377200598 |
5 SubmittersRCV000689694RCV000775914RCV001703679 |
|
NM_000059.4(BRCA2):c.9649-5A>G
|
SNV Germline |
Chr13:32398157 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16606458 |
rs_1057522325 |
5 SubmittersRCV000426647RCV001492370RCV004022399RCV001800670 |
|
NM_000059.4(BRCA2):c.-10G>C
|
SNV Germline |
Chr13:32316451 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940302 |
rs_754814638 |
3 SubmittersRCV000425961RCV001475044RCV001179123 |
|
NM_000059.4(BRCA2):c.960A>G (p.Leu320=)
|
SNV Germline |
Chr13:32332438 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16606655 |
rs_890456700 |
3 SubmittersRCV000431309RCV000637825RCV004999410 |
|
NM_000059.4(BRCA2):c.2819A>G (p.Gln940Arg)
|
SNV Germline |
Chr13:32337174 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16606666 |
rs_1057520249 |
6 SubmittersRCV000440722RCV001202899RCV002436244RCV004804993 |
|
NM_000059.4(BRCA2):c.7215C>A (p.Val2405=)
|
SNV Germline |
Chr13:32355068 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16606699 |
rs_1057521551 |
2 SubmittersRCV000418428RCV005520275 |
|
NM_000059.4(BRCA2):c.9990A>C (p.Glu3330Asp)
|
SNV Germline |
Chr13:32398503 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16606711 |
rs_1057520433 |
3 SubmittersRCV000438839RCV000472119RCV000571359 |
|
NM_000059.4(BRCA2):c.10018G>A (p.Ala3340Thr)
|
SNV Germline |
Chr13:32398531 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16606713 |
rs_919415219 |
4 SubmittersRCV000437924RCV001180015RCV002525390 |
|
NM_000059.4(BRCA2):c.-51C>T
|
SNV Germline |
Chr13:32315656 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16606763 |
rs_1057521841 |
3 SubmittersRCV000417554RCV001350222 |
|
NM_000059.4(BRCA2):c.7470A>G (p.Ile2490Met)
|
SNV Germline |
Chr13:32356462 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16606809 |
rs_1057520611 |
5 SubmittersRCV000417686RCV004999384RCV000694230RCV001026476RCV003996024 |
|
NM_000059.4(BRCA2):c.8355T>C (p.Pro2785=)
|
SNV Germline |
Chr13:32370425 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA16606823 |
rs_1057524419 |
6 SubmittersRCV000430153RCV000584263RCV002060084RCV004539911 |
|
NM_000059.4(BRCA2):c.9118-3T>C
|
SNV Germline |
Chr13:32380004 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16606828 |
rs_1057522934 |
2 SubmittersRCV000419809RCV003644982 |
|
NM_000059.4(BRCA2):c.9129A>G (p.Glu3043=)
|
SNV Germline |
Chr13:32380018 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16606832 |
rs_28897757 |
5 SubmittersRCV000443730RCV000870348RCV001018899RCV001703545 |
|
NM_000059.4(BRCA2):c.9130A>G (p.Ile3044Val)
|
SNV Germline |
Chr13:32380019 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16606834 |
rs_1057521760 |
2 SubmittersRCV000439951RCV005090769 |
|
NM_000059.4(BRCA2):c.10195G>A (p.Ala3399Thr)
|
SNV Germline |
Chr13:32398708 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16606845 |
rs_1057521734 |
3 SubmittersRCV000418421RCV000691460RCV002356562 |
|
NM_000059.4(BRCA2):c.2239G>A (p.Glu747Lys)
|
SNV Germline |
Chr13:32336594 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16607460 |
rs_878853561 |
5 SubmittersRCV001861518RCV002429388RCV000431436 |
|
NM_000059.4(BRCA2):c.3989A>G (p.Asn1330Ser)
|
SNV Germline |
Chr13:32338344 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16607464 |
rs_1057520792 |
5 SubmittersRCV000442000RCV000775925RCV001038220 |
|
NM_000059.4(BRCA2):c.6979T>C (p.Leu2327=)
|
SNV Germline |
Chr13:32346868 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16607480 |
rs_959097768 |
6 SubmittersRCV000422532RCV000567235RCV000460365RCV003477924RCV004805009 |
|
NM_000059.4(BRCA2):c.8170G>T (p.Gly2724Trp)
|
SNV Germline |
Chr13:32363372 |
Likely pathogenic |
Condition: not provided |
Criteria Provided Single Submitter |
CA16607488 |
rs_1057521184 |
1 SubmittersRCV000417977 |
|
NM_000059.4(BRCA2):c.8559A>G (p.Lys2853=)
|
SNV Germline |
Chr13:32371027 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16607496 |
rs_1057520669 |
4 SubmittersRCV000440350RCV001525970 |
|
NM_000059.4(BRCA2):c.9619A>T (p.Ile3207Phe)
|
SNV Germline |
Chr13:32397015 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16607500 |
rs_1057520802 |
3 SubmittersRCV000437230RCV003326427RCV005532643 |
|
NM_000059.4(BRCA2):c.9995C>G (p.Ser3332Cys)
|
SNV Germline |
Chr13:32398508 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16607505 |
rs_876658246 |
3 SubmittersRCV000432460RCV001218105RCV002379292 |
|
NM_000059.4(BRCA2):c.-39-1G>A
|
SNV Germline |
Chr13:32316421 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA16609830 |
rs_1060499566 |
3 SubmittersRCV000456118RCV005355792RCV003463835 |
|
NM_000059.4(BRCA2):c.632-2A>C
|
SNV Germline |
Chr13:32329441 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16613815 |
rs_397507842 |
3 SubmittersRCV000462608RCV000562710RCV004999463 |
|
NM_000059.4(BRCA2):c.1082A>G (p.Asn361Ser)
|
SNV Germline |
Chr13:32332560 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613829 |
rs_1060502495 |
2 SubmittersRCV000458230RCV003157554 |
|
NM_000059.4(BRCA2):c.1831T>G (p.Ser611Ala)
|
SNV Germline |
Chr13:32333309 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613843 |
rs_1060502431 |
2 SubmittersRCV000463684RCV003157536 |
|
NM_000059.4(BRCA2):c.1867A>G (p.Asn623Asp)
|
SNV Germline |
Chr13:32333345 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613846 |
rs_1060502388 |
3 SubmittersRCV000466100RCV000564189 |
|
NM_000059.4(BRCA2):c.1973C>T (p.Ser658Phe)
|
SNV Germline |
Chr13:32336328 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940570 |
rs_775060172 |
3 SubmittersRCV000463284RCV001176131 |
|
NM_000059.4(BRCA2):c.2362G>A (p.Gly788Ser)
|
SNV Germline |
Chr13:32336717 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16613860 |
rs_1060502434 |
5 SubmittersRCV000470991RCV001188078RCV001194023 |
|
NM_000059.4(BRCA2):c.2540G>A (p.Arg847Lys)
|
SNV Germline |
Chr13:32336895 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613862 |
rs_1060502457 |
2 SubmittersRCV000465737RCV003157543 |
|
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn)
|
SNV Germline |
Chr13:32337279 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613864 |
rs_398122756 |
11 SubmittersRCV000466456RCV000624980RCV000588340RCV002268084RCV002436435 |
|
NM_000059.4(BRCA2):c.3069C>A (p.Asn1023Lys)
|
SNV Germline |
Chr13:32337424 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940660 |
rs_759181823 |
5 SubmittersRCV000459905RCV000662934RCV001191078 |
|
NM_000059.4(BRCA2):c.3122G>C (p.Ser1041Thr)
|
SNV Germline |
Chr13:32337477 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613866 |
rs_276174832 |
8 SubmittersRCV000469157RCV000663133RCV002282154RCV004591319RCV000773051 |
|
NM_000059.4(BRCA2):c.3192A>G (p.Ser1064=)
|
SNV Germline |
Chr13:32337547 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA16613869 |
rs_1060504617 |
5 SubmittersRCV000459155RCV001180856RCV004999503RCV005239051 |
|
NM_000059.4(BRCA2):c.3251G>A (p.Ser1084Asn)
|
SNV Germline |
Chr13:32337606 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition not specified |
Criteria Provided Conflicting Classifications |
CA6940684 |
rs_543748012 |
8 SubmittersRCV000477381RCV000773251RCV001712318RCV004802038RCV003488624 |
|
NM_000059.4(BRCA2):c.3836A>G (p.Asn1279Ser)
|
SNV Germline |
Chr13:32338191 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16613874 |
rs_1060502384 |
9 SubmittersRCV000509695RCV000474984RCV002465659RCV004801999RCV003607287RCV004591318 |
|
NM_000059.4(BRCA2):c.4117A>G (p.Met1373Val)
|
SNV Germline |
Chr13:32338472 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940749 |
rs_781119815 |
3 SubmittersRCV000464729RCV003157537 |
|
NM_000059.4(BRCA2):c.4381T>C (p.Ser1461Pro)
|
SNV Germline |
Chr13:32338736 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613884 |
rs_1060502490 |
3 SubmittersRCV000467486RCV002329059 |
|
NM_000059.4(BRCA2):c.4504C>G (p.Gln1502Glu)
|
SNV Germline |
Chr13:32338859 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16613885 |
rs_1060502425 |
4 SubmittersRCV000458369RCV002339165RCV000985527 |
|
NM_000059.4(BRCA2):c.4861T>G (p.Cys1621Gly)
|
SNV Germline |
Chr13:32339216 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16613886 |
rs_1060502419 |
5 SubmittersRCV000459778RCV000580354RCV001805070 |
|
NM_000059.4(BRCA2):c.5275G>C (p.Asp1759His)
|
SNV Germline |
Chr13:32339630 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613889 |
rs_1060502456 |
2 SubmittersRCV000468148RCV003157541 |
|
NM_000059.4(BRCA2):c.5696A>G (p.Asp1899Gly)
|
SNV Germline |
Chr13:32340051 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613894 |
rs_1060502461 |
2 SubmittersRCV000462894RCV003157546 |
|
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr)
|
SNV Germline |
Chr13:32340240 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16613899 |
rs_1060502377 |
12 SubmittersRCV000457036RCV000499719RCV000564384RCV000770729RCV000989045RCV004701506RCV005230401RCV005365323 |
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
SNV Germline |
Chr13:32340885 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16613906 |
rs_1060502462 |
6 SubmittersRCV000458606RCV000776542RCV002496773RCV004802008 |
|
NM_000059.4(BRCA2):c.681+1G>T
|
SNV Germline |
Chr13:32329493 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA16613912 |
rs_398122565 |
1 SubmittersRCV000456729 |
|
NM_000059.4(BRCA2):c.6691G>T (p.Ala2231Ser)
|
SNV Germline |
Chr13:32341046 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613914 |
rs_758379999 |
2 SubmittersRCV000457998RCV003157528 |
|
NM_000059.4(BRCA2):c.6840G>T (p.Val2280=)
|
SNV Germline |
Chr13:32341195 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16613920 |
rs_1060504620 |
3 SubmittersRCV001430441RCV002367601RCV005239052 |
|
NM_000059.4(BRCA2):c.993A>C (p.Lys331Asn)
|
SNV Germline |
Chr13:32332471 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613923 |
rs_1060502486 |
3 SubmittersRCV000457199RCV003157552 |
|
NM_000059.4(BRCA2):c.1127T>C (p.Phe376Ser)
|
SNV Germline |
Chr13:32332605 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16613925 |
rs_80358410 |
8 SubmittersRCV000476619RCV001199865RCV000758858RCV000775932RCV004802012 |
|
NM_000059.4(BRCA2):c.7162A>G (p.Thr2388Ala)
|
SNV Germline |
Chr13:32355015 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16613931 |
rs_1060502390 |
6 SubmittersRCV000469239RCV000574955RCV000615171RCV003477975RCV004802000 |
|
NM_000059.4(BRCA2):c.1583A>G (p.Asn528Ser)
|
SNV Germline |
Chr13:32333061 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613933 |
rs_1060502393 |
4 SubmittersRCV000464630RCV000570319 |
|
NM_000059.4(BRCA2):c.1714G>C (p.Val572Leu)
|
SNV Germline |
Chr13:32333192 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16613934 |
rs_587782713 |
6 SubmittersRCV000506803RCV000475636RCV001192344RCV000989003 |
|
NM_000059.4(BRCA2):c.1949A>G (p.Asn650Ser)
|
SNV Germline |
Chr13:32336304 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940566 |
rs_773619645 |
6 SubmittersRCV000476081RCV000772732RCV001532895RCV004000812 |
|
NM_000059.4(BRCA2):c.2269A>G (p.Lys757Glu)
|
SNV Germline |
Chr13:32336624 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613937 |
rs_886040419 |
3 SubmittersRCV000456308RCV002446822 |
|
NM_000059.4(BRCA2):c.2841G>T (p.Leu947Phe)
|
SNV Germline |
Chr13:32337196 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940634 |
rs_769971508 |
5 SubmittersRCV000462471RCV000574394RCV001778965RCV004722781 |
|
NM_000059.4(BRCA2):c.2864A>G (p.Asn955Ser)
|
SNV Germline |
Chr13:32337219 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613941 |
rs_1060502435 |
2 SubmittersRCV000476520RCV003157538 |
|
NM_000059.4(BRCA2):c.3152T>C (p.Leu1051Ser)
|
SNV Germline |
Chr13:32337507 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940671 |
rs_778281493 |
5 SubmittersRCV000470166RCV000571433RCV000989021 |
|
NM_000059.4(BRCA2):c.3155C>T (p.Ala1052Val)
|
SNV Germline |
Chr13:32337510 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613944 |
rs_1060502453 |
4 SubmittersRCV000468157RCV000482169RCV002323727 |
|
NM_000059.4(BRCA2):c.3254A>C (p.His1085Pro)
|
SNV Germline |
Chr13:32337609 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16613945 |
rs_80358570 |
3 SubmittersRCV000457519RCV003157544RCV004000816 |
|
NM_000059.4(BRCA2):c.7807G>T (p.Ala2603Ser)
|
SNV Germline |
Chr13:32362524 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613947 |
rs_730881560 |
2 SubmittersRCV000467924RCV004022728 |
|
NM_000059.4(BRCA2):c.7967T>A (p.Leu2656Gln)
|
SNV Germline |
Chr13:32362684 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16613950 |
rs_886037817 |
3 SubmittersRCV000466411RCV001027008RCV004802009 |
|
NM_000059.4(BRCA2):c.3529G>A (p.Asp1177Asn)
|
SNV Germline |
Chr13:32337884 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613951 |
rs_1060502397 |
3 SubmittersRCV000468498RCV002339164 |
|
NM_000059.4(BRCA2):c.3630T>G (p.Asp1210Glu)
|
SNV Germline |
Chr13:32337985 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16613952 |
rs_786202991 |
6 SubmittersRCV000461988RCV000775808RCV002509389RCV003477976 |
|
NM_000059.4(BRCA2):c.3827A>T (p.Glu1276Val)
|
SNV Germline |
Chr13:32338182 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613956 |
rs_1060502487 |
2 SubmittersRCV000466876RCV003157553 |
|
NM_000059.4(BRCA2):c.8222A>G (p.Lys2741Arg)
|
SNV Germline |
Chr13:32363424 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16613957 |
rs_1060502428 |
4 SubmittersRCV000474199RCV003483623RCV002411477RCV005426018 |
|
NM_000059.4(BRCA2):c.8347A>G (p.Thr2783Ala)
|
SNV Germline |
Chr13:32370417 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613958 |
rs_1060502463 |
3 SubmittersRCV000469561RCV000775818 |
|
NM_000059.4(BRCA2):c.4244A>G (p.Glu1415Gly)
|
SNV Germline |
Chr13:32338599 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16613961 |
rs_1060502399 |
7 SubmittersRCV000478019RCV000471686RCV001189703RCV000781078RCV003327403 |
|
NM_000059.4(BRCA2):c.8411C>T (p.Pro2804Leu)
|
SNV Germline |
Chr13:32370481 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16613964 |
rs_876658705 |
4 SubmittersRCV000464375RCV000775812RCV003237869 |
|
NM_000059.4(BRCA2):c.9270C>A (p.Phe3090Leu)
|
SNV Germline |
Chr13:32394702 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16613971 |
rs_587780873 |
3 SubmittersRCV000476698RCV004000818 |
|
NM_000059.4(BRCA2):c.4536T>A (p.Arg1512=)
|
SNV Germline |
Chr13:32338891 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16613972 |
rs_1060504635 |
5 SubmittersRCV000472337RCV003584620RCV004002147RCV004772930 |
|
NM_000059.4(BRCA2):c.4709G>A (p.Arg1570Lys)
|
SNV Germline |
Chr13:32339064 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16613974 |
rs_1060502472 |
4 SubmittersRCV000472081RCV002329058RCV005247045 |
|
NM_000059.4(BRCA2):c.9442G>T (p.Ala3148Ser)
|
SNV Germline |
Chr13:32394874 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16613976 |
rs_949790323 |
7 SubmittersRCV000470163RCV000508342RCV000570747RCV000989087RCV005355838 |
|
NM_000059.4(BRCA2):c.4785G>T (p.Gln1595His)
|
SNV Germline |
Chr13:32339140 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16613977 |
rs_1060502499 |
3 SubmittersRCV000476642RCV003157555RCV001357236 |
|
NM_000059.4(BRCA2):c.5186A>C (p.Lys1729Thr)
|
SNV Germline |
Chr13:32339541 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6940852 |
rs_772860507 |
5 SubmittersRCV000474437RCV000772754RCV001778966 |
|
NM_000059.4(BRCA2):c.5402C>T (p.Pro1801Leu)
|
SNV Germline |
Chr13:32339757 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613981 |
rs_1060502429 |
3 SubmittersRCV000459413RCV003157535 |
|
NM_000059.4(BRCA2):c.5738G>A (p.Cys1913Tyr)
|
SNV Germline |
Chr13:32340093 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613982 |
rs_1060502460 |
4 SubmittersRCV000475767RCV000580620 |
|
NM_000059.4(BRCA2):c.5861C>T (p.Thr1954Ile)
|
SNV Germline |
Chr13:32340216 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613983 |
rs_1060502413 |
4 SubmittersRCV000500717RCV000473726RCV001524489 |
|
NM_000059.4(BRCA2):c.5900A>T (p.Lys1967Met)
|
SNV Germline |
Chr13:32340255 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16613988 |
rs_959089047 |
4 SubmittersRCV000458121RCV000561855RCV004802011 |
|
NM_000059.4(BRCA2):c.6246A>C (p.Glu2082Asp)
|
SNV Germline |
Chr13:32340601 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16613989 |
rs_1060502474 |
3 SubmittersRCV000472820RCV002365643 |
|
NM_000059.4(BRCA2):c.6271A>G (p.Ser2091Gly)
|
SNV Germline |
Chr13:32340626 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16613992 |
rs_398122550 |
6 SubmittersRCV000465291RCV002248685RCV001524355RCV003477979 |
|
NM_000059.4(BRCA2):c.6388T>C (p.Phe2130Leu)
|
SNV Germline |
Chr13:32340743 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16613994 |
rs_929941099 |
5 SubmittersRCV000459896RCV001025207RCV004999464 |
|
NM_000059.4(BRCA2):c.6697G>C (p.Ala2233Pro)
|
SNV Germline |
Chr13:32341052 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614001 |
rs_1060502396 |
3 SubmittersRCV000473859RCV003157529 |
|
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly)
|
SNV Germline |
Chr13:32376769 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6941287 |
rs_80359130 |
7 SubmittersRCV000468443RCV000780042RCV000509664RCV003463915RCV004802003 |
|
NM_000059.4(BRCA2):c.8766T>G (p.Ser2922Arg)
|
SNV Germline |
Chr13:32379328 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614020 |
rs_1060502497 |
3 SubmittersRCV000460726RCV000580679 |
|
NM_000059.4(BRCA2):c.426-1G>A
|
SNV Germline |
Chr13:32326100 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA16614098 |
rs_1060502485 |
1 SubmittersRCV000470985 |
|
NM_000059.4(BRCA2):c.636A>G (p.Arg212=)
|
SNV Germline |
Chr13:32329447 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16614101 |
rs_950724350 |
5 SubmittersRCV000469866RCV000563488RCV000588569RCV001534256 |
|
NM_000059.4(BRCA2):c.955A>G (p.Asn319Asp)
|
SNV Germline |
Chr13:32332433 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16614103 |
rs_1060502491 |
5 SubmittersRCV000462690RCV000583105RCV004000822 |
|
NM_000059.4(BRCA2):c.2027G>C (p.Cys676Ser)
|
SNV Germline |
Chr13:32336382 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614118 |
rs_1060502422 |
2 SubmittersRCV000461375RCV003157533 |
|
NM_000059.4(BRCA2):c.3112T>C (p.Tyr1038His)
|
SNV Germline |
Chr13:32337467 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614131 |
rs_1060502423 |
3 SubmittersRCV000460299RCV003157534 |
|
NM_000059.4(BRCA2):c.3191C>A (p.Ser1064Ter)
|
SNV Germline |
Chr13:32337546 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Reviewed By Expert Panel |
CA16614134 |
rs_864622609 |
4 SubmittersRCV000456624RCV000570603RCV000661562RCV003476089 |
|
NM_000059.4(BRCA2):c.3769C>A (p.Pro1257Thr)
|
SNV Germline |
Chr13:32338124 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614137 |
rs_1060502438 |
2 SubmittersRCV000466270RCV003157539 |
|
NM_000059.4(BRCA2):c.4024A>G (p.Ser1342Gly)
|
SNV Germline |
Chr13:32338379 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16614147 |
rs_1060502476 |
7 SubmittersRCV000481471RCV000662790RCV000564249RCV000476675 |
|
NM_000059.4(BRCA2):c.4347C>A (p.Phe1449Leu)
|
SNV Germline |
Chr13:32338702 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16614149 |
rs_1060502450 |
5 SubmittersRCV000466624RCV001183455RCV004802006 |
|
NM_000059.4(BRCA2):c.4798A>G (p.Asn1600Asp)
|
SNV Germline |
Chr13:32339153 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940814 |
rs_774484160 |
5 SubmittersRCV000456945RCV000567251RCV001283925 |
|
NM_000059.4(BRCA2):c.4970A>G (p.Asn1657Ser)
|
SNV Germline |
Chr13:32339325 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614154 |
rs_1060502382 |
2 SubmittersRCV000459262RCV003157524 |
|
NM_000059.4(BRCA2):c.4988T>C (p.Val1663Ala)
|
SNV Germline |
Chr13:32339343 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16614162 |
rs_1060502436 |
5 SubmittersRCV000461650RCV000775807RCV004701507 |
|
NM_000059.4(BRCA2):c.5081G>A (p.Arg1694Lys)
|
SNV Germline |
Chr13:32339436 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16614170 |
rs_753721331 |
5 SubmittersRCV000461678RCV003157551RCV002272244RCV003607288 |
|
NM_000059.4(BRCA2):c.5864C>T (p.Ser1955Leu)
|
SNV Germline |
Chr13:32340219 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614179 |
rs_80358815 |
4 SubmittersRCV000476307RCV000775930 |
|
NM_000059.4(BRCA2):c.6084A>C (p.Glu2028Asp)
|
SNV Germline |
Chr13:32340439 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16614188 |
rs_747773227 |
4 SubmittersRCV000458386RCV002356684RCV004802007 |
|
NM_000059.4(BRCA2):c.6089A>G (p.Asn2030Ser)
|
SNV Germline |
Chr13:32340444 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614190 |
rs_1060502402 |
3 SubmittersRCV000465240RCV003157530 |
|
NM_000059.4(BRCA2):c.6476A>G (p.Gln2159Arg)
|
SNV Germline |
Chr13:32340831 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16614195 |
rs_763486267 |
5 SubmittersRCV000462034RCV000573880RCV004596195 |
|
NM_000059.4(BRCA2):c.6631G>T (p.Val2211Phe)
|
SNV Germline |
Chr13:32340986 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614197 |
rs_1060502445 |
4 SubmittersRCV000466730RCV004722782RCV002365642 |
|
NM_000059.4(BRCA2):c.6697G>A (p.Ala2233Thr)
|
SNV Germline |
Chr13:32341052 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16614198 |
rs_1060502396 |
3 SubmittersRCV000471117RCV003157545RCV004999465 |
|
NM_000059.4(BRCA2):c.6812A>G (p.Lys2271Arg)
|
SNV Germline |
Chr13:32341167 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614200 |
rs_577406621 |
2 SubmittersRCV000469676RCV003157547 |
|
NM_000059.4(BRCA2):c.7676C>G (p.Ser2559Cys)
|
SNV Germline |
Chr13:32357800 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Familial pancreatic carcinoma Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16614210 |
rs_1060502421 |
7 SubmittersRCV000473973RCV001026696RCV001764422RCV004000811RCV003476086RCV005355839 |
|
NM_000059.4(BRCA2):c.7722G>A (p.Trp2574Ter)
|
SNV Germline/somatic |
Chr13:32357846 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of urinary bladder Familial cancer of breast |
Reviewed By Expert Panel |
CA16614212 |
rs_1060502433 |
6 SubmittersRCV000472083RCV000563168RCV000661664RCV003332176RCV003476088 |
|
NM_000059.4(BRCA2):c.7876T>A (p.Trp2626Arg)
|
SNV Germline |
Chr13:32362593 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA16614217 |
rs_1060502459 |
2 SubmittersRCV000465347RCV005434936 |
|
NM_000059.4(BRCA2):c.7993G>T (p.Asp2665Tyr)
|
SNV Germline |
Chr13:32363195 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16614221 |
rs_921017191 |
4 SubmittersRCV000475758RCV000580611RCV002298600 |
|
NM_000059.4(BRCA2):c.1087A>G (p.Thr363Ala)
|
SNV Germline |
Chr13:32332565 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614223 |
rs_1060502440 |
3 SubmittersRCV000464652RCV003157540 |
|
NM_000059.4(BRCA2):c.8077A>G (p.Ile2693Val)
|
SNV Germline |
Chr13:32363279 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614227 |
rs_1060502493 |
3 SubmittersRCV000457485RCV003338599 |
|
NM_000059.4(BRCA2):c.8488-10A>G
|
SNV Germline |
Chr13:32370946 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6941249 |
rs_749196803 |
4 SubmittersRCV000480693RCV001089135RCV001194059RCV001190857 |
|
NM_000059.4(BRCA2):c.1845C>A (p.Asn615Lys)
|
SNV Germline |
Chr13:32333323 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16614236 |
rs_941500711 |
6 SubmittersRCV000462345RCV001284558RCV002411478RCV004000820 |
|
NM_000059.4(BRCA2):c.2153A>C (p.Glu718Ala)
|
SNV Germline |
Chr13:32336508 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614243 |
rs_1060502427 |
3 SubmittersRCV000460441RCV002429512 |
|
NM_000059.4(BRCA2):c.2359A>G (p.Arg787Gly)
|
SNV Germline |
Chr13:32336714 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614246 |
rs_1060502451 |
3 SubmittersRCV000468693RCV001015282 |
|
NM_000059.4(BRCA2):c.2383T>C (p.Ser795Pro)
|
SNV Germline |
Chr13:32336738 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614249 |
rs_878853563 |
2 SubmittersRCV000459755RCV003157531 |
|
NM_000059.4(BRCA2):c.2590C>T (p.Gln864Ter)
|
SNV Germline |
Chr13:32336945 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Reviewed By Expert Panel |
CA16614253 |
rs_1060502414 |
4 SubmittersRCV000461340RCV000661527RCV002429511RCV002480411 |
|
NM_000059.4(BRCA2):c.2661G>C (p.Glu887Asp)
|
SNV Germline |
Chr13:32337016 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16614255 |
rs_876659892 |
5 SubmittersRCV000467039RCV002429513RCV004000815 |
|
NM_000059.4(BRCA2):c.3077A>G (p.Lys1026Arg)
|
SNV Germline |
Chr13:32337432 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA16614262 |
rs_1060502380 |
7 SubmittersRCV000474203RCV000561730RCV004000807RCV005230402RCV005431681 |
|
NM_000059.4(BRCA2):c.3106G>T (p.Glu1036Ter)
|
SNV Germline |
Chr13:32337461 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Familial cancer of breast Familial colorectal cancer type X |
Reviewed By Expert Panel |
CA16614263 |
rs_1060502449 |
7 SubmittersRCV000456163RCV000567715RCV000661471RCV005230403RCV003463918RCV005355840 |
|
NM_000059.4(BRCA2):c.3227T>C (p.Val1076Ala)
|
SNV Germline |
Chr13:32337582 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16614265 |
rs_1060502498 |
8 SubmittersRCV000477400RCV000564131RCV000985497RCV001355655RCV005421802 |
|
NM_000059.4(BRCA2):c.3252T>G (p.Ser1084Arg)
|
SNV Germline |
Chr13:32337607 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16614266 |
rs_1060502412 |
4 SubmittersRCV000474282RCV002323726RCV004000810 |
|
NM_000059.4(BRCA2):c.3482A>G (p.Asp1161Gly)
|
SNV Germline |
Chr13:32337837 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16614289 |
rs_1060502458 |
5 SubmittersRCV000469662RCV003153626RCV002451114RCV003987541 |
|
NM_000059.4(BRCA2):c.3515C>A (p.Ser1172Ter)
|
SNV Germline |
Chr13:32337870 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA16614291 |
rs_80358600 |
2 SubmittersRCV000460996RCV000661679 |
|
NM_000059.4(BRCA2):c.3595G>A (p.Asp1199Asn)
|
SNV Germline |
Chr13:32337950 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16614292 |
rs_1060502404 |
9 SubmittersRCV000476241RCV000484479RCV001192346RCV002466506RCV004802004 |
|
NM_000059.4(BRCA2):c.3704A>G (p.Gln1235Arg)
|
SNV Germline |
Chr13:32338059 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614294 |
rs_1060502424 |
4 SubmittersRCV000467120RCV002348318 |
|
NM_000059.4(BRCA2):c.4039G>A (p.Val1347Ile)
|
SNV Germline |
Chr13:32338394 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16614299 |
rs_80358653 |
4 SubmittersRCV000470587RCV003157548RCV004000817 |
|
NM_000059.4(BRCA2):c.4085A>G (p.His1362Arg)
|
SNV Germline |
Chr13:32338440 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16614300 |
rs_1060502441 |
6 SubmittersRCV000474555RCV000775929RCV002250631 |
|
NM_000059.4(BRCA2):c.4335A>C (p.Lys1445Asn)
|
SNV Germline |
Chr13:32338690 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614301 |
rs_1060502480 |
2 SubmittersRCV000457135RCV003157550 |
|
NM_000059.4(BRCA2):c.4414A>G (p.Lys1472Glu)
|
SNV Germline |
Chr13:32338769 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940778 |
rs_757821270 |
5 SubmittersRCV000470451RCV001022450RCV000501166RCV004802002 |
|
NM_000059.4(BRCA2):c.4597A>G (p.Lys1533Glu)
|
SNV Germline |
Chr13:32338952 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16614306 |
rs_1060502418 |
4 SubmittersRCV000464981RCV000985530RCV003157532RCV004802005 |
|
NM_000059.4(BRCA2):c.4676T>G (p.Phe1559Cys)
|
SNV Germline |
Chr13:32339031 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614311 |
rs_1060502411 |
5 SubmittersRCV000466045RCV000508294RCV000509834 |
|
NM_000059.4(BRCA2):c.5373A>G (p.Ile1791Met)
|
SNV Germline |
Chr13:32339728 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16614316 |
rs_1060502406 |
7 SubmittersRCV000458614RCV000775800RCV002509388RCV004816677 |
|
NM_000059.4(BRCA2):c.5687C>T (p.Ala1896Val)
|
SNV Germline |
Chr13:32340042 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614323 |
rs_730881539 |
3 SubmittersRCV000474407RCV000989042RCV003157526 |
|
NM_000059.4(BRCA2):c.5764G>T (p.Ala1922Ser)
|
SNV Germline |
Chr13:32340119 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16614327 |
rs_397507361 |
4 SubmittersRCV000476228RCV003157542RCV003477977 |
|
NM_000059.4(BRCA2):c.6044T>C (p.Leu2015Ser)
|
SNV Germline |
Chr13:32340399 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16614330 |
rs_587776468 |
5 SubmittersRCV000469766RCV000581542RCV004000819 |
|
NM_000059.4(BRCA2):c.6272G>C (p.Ser2091Thr)
|
SNV Germline |
Chr13:32340627 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614333 |
rs_1060502389 |
2 SubmittersRCV000467843RCV003157527 |
|
NM_000059.4(BRCA2):c.6557C>T (p.Ser2186Leu)
|
SNV Germline |
Chr13:32340912 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614339 |
rs_397507867 |
2 SubmittersRCV000475735RCV003157525 |
|
NM_000059.4(BRCA2):c.6837A>G (p.Leu2279=)
|
SNV Germline |
Chr13:32341192 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614341 |
rs_431825346 |
2 SubmittersRCV000458859RCV000563047 |
|
NM_000059.4(BRCA2):c.7605T>G (p.Cys2535Trp)
|
SNV Germline |
Chr13:32356597 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA16614351 |
rs_966152147 |
7 SubmittersRCV000469552RCV000480630RCV000570362RCV003463914RCV004000808RCV005239033 |
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
SNV Germline |
Chr13:32363371 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16614371 |
rs_1060502432 |
6 SubmittersRCV000467822RCV000568974RCV003476087 |
|
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser)
|
SNV Germline |
Chr13:32363444 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA16614372 |
rs_56371528 |
8 SubmittersRCV000459448RCV000582320RCV004568040RCV003227754 |
|
NM_000059.4(BRCA2):c.8544A>C (p.Glu2848Asp)
|
SNV Germline |
Chr13:32371012 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614373 |
rs_786201871 |
2 SubmittersRCV000474464RCV001017976 |
|
NM_000059.4(BRCA2):c.8875G>A (p.Glu2959Lys)
|
SNV Germline |
Chr13:32379437 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA16614376 |
rs_786202920 |
4 SubmittersRCV000463176RCV000776335RCV005010363 |
|
NM_000059.4(BRCA2):c.8982A>T (p.Ser2994=)
|
SNV Germline |
Chr13:32379778 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16614378 |
rs_1060504623 |
6 SubmittersRCV000472545RCV000615420RCV001188081RCV004802036 |
|
NM_000059.4(BRCA2):c.9015A>G (p.Arg3005=)
|
SNV Germline |
Chr13:32379811 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA16614385 |
rs_1060502477 |
4 SubmittersRCV000463929RCV000677098RCV005365325 |
|
NM_000059.4(BRCA2):c.9035C>G (p.Ala3012Gly)
|
SNV Germline |
Chr13:32379831 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16614386 |
rs_768335521 |
5 SubmittersRCV000456830RCV000589531RCV002374782RCV004802001 |
|
NM_000059.4(BRCA2):c.9249A>G (p.Lys3083=)
|
SNV Germline |
Chr13:32380138 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16614392 |
rs_80359191 |
2 SubmittersRCV000472575RCV003477978 |
|
NM_000059.4(BRCA2):c.9284A>G (p.Asp3095Gly)
|
SNV Germline |
Chr13:32394716 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA16614398 |
rs_1060502443 |
4 SubmittersRCV000461281RCV000757042RCV002374783 |
|
NM_000059.4(BRCA2):c.10124G>A (p.Ser3375Asn)
|
SNV Germline |
Chr13:32398637 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16614409 |
rs_1060502452 |
3 SubmittersRCV000461534RCV000609346RCV002451113 |
|
NM_000059.4(BRCA2):c.10249T>C (p.Tyr3417His)
|
SNV Germline |
Chr13:32398762 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6941484 |
rs_535952730 |
6 SubmittersRCV000474923RCV000574730RCV000615202RCV001284407 |
|
NM_000059.4(BRCA2):c.4983T>G (p.Tyr1661Ter)
|
SNV Germline |
Chr13:32339338 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA16616709 |
rs_1060499833 |
2 SubmittersRCV000469488 |
|
NM_000059.4(BRCA2):c.9311A>G (p.Lys3104Arg)
|
SNV Germline |
Chr13:32394743 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16616711 |
rs_956554593 |
5 SubmittersRCV000461266RCV000563366RCV001325149RCV002248695RCV001584193 |
|
NM_000059.4(BRCA2):c.37G>A (p.Glu13Lys)
|
SNV Germline |
Chr13:32316497 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16619632 |
rs_80358622 |
6 SubmittersRCV000478846RCV000543750RCV001021183RCV001420826RCV003463977 |
|
NM_000059.4(BRCA2):c.426-20T>G
|
SNV Germline |
Chr13:32326081 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619644 |
rs_1064795008 |
4 SubmittersRCV001269202RCV000484138RCV000775862RCV002525865 |
|
NM_000059.4(BRCA2):c.631+1G>C
|
SNV Germline |
Chr13:32326614 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA16619647 |
rs_81002897 |
3 SubmittersRCV000485170RCV003168968RCV004720260 |
|
NM_000059.4(BRCA2):c.755A>G (p.Asp252Gly)
|
SNV Germline |
Chr13:32330992 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619649 |
rs_1064793332 |
3 SubmittersRCV000480840RCV002525775RCV005520287 |
|
NM_000059.4(BRCA2):c.767C>T (p.Thr256Ile)
|
SNV Germline |
Chr13:32331004 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA16619650 |
rs_1064794265 |
6 SubmittersRCV000509824RCV000766910RCV001231133RCV004691783 |
|
NM_000059.4(BRCA2):c.851G>A (p.Gly284Glu)
|
SNV Germline |
Chr13:32332329 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619651 |
rs_1064793865 |
5 SubmittersRCV000759673RCV001017940RCV003644988 |
|
NM_000059.4(BRCA2):c.913G>T (p.Glu305Ter)
|
SNV Germline |
Chr13:32332391 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA16619652 |
rs_80359169 |
2 SubmittersRCV000661408RCV000487219 |
|
NM_000059.4(BRCA2):c.1151C>G (p.Ser384Cys)
|
SNV Germline |
Chr13:32332629 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619653 |
rs_41293475 |
5 SubmittersRCV000484001RCV001069889RCV003157590RCV001788234 |
|
NM_000059.4(BRCA2):c.1302A>C (p.Lys434Asn)
|
SNV Germline |
Chr13:32332780 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619655 |
rs_200552004 |
2 SubmittersRCV000480062RCV003157558 |
|
NM_000059.4(BRCA2):c.1322C>T (p.Thr441Ile)
|
SNV Germline |
Chr13:32332800 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619657 |
rs_1064793062 |
4 SubmittersRCV000483055RCV001193992RCV003157559RCV002525754 |
|
NM_000059.4(BRCA2):c.1490C>T (p.Ser497Leu)
|
SNV Germline |
Chr13:32332968 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA16619659 |
rs_1064794018 |
6 SubmittersRCV000486670RCV001050810RCV000773057RCV005010389 |
|
NM_000059.4(BRCA2):c.1499G>T (p.Gly500Val)
|
SNV Germline |
Chr13:32332977 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619660 |
rs_1064795525 |
4 SubmittersRCV001800701RCV000486849RCV003157587RCV003766701 |
|
NM_000059.4(BRCA2):c.1681G>C (p.Gly561Arg)
|
SNV Germline |
Chr13:32333159 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619661 |
rs_80358455 |
6 SubmittersRCV000486839RCV000692840RCV002402375RCV003234559 |
|
NM_000059.4(BRCA2):c.1822G>A (p.Asp608Asn)
|
SNV Germline |
Chr13:32333300 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16619662 |
rs_1064794170 |
6 SubmittersRCV000637768RCV000563223RCV000758867RCV004802061 |
|
NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu)
|
SNV Germline |
Chr13:32333338 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16619665 |
rs_1064793402 |
9 SubmittersRCV000548581RCV000775934RCV000758868 |
|
NM_000059.4(BRCA2):c.2315C>T (p.Thr772Ile)
|
SNV Germline |
Chr13:32336670 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619669 |
rs_1064794522 |
5 SubmittersRCV000479708RCV000580617RCV001321251 |
|
NM_000059.4(BRCA2):c.2333T>C (p.Val778Ala)
|
SNV Germline |
Chr13:32336688 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619670 |
rs_1064793704 |
4 SubmittersRCV000480323RCV001214583RCV003479134RCV003157571 |
|
NM_000059.4(BRCA2):c.2383T>G (p.Ser795Ala)
|
SNV Germline |
Chr13:32336738 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619672 |
rs_878853563 |
6 SubmittersRCV000481432RCV000766376RCV001015353RCV001347000 |
|
NM_000059.4(BRCA2):c.2401A>G (p.Asn801Asp)
|
SNV Germline |
Chr13:32336756 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940604 |
rs_765279896 |
6 SubmittersRCV000989011RCV000479358RCV000801572RCV000580193 |
|
NM_000059.4(BRCA2):c.2502G>T (p.Leu834Phe)
|
SNV Germline |
Chr13:32336857 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619673 |
rs_1064794947 |
3 SubmittersRCV000486108RCV003157581RCV003644991 |
|
NM_000059.4(BRCA2):c.2636C>G (p.Ser879Cys)
|
SNV Germline |
Chr13:32336991 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619674 |
rs_1064793412 |
3 SubmittersRCV000485516RCV002431393 |
|
NM_000059.4(BRCA2):c.2665A>G (p.Asn889Asp)
|
SNV Germline |
Chr13:32337020 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619675 |
rs_1020818778 |
4 SubmittersRCV000478657RCV001856827RCV003157568 |
|
NM_000059.4(BRCA2):c.2915A>G (p.Lys972Arg)
|
SNV Germline |
Chr13:32337270 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16619678 |
rs_1064794885 |
5 SubmittersRCV000528453RCV000564626RCV000483494 |
|
NM_000059.4(BRCA2):c.2963A>G (p.Asp988Gly)
|
SNV Germline |
Chr13:32337318 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619679 |
rs_876659509 |
4 SubmittersRCV000487113RCV001017688RCV001340301 |
|
NM_000059.4(BRCA2):c.3071T>A (p.Ile1024Asn)
|
SNV Germline |
Chr13:32337426 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940661 |
rs_764921920 |
6 SubmittersRCV000481872RCV000545081RCV002319505RCV003483635 |
|
NM_000059.4(BRCA2):c.3085A>C (p.Met1029Leu)
|
SNV Germline |
Chr13:32337440 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619683 |
rs_80358553 |
4 SubmittersRCV000485239RCV001210580RCV002323820 |
|
NM_000059.4(BRCA2):c.3109C>A (p.Gln1037Lys)
|
SNV Germline |
Chr13:32337464 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619684 |
rs_80358557 |
4 SubmittersRCV000480866RCV003157576RCV003644990 |
|
NM_000059.4(BRCA2):c.3154G>C (p.Ala1052Pro)
|
SNV Germline |
Chr13:32337509 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16619686 |
rs_730881520 |
4 SubmittersRCV000478435RCV003157585RCV003530051RCV001824801 |
|
NM_000059.4(BRCA2):c.3161A>G (p.Asp1054Gly)
|
SNV Germline |
Chr13:32337516 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619687 |
rs_1064793624 |
4 SubmittersRCV000483194RCV001865436RCV002323818 |
|
NM_000059.4(BRCA2):c.3165T>G (p.Asn1055Lys)
|
SNV Germline |
Chr13:32337520 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619688 |
rs_1064793384 |
3 SubmittersRCV000480925RCV000580969 |
|
NM_000059.4(BRCA2):c.3176T>G (p.Leu1059Arg)
|
SNV Germline |
Chr13:32337531 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16619689 |
rs_1064793927 |
6 SubmittersRCV000486653RCV000576066RCV000691591RCV002469170 |
|
NM_000059.4(BRCA2):c.3188A>C (p.Gln1063Pro)
|
SNV Germline |
Chr13:32337543 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619690 |
rs_775030825 |
6 SubmittersRCV000775945RCV000637621RCV003221425RCV004002301 |
|
NM_000059.4(BRCA2):c.3238G>C (p.Asp1080His)
|
SNV Germline |
Chr13:32337593 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16619693 |
rs_1064794159 |
6 SubmittersRCV000481777RCV001019352RCV001225596RCV003155203 |
|
NM_000059.4(BRCA2):c.3242G>A (p.Cys1081Tyr)
|
SNV Germline |
Chr13:32337597 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16619694 |
rs_752871893 |
7 SubmittersRCV000482401RCV000579848RCV000812619RCV002265776 |
|
NM_000059.4(BRCA2):c.3272T>A (p.Leu1091Ter)
|
SNV Germline |
Chr13:32337627 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA16619695 |
rs_1064795577 |
2 SubmittersRCV000479923RCV000661480 |
|
NM_000059.4(BRCA2):c.3712G>A (p.Val1238Met)
|
SNV Germline |
Chr13:32338067 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619699 |
rs_1064794685 |
2 SubmittersRCV000480877RCV003157579 |
|
NM_000059.4(BRCA2):c.3852T>G (p.Ser1284Arg)
|
SNV Germline |
Chr13:32338207 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940729 |
rs_777895333 |
5 SubmittersRCV000479311RCV000570596RCV001217942 |
|
NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp)
|
SNV Germline |
Chr13:32338349 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA16619701 |
rs_863224588 |
7 SubmittersRCV001244602RCV000588273RCV000775953RCV001357145 |
|
NM_000059.4(BRCA2):c.4105T>C (p.Ser1369Pro)
|
SNV Germline |
Chr13:32338460 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940747 |
rs_138567364 |
8 SubmittersRCV000483881RCV000565773RCV001731708RCV001043410RCV004002314 |
|
NM_000059.4(BRCA2):c.4254A>G (p.Ile1418Met)
|
SNV Germline |
Chr13:32338609 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619702 |
rs_1064793378 |
4 SubmittersRCV000485031RCV000804771RCV001526926RCV003157564 |
|
NM_000059.4(BRCA2):c.4296T>G (p.Ser1432Arg)
|
SNV Germline |
Chr13:32338651 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619704 |
rs_1064793065 |
4 SubmittersRCV000478821RCV002329138RCV001215412 |
|
NM_000059.4(BRCA2):c.4320A>C (p.Lys1440Asn)
|
SNV Germline |
Chr13:32338675 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940771 |
rs_769535925 |
8 SubmittersRCV000478901RCV000529148RCV001022289RCV001194413RCV004002281 |
|
NM_000059.4(BRCA2):c.4339G>A (p.Val1447Ile)
|
SNV Germline |
Chr13:32338694 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619706 |
rs_1064795076 |
4 SubmittersRCV000482796RCV003157584RCV003644992 |
|
NM_000059.4(BRCA2):c.4343A>T (p.Asn1448Ile)
|
SNV Germline |
Chr13:32338698 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940772 |
rs_762841458 |
5 SubmittersRCV000482410RCV001064567RCV003157560 |
|
NM_000059.4(BRCA2):c.4344T>G (p.Asn1448Lys)
|
SNV Germline |
Chr13:32338699 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619707 |
rs_1064793724 |
7 SubmittersRCV000481338RCV000539583RCV002329146RCV001192534RCV004002291 |
|
NM_000059.4(BRCA2):c.4399C>T (p.His1467Tyr)
|
SNV Germline |
Chr13:32338754 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619708 |
rs_1064793495 |
5 SubmittersRCV000484223RCV001022418RCV001050664 |
|
NM_000059.4(BRCA2):c.4871C>G (p.Thr1624Ser)
|
SNV Germline |
Chr13:32339226 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940822 |
rs_781045037 |
3 SubmittersRCV000480967RCV003157572 |
|
NM_000059.4(BRCA2):c.5084A>T (p.Glu1695Val)
|
SNV Germline |
Chr13:32339439 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619717 |
rs_397507347 |
5 SubmittersRCV000480557RCV000569626RCV002525787 |
|
NM_000059.4(BRCA2):c.5110A>T (p.Arg1704Ter)
|
SNV Germline |
Chr13:32339465 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA16619718 |
rs_1064795652 |
5 SubmittersRCV001382436RCV000661851RCV000487145RCV002350070 |
|
NM_000059.4(BRCA2):c.5144T>C (p.Leu1715Ser)
|
SNV Germline |
Chr13:32339499 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619719 |
rs_1064793634 |
8 SubmittersRCV000570188RCV000587158RCV000637698RCV000855638RCV004002298 |
|
NM_000059.4(BRCA2):c.5144T>G (p.Leu1715Trp)
|
SNV Germline |
Chr13:32339499 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619720 |
rs_1064793634 |
3 SubmittersRCV000486142RCV002526537RCV003157570 |
|
NM_000059.4(BRCA2):c.5386G>T (p.Asp1796Tyr)
|
SNV Germline |
Chr13:32339741 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16619723 |
rs_1064793715 |
7 SubmittersRCV000484942RCV000555277RCV002350057RCV003483634RCV003607291RCV004802053 |
|
NM_000059.4(BRCA2):c.5400C>G (p.Tyr1800Ter)
|
SNV Germline |
Chr13:32339755 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA16619724 |
rs_780919805 |
2 SubmittersRCV000661414RCV000486013 |
|
NM_000059.4(BRCA2):c.5632A>G (p.Asn1878Asp)
|
SNV Germline |
Chr13:32339987 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16619729 |
rs_397507358 |
6 SubmittersRCV000581757RCV000480280RCV000817294RCV003987559 |
|
NM_000059.4(BRCA2):c.5900A>G (p.Lys1967Arg)
|
SNV Germline |
Chr13:32340255 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619732 |
rs_959089047 |
8 SubmittersRCV000487031RCV000553708RCV000563594RCV003493591 |
|
NM_000059.4(BRCA2):c.5914G>C (p.Ala1972Pro)
|
SNV Germline |
Chr13:32340269 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619733 |
rs_1064795405 |
2 SubmittersRCV000479769RCV003157586 |
|
NM_000059.4(BRCA2):c.5970T>G (p.Asp1990Glu)
|
SNV Germline |
Chr13:32340325 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Ovarian cancer BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16619734 |
rs_1064794160 |
8 SubmittersRCV000485637RCV001364757RCV000776240RCV003153661RCV004802060RCV005365350 |
|
NM_000059.4(BRCA2):c.5990G>A (p.Arg1997Lys)
|
SNV Germline |
Chr13:32340345 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619735 |
rs_1064793478 |
7 SubmittersRCV000586598RCV001302502RCV002356768 |
|
NM_000059.4(BRCA2):c.6109G>A (p.Glu2037Lys)
|
SNV Germline |
Chr13:32340464 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619736 |
rs_1064795651 |
4 SubmittersRCV000483807RCV000811660RCV003157589 |
|
NM_000059.4(BRCA2):c.6209A>G (p.Glu2070Gly)
|
SNV Germline |
Chr13:32340564 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA16619737 |
rs_1064793809 |
6 SubmittersRCV000509660RCV000766430RCV001061542RCV004525943 |
|
NM_000059.4(BRCA2):c.6233G>T (p.Gly2078Val)
|
SNV Germline |
Chr13:32340588 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940938 |
rs_769883812 |
6 SubmittersRCV000484329RCV000821918RCV001184327RCV004802068 |
|
NM_000059.4(BRCA2):c.6273T>A (p.Ser2091Arg)
|
SNV Germline |
Chr13:32340628 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619739 |
rs_966360777 |
6 SubmittersRCV000480122RCV001047459RCV002356763RCV003221424RCV004002239 |
|
NM_000059.4(BRCA2):c.6357C>G (p.Asn2119Lys)
|
SNV Germline |
Chr13:32340712 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619741 |
rs_1064794110 |
5 SubmittersRCV000481129RCV000697738RCV001025168RCV004002317 |
|
NM_000059.4(BRCA2):c.6369A>C (p.Glu2123Asp)
|
SNV Germline |
Chr13:32340724 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16619742 |
rs_1064793571 |
10 SubmittersRCV000478478RCV000509671RCV000624984RCV001207453RCV004802051 |
|
NM_000059.4(BRCA2):c.6430G>A (p.Glu2144Lys)
|
SNV Germline |
Chr13:32340785 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940953 |
rs_755967190 |
4 SubmittersRCV001057887RCV000484424RCV003157588 |
|
NM_000059.4(BRCA2):c.6445A>C (p.Ile2149Leu)
|
SNV Germline |
Chr13:32340800 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16619745 |
rs_786202013 |
3 SubmittersRCV001188864RCV000485672 |
|
NM_000059.4(BRCA2):c.6452T>G (p.Val2151Gly)
|
SNV Germline |
Chr13:32340807 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619746 |
rs_1064793743 |
7 SubmittersRCV000484418RCV000775947RCV000766361RCV003766668RCV004002295 |
|
NM_000059.4(BRCA2):c.6455C>T (p.Ser2152Phe)
|
SNV Germline |
Chr13:32340810 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619747 |
rs_80358881 |
6 SubmittersRCV000480266RCV000510135RCV001851176RCV004003311 |
|
NM_000059.4(BRCA2):c.6485A>G (p.Lys2162Arg)
|
SNV Germline |
Chr13:32340840 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940960 |
rs_11571660 |
9 SubmittersRCV000478743RCV000772763RCV001203351RCV003321631RCV001770369 |
|
NM_000059.4(BRCA2):c.6548A>T (p.Glu2183Val)
|
SNV Germline |
Chr13:32340903 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619750 |
rs_1064793068 |
2 SubmittersRCV000481181RCV003157562 |
|
NM_000059.4(BRCA2):c.6743A>G (p.His2248Arg)
|
SNV Germline |
Chr13:32341098 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619752 |
rs_1064793995 |
4 SubmittersRCV000481203RCV000637686RCV001025604 |
|
NM_000059.4(BRCA2):c.7351G>A (p.Asp2451Asn)
|
SNV Germline |
Chr13:32355204 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619761 |
rs_1064794968 |
4 SubmittersRCV000478658RCV004948361RCV002525861 |
|
NM_000059.4(BRCA2):c.7629T>A (p.Tyr2543Ter)
|
SNV Germline |
Chr13:32357753 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA16619766 |
rs_1064794521 |
4 SubmittersRCV000485706RCV000661778RCV002395158 |
|
NM_000059.4(BRCA2):c.7723A>G (p.Thr2575Ala)
|
SNV Germline |
Chr13:32357847 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619767 |
rs_1064793308 |
4 SubmittersRCV000482917RCV001255592RCV002402380RCV002526519 |
|
NM_000059.4(BRCA2):c.7739A>G (p.Gln2580Arg)
|
SNV Germline |
Chr13:32357863 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619768 |
rs_1064795508 |
7 SubmittersRCV000480812RCV000573542RCV000637758RCV001535437RCV003230517RCV004003368 |
|
NM_000059.4(BRCA2):c.7771A>G (p.Asn2591Asp)
|
SNV Germline |
Chr13:32357895 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA16619770 |
rs_778060629 |
4 SubmittersRCV000562419RCV000486358RCV002526542RCV003463994 |
|
NM_000059.4(BRCA2):c.7787G>A (p.Gly2596Glu)
|
SNV Germline |
Chr13:32357911 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619771 |
rs_1064795140 |
4 SubmittersRCV001045321RCV000485136RCV004023150 |
|
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile)
|
SNV Germline |
Chr13:32362591 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619772 |
rs_864622552 |
6 SubmittersRCV000487418RCV000802875RCV002413321RCV004002293 |
|
NM_000059.4(BRCA2):c.7938C>G (p.Cys2646Trp)
|
SNV Germline |
Chr13:32362655 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA16619773 |
rs_1064794927 |
5 SubmittersRCV001234204RCV000485719RCV001026975RCV004802069 |
|
NM_000059.4(BRCA2):c.7976+2C>G
|
SNV Germline |
Chr13:32362695 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA16619774 |
rs_886040943 |
7 SubmittersRCV000478296RCV000580796RCV001171448RCV001805095 |
|
NM_000059.4(BRCA2):c.8218T>G (p.Leu2740Val)
|
SNV Germline |
Chr13:32363420 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16619777 |
rs_1064793069 |
2 SubmittersRCV000481988RCV004023103 |
|
NM_000059.4(BRCA2):c.8305G>C (p.Glu2769Gln)
|
SNV Germline |
Chr13:32363507 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619778 |
rs_1064794185 |
4 SubmittersRCV000484683RCV000563964RCV001068956RCV004003313 |
|
NM_000059.4(BRCA2):c.8630A>G (p.Glu2877Gly)
|
SNV Germline |
Chr13:32371098 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619780 |
rs_1064794960 |
5 SubmittersRCV000486194RCV001193173RCV002376878RCV002525860RCV005600945 |
|
NM_000059.4(BRCA2):c.8708A>G (p.Glu2903Gly)
|
SNV Germline |
Chr13:32376745 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Familial cancer of breast BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16619782 |
rs_730881566 |
10 SubmittersRCV000479107RCV000698367RCV002509401RCV001177308RCV004568161RCV004802054RCV005248056 |
|
NM_000059.4(BRCA2):c.8755-1G>C
|
SNV Germline |
Chr13:32379316 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA16619783 |
rs_81002812 |
6 SubmittersRCV000576379RCV000510081RCV000485251RCV005010383RCV001865423 |
|
NM_000059.4(BRCA2):c.8844T>G (p.Ile2948Met)
|
SNV Germline |
Chr13:32379406 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast 8 conditions |
Criteria Provided Conflicting Classifications |
CA16619784 |
rs_1064793691 |
9 SubmittersRCV000580144RCV000485068RCV000801790RCV003234776RCV003607290RCV005010386 |
|
NM_000059.4(BRCA2):c.8954-13T>C
|
SNV Germline |
Chr13:32379737 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619786 |
rs_398122717 |
4 SubmittersRCV000480332RCV000775938RCV001584197RCV002056788 |
|
NM_000059.4(BRCA2):c.8963G>A (p.Ser2988Asn)
|
SNV Germline |
Chr13:32379759 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6941324 |
rs_778052683 |
5 SubmittersRCV000478758RCV000773156RCV001085361 |
|
NM_000059.4(BRCA2):c.9216G>A (p.Val3072=)
|
SNV Germline |
Chr13:32380105 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6941356 |
rs_773533016 |
3 SubmittersRCV000481965RCV001019009RCV000691331 |
|
NM_000059.4(BRCA2):c.9494C>G (p.Thr3165Ser)
|
SNV Germline |
Chr13:32394926 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16619791 |
rs_1064796569 |
3 SubmittersRCV000486040RCV000575840RCV002525942 |
|
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro)
|
SNV Germline |
Chr13:32398595 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA6941471 |
rs_751250810 |
10 SubmittersRCV000536779RCV000570247RCV001712440RCV001357415RCV003338602RCV001797731 |
|
NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp)
|
SNV Germline |
Chr13:32398644 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Malignant tumor of pancreas Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA16619803 |
rs_1064793835 |
10 SubmittersRCV000482184RCV000509753RCV000698028RCV000781053RCV000677841RCV000989095RCV001355076 |
|
NM_000059.4(BRCA2):c.2157T>A (p.Asn719Lys)
|
SNV Germline |
Chr13:32336512 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA16621907 |
rs_1064797382 |
3 SubmittersRCV000487726RCV001851296RCV003157592 |
|
NM_000059.4(BRCA2):c.293T>G (p.Leu98Ter)
|
SNV Germline |
Chr13:32319302 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA387754645 |
rs_1085308035 |
2 SubmittersRCV000490543 |
|
NM_000059.4(BRCA2):c.7876T>C (p.Trp2626Arg)
|
SNV Germline |
Chr13:32362593 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387747100 |
rs_1060502459 |
3 SubmittersRCV000704789RCV001026898RCV000493105 |
|
NM_000059.4(BRCA2):c.3322A>T (p.Lys1108Ter)
|
SNV Germline |
Chr13:32337677 |
Pathogenic |
Breast neoplasm Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA387776244 |
rs_1555283169 |
2 SubmittersRCV000504611RCV000661689 |
|
NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter)
|
SNV Germline |
Chr13:32332335 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast neoplasm |
Reviewed By Expert Panel |
CA387760554 |
rs_1131692035 |
6 SubmittersRCV001382893RCV003464065RCV000661899RCV002446965RCV000494717 |
|
NM_000059.4(BRCA2):c.1736T>G (p.Leu579Ter)
|
SNV Germline |
Chr13:32333214 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Pancreatic cancer, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA16021323 |
rs_1131692274 |
7 SubmittersRCV000637369RCV000581310RCV000496052RCV004719836RCV005355999 |
|
NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro)
|
SNV Germline |
Chr13:32338929 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940795 |
rs_397507336 |
10 SubmittersRCV001800713RCV000571305RCV002250642RCV001357073RCV004003493RCV000496676 |
|
NM_000059.4(BRCA2):c.6562A>G (p.Lys2188Glu)
|
SNV Germline |
Chr13:32340917 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789838 |
rs_1135401833 |
7 SubmittersRCV003157595RCV003155216RCV003483641RCV000496859 |
|
NM_000059.4(BRCA2):c.2T>A (p.Met1Lys)
|
SNV Germline |
Chr13:32316462 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387752876 |
rs_80358547 |
3 SubmittersRCV000496424RCV001268575 |
|
NM_000059.4(BRCA2):c.67+2T>G
|
SNV Germline |
Chr13:32316529 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387753128 |
rs_81002885 |
4 SubmittersRCV002367672RCV000496567RCV001591133 |
|
NM_000059.4(BRCA2):c.1658T>G (p.Leu553Ter)
|
SNV Germline |
Chr13:32333136 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA387765024 |
rs_876659627 |
5 SubmittersRCV001548117RCV001012587RCV000507637RCV000496621 |
|
NM_000059.4(BRCA2):c.2056C>T (p.Leu686Phe)
|
SNV Germline |
Chr13:32336411 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387768999 |
rs_1135401896 |
3 SubmittersRCV003157597RCV000496597 |
|
NM_000059.4(BRCA2):c.2198T>G (p.Val733Gly)
|
SNV Germline |
Chr13:32336553 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA387770493 |
rs_1135401897 |
4 SubmittersRCV000496459RCV003157598RCV003150242 |
|
NM_000059.4(BRCA2):c.4022C>A (p.Ser1341Ter)
|
SNV Germline |
Chr13:32338377 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA387779046 |
rs_1135401901 |
3 SubmittersRCV000496483RCV000661610 |
|
NM_000059.4(BRCA2):c.5087G>T (p.Gly1696Val)
|
SNV Germline |
Chr13:32339442 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
No Assertion Criteria Provided |
CA387784094 |
rs_1135401904 |
1 SubmittersRCV000496779 |
|
NM_000059.4(BRCA2):c.5609T>A (p.Phe1870Tyr)
|
SNV Germline |
Chr13:32339964 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786082 |
rs_1135401908 |
4 SubmittersRCV002350105RCV000496547RCV001856991 |
|
NM_000059.4(BRCA2):c.7792G>T (p.Glu2598Ter)
|
SNV Germline |
Chr13:32357916 |
Pathogenic |
Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA387746039 |
rs_1135401919 |
7 SubmittersRCV000657715RCV003476192RCV000496865RCV000661829RCV000573230 |
|
NM_000059.4(BRCA2):c.7980T>A (p.Tyr2660Ter)
|
SNV Germline |
Chr13:32363182 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA387748495 |
rs_397507949 |
3 SubmittersRCV000661558RCV000496310 |
|
NM_000059.4(BRCA2):c.8245C>T (p.Gln2749Ter)
|
SNV Germline |
Chr13:32363447 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA387749914 |
rs_1135401925 |
4 SubmittersRCV000496216RCV000661758RCV004023322 |
|
NM_000059.4(BRCA2):c.8473G>A (p.Ala2825Thr)
|
SNV Germline |
Chr13:32370543 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387752624 |
rs_587782874 |
3 SubmittersRCV000496471RCV000776583 |
|
NM_000059.4(BRCA2):c.8954-2A>C
|
SNV Germline |
Chr13:32379748 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Malignant tumor of breast |
Criteria Provided Single Submitter |
CA387757351 |
rs_1135401928 |
3 SubmittersRCV000496263RCV001353886 |
|
NM_000059.4(BRCA2):c.1834G>A (p.Glu612Lys)
|
SNV Germline |
Chr13:32333312 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387766181 |
rs_1135401938 |
4 SubmittersRCV001524384RCV003645005RCV000496580 |
|
NM_000059.4(BRCA2):c.317-2A>G
|
SNV Germline |
Chr13:32325074 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387756456 |
rs_1477341630 |
2 SubmittersRCV000497962RCV005091059 |
|
NM_000059.4(BRCA2):c.8T>C (p.Ile3Thr)
|
SNV Germline |
Chr13:32316468 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Familial cancer of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387752900 |
rs_1555280096 |
5 SubmittersRCV000502615RCV003464072RCV001342409RCV002376913RCV003478066 |
|
NM_000059.4(BRCA2):c.1501A>G (p.Ile501Val)
|
SNV Germline |
Chr13:32332979 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764486 |
rs_1555281924 |
6 SubmittersRCV000503284RCV002508217RCV003157605RCV002524132 |
|
NM_000059.4(BRCA2):c.2033A>C (p.Asn678Thr)
|
SNV Germline |
Chr13:32336388 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387768887 |
rs_1555282412 |
6 SubmittersRCV000569537RCV001865589RCV003478067RCV004802102 |
|
NM_000059.4(BRCA2):c.2765T>G (p.Phe922Cys)
|
SNV Germline |
Chr13:32337120 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773672 |
rs_1555282838 |
3 SubmittersRCV000503258RCV000583017 |
|
NM_000059.4(BRCA2):c.2875G>A (p.Val959Ile)
|
SNV Germline |
Chr13:32337230 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387774046 |
rs_1555282921 |
6 SubmittersRCV000582365RCV000503350RCV001857061RCV004802105 |
|
NM_000059.4(BRCA2):c.3318C>G (p.Ser1106Arg)
|
SNV Germline |
Chr13:32337673 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387776227 |
rs_1298550035 |
7 SubmittersRCV000500392RCV000580879RCV001045201RCV002465693 |
|
NM_000059.4(BRCA2):c.3328G>T (p.Glu1110Ter)
|
SNV Germline |
Chr13:32337683 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA387776265 |
rs_1555283173 |
2 SubmittersRCV000661412RCV000502627 |
|
NM_000059.4(BRCA2):c.4037C>A (p.Thr1346Asn)
|
SNV Germline |
Chr13:32338392 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387779081 |
rs_1555283519 |
5 SubmittersRCV000500883RCV000637490RCV002256321RCV004760535 |
|
NM_000059.4(BRCA2):c.4624G>A (p.Val1542Met)
|
SNV Germline |
Chr13:32338979 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247508167 |
rs_28897729 |
8 SubmittersRCV000500406RCV000538825RCV000573422RCV001353720RCV003478069 |
|
NM_000059.4(BRCA2):c.4918C>T (p.His1640Tyr)
|
SNV Germline |
Chr13:32339273 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940826 |
rs_765892492 |
5 SubmittersRCV000503156RCV000772752RCV003645008 |
|
NM_000059.4(BRCA2):c.5033A>C (p.Lys1678Thr)
|
SNV Germline |
Chr13:32339388 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA247508914 |
rs_28897733 |
5 SubmittersRCV000564353RCV000548988RCV000501473 |
|
NM_000059.4(BRCA2):c.5261A>G (p.Asp1754Gly)
|
SNV Germline |
Chr13:32339616 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6940861 |
rs_772772727 |
6 SubmittersRCV000499471RCV000510048RCV000637713RCV005431710 |
|
NM_000059.4(BRCA2):c.5347A>G (p.Lys1783Glu)
|
SNV Germline |
Chr13:32339702 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785018 |
rs_1555284184 |
5 SubmittersRCV000500557RCV000541889RCV000985543RCV002350115 |
|
NM_000059.4(BRCA2):c.5449T>C (p.Ser1817Pro)
|
SNV Germline |
Chr13:32339804 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387785586 |
rs_876658566 |
2 SubmittersRCV003158933RCV003237571 |
|
NM_000059.4(BRCA2):c.5748T>G (p.His1916Gln)
|
SNV Germline |
Chr13:32340103 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787001 |
rs_1555284387 |
3 SubmittersRCV000503603RCV000569435 |
|
NM_000059.4(BRCA2):c.5947G>A (p.Gly1983Arg)
|
SNV Germline |
Chr13:32340302 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787581 |
rs_1555284478 |
3 SubmittersRCV000503696RCV000794061RCV003157609 |
|
NM_000059.4(BRCA2):c.6083A>G (p.Glu2028Gly)
|
SNV Germline |
Chr13:32340438 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788024 |
rs_1555284531 |
4 SubmittersRCV000504546RCV000565096RCV001851396 |
|
NM_000059.4(BRCA2):c.6315A>G (p.Ile2105Met)
|
SNV Germline |
Chr13:32340670 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940944 |
rs_398122552 |
7 SubmittersRCV000637801RCV000771444RCV000780023RCV002476000RCV004003517 |
|
NM_000059.4(BRCA2):c.6496G>C (p.Val2166Leu)
|
SNV Germline |
Chr13:32340851 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789529 |
rs_750084851 |
5 SubmittersRCV000499853RCV000687551RCV000776708 |
|
NM_000059.4(BRCA2):c.6530T>A (p.Ile2177Asn)
|
SNV Germline |
Chr13:32340885 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789661 |
rs_1060502462 |
2 SubmittersRCV003158944RCV002222212 |
|
NM_000059.4(BRCA2):c.6599T>C (p.Phe2200Ser)
|
SNV Germline |
Chr13:32340954 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387790079 |
rs_1372423132 |
5 SubmittersRCV000563833RCV000502259RCV000557523RCV004003518 |
|
NM_000059.4(BRCA2):c.8331+5A>G
|
SNV Germline |
Chr13:32363538 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA645372933 |
rs_1555287099 |
2 SubmittersRCV000501804RCV000775855 |
|
NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys)
|
SNV Germline |
Chr13:32371082 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752940 |
rs_1555287788 |
7 SubmittersRCV000504275RCV000564672RCV001824812RCV003150245RCV003766811 |
|
NM_000059.4(BRCA2):c.9118-1G>C
|
SNV Germline |
Chr13:32380006 |
Pathogenic |
Malignant tumor of breast Breast carcinoma |
No Assertion Criteria Provided |
CA10654944 |
rs_886040950 |
2 SubmittersRCV000502907RCV001579301 |
|
NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe)
|
SNV Germline |
Chr13:32394805 |
Likely pathogenic |
Malignant tumor of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387761221 |
rs_1555289566 |
2 SubmittersRCV000503106RCV003278848 |
|
NM_000059.4(BRCA2):c.-188C>T
|
SNV Germline |
Chr13:32315519 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247478059 |
rs_556172218 |
3 SubmittersRCV000500828RCV001510598RCV002256322 |
|
NM_000059.4(BRCA2):c.1295A>C (p.Glu432Ala)
|
SNV Germline |
Chr13:32332773 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387762501 |
rs_1161226532 |
6 SubmittersRCV000499441RCV000758861RCV002383964RCV004003525 |
|
NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)
|
SNV Germline |
Chr13:32340778 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940952 |
rs_780721021 |
5 SubmittersRCV000502553RCV000812649RCV000985565RCV002367683 |
|
NM_000059.4(BRCA2):c.6734T>A (p.Leu2245Gln)
|
SNV Germline |
Chr13:32341089 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940979 |
rs_772795886 |
11 SubmittersRCV000504316RCV000509998RCV000798113RCV001591137RCV004003524 |
|
NM_000059.4(BRCA2):c.6937+565T>C
|
SNV Germline |
Chr13:32345218 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247518009 |
rs_11571675 |
4 SubmittersRCV000500383RCV000989056RCV003736794 |
|
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys)
|
SNV Germline |
Chr13:32362574 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA387747060 |
rs_80359011 |
7 SubmittersRCV000664330RCV000692296RCV000574330RCV005356026 |
|
NM_000059.4(BRCA2):c.1075G>A (p.Glu359Lys)
|
SNV Germline/somatic |
Chr13:32332553 |
Conflicting classifications of pathogenicity |
Neuroblastoma Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761412 |
rs_1555281730 |
3 SubmittersRCV000505644RCV000776715 |
|
NM_000059.4(BRCA2):c.-40+7G>T
|
SNV Germline |
Chr13:32315674 |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group D1 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA645509353 |
rs_1555279969 |
4 SubmittersRCV001113448RCV000581674RCV001113449RCV000868731RCV004999552 |
|
NM_000059.4(BRCA2):c.-39-2A>G
|
SNV Germline |
Chr13:32316420 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA645509354 |
rs_1555280053 |
7 SubmittersRCV000687385RCV000507187RCV000624975RCV003372734RCV003464087 |
|
NM_000059.4(BRCA2):c.63A>G (p.Lys21=)
|
SNV Germline |
Chr13:32316523 |
Conflicting classifications of pathogenicity |
Breast neoplasm not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA483272670 |
rs_1280004443 |
7 SubmittersRCV000677832RCV000506652RCV001190707RCV001449216RCV004802109 |
|
NM_000059.4(BRCA2):c.475G>C (p.Val159Leu)
|
SNV Germline |
Chr13:32326150 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757259 |
rs_80358702 |
3 SubmittersRCV003530059RCV000507908RCV005306048 |
|
NM_000059.4(BRCA2):c.901G>A (p.Asp301Asn)
|
SNV Germline |
Chr13:32332379 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387760679 |
rs_1555281626 |
7 SubmittersRCV000508473RCV000691294RCV002376934RCV004732911 |
|
NM_000059.4(BRCA2):c.1034A>G (p.Lys345Arg)
|
SNV Germline |
Chr13:32332512 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761186 |
rs_1555281704 |
3 SubmittersRCV000508268RCV000567450 |
|
NM_000059.4(BRCA2):c.1136G>A (p.Gly379Glu)
|
SNV Germline |
Chr13:32332614 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940491 |
rs_757086356 |
2 SubmittersRCV000507790RCV003157616 |
|
NM_000059.4(BRCA2):c.1317T>G (p.Phe439Leu)
|
SNV Germline |
Chr13:32332795 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762641 |
rs_1555281834 |
4 SubmittersRCV000506210RCV001298558RCV003157617 |
|
NM_000059.4(BRCA2):c.1368G>C (p.Glu456Asp)
|
SNV Germline |
Chr13:32332846 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387762904 |
rs_747489126 |
6 SubmittersRCV000508440RCV001343802RCV002383977RCV003493611 |
|
NM_000059.4(BRCA2):c.1616G>T (p.Gly539Val)
|
SNV Germline |
Chr13:32333094 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764890 |
rs_1555281985 |
3 SubmittersRCV003157618RCV000506682RCV003645010 |
|
NM_000059.4(BRCA2):c.1879G>A (p.Ala627Thr)
|
SNV Germline |
Chr13:32333357 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387766644 |
rs_1555282140 |
3 SubmittersRCV000507341RCV003157619RCV005356027 |
|
NM_000059.4(BRCA2):c.2012C>A (p.Ser671Tyr)
|
SNV Germline |
Chr13:32336367 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768773 |
rs_1555282398 |
2 SubmittersRCV000506859RCV003157620 |
|
NM_000059.4(BRCA2):c.2382G>T (p.Met794Ile)
|
SNV Germline |
Chr13:32336737 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771857 |
rs_1555282646 |
2 SubmittersRCV004999551RCV003157621 |
|
NM_000059.4(BRCA2):c.2749G>A (p.Val917Ile)
|
SNV Germline |
Chr13:32337104 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773636 |
rs_1555282822 |
7 SubmittersRCV000816970RCV000508368RCV004802107RCV004722846RCV002438230 |
|
NM_000059.4(BRCA2):c.2777C>T (p.Thr926Ile)
|
SNV Germline |
Chr13:32337132 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387773698 |
rs_1555282841 |
2 SubmittersRCV003157622RCV000507837 |
|
NM_000059.4(BRCA2):c.2791G>A (p.Gly931Arg)
|
SNV Germline |
Chr13:32337146 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome BRCA2-related disorder Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773728 |
rs_1555282848 |
6 SubmittersRCV000505999RCV001016616RCV004535631RCV000637737 |
|
NM_000059.4(BRCA2):c.2860G>A (p.Glu954Lys)
|
SNV Germline |
Chr13:32337215 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773971 |
rs_1555282911 |
3 SubmittersRCV003645011RCV000507990RCV003157623 |
|
NM_000059.4(BRCA2):c.2860G>T (p.Glu954Ter)
|
SNV Germline |
Chr13:32337215 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Reviewed By Expert Panel |
CA387773975 |
rs_1555282911 |
2 SubmittersRCV000661795RCV000506550 |
|
NM_000059.4(BRCA2):c.2907A>G (p.Gln969=)
|
SNV Germline |
Chr13:32337262 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483437187 |
rs_1555282935 |
3 SubmittersRCV000507133RCV002056898RCV004023416 |
|
NM_000059.4(BRCA2):c.2942A>C (p.Lys981Thr)
|
SNV Germline |
Chr13:32337297 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774324 |
rs_398122757 |
3 SubmittersRCV000507487RCV001857247RCV003157624 |
|
NM_000059.4(BRCA2):c.3008A>G (p.His1003Arg)
|
SNV Germline |
Chr13:32337363 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774719 |
rs_1555283008 |
4 SubmittersRCV000572549RCV000506689RCV003645012 |
|
NM_000059.4(BRCA2):c.3016G>A (p.Gly1006Arg)
|
SNV Germline |
Chr13:32337371 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774800 |
rs_886038083 |
3 SubmittersRCV000507608RCV003157625RCV003530058 |
|
NM_000059.4(BRCA2):c.3376G>T (p.Glu1126Ter)
|
SNV Germline |
Chr13:32337731 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA387776416 |
rs_1555283206 |
3 SubmittersRCV000506898RCV000661670RCV004948372 |
|
NM_000059.4(BRCA2):c.3655T>G (p.Phe1219Val)
|
SNV Germline |
Chr13:32338010 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940713 |
rs_80358610 |
7 SubmittersRCV000506626RCV000702274RCV000581561RCV004802108 |
|
NM_000059.4(BRCA2):c.3776G>A (p.Ser1259Asn)
|
SNV Germline |
Chr13:32338131 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940725 |
rs_762488820 |
5 SubmittersRCV000700054RCV001021108RCV000758886RCV004003538 |
|
NM_000059.4(BRCA2):c.3826G>A (p.Glu1276Lys)
|
SNV Germline |
Chr13:32338181 |
Conflicting classifications of pathogenicity |
not specified BRCA2-related disorder Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778506 |
rs_878853575 |
8 SubmittersRCV000506737RCV004535632RCV000563847RCV000546808 |
|
NM_000059.4(BRCA2):c.4138A>G (p.Ile1380Val)
|
SNV Germline |
Chr13:32338493 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779402 |
rs_1555283594 |
2 SubmittersRCV000506805RCV003157626 |
|
NM_000059.4(BRCA2):c.4493G>A (p.Gly1498Asp)
|
SNV Germline |
Chr13:32338848 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781553 |
rs_1555283809 |
3 SubmittersRCV003157627RCV000506282RCV001217330 |
|
NM_000059.4(BRCA2):c.4985C>T (p.Ser1662Leu)
|
SNV Germline |
Chr13:32339340 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783879 |
rs_886040559 |
5 SubmittersRCV000506708RCV000581612RCV001857249 |
|
NM_000059.4(BRCA2):c.5073A>T (p.Lys1691Asn)
|
SNV Germline |
Chr13:32339428 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940845 |
rs_760482209 |
2 SubmittersRCV000507166RCV003157628 |
|
NM_000059.4(BRCA2):c.5189A>G (p.Asn1730Ser)
|
SNV Germline |
Chr13:32339544 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940853 |
rs_766080044 |
4 SubmittersRCV000508199RCV000554468RCV001188185 |
|
NM_000059.4(BRCA2):c.5299A>G (p.Lys1767Glu)
|
SNV Germline |
Chr13:32339654 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387784818 |
rs_1555284159 |
3 SubmittersRCV001023882RCV000507489 |
|
NM_000059.4(BRCA2):c.5625G>T (p.Lys1875Asn)
|
SNV Germline |
Chr13:32339980 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387786114 |
rs_1316343192 |
8 SubmittersRCV000776720RCV000507214RCV000550120RCV001264547 |
|
NM_000059.4(BRCA2):c.5970T>C (p.Asp1990=)
|
SNV Germline |
Chr13:32340325 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA483438945 |
rs_1064794160 |
4 SubmittersRCV000927820RCV004003539RCV000566634RCV000506246 |
|
NM_000059.4(BRCA2):c.6060A>G (p.Glu2020=)
|
SNV Germline |
Chr13:32340415 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483439043 |
rs_1555284516 |
3 SubmittersRCV000506349RCV001447306RCV003478074 |
|
NM_000059.4(BRCA2):c.6151A>G (p.Asn2051Asp)
|
SNV Germline |
Chr13:32340506 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788283 |
rs_1555284569 |
4 SubmittersRCV003157629RCV000508232RCV000637423 |
|
NM_000059.4(BRCA2):c.6222C>G (p.His2074Gln)
|
SNV Germline |
Chr13:32340577 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788874 |
rs_1555284601 |
6 SubmittersRCV000506922RCV001025025RCV000543074 |
|
NM_000059.4(BRCA2):c.6832A>G (p.Ile2278Val)
|
SNV Germline |
Chr13:32341187 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940990 |
rs_772645059 |
6 SubmittersRCV001025708RCV000508359RCV001347217RCV005356028 |
|
NM_000059.4(BRCA2):c.7047T>C (p.Phe2349=)
|
SNV Germline |
Chr13:32354900 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483439344 |
rs_1555285985 |
3 SubmittersRCV000508119RCV002060164RCV004601189 |
|
NM_000059.4(BRCA2):c.7894G>A (p.Ala2632Thr)
|
SNV Germline |
Chr13:32362611 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387747133 |
rs_1555286844 |
4 SubmittersRCV001857250RCV004609413RCV005010450RCV005000048 |
|
NM_000059.4(BRCA2):c.7935A>G (p.Arg2645=)
|
SNV Germline |
Chr13:32362652 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483260997 |
rs_1283509388 |
3 SubmittersRCV000821252RCV000563247RCV005000049 |
|
NM_000059.4(BRCA2):c.7977-2A>G
|
SNV Germline |
Chr13:32363177 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387748410 |
rs_276174899 |
4 SubmittersRCV000507983RCV003464088RCV002527340 |
|
NM_000059.4(BRCA2):c.8050A>G (p.Lys2684Glu)
|
SNV Germline |
Chr13:32363252 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Infiltrating duct carcinoma of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387749060 |
rs_1289414853 |
5 SubmittersRCV000564690RCV000677840RCV001371534RCV004568648RCV005000050 |
|
NM_000059.4(BRCA2):c.8764A>C (p.Ser2922Arg)
|
SNV Germline |
Chr13:32379326 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387755760 |
rs_80359132 |
2 SubmittersRCV004948373RCV005000051 |
|
NM_000059.4(BRCA2):c.9256+2T>C
|
SNV Germline |
Chr13:32380147 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387758745 |
rs_1555288591 |
4 SubmittersRCV000507805RCV000584001RCV000637499 |
|
NM_000059.4(BRCA2):c.9354G>A (p.Met3118Ile)
|
SNV Germline |
Chr13:32394786 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387761125 |
rs_1555289559 |
5 SubmittersRCV000799670RCV003314602RCV004609414RCV004800435 |
|
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro)
|
SNV Germline |
Chr13:32394796 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761167 |
rs_587782313 |
4 SubmittersRCV000507354RCV000581025RCV001865647 |
|
NM_000059.4(BRCA2):c.9501+8T>C
|
SNV Germline |
Chr13:32394941 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA645509343 |
rs_1555289625 |
2 SubmittersRCV000506319RCV003645013 |
|
NM_000059.4(BRCA2):c.1381G>T (p.Glu461Ter)
|
SNV Germline |
Chr13:32332859 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA387762984 |
rs_587782159 |
2 SubmittersRCV000506635RCV000661624 |
|
NM_000059.4(BRCA2):c.277T>C (p.Ser93Pro)
|
SNV Germline |
Chr13:32319286 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940336 |
rs_776730435 |
3 SubmittersRCV000509719RCV001061330 |
|
NM_000059.4(BRCA2):c.516G>T (p.Lys172Asn)
|
SNV Germline |
Chr13:32326282 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387757750 |
rs_80359790 |
1 SubmittersRCV000509903 |
|
NM_000059.4(BRCA2):c.764A>G (p.Asn255Ser)
|
SNV Germline |
Chr13:32331001 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760145 |
rs_1555281475 |
5 SubmittersRCV000509829RCV004802117RCV001755757RCV001349278 |
|
NM_000059.4(BRCA2):c.862C>T (p.Pro288Ser)
|
SNV Germline |
Chr13:32332340 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760575 |
rs_1464889530 |
4 SubmittersRCV000509810RCV001857313 |
|
NM_000059.4(BRCA2):c.883G>T (p.Val295Leu)
|
SNV Germline |
Chr13:32332361 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387760645 |
rs_1254525537 |
3 SubmittersRCV000509721RCV004003584 |
|
NM_000059.4(BRCA2):c.986G>C (p.Arg329Thr)
|
SNV Germline |
Chr13:32332464 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760972 |
rs_1555281666 |
3 SubmittersRCV000509620RCV003645021 |
|
NM_000059.4(BRCA2):c.1012G>T (p.Ala338Ser)
|
SNV Germline |
Chr13:32332490 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761095 |
rs_80358396 |
3 SubmittersRCV000510077RCV002524954 |
|
NM_000059.4(BRCA2):c.1179T>A (p.Cys393Ter)
|
SNV Germline |
Chr13:32332657 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA387761977 |
rs_786201237 |
3 SubmittersRCV000661588RCV000587625RCV000509613 |
|
NM_000059.4(BRCA2):c.1219C>G (p.Gln407Glu)
|
SNV Germline |
Chr13:32332697 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940499 |
rs_781079248 |
7 SubmittersRCV000781104RCV000510003RCV001857301RCV001355771RCV004802113 |
|
NM_000059.4(BRCA2):c.1267A>G (p.Ile423Val)
|
SNV Germline |
Chr13:32332745 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA387762358 |
rs_1555281802 |
4 SubmittersRCV000509782RCV001857310RCV003150250 |
|
NM_000059.4(BRCA2):c.1292C>A (p.Thr431Lys)
|
SNV Germline |
Chr13:32332770 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762486 |
rs_876660828 |
3 SubmittersRCV000510006RCV002524950 |
|
NM_000059.4(BRCA2):c.1339C>T (p.Pro447Ser)
|
SNV Germline |
Chr13:32332817 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762726 |
rs_1555281846 |
3 SubmittersRCV000509862RCV001235508 |
|
NM_000059.4(BRCA2):c.1480G>A (p.Val494Met)
|
SNV Germline |
Chr13:32332958 |
Conflicting classifications of pathogenicity |
Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387764420 |
rs_1555281919 |
5 SubmittersRCV000770712RCV001323480RCV000509708RCV004525952 |
|
NM_000059.4(BRCA2):c.1532C>A (p.Ser511Ter)
|
SNV Germline |
Chr13:32333010 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA387764598 |
rs_1555281935 |
3 SubmittersRCV000661702RCV000510105 |
|
NM_000059.4(BRCA2):c.1652A>G (p.Asp551Gly)
|
SNV Germline |
Chr13:32333130 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387765005 |
rs_1555282001 |
7 SubmittersRCV000509898RCV001865677RCV000759579RCV004802121 |
|
NM_000059.4(BRCA2):c.1733G>T (p.Gly578Val)
|
SNV Germline |
Chr13:32333211 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387765404 |
rs_398122730 |
3 SubmittersRCV000509702RCV001857309 |
|
NM_000059.4(BRCA2):c.1819A>C (p.Lys607Gln)
|
SNV Germline |
Chr13:32333297 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766058 |
rs_80358471 |
2 SubmittersRCV000509940 |
|
NM_000059.4(BRCA2):c.2125C>A (p.Leu709Met)
|
SNV Germline |
Chr13:32336480 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770053 |
rs_80358489 |
3 SubmittersRCV001208233RCV000509608 |
|
NM_000059.4(BRCA2):c.2161C>T (p.Pro721Ser)
|
SNV Germline |
Chr13:32336516 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247501511 |
rs_867089743 |
4 SubmittersRCV000509668RCV005091159 |
|
NM_000059.4(BRCA2):c.2376C>G (p.Tyr792Ter)
|
SNV Germline |
Chr13:32336731 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA387771812 |
rs_80358503 |
8 SubmittersRCV001269754RCV000509665RCV000661730 |
|
NM_000059.4(BRCA2):c.2418T>A (p.Asp806Glu)
|
SNV Germline |
Chr13:32336773 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772078 |
rs_1131692107 |
3 SubmittersRCV000510100RCV003645017 |
|
NM_000059.4(BRCA2):c.2443A>C (p.Met815Leu)
|
SNV Germline |
Chr13:32336798 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772232 |
rs_786203814 |
2 SubmittersRCV000509984 |
|
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr)
|
SNV Germline |
Chr13:32336799 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA387772239 |
rs_1303254121 |
12 SubmittersRCV001355590RCV000509649RCV000637404RCV000589134RCV001821426RCV002250647RCV004003567RCV005004203 |
|
NM_000059.4(BRCA2):c.2527G>T (p.Ala843Ser)
|
SNV Germline |
Chr13:32336882 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772479 |
rs_1555282730 |
2 SubmittersRCV000510123 |
|
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)
|
SNV Germline |
Chr13:32336936 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Gastric cancer Condition: not provided |
Reviewed By Expert Panel |
CA387772589 |
rs_773356478 |
9 SubmittersRCV000661552RCV000588708RCV000509677RCV003159650RCV005000060 |
|
NM_000059.4(BRCA2):c.2597A>T (p.Glu866Val)
|
SNV Germline |
Chr13:32336952 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772624 |
rs_1555282752 |
4 SubmittersRCV003645020RCV000510004 |
|
NM_000059.4(BRCA2):c.2666A>G (p.Asn889Ser)
|
SNV Germline |
Chr13:32337021 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387773363 |
rs_1555282782 |
7 SubmittersRCV000509614RCV000637362RCV004003579RCV005000065 |
|
NM_000059.4(BRCA2):c.2744C>T (p.Thr915Ile)
|
SNV Germline |
Chr13:32337099 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387773628 |
rs_786202795 |
6 SubmittersRCV001284081RCV000509602RCV000637429RCV004003574 |
|
NM_000059.4(BRCA2):c.2755G>C (p.Glu919Gln)
|
SNV Germline |
Chr13:32337110 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773650 |
rs_431825298 |
3 SubmittersRCV001065203RCV000510037 |
|
NM_000059.4(BRCA2):c.3127G>T (p.Ala1043Ser)
|
SNV Germline |
Chr13:32337482 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775720 |
rs_1455903281 |
3 SubmittersRCV000509843RCV005091162 |
|
NM_000059.4(BRCA2):c.3146A>T (p.Asn1049Ile)
|
SNV Germline |
Chr13:32337501 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775759 |
rs_1555283064 |
3 SubmittersRCV000510092RCV001857305 |
|
NM_000059.4(BRCA2):c.3241T>C (p.Cys1081Arg)
|
SNV Germline |
Chr13:32337596 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775943 |
rs_1555283117 |
2 SubmittersRCV000509681 |
|
NM_000059.4(BRCA2):c.3286G>C (p.Asp1096His)
|
SNV Germline |
Chr13:32337641 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776112 |
rs_876660870 |
3 SubmittersRCV000509961RCV001302775 |
|
NM_000059.4(BRCA2):c.3361T>C (p.Ser1121Pro)
|
SNV Germline |
Chr13:32337716 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776383 |
rs_1555283195 |
2 SubmittersRCV000509852 |
|
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter)
|
SNV Germline |
Chr13:32337791 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA387776599 |
rs_1237049560 |
5 SubmittersRCV000780006RCV000509826RCV000661493 |
|
NM_000059.4(BRCA2):c.3464C>G (p.Thr1155Ser)
|
SNV Germline |
Chr13:32337819 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387776761 |
rs_1406283407 |
5 SubmittersRCV001043039RCV000509891RCV005000061 |
|
NM_000059.4(BRCA2):c.3489T>A (p.Asp1163Glu)
|
SNV Germline |
Chr13:32337844 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776904 |
rs_1555283263 |
3 SubmittersRCV000509700RCV001865671 |
|
NM_000059.4(BRCA2):c.3494A>T (p.His1165Leu)
|
SNV Germline |
Chr13:32337849 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776918 |
rs_587782201 |
2 SubmittersRCV000509760 |
|
NM_000059.4(BRCA2):c.3640G>A (p.Val1214Met)
|
SNV Germline |
Chr13:32337995 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA247505516 |
rs_1015087797 |
5 SubmittersRCV001255569RCV000510016RCV000637555RCV004802114 |
|
NM_000059.4(BRCA2):c.3769C>T (p.Pro1257Ser)
|
SNV Germline |
Chr13:32338124 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778254 |
rs_1060502438 |
2 SubmittersRCV000509907 |
|
NM_000059.4(BRCA2):c.4042T>C (p.Cys1348Arg)
|
SNV Germline |
Chr13:32338397 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779088 |
rs_199863034 |
2 SubmittersRCV000510035 |
|
NM_000059.4(BRCA2):c.4133C>T (p.Thr1378Ile)
|
SNV Germline |
Chr13:32338488 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779384 |
rs_945880747 |
4 SubmittersRCV003530061RCV000509798 |
|
NM_000059.4(BRCA2):c.4156G>T (p.Asp1386Tyr)
|
SNV Germline |
Chr13:32338511 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387780018 |
rs_1555283600 |
3 SubmittersRCV000509929RCV001218365 |
|
NM_000059.4(BRCA2):c.4307T>C (p.Ile1436Thr)
|
SNV Germline |
Chr13:32338662 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6940769 |
rs_746472081 |
5 SubmittersRCV000509985RCV000540953RCV003321639 |
|
NM_000059.4(BRCA2):c.4309A>T (p.Ser1437Cys)
|
SNV Germline |
Chr13:32338664 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780774 |
rs_1555283705 |
3 SubmittersRCV000985523RCV000510042 |
|
NM_000059.4(BRCA2):c.4379T>C (p.Phe1460Ser)
|
SNV Germline |
Chr13:32338734 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781046 |
rs_1555283758 |
2 SubmittersRCV000509752 |
|
NM_000059.4(BRCA2):c.4403C>G (p.Ser1468Cys)
|
SNV Germline |
Chr13:32338758 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387781148 |
rs_1555283769 |
5 SubmittersRCV000637582RCV000509908RCV001549721 |
|
NM_000059.4(BRCA2):c.4489G>C (p.Val1497Leu)
|
SNV Germline |
Chr13:32338844 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781539 |
rs_1271777808 |
2 SubmittersRCV000509634 |
|
NM_000059.4(BRCA2):c.4555C>G (p.Pro1519Ala)
|
SNV Germline |
Chr13:32338910 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781811 |
rs_1555283843 |
5 SubmittersRCV000985529RCV000510110RCV000817797 |
|
NM_000059.4(BRCA2):c.4593A>C (p.Lys1531Asn)
|
SNV Germline |
Chr13:32338948 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781943 |
rs_386833397 |
3 SubmittersRCV000792316RCV000509691 |
|
NM_000059.4(BRCA2):c.4810C>G (p.Leu1604Val)
|
SNV Germline |
Chr13:32339165 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783279 |
rs_773591333 |
2 SubmittersRCV000510102 |
|
NM_000059.4(BRCA2):c.4930G>C (p.Glu1644Gln)
|
SNV Germline |
Chr13:32339285 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783657 |
rs_1555283989 |
4 SubmittersRCV001062161RCV000509788 |
|
NM_000059.4(BRCA2):c.5017A>C (p.Thr1673Pro)
|
SNV Germline |
Chr13:32339372 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783956 |
rs_746274489 |
3 SubmittersRCV001299174RCV000509933 |
|
NM_000059.4(BRCA2):c.5200G>C (p.Glu1734Gln)
|
SNV Germline |
Chr13:32339555 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784590 |
rs_786202543 |
3 SubmittersRCV000509857 |
|
NM_000059.4(BRCA2):c.5361T>G (p.Phe1787Leu)
|
SNV Germline |
Chr13:32339716 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785108 |
rs_1555284194 |
2 SubmittersRCV000509709 |
|
NM_000059.4(BRCA2):c.5375C>A (p.Ser1792Tyr)
|
SNV Germline |
Chr13:32339730 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785166 |
rs_1555284200 |
3 SubmittersRCV000509849RCV002527392 |
|
NM_000059.4(BRCA2):c.5545G>A (p.Gly1849Ser)
|
SNV Germline |
Chr13:32339900 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785944 |
rs_1555284257 |
3 SubmittersRCV000510089RCV001857303 |
|
NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn)
|
SNV Germline |
Chr13:32339957 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387786063 |
rs_80358781 |
6 SubmittersRCV000692500RCV000509970RCV001113817RCV001113818 |
|
NM_000059.4(BRCA2):c.5605A>C (p.Ser1869Arg)
|
SNV Germline |
Chr13:32339960 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786070 |
rs_876659256 |
3 SubmittersRCV000509694RCV002524952 |
|
NM_000059.4(BRCA2):c.5610C>G (p.Phe1870Leu)
|
SNV Germline |
Chr13:32339965 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387786084 |
rs_1060504598 |
5 SubmittersRCV000510119RCV002222187RCV005600965 |
|
NM_000059.4(BRCA2):c.5671G>C (p.Ala1891Pro)
|
SNV Germline |
Chr13:32340026 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786203 |
rs_587782644 |
4 SubmittersRCV000509858RCV001857300 |
|
NM_000059.4(BRCA2):c.5708T>C (p.Ile1903Thr)
|
SNV Germline |
Chr13:32340063 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA247511407 |
rs_149474191 |
5 SubmittersRCV001342695RCV004760545RCV000509850RCV001194025 |
|
NM_000059.4(BRCA2):c.5789T>G (p.Leu1930Ter)
|
SNV Germline |
Chr13:32340144 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA387787169 |
rs_397507805 |
2 SubmittersRCV000661451RCV000509941 |
|
NM_000059.4(BRCA2):c.5861C>G (p.Thr1954Ser)
|
SNV Germline |
Chr13:32340216 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787421 |
rs_1060502413 |
2 SubmittersRCV000510074 |
|
NM_000059.4(BRCA2):c.6192G>C (p.Lys2064Asn)
|
SNV Germline |
Chr13:32340547 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387788817 |
rs_786202616 |
3 SubmittersRCV000509868RCV004535646 |
|
NM_000059.4(BRCA2):c.6210A>T (p.Glu2070Asp)
|
SNV Germline |
Chr13:32340565 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387788854 |
rs_1555284596 |
8 SubmittersRCV000509632RCV001192503RCV001294765RCV001755756RCV005356038 |
|
NM_000059.4(BRCA2):c.6463C>G (p.Leu2155Val)
|
SNV Germline |
Chr13:32340818 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387789372 |
rs_775035051 |
5 SubmittersRCV000510026RCV000701295RCV002274048 |
|
NM_000059.4(BRCA2):c.6476A>C (p.Gln2159Pro)
|
SNV Germline |
Chr13:32340831 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940959 |
rs_763486267 |
3 SubmittersRCV000510013RCV002304211 |
|
NM_000059.4(BRCA2):c.6486A>C (p.Lys2162Asn)
|
SNV Germline |
Chr13:32340841 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789468 |
rs_751023453 |
2 SubmittersRCV000510071 |
|
NM_000059.4(BRCA2):c.6514T>G (p.Ser2172Ala)
|
SNV Germline |
Chr13:32340869 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387789598 |
rs_1222261194 |
4 SubmittersRCV000509811RCV004003565 |
|
NM_000059.4(BRCA2):c.6586A>G (p.Lys2196Glu)
|
SNV Germline |
Chr13:32340941 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387789988 |
rs_398122561 |
5 SubmittersRCV000509744RCV001857312RCV003316661 |
|
NM_000059.4(BRCA2):c.6628G>C (p.Glu2210Gln)
|
SNV Germline |
Chr13:32340983 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790258 |
rs_1555284774 |
2 SubmittersRCV000509831 |
|
NM_000059.4(BRCA2):c.6752A>G (p.His2251Arg)
|
SNV Germline |
Chr13:32341107 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387791145 |
rs_1555284844 |
4 SubmittersRCV000510065RCV001857311RCV001775836 |
|
NM_000059.4(BRCA2):c.6805A>C (p.Ile2269Leu)
|
SNV Germline |
Chr13:32341160 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related disorder not specified |
Criteria Provided Conflicting Classifications |
CA387791364 |
rs_1300492434 |
4 SubmittersRCV000509801RCV004732915RCV000780032 |
|
NM_000059.4(BRCA2):c.7115C>A (p.Ser2372Ter)
|
SNV Germline |
Chr13:32354968 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Reviewed By Expert Panel |
CA387738655 |
rs_80358943 |
5 SubmittersRCV000661838RCV000509899RCV001865678RCV000657570 |
|
NM_000059.4(BRCA2):c.7141C>G (p.Pro2381Ala)
|
SNV Germline |
Chr13:32354994 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA6941062 |
rs_777305503 |
7 SubmittersRCV000510075RCV000588094RCV000704526RCV004568654 |
|
NM_000059.4(BRCA2):c.7318C>T (p.His2440Tyr)
|
SNV Germline |
Chr13:32355171 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387741076 |
rs_1555286077 |
2 SubmittersRCV000509651RCV000799628 |
|
NM_000059.4(BRCA2):c.7552C>G (p.Leu2518Val)
|
SNV Germline |
Chr13:32356544 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387743693 |
rs_1555286279 |
3 SubmittersRCV000509814RCV005356039RCV001857302 |
|
NM_000059.4(BRCA2):c.7600G>A (p.Ala2534Thr)
|
SNV Germline |
Chr13:32356592 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387743948 |
rs_1555286305 |
4 SubmittersRCV000509992RCV000546474RCV003478088RCV004535647 |
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
SNV Germline |
Chr13:32357817 |
Conflicting classifications of pathogenicity |
8 conditions Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6941133 |
rs_764761862 |
8 SubmittersRCV000765137RCV001217044RCV001284442RCV004802119RCV000509639RCV005600964 |
|
NM_000059.4(BRCA2):c.7765C>T (p.Pro2589Ser)
|
SNV Germline |
Chr13:32357889 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387745881 |
rs_753047043 |
6 SubmittersRCV000510040RCV000540925RCV003493614RCV004808742 |
|
NM_000059.4(BRCA2):c.7926T>G (p.Phe2642Leu)
|
SNV Germline |
Chr13:32362643 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387747199 |
rs_1555286858 |
3 SubmittersRCV000510022RCV001346282RCV000759663 |
|
NM_000059.4(BRCA2):c.8034G>C (p.Arg2678Ser)
|
SNV Germline |
Chr13:32363236 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387748965 |
rs_1204728357 |
2 SubmittersRCV000510093RCV001857308 |
|
NM_000059.4(BRCA2):c.8045C>T (p.Ala2682Val)
|
SNV Germline |
Chr13:32363247 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Malignant tumor of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6941183 |
rs_773506092 |
6 SubmittersRCV000510079RCV003464098RCV001857307RCV001357767RCV002476021 |
|
NM_000059.4(BRCA2):c.8206C>T (p.Leu2736Phe)
|
SNV Germline |
Chr13:32363408 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749757 |
rs_1555287042 |
4 SubmittersRCV001171397RCV000510051RCV003476207RCV002524951 |
|
NM_000059.4(BRCA2):c.8230A>G (p.Arg2744Gly)
|
SNV Germline |
Chr13:32363432 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749854 |
rs_1555287055 |
3 SubmittersRCV000509860RCV004003573RCV000536936 |
|
NM_000059.4(BRCA2):c.8285C>G (p.Pro2762Arg)
|
SNV Germline |
Chr13:32363487 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387750102 |
rs_398122600 |
4 SubmittersRCV000509733RCV001171398RCV003530062 |
|
NM_000059.4(BRCA2):c.8392C>T (p.Pro2798Ser)
|
SNV Germline |
Chr13:32370462 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6941226 |
rs_750640009 |
2 SubmittersRCV003645018RCV000509718 |
|
NM_000059.4(BRCA2):c.8419T>C (p.Ser2807Pro)
|
SNV Germline |
Chr13:32370489 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387752524 |
rs_1555287637 |
5 SubmittersRCV000509655RCV000780035RCV001213290RCV004802120 |
|
NM_000059.4(BRCA2):c.8497A>T (p.Lys2833Ter)
|
SNV Germline |
Chr13:32370965 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Reviewed By Expert Panel |
CA387752678 |
rs_1555287732 |
3 SubmittersRCV000661553RCV000510031RCV001857304 |
|
NM_000059.4(BRCA2):c.8591C>G (p.Ala2864Gly)
|
SNV Germline |
Chr13:32371059 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387752861 |
rs_80359116 |
4 SubmittersRCV000509804RCV001069755RCV004802116 |
|
NM_000059.4(BRCA2):c.8707G>T (p.Glu2903Ter)
|
SNV Germline |
Chr13:32376744 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA387754889 |
rs_1555288166 |
3 SubmittersRCV000509737RCV000661711 |
|
NM_000059.4(BRCA2):c.8750T>C (p.Leu2917Pro)
|
SNV Germline |
Chr13:32376787 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387755087 |
rs_1555288178 |
3 SubmittersRCV000510060RCV002527391RCV003478087 |
|
NM_000059.4(BRCA2):c.8791A>G (p.Asn2931Asp)
|
SNV Germline |
Chr13:32379353 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA247493100 |
rs_895758995 |
4 SubmittersRCV000509838RCV000559269RCV005010458RCV005620953 |
|
NM_000059.4(BRCA2):c.9049A>G (p.Lys3017Glu)
|
SNV Germline |
Chr13:32379845 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387757536 |
rs_1555288473 |
7 SubmittersRCV000510001RCV000985617RCV001312989RCV001293618RCV003464099RCV004003572 |
|
NM_000059.4(BRCA2):c.9134T>C (p.Leu3045Ser)
|
SNV Germline |
Chr13:32380023 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387757830 |
rs_1205776232 |
4 SubmittersRCV000509882RCV001865675RCV001800726RCV004568655 |
|
NM_000059.4(BRCA2):c.9340A>T (p.Ile3114Phe)
|
SNV Germline |
Chr13:32394772 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761047 |
rs_1555289545 |
2 SubmittersRCV000509902 |
|
NM_000059.4(BRCA2):c.9394A>C (p.Lys3132Gln)
|
SNV Germline |
Chr13:32394826 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387761330 |
rs_1555289577 |
3 SubmittersRCV000509954RCV002524953RCV005000066 |
|
NM_000059.4(BRCA2):c.9443C>G (p.Ala3148Gly)
|
SNV Germline |
Chr13:32394875 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761599 |
rs_587781514 |
2 SubmittersRCV000510034RCV005091161 |
|
NM_000059.4(BRCA2):c.9998T>C (p.Leu3333Pro)
|
SNV Germline |
Chr13:32398511 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387767656 |
rs_1555290016 |
5 SubmittersRCV002527394RCV004003580RCV000509922RCV003464100 |
|
NM_000059.4(BRCA2):c.10238C>A (p.Thr3413Lys)
|
SNV Germline |
Chr13:32398751 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387768618 |
rs_730881584 |
5 SubmittersRCV000509846RCV000698928RCV003389648RCV005000067 |
|
NM_000059.4(BRCA2):c.3504G>T (p.Met1168Ile)
|
SNV Germline/somatic |
Chr13:32337859 |
Conflicting classifications of pathogenicity |
Neuroendocrine pancreatic tumor Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776965 |
rs_1555283267 |
4 SubmittersRCV004813108RCV001775837RCV002341202 |
|
NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter)
|
SNV Germline |
Chr13:32332918 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387764299 |
rs_1555281911 |
3 SubmittersRCV000522902RCV002469181 |
|
NM_000059.4(BRCA2):c.2099T>A (p.Leu700Ter)
|
SNV Germline |
Chr13:32336454 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Multiple Submitters No Conflicts |
CA387769896 |
rs_1555282449 |
6 SubmittersRCV000522630RCV001178335RCV001227638RCV004556803RCV005356052 |
|
NM_000059.4(BRCA2):c.4397T>G (p.Leu1466Ter)
|
SNV Germline |
Chr13:32338752 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387781122 |
rs_886040526 |
2 SubmittersRCV000519218RCV003493618 |
|
NM_000059.4(BRCA2):c.4760C>T (p.Ala1587Val)
|
SNV Germline |
Chr13:32339115 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783129 |
rs_1555283930 |
3 SubmittersRCV000520944RCV003157632 |
|
NM_000059.4(BRCA2):c.6298C>T (p.Gln2100Ter)
|
SNV Germline |
Chr13:32340653 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387789022 |
rs_746661607 |
2 SubmittersRCV000520432RCV005402937 |
|
NM_000059.4(BRCA2):c.6833T>G (p.Ile2278Ser)
|
SNV Germline |
Chr13:32341188 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387791489 |
rs_1555284865 |
6 SubmittersRCV000522420RCV000819360RCV001025709RCV004586755RCV004802123 |
|
NM_000059.4(BRCA2):c.9117+3A>G
|
SNV Germline |
Chr13:32379916 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA658656427 |
rs_1555288517 |
3 SubmittersRCV000520876RCV002376957 |
|
NM_000059.4(BRCA2):c.908C>A (p.Ser303Tyr)
|
SNV Germline |
Chr13:32332386 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760692 |
rs_867323565 |
2 SubmittersRCV000537427RCV003157678 |
|
NM_000059.4(BRCA2):c.949A>G (p.Thr317Ala)
|
SNV Germline |
Chr13:32332427 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387760842 |
rs_1555281645 |
6 SubmittersRCV000558233RCV001019406RCV005231038RCV005422042 |
|
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)
|
SNV Germline |
Chr13:32332697 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387762117 |
rs_781079248 |
5 SubmittersRCV000547485RCV000583844RCV001783044 |
|
NM_000059.4(BRCA2):c.2104A>G (p.Ile702Val)
|
SNV Germline |
Chr13:32336459 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940580 |
rs_774968533 |
5 SubmittersRCV000539846RCV000755869RCV003483660RCV003157642 |
|
NM_000059.4(BRCA2):c.2133C>G (p.Cys711Trp)
|
SNV Germline |
Chr13:32336488 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770092 |
rs_535547513 |
2 SubmittersRCV000554597RCV003157643 |
|
NM_000059.4(BRCA2):c.2677C>T (p.Gln893Ter)
|
SNV Germline |
Chr13:32337032 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387773409 |
rs_1555282790 |
4 SubmittersRCV000559928RCV001356785RCV004023890RCV004696935 |
|
NM_000059.4(BRCA2):c.2788T>G (p.Tyr930Asp)
|
SNV Germline |
Chr13:32337143 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773721 |
rs_1168540941 |
3 SubmittersRCV000539927RCV003157647 |
|
NM_000059.4(BRCA2):c.2805T>G (p.Asp935Glu)
|
SNV Germline |
Chr13:32337160 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773754 |
rs_749138071 |
2 SubmittersRCV000544316RCV003157649 |
|
NM_000059.4(BRCA2):c.2923A>T (p.Ile975Phe)
|
SNV Germline |
Chr13:32337278 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940641 |
rs_757213764 |
3 SubmittersRCV000538624RCV000574427 |
|
NM_000059.4(BRCA2):c.3101T>G (p.Ile1034Ser)
|
SNV Germline |
Chr13:32337456 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775331 |
rs_545974734 |
2 SubmittersRCV000544883RCV003157651 |
|
NM_000059.4(BRCA2):c.3126A>C (p.Leu1042Phe)
|
SNV Germline |
Chr13:32337481 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775716 |
rs_1408500302 |
2 SubmittersRCV000537862RCV003157652 |
|
NM_000059.4(BRCA2):c.3160G>C (p.Asp1054His)
|
SNV Germline |
Chr13:32337515 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775783 |
rs_1555283071 |
2 SubmittersRCV000536561RCV003157653 |
|
NM_000059.4(BRCA2):c.3599G>A (p.Cys1200Tyr)
|
SNV Germline |
Chr13:32337954 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777490 |
rs_1555283305 |
2 SubmittersRCV000532807RCV003157657 |
|
NM_000059.4(BRCA2):c.3797A>T (p.His1266Leu)
|
SNV Germline |
Chr13:32338152 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778400 |
rs_1555283399 |
2 SubmittersRCV000533420RCV003157659 |
|
NM_000059.4(BRCA2):c.3863A>G (p.Asn1288Ser)
|
SNV Germline |
Chr13:32338218 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940731 |
rs_80358630 |
6 SubmittersRCV000551285RCV003999057RCV001177150 |
|
NM_000059.4(BRCA2):c.4012G>A (p.Gly1338Ser)
|
SNV Germline |
Chr13:32338367 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779020 |
rs_1555283503 |
3 SubmittersRCV000545471RCV003157662 |
|
NM_000059.4(BRCA2):c.4133C>A (p.Thr1378Asn)
|
SNV Germline |
Chr13:32338488 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247506544 |
rs_945880747 |
3 SubmittersRCV000538971RCV000572970 |
|
NM_000059.4(BRCA2):c.4378T>G (p.Phe1460Val)
|
SNV Germline |
Chr13:32338733 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781034 |
rs_1555283754 |
4 SubmittersRCV000533478RCV000777191 |
|
NM_000059.4(BRCA2):c.4421A>G (p.Lys1474Arg)
|
SNV Germline |
Chr13:32338776 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940779 |
rs_780660669 |
2 SubmittersRCV000554117RCV003157666 |
|
NM_000059.4(BRCA2):c.4994A>G (p.Glu1665Gly)
|
SNV Germline |
Chr13:32339349 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940837 |
rs_777981245 |
6 SubmittersRCV000549907RCV000567060RCV003234779RCV001800750 |
|
NM_000059.4(BRCA2):c.5459G>A (p.Cys1820Tyr)
|
SNV Germline |
Chr13:32339814 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785630 |
rs_1555284235 |
4 SubmittersRCV000537912RCV003157672 |
|
NM_000059.4(BRCA2):c.5720C>T (p.Ser1907Phe)
|
SNV Germline |
Chr13:32340075 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786848 |
rs_1555284376 |
2 SubmittersRCV000529732RCV003157673 |
|
NM_000059.4(BRCA2):c.6281A>C (p.Tyr2094Ser)
|
SNV Germline |
Chr13:32340636 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387788993 |
rs_397507838 |
5 SubmittersRCV000546817RCV000574242RCV003999065 |
|
NM_000059.4(BRCA2):c.6310A>C (p.Lys2104Gln)
|
SNV Germline |
Chr13:32340665 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789045 |
rs_1555284629 |
3 SubmittersRCV000528876RCV002367822 |
|
NM_000059.4(BRCA2):c.6351T>G (p.Cys2117Trp)
|
SNV Germline |
Chr13:32340706 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789127 |
rs_876659368 |
3 SubmittersRCV000538226RCV002367823 |
|
NM_000059.4(BRCA2):c.6736C>T (p.Pro2246Ser)
|
SNV Germline |
Chr13:32341091 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791089 |
rs_1555284840 |
2 SubmittersRCV000552843RCV003157676 |
|
NM_000059.4(BRCA2):c.6884G>C (p.Arg2295Thr)
|
SNV Germline |
Chr13:32344600 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA387792776 |
rs_1555285151 |
6 SubmittersRCV000554176RCV000777234RCV003607300RCV003999066RCV005239165 |
|
NM_000059.4(BRCA2):c.7277T>C (p.Ile2426Thr)
|
SNV Germline |
Chr13:32355130 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387740652 |
rs_1555286064 |
3 SubmittersRCV000550828RCV000775959 |
|
NM_000059.4(BRCA2):c.7462A>G (p.Arg2488Gly)
|
SNV Germline |
Chr13:32356454 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6941102 |
rs_746057464 |
6 SubmittersRCV000529176RCV001026467RCV001591221RCV003483661 |
|
NM_000059.4(BRCA2):c.7595C>A (p.Pro2532His)
|
SNV Germline |
Chr13:32356587 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA247470136 |
rs_967458408 |
5 SubmittersRCV000538315RCV001026599RCV003999068RCV001255591RCV003476254 |
|
NM_000059.4(BRCA2):c.7823C>A (p.Pro2608Gln)
|
SNV Germline |
Chr13:32362540 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387746992 |
rs_1555286825 |
2 SubmittersRCV000546424RCV002413491 |
|
NM_000059.4(BRCA2):c.7976+5G>T
|
SNV Germline |
Chr13:32362698 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA658656488 |
rs_786201180 |
7 SubmittersRCV000537532RCV000582257RCV000985595RCV004760565 |
|
NM_000059.4(BRCA2):c.8293T>C (p.Cys2765Arg)
|
SNV Germline |
Chr13:32363495 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387750135 |
rs_768247528 |
4 SubmittersRCV000524906RCV000989070RCV004568789RCV002431581 |
|
NM_000059.4(BRCA2):c.8929T>C (p.Tyr2977His)
|
SNV Germline |
Chr13:32379491 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757299 |
rs_587776473 |
3 SubmittersRCV000550010RCV000771705 |
|
NM_000059.4(BRCA2):c.9094A>C (p.Lys3032Gln)
|
SNV Germline |
Chr13:32379890 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757660 |
rs_1555288501 |
3 SubmittersRCV000547788RCV001018828 |
|
NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu)
|
SNV Germline |
Chr13:32380044 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387757934 |
rs_80359171 |
2 SubmittersRCV000533436RCV002377049 |
|
NM_000059.4(BRCA2):c.9304G>A (p.Ala3102Thr)
|
SNV Germline |
Chr13:32394736 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA6941375 |
rs_747073940 |
5 SubmittersRCV000548354RCV000562297RCV005357576 |
|
NM_000059.4(BRCA2):c.10187G>A (p.Ser3396Asn)
|
SNV Germline |
Chr13:32398700 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387768335 |
rs_889208749 |
9 SubmittersRCV000527103RCV000563670RCV000612812RCV000985458RCV005367387RCV004802132 |
|
NM_000059.4(BRCA2):c.831T>C (p.Asn277=)
|
SNV Germline |
Chr13:32332309 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483274660 |
rs_28897705 |
3 SubmittersRCV000550881RCV000561272RCV004701624 |
|
NM_000059.4(BRCA2):c.950C>T (p.Thr317Ile)
|
SNV Germline |
Chr13:32332428 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760849 |
rs_1341473353 |
4 SubmittersRCV000535822RCV000758977RCV003157679 |
|
NM_000059.4(BRCA2):c.1537A>G (p.Lys513Glu)
|
SNV Germline |
Chr13:32333015 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387764611 |
rs_1555281938 |
5 SubmittersRCV000542434RCV000776771RCV003999054 |
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
SNV Germline |
Chr13:32333383 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387767364 |
rs_1555282154 |
6 SubmittersRCV000552197RCV001805161RCV002476132RCV004767349 |
|
NM_000059.4(BRCA2):c.2353A>G (p.Ile785Val)
|
SNV Germline |
Chr13:32336708 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA6940598 |
rs_747748537 |
8 SubmittersRCV000537492RCV000773187RCV001770424RCV005357574 |
|
NM_000059.4(BRCA2):c.2435A>C (p.Asn812Thr)
|
SNV Germline |
Chr13:32336790 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772190 |
rs_1555282665 |
2 SubmittersRCV000540692RCV003157644 |
|
NM_000059.4(BRCA2):c.2485A>G (p.Lys829Glu)
|
SNV Germline |
Chr13:32336840 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387772396 |
rs_1270048702 |
5 SubmittersRCV000524581RCV000774651RCV004561497 |
|
NM_000059.4(BRCA2):c.2711G>A (p.Gly904Glu)
|
SNV Germline |
Chr13:32337066 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773533 |
rs_1555282808 |
3 SubmittersRCV000526570RCV003157646 |
|
NM_000059.4(BRCA2):c.2759C>T (p.Pro920Leu)
|
SNV Germline |
Chr13:32337114 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773659 |
rs_1555282835 |
4 SubmittersRCV000556022RCV001016518 |
|
NM_000059.4(BRCA2):c.2792G>C (p.Gly931Ala)
|
SNV Germline |
Chr13:32337147 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773729 |
rs_587781685 |
2 SubmittersRCV000529554RCV003157648 |
|
NM_000059.4(BRCA2):c.2911T>A (p.Leu971Ile)
|
SNV Germline |
Chr13:32337266 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774190 |
rs_1555282936 |
3 SubmittersRCV000534263RCV002438339 |
|
NM_000059.4(BRCA2):c.3503T>C (p.Met1168Thr)
|
SNV Germline |
Chr13:32337858 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387776957 |
rs_80358598 |
7 SubmittersRCV000526728RCV000571371RCV002476133RCV003999055RCV003607299 |
|
NM_000059.4(BRCA2):c.3893T>G (p.Ile1298Ser)
|
SNV Germline |
Chr13:32338248 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778773 |
rs_80358633 |
4 SubmittersRCV000549778RCV000583599 |
|
NM_000059.4(BRCA2):c.3936T>G (p.Asn1312Lys)
|
SNV Germline |
Chr13:32338291 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778862 |
rs_876659198 |
2 SubmittersRCV000528227RCV003157660 |
|
NM_000059.4(BRCA2):c.4007T>C (p.Phe1336Ser)
|
SNV Germline |
Chr13:32338362 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940740 |
rs_757305371 |
6 SubmittersRCV000555839RCV000567778RCV001284420RCV003999058 |
|
NM_000059.4(BRCA2):c.4147G>T (p.Asp1383Tyr)
|
SNV Germline |
Chr13:32338502 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779981 |
rs_587782234 |
3 SubmittersRCV000532870RCV003157665 |
|
NM_000059.4(BRCA2):c.4156G>A (p.Asp1386Asn)
|
SNV Germline |
Chr13:32338511 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387780015 |
rs_1555283600 |
5 SubmittersRCV000553527RCV001021966RCV003317263 |
|
NM_000059.4(BRCA2):c.4211C>A (p.Ser1404Ter)
|
SNV Germline |
Chr13:32338566 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387780259 |
rs_41293489 |
1 SubmittersRCV000560709 |
|
NM_000059.4(BRCA2):c.4277C>T (p.Thr1426Ile)
|
SNV Germline |
Chr13:32338632 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA6940766 |
rs_748591104 |
10 SubmittersRCV000547653RCV000772746RCV000985521RCV001355495RCV002250653 |
|
NM_000059.4(BRCA2):c.4479A>C (p.Glu1493Asp)
|
SNV Germline |
Chr13:32338834 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781493 |
rs_1555283805 |
2 SubmittersRCV000535063RCV003157667 |
|
NM_000059.4(BRCA2):c.4508T>C (p.Leu1503Pro)
|
SNV Germline |
Chr13:32338863 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781611 |
rs_1555283814 |
3 SubmittersRCV000533731RCV003157668 |
|
NM_000059.4(BRCA2):c.4526A>G (p.Gln1509Arg)
|
SNV Germline |
Chr13:32338881 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940787 |
rs_764435740 |
5 SubmittersRCV000527013RCV001284567RCV002341297RCV003999060 |
|
NM_000059.4(BRCA2):c.4606A>G (p.Lys1536Glu)
|
SNV Germline |
Chr13:32338961 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781989 |
rs_1555283871 |
3 SubmittersRCV000525454RCV002341298 |
|
NM_000059.4(BRCA2):c.4736C>T (p.Ala1579Val)
|
SNV Germline |
Chr13:32339091 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA387783044 |
rs_1555283920 |
8 SubmittersRCV000545121RCV000562970RCV000758899RCV002469188 |
|
NM_000059.4(BRCA2):c.4831G>T (p.Val1611Leu)
|
SNV Germline |
Chr13:32339186 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783324 |
rs_1555283948 |
2 SubmittersRCV000540740RCV003157669 |
|
NM_000059.4(BRCA2):c.5149G>A (p.Glu1717Lys)
|
SNV Germline |
Chr13:32339504 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247509100 |
rs_893978143 |
2 SubmittersRCV000525891RCV003157670 |
|
NM_000059.4(BRCA2):c.5692G>T (p.Asp1898Tyr)
|
SNV Germline |
Chr13:32340047 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786672 |
rs_1476725701 |
3 SubmittersRCV000552807RCV000567107 |
|
NM_000059.4(BRCA2):c.5750C>G (p.Ser1917Ter)
|
SNV Germline |
Chr13:32340105 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387787011 |
rs_886040609 |
3 SubmittersRCV000548883RCV002350228 |
|
NM_000059.4(BRCA2):c.5786T>C (p.Ile1929Thr)
|
SNV Germline |
Chr13:32340141 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787159 |
rs_1555284396 |
3 SubmittersRCV000547354RCV003157674 |
|
NM_000059.4(BRCA2):c.8491A>G (p.Met2831Val)
|
SNV Germline |
Chr13:32370959 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6941252 |
rs_760663398 |
2 SubmittersRCV000527288RCV002448668 |
|
NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg)
|
SNV Germline |
Chr13:32376709 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Fanconi anemia complementation group D1 Prostate cancer BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387754747 |
rs_1401510742 |
4 SubmittersRCV000550387RCV000568136RCV001535782RCV005357575 |
|
NM_000059.4(BRCA2):c.8681A>G (p.Gln2894Arg)
|
SNV Germline |
Chr13:32376718 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754773 |
rs_1172224921 |
2 SubmittersRCV000528663RCV002377048 |
|
NM_000059.4(BRCA2):c.9334G>A (p.Asp3112Asn)
|
SNV Germline |
Chr13:32394766 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6941377 |
rs_759851035 |
4 SubmittersRCV000525864RCV000580977RCV001775857 |
|
NM_000059.4(BRCA2):c.9401G>C (p.Gly3134Ala)
|
SNV Germline |
Chr13:32394833 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387761371 |
rs_80359215 |
5 SubmittersRCV000544353RCV004568792RCV001180792RCV003234780 |
|
NM_000059.4(BRCA2):c.68-6A>T
|
SNV Germline |
Chr13:32319071 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA658656326 |
rs_1555280325 |
5 SubmittersRCV000555474RCV000583118RCV001848934RCV003150264 |
|
NM_000059.4(BRCA2):c.414T>A (p.Cys138Ter)
|
SNV Germline |
Chr13:32325173 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387756754 |
rs_1555280869 |
5 SubmittersRCV000538469RCV003139760RCV003302810RCV003234778RCV004017668 |
|
NM_000059.4(BRCA2):c.565G>T (p.Asp189Tyr)
|
SNV Germline |
Chr13:32326547 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387757943 |
rs_1555281067 |
6 SubmittersRCV000531616RCV000570419RCV001800752RCV002465702RCV005051793 |
|
NM_000059.4(BRCA2):c.976A>G (p.Ser326Gly)
|
SNV Germline |
Chr13:32332454 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760937 |
rs_1052441923 |
2 SubmittersRCV000544927RCV003157680 |
|
NM_000059.4(BRCA2):c.1160T>C (p.Val387Ala)
|
SNV Germline |
Chr13:32332638 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940494 |
rs_373945846 |
5 SubmittersRCV000530126RCV000771483RCV003441925 |
|
NM_000059.4(BRCA2):c.1229A>G (p.Lys410Arg)
|
SNV Germline |
Chr13:32332707 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762180 |
rs_1555281782 |
2 SubmittersRCV000551134RCV003157635 |
|
NM_000059.4(BRCA2):c.1402A>T (p.Arg468Ter)
|
SNV Germline |
Chr13:32332880 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387764159 |
rs_1555281894 |
1 SubmittersRCV000560122 |
|
NM_000059.4(BRCA2):c.1990G>T (p.Gly664Trp)
|
SNV Germline |
Chr13:32336345 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768650 |
rs_1346252146 |
3 SubmittersRCV000537108RCV003157641 |
|
NM_000059.4(BRCA2):c.2072C>T (p.Ala691Val)
|
SNV Germline |
Chr13:32336427 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247500536 |
rs_868546240 |
5 SubmittersRCV000550266RCV000574854RCV001550848 |
|
NM_000059.4(BRCA2):c.2285A>G (p.Asp762Gly)
|
SNV Germline |
Chr13:32336640 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771169 |
rs_1555282600 |
3 SubmittersRCV000529943RCV002448667 |
|
NM_000059.4(BRCA2):c.3200C>G (p.Thr1067Ser)
|
SNV Germline |
Chr13:32337555 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775863 |
rs_1555283092 |
3 SubmittersRCV000551092RCV003157654 |
|
NM_000059.4(BRCA2):c.3517A>G (p.Ile1173Val)
|
SNV Germline |
Chr13:32337872 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777031 |
rs_431825308 |
5 SubmittersRCV000540104RCV000759599RCV001178550 |
|
NM_000059.4(BRCA2):c.3752C>T (p.Thr1251Ile)
|
SNV Germline |
Chr13:32338107 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778191 |
rs_1555283384 |
2 SubmittersRCV000552237RCV003157658 |
|
NM_000059.4(BRCA2):c.4010A>T (p.Asp1337Val)
|
SNV Germline |
Chr13:32338365 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779017 |
rs_1555283501 |
2 SubmittersRCV000529722RCV003157661 |
|
NM_000059.4(BRCA2):c.4088A>G (p.Asn1363Ser)
|
SNV Germline |
Chr13:32338443 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387779211 |
rs_1165204072 |
6 SubmittersRCV000547329RCV000581950RCV003999059RCV004592567 |
|
NM_000059.4(BRCA2):c.4165T>G (p.Phe1389Val)
|
SNV Germline |
Chr13:32338520 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA16020672 |
rs_1409088355 |
9 SubmittersRCV000531813RCV000759615RCV000574569RCV001260350RCV003447540 |
|
NM_000059.4(BRCA2):c.4472T>C (p.Leu1491Pro)
|
SNV Germline |
Chr13:32338827 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781465 |
rs_1555283798 |
4 SubmittersRCV000545774RCV001805162RCV002330857 |
|
NM_000059.4(BRCA2):c.4584C>G (p.Ser1528Arg)
|
SNV Germline |
Chr13:32338939 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA6940797 |
rs_80359788 |
7 SubmittersRCV000537486RCV000565812RCV000662564RCV002307534 |
|
NM_000059.4(BRCA2):c.4601T>C (p.Ile1534Thr)
|
SNV Germline |
Chr13:32338956 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387781976 |
rs_1555283869 |
5 SubmittersRCV000550868RCV000581048RCV002476134 |
|
NM_000059.4(BRCA2):c.4802A>T (p.Asp1601Val)
|
SNV Germline |
Chr13:32339157 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783260 |
rs_80358704 |
3 SubmittersRCV000536692RCV001023081 |
|
NM_000059.4(BRCA2):c.5047C>T (p.Gln1683Ter)
|
SNV Germline |
Chr13:32339402 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387784014 |
rs_1555284044 |
5 SubmittersRCV000541691RCV000581690RCV003476253 |
|
NM_000059.4(BRCA2):c.851G>T (p.Gly284Val)
|
SNV Germline |
Chr13:32332329 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760534 |
rs_1064793865 |
2 SubmittersRCV000548029RCV003157677 |
|
NM_000059.4(BRCA2):c.5378A>T (p.Asn1793Ile)
|
SNV Germline |
Chr13:32339733 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785188 |
rs_80358759 |
2 SubmittersRCV000545544RCV003157671 |
|
NM_000059.4(BRCA2):c.978C>T (p.Ser326=)
|
SNV Germline |
Chr13:32332456 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483436433 |
rs_28897706 |
3 SubmittersRCV000559728RCV004023892RCV005000157 |
|
NM_000059.4(BRCA2):c.1190A>G (p.Gln397Arg)
|
SNV Germline |
Chr13:32332668 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762021 |
rs_1555281770 |
2 SubmittersRCV000558698RCV003157634 |
|
NM_000059.4(BRCA2):c.1285T>A (p.Leu429Ile)
|
SNV Germline |
Chr13:32332763 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762445 |
rs_1555281818 |
2 SubmittersRCV000533427RCV003157636 |
|
NM_000059.4(BRCA2):c.1391T>C (p.Val464Ala)
|
SNV Germline |
Chr13:32332869 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764116 |
rs_1372510250 |
2 SubmittersRCV000532504RCV003157637 |
|
NM_000059.4(BRCA2):c.6181G>A (p.Ala2061Thr)
|
SNV Germline |
Chr13:32340536 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387788393 |
rs_1555284585 |
6 SubmittersRCV000529110RCV000780011RCV001024975RCV004800451 |
|
NM_000059.4(BRCA2):c.1400A>G (p.Lys467Arg)
|
SNV Germline |
Chr13:32332878 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764150 |
rs_1555281893 |
4 SubmittersRCV000530420RCV003150263RCV003157638 |
|
NM_000059.4(BRCA2):c.1498G>C (p.Gly500Arg)
|
SNV Germline |
Chr13:32332976 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387764477 |
rs_1233016217 |
4 SubmittersRCV000549168RCV002395349RCV003225082 |
|
NM_000059.4(BRCA2):c.6232G>C (p.Gly2078Arg)
|
SNV Germline |
Chr13:32340587 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788895 |
rs_1555284605 |
3 SubmittersRCV000536621RCV000570040 |
|
NM_000059.4(BRCA2):c.6506C>A (p.Thr2169Asn)
|
SNV Germline |
Chr13:32340861 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789564 |
rs_1555284726 |
3 SubmittersRCV000559713RCV003157675 |
|
NM_000059.4(BRCA2):c.1504A>G (p.Lys502Glu)
|
SNV Germline |
Chr13:32332982 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764497 |
rs_276174809 |
3 SubmittersRCV000527560RCV003157639 |
|
NM_000059.4(BRCA2):c.1547T>C (p.Phe516Ser)
|
SNV Germline |
Chr13:32333025 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764650 |
rs_768641298 |
3 SubmittersRCV000541562RCV003157640 |
|
NM_000059.4(BRCA2):c.1555A>G (p.Ser519Gly)
|
SNV Germline |
Chr13:32333033 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387764677 |
rs_1555281950 |
5 SubmittersRCV000555286RCV000580014RCV001090206 |
|
NM_000059.4(BRCA2):c.1597A>G (p.Thr533Ala)
|
SNV Germline |
Chr13:32333075 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764821 |
rs_1555281980 |
3 SubmittersRCV000554344RCV001012326 |
|
NM_000059.4(BRCA2):c.1645A>G (p.Lys549Glu)
|
SNV Germline |
Chr13:32333123 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial prostate cancer Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387764979 |
rs_1555281997 |
6 SubmittersRCV000532792RCV000567989RCV005357572 |
|
NM_000059.4(BRCA2):c.1794A>G (p.Thr598=)
|
SNV Germline |
Chr13:32333272 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA483436870 |
rs_1159099773 |
5 SubmittersRCV000546984RCV000569367RCV003235279RCV004802133 |
|
NM_000059.4(BRCA2):c.1888A>G (p.Thr630Ala)
|
SNV Germline |
Chr13:32333366 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387766739 |
rs_1335307553 |
8 SubmittersRCV000526957RCV000771482RCV001811040RCV005357573 |
|
NM_000059.4(BRCA2):c.1939T>G (p.Cys647Gly)
|
SNV Germline |
Chr13:32336294 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387768354 |
rs_1555282367 |
5 SubmittersRCV000529366RCV002255441RCV003478144 |
|
NM_000059.4(BRCA2):c.7973A>G (p.Tyr2658Cys)
|
SNV Germline |
Chr13:32362690 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387747356 |
rs_1555286875 |
2 SubmittersRCV000543976RCV005520300 |
|
NM_000059.4(BRCA2):c.8059G>A (p.Val2687Ile)
|
SNV Germline |
Chr13:32363261 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387749104 |
rs_80359044 |
3 SubmittersRCV000539299RCV001027120 |
|
NM_000059.4(BRCA2):c.2522G>C (p.Arg841Thr)
|
SNV Germline |
Chr13:32336877 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772469 |
rs_587781915 |
3 SubmittersRCV000555152RCV003157645 |
|
NM_000059.4(BRCA2):c.2650T>G (p.Ser884Ala)
|
SNV Germline |
Chr13:32337005 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773301 |
rs_1555282771 |
3 SubmittersRCV000549818RCV002456094 |
|
NM_000059.4(BRCA2):c.2689G>A (p.Glu897Lys)
|
SNV Germline |
Chr13:32337044 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247502815 |
rs_979372317 |
3 SubmittersRCV000527929RCV000777186 |
|
NM_000059.4(BRCA2):c.9372C>A (p.Asn3124Lys)
|
SNV Germline |
Chr13:32394804 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387761213 |
rs_1420566833 |
6 SubmittersRCV000540722RCV001775858RCV003493632RCV002377052RCV004568791 |
|
NM_000059.4(BRCA2):c.9501+6G>A
|
SNV Germline |
Chr13:32394939 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA609093425 |
rs_863224600 |
2 SubmittersRCV000547095RCV000580198 |
|
NM_000059.4(BRCA2):c.2698A>C (p.Asn900His)
|
SNV Germline |
Chr13:32337053 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773485 |
rs_55736268 |
4 SubmittersRCV000548310RCV000568709 |
|
NM_000059.4(BRCA2):c.2992G>T (p.Gly998Cys)
|
SNV Germline |
Chr13:32337347 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774619 |
rs_777615894 |
3 SubmittersRCV000527086RCV003157650 |
|
NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter)
|
SNV Germline |
Chr13:32398408 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387766882 |
rs_1555289997 |
3 SubmittersRCV000536354RCV002384090RCV004696937 |
|
NM_000059.4(BRCA2):c.3149C>T (p.Thr1050Ile)
|
SNV Germline |
Chr13:32337504 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247504652 |
rs_1010143466 |
3 SubmittersRCV000543517RCV001018811 |
|
NM_000059.4(BRCA2):c.3382A>T (p.Thr1128Ser)
|
SNV Germline |
Chr13:32337737 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776431 |
rs_730881523 |
2 SubmittersRCV000552725RCV003157655 |
|
NM_000059.4(BRCA2):c.3410T>C (p.Leu1137Ser)
|
SNV Germline |
Chr13:32337765 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776487 |
rs_1555283225 |
2 SubmittersRCV000556877RCV003157656 |
|
NM_000059.4(BRCA2):c.3577G>A (p.Ala1193Thr)
|
SNV Germline |
Chr13:32337932 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777366 |
rs_1555283297 |
4 SubmittersRCV000539752RCV001178549 |
|
NM_000059.4(BRCA2):c.3586T>A (p.Leu1196Met)
|
SNV Germline |
Chr13:32337941 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777406 |
rs_1449762196 |
4 SubmittersRCV000554658RCV001525112 |
|
NM_000059.4(BRCA2):c.3644G>A (p.Gly1215Glu)
|
SNV Germline |
Chr13:32337999 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940712 |
rs_773442698 |
6 SubmittersRCV000556462RCV000571908RCV002272282RCV003478145 |
|
NM_000059.4(BRCA2):c.3755C>A (p.Ser1252Tyr)
|
SNV Germline |
Chr13:32338110 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387778198 |
rs_1361496246 |
6 SubmittersRCV000525829RCV001199889RCV000777180RCV003999056 |
|
NM_000059.4(BRCA2):c.3816G>A (p.Met1272Ile)
|
SNV Germline |
Chr13:32338171 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778464 |
rs_1469541725 |
5 SubmittersRCV000558285RCV000781112RCV001284084RCV002367820 |
|
NM_000059.4(BRCA2):c.4072T>G (p.Phe1358Val)
|
SNV Germline |
Chr13:32338427 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779153 |
rs_1555283536 |
2 SubmittersRCV000537265RCV003157663 |
|
NM_000059.4(BRCA2):c.4120A>C (p.Lys1374Gln)
|
SNV Germline |
Chr13:32338475 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779329 |
rs_864622126 |
2 SubmittersRCV000550336RCV003157664 |
|
NM_000059.4(BRCA2):c.4567G>C (p.Gly1523Arg)
|
SNV Germline |
Chr13:32338922 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA6940793 |
rs_587781418 |
8 SubmittersRCV000554873RCV000779994RCV001022709RCV003478146RCV002528344 |
|
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter)
|
SNV Germline |
Chr13:32338946 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387781936 |
rs_1555283865 |
4 SubmittersRCV000557526RCV000657707RCV001022751 |
|
NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=)
|
SNV Germline |
Chr13:32338975 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA483438074 |
rs_1555283875 |
6 SubmittersRCV000528944RCV001180550RCV001356652RCV002282212 |
|
NM_000059.4(BRCA2):c.4655G>A (p.Gly1552Asp)
|
SNV Germline |
Chr13:32339010 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782214 |
rs_80358696 |
3 SubmittersRCV000527633RCV001022850 |
|
NM_000059.4(BRCA2):c.4696A>G (p.Thr1566Ala)
|
SNV Germline |
Chr13:32339051 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387782881 |
rs_1555283904 |
6 SubmittersRCV000531715RCV000581333RCV003321650RCV004802135 |
|
NM_000059.4(BRCA2):c.5350A>C (p.Asn1784His)
|
SNV Germline |
Chr13:32339705 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387785038 |
rs_1308950771 |
6 SubmittersRCV000552221RCV000573254RCV003999062 |
|
NM_000059.4(BRCA2):c.5494T>C (p.Ser1832Pro)
|
SNV Germline |
Chr13:32339849 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387785769 |
rs_1555284247 |
4 SubmittersRCV000551329RCV002350226RCV002268146 |
|
NM_000059.4(BRCA2):c.5717A>G (p.Asn1906Ser)
|
SNV Germline |
Chr13:32340072 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387786819 |
rs_1555284372 |
7 SubmittersRCV000560373RCV001185973RCV001764558RCV003999063 |
|
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro)
|
SNV Germline |
Chr13:32340293 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Fanconi anemia complementation group D1 |
Criteria Provided Conflicting Classifications |
CA6940915 |
rs_55877890 |
7 SubmittersRCV000531811RCV000568300RCV003999064RCV003447541 |
|
NM_000059.4(BRCA2):c.6106C>G (p.Pro2036Ala)
|
SNV Germline |
Chr13:32340461 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788111 |
rs_587782740 |
3 SubmittersRCV000541431RCV001178552 |
|
NM_000059.4(BRCA2):c.6677A>G (p.Glu2226Gly)
|
SNV Germline |
Chr13:32341032 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387790549 |
rs_1281267586 |
4 SubmittersRCV000528701RCV000569289RCV002280124 |
|
NM_000059.4(BRCA2):c.6847C>A (p.Pro2283Thr)
|
SNV Germline |
Chr13:32344563 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387792617 |
rs_80358909 |
4 SubmittersRCV000525458RCV002367825RCV003478147 |
|
NM_000059.4(BRCA2):c.7579G>A (p.Val2527Ile)
|
SNV Germline |
Chr13:32356571 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387743822 |
rs_1555286293 |
2 SubmittersRCV000532571RCV002395350 |
|
NM_000059.4(BRCA2):c.8548G>T (p.Glu2850Ter)
|
SNV Germline |
Chr13:32371016 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387752774 |
rs_80359110 |
5 SubmittersRCV000540222RCV000571409 |
|
NM_000059.4(BRCA2):c.8905G>T (p.Val2969Leu)
|
SNV Germline |
Chr13:32379467 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387757243 |
rs_59004709 |
3 SubmittersRCV000536017RCV005520301RCV003330764 |
|
NM_000059.4(BRCA2):c.8909G>A (p.Trp2970Ter)
|
SNV Germline |
Chr13:32379471 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387757254 |
rs_1555288397 |
4 SubmittersRCV000558467RCV000985610RCV002289751 |
|
NM_000059.4(BRCA2):c.9433G>T (p.Val3145Leu)
|
SNV Germline |
Chr13:32394865 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761547 |
rs_587776476 |
3 SubmittersRCV000554636RCV000776684 |
|
NM_000059.4(BRCA2):c.9926A>T (p.Glu3309Val)
|
SNV Germline |
Chr13:32398439 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387767103 |
rs_1064795880 |
2 SubmittersRCV000525127RCV004601200 |
|
NM_000059.4(BRCA2):c.10054C>G (p.Leu3352Val)
|
SNV Germline |
Chr13:32398567 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387767846 |
rs_1475702169 |
4 SubmittersRCV000543513RCV003607298RCV001009670RCV004596243 |
|
NM_000059.4(BRCA2):c.10127C>G (p.Ser3376Ter)
|
SNV Germline |
Chr13:32398640 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768086 |
rs_1555290049 |
5 SubmittersRCV000587368RCV000775705RCV001479993 |
|
NM_000059.4(BRCA2):c.256C>T (p.Leu86=)
|
SNV Germline |
Chr13:32319265 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483436136 |
rs_1555280404 |
3 SubmittersRCV000570115RCV002527979RCV002476213 |
|
NM_000059.4(BRCA2):c.68-5A>G
|
SNV Germline |
Chr13:32319072 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA658656327 |
rs_1555280326 |
3 SubmittersRCV000561594RCV001243342RCV004569147 |
|
NM_000059.4(BRCA2):c.81A>G (p.Ile27Met)
|
SNV Germline |
Chr13:32319090 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387754061 |
rs_1555280333 |
3 SubmittersRCV000562416RCV000637691RCV004586801 |
|
NM_000059.4(BRCA2):c.182T>C (p.Leu61Pro)
|
SNV Germline |
Chr13:32319191 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387754349 |
rs_1555280374 |
3 SubmittersRCV000561382RCV000804882 |
|
NM_000059.4(BRCA2):c.1102T>C (p.Ser368Pro)
|
SNV Germline |
Chr13:32332580 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761562 |
rs_1555281736 |
2 SubmittersRCV000561618 |
|
NM_000059.4(BRCA2):c.1277A>C (p.Lys426Thr)
|
SNV Germline |
Chr13:32332755 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762411 |
rs_1421854019 |
8 SubmittersRCV000568483RCV000588909RCV000637322 |
|
NM_000059.4(BRCA2):c.1385A>T (p.Glu462Val)
|
SNV Germline |
Chr13:32332863 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition not specified |
Criteria Provided Conflicting Classifications |
CA387763037 |
rs_56403624 |
4 SubmittersRCV000565999RCV004802212RCV005240215 |
|
NM_000059.4(BRCA2):c.1416G>C (p.Gln472His)
|
SNV Germline |
Chr13:32332894 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764211 |
rs_876659746 |
2 SubmittersRCV000573947 |
|
NM_000059.4(BRCA2):c.1550A>T (p.Asn517Ile)
|
SNV Germline |
Chr13:32333028 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764662 |
rs_80358439 |
3 SubmittersRCV000573079RCV001237084 |
|
NM_000059.4(BRCA2):c.473C>G (p.Ser158Ter)
|
SNV Germline |
Chr13:32326148 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Multiple Submitters No Conflicts |
CA387757253 |
rs_80358701 |
4 SubmittersRCV000566805RCV000657702RCV004802230 |
|
NM_000059.4(BRCA2):c.1767G>C (p.Lys589Asn)
|
SNV Germline |
Chr13:32333245 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765619 |
rs_1555282059 |
2 SubmittersRCV000560966 |
|
NM_000059.4(BRCA2):c.1807A>G (p.Lys603Glu)
|
SNV Germline |
Chr13:32333285 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387765926 |
rs_1555282089 |
3 SubmittersRCV000571043RCV001224437 |
|
NM_000059.4(BRCA2):c.2044A>G (p.Ile682Val)
|
SNV Germline |
Chr13:32336399 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768937 |
rs_398122738 |
3 SubmittersRCV000560974RCV001367308 |
|
NM_000059.4(BRCA2):c.2276T>C (p.Leu759Pro)
|
SNV Germline |
Chr13:32336631 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387771110 |
rs_1555282592 |
5 SubmittersRCV000568499RCV000985473RCV001209821 |
|
NM_000059.4(BRCA2):c.2282A>G (p.Tyr761Cys)
|
SNV Germline |
Chr13:32336637 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387771143 |
rs_879255443 |
7 SubmittersRCV000566368RCV000815303RCV001800775RCV003493654 |
|
NM_000059.4(BRCA2):c.793G>A (p.Gly265Arg)
|
SNV Germline |
Chr13:32331030 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387760269 |
rs_1403242422 |
5 SubmittersRCV001232619RCV000568539RCV000679189RCV003476318 |
|
NM_000059.4(BRCA2):c.2348T>C (p.Val783Ala)
|
SNV Germline |
Chr13:32336703 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940597 |
rs_768143929 |
6 SubmittersRCV000564881RCV000696795RCV003999529RCV004721446 |
|
NM_000059.4(BRCA2):c.2453A>G (p.Asn818Ser)
|
SNV Germline |
Chr13:32336808 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772289 |
rs_1555282681 |
3 SubmittersRCV000567852RCV005091343 |
|
NM_000059.4(BRCA2):c.812G>A (p.Gly271Glu)
|
SNV Germline |
Chr13:32332290 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387760394 |
rs_1247032180 |
6 SubmittersRCV000566757RCV000706930RCV001779011RCV004000927 |
|
NM_000059.4(BRCA2):c.2461G>A (p.Val821Ile)
|
SNV Germline |
Chr13:32336816 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940607 |
rs_756411508 |
7 SubmittersRCV000564932RCV000590888RCV001354575 |
|
NM_000059.4(BRCA2):c.2596G>A (p.Glu866Lys)
|
SNV Germline |
Chr13:32336951 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387772620 |
rs_864622476 |
5 SubmittersRCV000570600RCV001109532RCV001109533RCV001867857RCV004802211 |
|
NM_000059.4(BRCA2):c.2704G>T (p.Ala902Ser)
|
SNV Germline |
Chr13:32337059 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773510 |
rs_768648043 |
3 SubmittersRCV000561800 |
|
NM_000059.4(BRCA2):c.842A>G (p.Asp281Gly)
|
SNV Germline |
Chr13:32332320 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387760501 |
rs_1555281610 |
4 SubmittersRCV000561981RCV001858184RCV003476329 |
|
NM_000059.4(BRCA2):c.847A>T (p.Ile283Phe)
|
SNV Germline |
Chr13:32332325 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760520 |
rs_80359097 |
3 SubmittersRCV000572027RCV005091370 |
|
NM_000059.4(BRCA2):c.995T>A (p.Ile332Asn)
|
SNV Germline |
Chr13:32332473 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387761017 |
rs_1555281682 |
5 SubmittersRCV000814918RCV000563072RCV004592648 |
|
NM_000059.4(BRCA2):c.1134T>A (p.Ser378Arg)
|
SNV Germline |
Chr13:32332612 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387761753 |
rs_1555281748 |
5 SubmittersRCV000565338RCV001042138RCV001800784 |
|
NM_000059.4(BRCA2):c.2804A>G (p.Asp935Gly)
|
SNV Germline |
Chr13:32337159 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773751 |
rs_1555282864 |
3 SubmittersRCV000566429RCV002530250 |
|
NM_000059.4(BRCA2):c.1216G>A (p.Ala406Thr)
|
SNV Germline |
Chr13:32332694 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940498 |
rs_751535164 |
6 SubmittersRCV000564797RCV000781103RCV001354475 |
|
NM_000059.4(BRCA2):c.1221G>T (p.Gln407His)
|
SNV Germline |
Chr13:32332699 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762128 |
rs_1555281779 |
2 SubmittersRCV000569194 |
|
NM_000059.4(BRCA2):c.1262A>G (p.Gln421Arg)
|
SNV Germline |
Chr13:32332740 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387762331 |
rs_1555281798 |
4 SubmittersRCV000572339RCV001297331RCV004732945 |
|
NM_000059.4(BRCA2):c.1457A>C (p.Gln486Pro)
|
SNV Germline |
Chr13:32332935 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764356 |
rs_757735681 |
3 SubmittersRCV000564559RCV000799407 |
|
NM_000059.4(BRCA2):c.1509G>C (p.Lys503Asn)
|
SNV Germline |
Chr13:32332987 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764517 |
rs_1555281928 |
3 SubmittersRCV000566446RCV003645050 |
|
NM_000059.4(BRCA2):c.1510T>A (p.Ser504Thr)
|
SNV Germline |
Chr13:32332988 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764521 |
rs_786203006 |
3 SubmittersRCV000564138RCV000793608 |
|
NM_000059.4(BRCA2):c.2812G>A (p.Ala938Thr)
|
SNV Germline |
Chr13:32337167 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940631 |
rs_768556548 |
5 SubmittersRCV000574545RCV002461367RCV001219024RCV005251150 |
|
NM_000059.4(BRCA2):c.2821G>C (p.Val941Leu)
|
SNV Germline |
Chr13:32337176 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773793 |
rs_863224586 |
3 SubmittersRCV000568314RCV001858085 |
|
NM_000059.4(BRCA2):c.3064C>T (p.His1022Tyr)
|
SNV Germline |
Chr13:32337419 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA6940658 |
rs_765882871 |
6 SubmittersRCV000568287RCV001223508RCV004802231RCV005357680 |
|
NM_000059.4(BRCA2):c.3084A>C (p.Lys1028Asn)
|
SNV Germline |
Chr13:32337439 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387775232 |
rs_1555283043 |
4 SubmittersRCV000561379RCV001203943RCV005231098 |
|
NM_000059.4(BRCA2):c.3128C>G (p.Ala1043Gly)
|
SNV Germline |
Chr13:32337483 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387775722 |
rs_1555283059 |
4 SubmittersRCV000573287RCV000684881RCV004000935 |
|
NM_000059.4(BRCA2):c.1732G>C (p.Gly578Arg)
|
SNV Germline |
Chr13:32333210 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Ovarian cancer |
Criteria Provided Conflicting Classifications |
CA387765390 |
rs_1555282036 |
5 SubmittersRCV000570541RCV002250660RCV003153741 |
|
NM_000059.4(BRCA2):c.1931A>T (p.Lys644Ile)
|
SNV Germline |
Chr13:32336286 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768312 |
rs_1555282365 |
2 SubmittersRCV000572009 |
|
NM_000059.4(BRCA2):c.1940G>A (p.Cys647Tyr)
|
SNV Germline |
Chr13:32336295 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768359 |
rs_1555282368 |
5 SubmittersRCV000575462RCV000759583RCV000814757 |
|
NM_000059.4(BRCA2):c.2030C>T (p.Ser677Phe)
|
SNV Germline |
Chr13:32336385 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768877 |
rs_1555282410 |
2 SubmittersRCV000568117 |
|
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter)
|
SNV Germline |
Chr13:32337740 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387776436 |
rs_1555283209 |
5 SubmittersRCV000587755RCV000657682RCV000573112 |
|
NM_000059.4(BRCA2):c.3398C>T (p.Pro1133Leu)
|
SNV Germline |
Chr13:32337753 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776467 |
rs_1170876773 |
3 SubmittersRCV000565144RCV001858185 |
|
NM_000059.4(BRCA2):c.3426T>A (p.Phe1142Leu)
|
SNV Germline |
Chr13:32337781 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776543 |
rs_760681272 |
3 SubmittersRCV000568806RCV005056209 |
|
NM_000059.4(BRCA2):c.3521G>A (p.Gly1174Asp)
|
SNV Germline |
Chr13:32337876 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387777051 |
rs_1555283272 |
4 SubmittersRCV000561139RCV000637583RCV003607303 |
|
NM_000059.4(BRCA2):c.2215C>G (p.His739Asp)
|
SNV Germline |
Chr13:32336570 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770616 |
rs_1555282536 |
3 SubmittersRCV000565578RCV003530079 |
|
NM_000059.4(BRCA2):c.3664G>T (p.Ala1222Ser)
|
SNV Germline |
Chr13:32338019 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387777981 |
rs_1555283343 |
5 SubmittersRCV000572943RCV001283922RCV001361301 |
|
NM_000059.4(BRCA2):c.3788G>A (p.Ser1263Asn)
|
SNV Germline |
Chr13:32338143 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778357 |
rs_1555283398 |
3 SubmittersRCV000566753RCV000701605 |
|
NM_000059.4(BRCA2):c.2240A>C (p.Glu747Ala)
|
SNV Germline |
Chr13:32336595 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770814 |
rs_397507283 |
3 SubmittersRCV000572016RCV002527977 |
|
NM_000059.4(BRCA2):c.3832C>A (p.His1278Asn)
|
SNV Germline |
Chr13:32338187 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387778536 |
rs_1555283417 |
4 SubmittersRCV000568189RCV000803223RCV005000277 |
|
NM_000059.4(BRCA2):c.3891T>A (p.Asn1297Lys)
|
SNV Germline |
Chr13:32338246 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778768 |
rs_1555283450 |
2 SubmittersRCV000569294 |
|
NM_000059.4(BRCA2):c.3905C>T (p.Thr1302Ile)
|
SNV Germline |
Chr13:32338260 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247506143 |
rs_80358634 |
5 SubmittersRCV000573175RCV000637448RCV003478202 |
|
NM_000059.4(BRCA2):c.4019A>C (p.Asp1340Ala)
|
SNV Germline |
Chr13:32338374 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779037 |
rs_1555283506 |
2 SubmittersRCV000561629 |
|
NM_000059.4(BRCA2):c.4115T>A (p.Phe1372Tyr)
|
SNV Germline |
Chr13:32338470 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779304 |
rs_1555283567 |
2 SubmittersRCV000572611 |
|
NM_000059.4(BRCA2):c.4150T>A (p.Leu1384Met)
|
SNV Germline |
Chr13:32338505 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940755 |
rs_779408742 |
4 SubmittersRCV000572775RCV000637416 |
|
NM_000059.4(BRCA2):c.4253T>C (p.Ile1418Thr)
|
SNV Germline |
Chr13:32338608 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940764 |
rs_754119978 |
4 SubmittersRCV000573134RCV002530304 |
|
NM_000059.4(BRCA2):c.2396A>G (p.Lys799Arg)
|
SNV Germline |
Chr13:32336751 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387771943 |
rs_1555282656 |
9 SubmittersRCV000571372RCV000769685RCV000802457RCV002476223RCV005231090RCV005357669 |
|
NM_000059.4(BRCA2):c.4367A>G (p.Glu1456Gly)
|
SNV Germline |
Chr13:32338722 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780990 |
rs_878853584 |
2 SubmittersRCV000572727 |
|
NM_000059.4(BRCA2):c.2447A>G (p.Glu816Gly)
|
SNV Germline |
Chr13:32336802 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772261 |
rs_1555282673 |
3 SubmittersRCV000562111RCV003645052 |
|
NM_000059.4(BRCA2):c.4652A>G (p.Gln1551Arg)
|
SNV Germline |
Chr13:32339007 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387782194 |
rs_1391223943 |
6 SubmittersRCV000566456RCV001221970RCV003451240 |
|
NM_000059.4(BRCA2):c.4706A>G (p.Tyr1569Cys)
|
SNV Germline |
Chr13:32339061 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782915 |
rs_1555283910 |
2 SubmittersRCV000567150 |
|
NM_000059.4(BRCA2):c.2456A>G (p.Gln819Arg)
|
SNV Germline |
Chr13:32336811 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772305 |
rs_1555282683 |
3 SubmittersRCV000561854RCV001858186 |
|
NM_000059.4(BRCA2):c.4808A>T (p.Asn1603Ile)
|
SNV Germline |
Chr13:32339163 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247508443 |
rs_890665355 |
6 SubmittersRCV000563820RCV000709312RCV000989032RCV001283926 |
|
NM_000059.4(BRCA2):c.4891A>C (p.Lys1631Gln)
|
SNV Germline |
Chr13:32339246 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783521 |
rs_748213879 |
2 SubmittersRCV000568201 |
|
NM_000059.4(BRCA2):c.4987G>A (p.Val1663Ile)
|
SNV Germline |
Chr13:32339342 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA387783882 |
rs_587781763 |
6 SubmittersRCV000574969RCV000704315RCV003234781RCV003323619 |
|
NM_000059.4(BRCA2):c.2793A>C (p.Gly931=)
|
SNV Germline |
Chr13:32337148 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483437420 |
rs_786201315 |
5 SubmittersRCV000565459RCV000586053RCV000920539 |
|
NM_000059.4(BRCA2):c.2816C>G (p.Thr939Ser)
|
SNV Germline |
Chr13:32337171 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773777 |
rs_1555282879 |
2 SubmittersRCV000575690 |
|
NM_000059.4(BRCA2):c.5424T>G (p.Ile1808Met)
|
SNV Germline |
Chr13:32339779 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785439 |
rs_1555284218 |
2 SubmittersRCV000569899 |
|
NM_000059.4(BRCA2):c.5579A>G (p.Lys1860Arg)
|
SNV Germline |
Chr13:32339934 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786012 |
rs_1555284280 |
5 SubmittersRCV000571620RCV002307546RCV005620974RCV002526774 |
|
NM_000059.4(BRCA2):c.2953A>G (p.Lys985Glu)
|
SNV Germline |
Chr13:32337308 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387774387 |
rs_1555282970 |
4 SubmittersRCV000566817RCV003645028RCV005000236 |
|
NM_000059.4(BRCA2):c.5609T>G (p.Phe1870Cys)
|
SNV Germline |
Chr13:32339964 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387786080 |
rs_1135401908 |
4 SubmittersRCV000562493RCV001858084RCV005000235 |
|
NM_000059.4(BRCA2):c.5821A>C (p.Lys1941Gln)
|
SNV Germline |
Chr13:32340176 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787290 |
rs_1555284411 |
2 SubmittersRCV000565696 |
|
NM_000059.4(BRCA2):c.5886A>G (p.Ile1962Met)
|
SNV Germline |
Chr13:32340241 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247511881 |
rs_987442188 |
3 SubmittersRCV000563919RCV005091335 |
|
NM_000059.4(BRCA2):c.3012T>G (p.Ser1004Arg)
|
SNV Germline |
Chr13:32337367 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774760 |
rs_1555283009 |
4 SubmittersRCV000571330RCV001312879 |
|
NM_000059.4(BRCA2):c.6088A>G (p.Asn2030Asp)
|
SNV Germline |
Chr13:32340443 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387788047 |
rs_1555284539 |
5 SubmittersRCV000574021RCV000696990RCV003226326RCV005000278 |
|
NM_000059.4(BRCA2):c.6094G>T (p.Ala2032Ser)
|
SNV Germline |
Chr13:32340449 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788071 |
rs_786203284 |
3 SubmittersRCV000565512RCV002530334 |
|
NM_000059.4(BRCA2):c.6158C>A (p.Ser2053Tyr)
|
SNV Germline |
Chr13:32340513 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788311 |
rs_1555284574 |
4 SubmittersRCV000564414RCV000759633RCV001858080 |
|
NM_000059.4(BRCA2):c.6170G>A (p.Gly2057Glu)
|
SNV Germline |
Chr13:32340525 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387788356 |
rs_876660308 |
4 SubmittersRCV000568900RCV002528119RCV004001020 |
|
NM_000059.4(BRCA2):c.3180C>G (p.Ser1060Arg)
|
SNV Germline |
Chr13:32337535 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775826 |
rs_786203536 |
3 SubmittersRCV000568485RCV001211903 |
|
NM_000059.4(BRCA2):c.3324G>T (p.Lys1108Asn)
|
SNV Germline |
Chr13:32337679 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387776250 |
rs_1555283170 |
4 SubmittersRCV000572293RCV001264524RCV004001019 |
|
NM_000059.4(BRCA2):c.6623A>G (p.Asn2208Ser)
|
SNV Germline |
Chr13:32340978 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940971 |
rs_767110818 |
5 SubmittersRCV000563501RCV001066486RCV004802234 |
|
NM_000059.4(BRCA2):c.3387G>T (p.Gln1129His)
|
SNV Germline |
Chr13:32337742 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387776441 |
rs_1555283211 |
5 SubmittersRCV000569133RCV001372772RCV004802227RCV005603639 |
|
NM_000059.4(BRCA2):c.6727T>C (p.Ser2243Pro)
|
SNV Germline |
Chr13:32341082 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791060 |
rs_1555284829 |
2 SubmittersRCV000564907 |
|
NM_000059.4(BRCA2):c.3433C>G (p.Pro1145Ala)
|
SNV Germline |
Chr13:32337788 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776577 |
rs_1555283232 |
2 SubmittersRCV000574369 |
|
NM_000059.4(BRCA2):c.6778G>A (p.Glu2260Lys)
|
SNV Germline |
Chr13:32341133 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387791252 |
rs_1555284853 |
4 SubmittersRCV001248161RCV000573696RCV004802192 |
|
NM_000059.4(BRCA2):c.6827C>A (p.Pro2276His)
|
SNV Germline |
Chr13:32341182 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940989 |
rs_748541466 |
8 SubmittersRCV000566942RCV001550563RCV001526954RCV001858154RCV004000912 |
|
NM_000059.4(BRCA2):c.6829C>G (p.Leu2277Val)
|
SNV Germline |
Chr13:32341184 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387791471 |
rs_786202214 |
4 SubmittersRCV000575181RCV000758939RCV005091296 |
|
NM_000059.4(BRCA2):c.3706A>G (p.Lys1236Glu)
|
SNV Germline |
Chr13:32338061 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778057 |
rs_1555283367 |
4 SubmittersRCV000564778RCV001853764 |
|
NM_000059.4(BRCA2):c.3808G>T (p.Val1270Phe)
|
SNV Germline |
Chr13:32338163 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778441 |
rs_876658938 |
3 SubmittersRCV000563060RCV002528117 |
|
NM_000059.4(BRCA2):c.3822G>A (p.Lys1274=)
|
SNV Germline |
Chr13:32338177 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA483437963 |
rs_1555283410 |
7 SubmittersRCV000563441RCV001333164RCV000590381RCV001402026RCV001565197RCV005235431 |
|
NM_000059.4(BRCA2):c.4280T>A (p.Phe1427Tyr)
|
SNV Germline |
Chr13:32338635 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387780608 |
rs_886463005 |
3 SubmittersRCV000574875RCV001345552 |
|
NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly)
|
SNV Germline |
Chr13:32319100 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast |
Criteria Provided Conflicting Classifications |
CA387754107 |
rs_80359182 |
8 SubmittersRCV000568041RCV000759687RCV001215898RCV004000929RCV003330801 |
|
NM_000059.4(BRCA2):c.332A>G (p.Asn111Ser)
|
SNV Germline |
Chr13:32325091 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387756537 |
rs_1555280840 |
2 SubmittersRCV000569068RCV001867858 |
|
NM_000059.4(BRCA2):c.4649A>C (p.Glu1550Ala)
|
SNV Germline |
Chr13:32339004 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387782183 |
rs_876660887 |
3 SubmittersRCV000568464RCV001858265 |
|
NM_000059.4(BRCA2):c.4915G>C (p.Val1639Leu)
|
SNV Germline |
Chr13:32339270 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783602 |
rs_80358716 |
3 SubmittersRCV000573642RCV005091344 |
|
NM_000059.4(BRCA2):c.5039C>A (p.Ser1680Tyr)
|
SNV Germline |
Chr13:32339394 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783999 |
rs_1555284041 |
5 SubmittersRCV000589794RCV000574179RCV003767095 |
|
NM_000059.4(BRCA2):c.5110A>G (p.Arg1704Gly)
|
SNV Germline |
Chr13:32339465 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784136 |
rs_1064795652 |
4 SubmittersRCV000566771RCV003645027 |
|
NM_000059.4(BRCA2):c.793+1G>C
|
SNV Germline |
Chr13:32331031 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome 8 conditions |
Criteria Provided Multiple Submitters No Conflicts |
CA387760275 |
rs_81002846 |
4 SubmittersRCV000573440RCV000576675RCV000794282RCV005398875 |
|
NM_000059.4(BRCA2):c.861G>A (p.Met287Ile)
|
SNV Germline |
Chr13:32332339 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760569 |
rs_1555281614 |
2 SubmittersRCV000568733 |
|
NM_000059.4(BRCA2):c.905C>T (p.Thr302Ile)
|
SNV Germline |
Chr13:32332383 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760688 |
rs_80359158 |
4 SubmittersRCV000707301RCV000567016 |
|
NM_000059.4(BRCA2):c.5222G>C (p.Ser1741Thr)
|
SNV Germline |
Chr13:32339577 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784640 |
rs_1555284119 |
2 SubmittersRCV000573047 |
|
NM_000059.4(BRCA2):c.1217C>G (p.Ala406Gly)
|
SNV Germline |
Chr13:32332695 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA247496852 |
rs_1005568368 |
8 SubmittersRCV000565726RCV000589717RCV001037283RCV004001011RCV005010543 |
|
NM_000059.4(BRCA2):c.5245T>G (p.Tyr1749Asp)
|
SNV Germline |
Chr13:32339600 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784692 |
rs_876658731 |
3 SubmittersRCV000564773RCV003645044 |
|
NM_000059.4(BRCA2):c.5274T>C (p.Asn1758=)
|
SNV Germline |
Chr13:32339629 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483438491 |
rs_1555284142 |
3 SubmittersRCV000570572RCV000875121RCV004767396 |
|
NM_000059.4(BRCA2):c.5284T>G (p.Tyr1762Asp)
|
SNV Germline |
Chr13:32339639 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387784769 |
rs_1192019733 |
9 SubmittersRCV000706689RCV000989039RCV000575439RCV001284427 |
|
NM_000059.4(BRCA2):c.7787G>T (p.Gly2596Val)
|
SNV Germline |
Chr13:32357911 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387746014 |
rs_1064795140 |
4 SubmittersRCV000570320RCV001858271RCV003234784 |
|
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly)
|
SNV Germline |
Chr13:32357920 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition not specified |
Reviewed By Expert Panel |
CA387746086 |
rs_780715340 |
5 SubmittersRCV000562312RCV000637780RCV005415436RCV002268186 |
|
NM_000059.4(BRCA2):c.7820C>T (p.Thr2607Ile)
|
SNV Germline |
Chr13:32362537 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387746983 |
rs_1555286821 |
4 SubmittersRCV001171394RCV000818024RCV000575468RCV003459345 |
|
NM_000059.4(BRCA2):c.5500A>G (p.Ser1834Gly)
|
SNV Germline |
Chr13:32339855 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940880 |
rs_760602053 |
4 SubmittersRCV000570636RCV000799159 |
|
NM_000059.4(BRCA2):c.5551A>T (p.Ile1851Phe)
|
SNV Germline |
Chr13:32339906 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785957 |
rs_1555284265 |
3 SubmittersRCV000570605RCV001213951 |
|
NM_000059.4(BRCA2):c.1408G>A (p.Glu470Lys)
|
SNV Germline |
Chr13:32332886 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764178 |
rs_1555281898 |
3 SubmittersRCV000570896RCV001240390 |
|
NM_000059.4(BRCA2):c.5629A>G (p.Asn1877Asp)
|
SNV Germline |
Chr13:32339984 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786121 |
rs_1555284317 |
4 SubmittersRCV000562707RCV001591320RCV002527978 |
|
NM_000059.4(BRCA2):c.5789T>C (p.Leu1930Ser)
|
SNV Germline |
Chr13:32340144 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787167 |
rs_397507805 |
3 SubmittersRCV000566221RCV001360314 |
|
NM_000059.4(BRCA2):c.5873G>A (p.Cys1958Tyr)
|
SNV Germline |
Chr13:32340228 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787440 |
rs_1168669263 |
2 SubmittersRCV000570705 |
|
NM_000059.4(BRCA2):c.1547T>A (p.Phe516Tyr)
|
SNV Germline |
Chr13:32333025 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940524 |
rs_768641298 |
3 SubmittersRCV000571171RCV001867881 |
|
NM_000059.4(BRCA2):c.8100A>G (p.Ile2700Met)
|
SNV Germline |
Chr13:32363302 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749304 |
rs_1555286995 |
3 SubmittersRCV000575820RCV001260313RCV002530303 |
|
NM_000059.4(BRCA2):c.8104G>C (p.Glu2702Gln)
|
SNV Germline |
Chr13:32363306 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA247477685 |
rs_186224762 |
3 SubmittersRCV000572694RCV001037909RCV004001112 |
|
NM_000059.4(BRCA2):c.5923T>C (p.Cys1975Arg)
|
SNV Germline |
Chr13:32340278 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787537 |
rs_1555284462 |
3 SubmittersRCV000568115RCV001858083 |
|
NM_000059.4(BRCA2):c.5924G>A (p.Cys1975Tyr)
|
SNV Germline |
Chr13:32340279 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387787539 |
rs_767378196 |
9 SubmittersRCV000571254RCV001359518RCV003329310RCV004596272RCV004024480RCV005624415RCV004802210 |
|
NM_000059.4(BRCA2):c.2149T>G (p.Cys717Gly)
|
SNV Germline |
Chr13:32336504 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770180 |
rs_1555282483 |
5 SubmittersRCV000575188RCV001563452RCV001858267 |
|
NM_000059.4(BRCA2):c.5996T>A (p.Val1999Glu)
|
SNV Germline |
Chr13:32340351 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787667 |
rs_1555284494 |
3 SubmittersRCV000563619RCV003645038 |
|
NM_000059.4(BRCA2):c.8252T>G (p.Ile2751Ser)
|
SNV Germline |
Chr13:32363454 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387749957 |
rs_1555287065 |
2 SubmittersRCV000575791RCV000587465 |
|
NM_000059.4(BRCA2):c.8267C>G (p.Ala2756Gly)
|
SNV Germline |
Chr13:32363469 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387750021 |
rs_1555287069 |
3 SubmittersRCV000571440RCV001764659RCV002528115 |
|
NM_000059.4(BRCA2):c.2197G>T (p.Val733Phe)
|
SNV Germline |
Chr13:32336552 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770484 |
rs_876658303 |
3 SubmittersRCV000576121RCV001858268 |
|
NM_000059.4(BRCA2):c.2244C>G (p.Tyr748Ter)
|
SNV Germline |
Chr13:32336599 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387770853 |
rs_1555282563 |
3 SubmittersRCV000569671RCV001283915RCV001389997 |
|
NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr)
|
SNV Germline |
Chr13:32340476 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387788163 |
rs_1160083526 |
8 SubmittersRCV000575027RCV000808364RCV002509439RCV002250658RCV004000831RCV005357635 |
|
NM_000059.4(BRCA2):c.2321C>T (p.Thr774Ile)
|
SNV Germline |
Chr13:32336676 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387771456 |
rs_1239876081 |
6 SubmittersRCV000562056RCV002248789RCV001206256RCV005000309 |
|
NM_000059.4(BRCA2):c.6121T>C (p.Ser2041Pro)
|
SNV Germline |
Chr13:32340476 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387788165 |
rs_1160083526 |
6 SubmittersRCV001193886RCV000572108RCV000813354RCV001775881RCV004000832 |
|
NM_000059.4(BRCA2):c.6149T>C (p.Val2050Ala)
|
SNV Germline |
Chr13:32340504 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788278 |
rs_767873595 |
2 SubmittersRCV000573074 |
|
NM_000059.4(BRCA2):c.8339C>A (p.Ala2780Asp)
|
SNV Germline |
Chr13:32370409 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387752342 |
rs_1555287606 |
1 SubmittersRCV000567950 |
|
NM_000059.4(BRCA2):c.6363A>T (p.Glu2121Asp)
|
SNV Germline |
Chr13:32340718 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789151 |
rs_1555284653 |
2 SubmittersRCV000565065 |
|
NM_000059.4(BRCA2):c.2386G>C (p.Asp796His)
|
SNV Germline |
Chr13:32336741 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771873 |
rs_1555282650 |
3 SubmittersRCV000573782 |
|
NM_000059.4(BRCA2):c.6395T>G (p.Leu2132Ter)
|
SNV Germline |
Chr13:32340750 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA387789224 |
rs_1555284658 |
2 SubmittersRCV000563198RCV000661576 |
|
NM_000059.4(BRCA2):c.2451G>T (p.Lys817Asn)
|
SNV Germline |
Chr13:32336806 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940605 |
rs_767686668 |
7 SubmittersRCV000569494RCV000781098RCV000758875RCV001307982 |
|
NM_000059.4(BRCA2):c.2452A>C (p.Asn818His)
|
SNV Germline |
Chr13:32336807 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6940606 |
rs_750667529 |
6 SubmittersRCV000571789RCV001368851RCV001821672 |
|
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val)
|
SNV Germline |
Chr13:32340909 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome BRCA2-related disorder Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA247514034 |
rs_980859921 |
8 SubmittersRCV000574498RCV000989053RCV000709328RCV004527661RCV004701665 |
|
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe)
|
SNV Germline |
Chr13:32370522 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387752584 |
rs_80359094 |
8 SubmittersRCV000566230RCV001320393RCV001821668RCV003227793RCV003234782 |
|
NM_000059.4(BRCA2):c.2519T>C (p.Met840Thr)
|
SNV Germline |
Chr13:32336874 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940610 |
rs_758009637 |
5 SubmittersRCV000564018RCV000694649RCV004000926 |
|
NM_000059.4(BRCA2):c.8456A>T (p.Asp2819Val)
|
SNV Germline |
Chr13:32370526 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752592 |
rs_1555287655 |
2 SubmittersRCV000567807RCV001240619 |
|
NM_000059.4(BRCA2):c.6611C>G (p.Pro2204Arg)
|
SNV Germline |
Chr13:32340966 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790155 |
rs_1555284771 |
2 SubmittersRCV000570763 |
|
NM_000059.4(BRCA2):c.2521A>G (p.Arg841Gly)
|
SNV Germline |
Chr13:32336876 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772468 |
rs_1555282722 |
3 SubmittersRCV000564775RCV005091376 |
|
NM_000059.4(BRCA2):c.8633-3T>G
|
SNV Germline |
Chr13:32376667 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA609092852 |
rs_1283205861 |
3 SubmittersRCV000637389RCV000570857RCV005438010 |
|
NM_000059.4(BRCA2):c.2596G>T (p.Glu866Ter)
|
SNV Germline |
Chr13:32336951 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387772621 |
rs_864622476 |
1 SubmittersRCV000569074 |
|
NM_000059.4(BRCA2):c.2642A>G (p.Glu881Gly)
|
SNV Germline |
Chr13:32336997 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773269 |
rs_1284899820 |
2 SubmittersRCV000560993 |
|
NM_000059.4(BRCA2):c.2648T>C (p.Phe883Ser)
|
SNV Germline |
Chr13:32337003 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773290 |
rs_1555282770 |
3 SubmittersRCV000575458RCV001858086 |
|
NM_000059.4(BRCA2):c.6619A>G (p.Thr2207Ala)
|
SNV Germline |
Chr13:32340974 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA16622064 |
rs_1555284772 |
4 SubmittersRCV000574573RCV001345669RCV002272286 |
|
NM_000059.4(BRCA2):c.6647C>G (p.Ser2216Cys)
|
SNV Germline |
Chr13:32341002 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387790379 |
rs_1555284777 |
4 SubmittersRCV000570200RCV004000835RCV005056195 |
|
NM_000059.4(BRCA2):c.2870A>G (p.Asn957Ser)
|
SNV Germline |
Chr13:32337225 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774021 |
rs_1555282918 |
4 SubmittersRCV000566925RCV000799838 |
|
NM_000059.4(BRCA2):c.2922C>G (p.Asp974Glu)
|
SNV Germline |
Chr13:32337277 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA247503315 |
rs_929538989 |
7 SubmittersRCV000560988RCV003478203RCV000779991RCV001038891RCV004802189 |
|
NM_000059.4(BRCA2):c.3107A>T (p.Glu1036Val)
|
SNV Germline |
Chr13:32337462 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387775387 |
rs_1555283053 |
3 SubmittersRCV000573840RCV003478227 |
|
NM_000059.4(BRCA2):c.9037A>G (p.Thr3013Ala)
|
SNV Germline |
Chr13:32379833 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387757515 |
rs_1555288470 |
4 SubmittersRCV000570012RCV001375531RCV002298665RCV003318596 |
|
NM_000059.4(BRCA2):c.3368G>A (p.Ser1123Asn)
|
SNV Germline |
Chr13:32337723 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387776393 |
rs_1555283202 |
5 SubmittersRCV000572509RCV001054565RCV001358197RCV004773009 |
|
NM_000059.4(BRCA2):c.9147C>G (p.Tyr3049Ter)
|
SNV Germline |
Chr13:32380036 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387757888 |
rs_886040823 |
4 SubmittersRCV000564771RCV001858183RCV003459319 |
|
NM_000059.4(BRCA2):c.9208T>C (p.Ser3070Pro)
|
SNV Germline |
Chr13:32380097 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387758332 |
rs_1555288554 |
2 SubmittersRCV000563493RCV001223442 |
|
NM_000059.4(BRCA2):c.3460A>G (p.Thr1154Ala)
|
SNV Germline |
Chr13:32337815 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776739 |
rs_1555283255 |
2 SubmittersRCV000572739 |
|
NM_000059.4(BRCA2):c.3595G>T (p.Asp1199Tyr)
|
SNV Germline |
Chr13:32337950 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387777459 |
rs_1060502404 |
3 SubmittersRCV000567282RCV005091299 |
|
NM_000059.4(BRCA2):c.3691A>T (p.Thr1231Ser)
|
SNV Germline |
Chr13:32338046 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778030 |
rs_1555283363 |
3 SubmittersRCV000573243RCV001858161 |
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
SNV Germline |
Chr13:32394727 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome 8 conditions Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760865 |
rs_1555289516 |
4 SubmittersRCV000568569RCV002483527RCV002526824 |
|
NM_000059.4(BRCA2):c.3737A>C (p.Asn1246Thr)
|
SNV Germline |
Chr13:32338092 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778131 |
rs_876660679 |
2 SubmittersRCV000565053 |
|
NM_000059.4(BRCA2):c.3800A>G (p.Asp1267Gly)
|
SNV Germline |
Chr13:32338155 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387778411 |
rs_1555283400 |
5 SubmittersRCV002261125RCV000574675RCV000700360RCV004000913 |
|
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser)
|
SNV Germline |
Chr13:32396917 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387762989 |
rs_1555289773 |
5 SubmittersRCV000571672RCV001002292RCV000709342RCV000989090 |
|
NM_000059.4(BRCA2):c.3894T>G (p.Ile1298Met)
|
SNV Germline |
Chr13:32338249 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778775 |
rs_41293487 |
3 SubmittersRCV000569610 |
|
NM_000059.4(BRCA2):c.3941A>G (p.Lys1314Arg)
|
SNV Germline |
Chr13:32338296 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387778872 |
rs_1344698119 |
5 SubmittersRCV000567669RCV001299283RCV001800762 |
|
NM_000059.4(BRCA2):c.7750G>T (p.Gly2584Cys)
|
SNV Germline |
Chr13:32357874 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387745750 |
rs_1555286436 |
2 SubmittersRCV000567951 |
|
NM_000059.4(BRCA2):c.7974C>T (p.Tyr2658=)
|
SNV Germline |
Chr13:32362691 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483261063 |
rs_80359025 |
3 SubmittersRCV002268176RCV000574689RCV001396043 |
|
NM_000059.4(BRCA2):c.8275G>T (p.Val2759Leu)
|
SNV Germline |
Chr13:32363477 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387750061 |
rs_1320594065 |
2 SubmittersRCV000564970RCV001066023 |
|
NM_000059.4(BRCA2):c.4113G>T (p.Gln1371His)
|
SNV Germline |
Chr13:32338468 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387779299 |
rs_1555283563 |
3 SubmittersRCV000566570RCV001358851 |
|
NM_000059.4(BRCA2):c.4390T>G (p.Ser1464Ala)
|
SNV Germline |
Chr13:32338745 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781088 |
rs_1555283760 |
3 SubmittersRCV000561437RCV001052613 |
|
NM_000059.4(BRCA2):c.4400A>G (p.His1467Arg)
|
SNV Germline |
Chr13:32338755 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA387781132 |
rs_1555283765 |
5 SubmittersRCV000576022RCV000807376RCV005010542 |
|
NM_000059.4(BRCA2):c.4430T>C (p.Ile1477Thr)
|
SNV Germline |
Chr13:32338785 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387781289 |
rs_1555283775 |
3 SubmittersRCV000564623RCV002250659 |
|
NM_000059.4(BRCA2):c.4447A>G (p.Thr1483Ala)
|
SNV Germline |
Chr13:32338802 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781364 |
rs_1555283789 |
3 SubmittersRCV000570051RCV003645042 |
|
NM_000059.4(BRCA2):c.4462C>T (p.His1488Tyr)
|
SNV Germline |
Chr13:32338817 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781418 |
rs_1555283795 |
3 SubmittersRCV000576055RCV000637316 |
|
NM_000059.4(BRCA2):c.4772G>C (p.Cys1591Ser)
|
SNV Germline |
Chr13:32339127 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783170 |
rs_1555283933 |
2 SubmittersRCV000564816 |
|
NM_000059.4(BRCA2):c.4832T>C (p.Val1611Ala)
|
SNV Germline |
Chr13:32339187 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783327 |
rs_1555283950 |
2 SubmittersRCV000574024 |
|
NM_000059.4(BRCA2):c.4856A>T (p.Asn1619Ile)
|
SNV Germline |
Chr13:32339211 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783409 |
rs_80358709 |
2 SubmittersRCV000575598 |
|
NM_000059.4(BRCA2):c.8494G>T (p.Glu2832Ter)
|
SNV Germline |
Chr13:32370962 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387752671 |
rs_876658951 |
1 SubmittersRCV000564565 |
|
NM_000059.4(BRCA2):c.5025T>A (p.Cys1675Ter)
|
SNV Germline |
Chr13:32339380 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387783971 |
rs_370591460 |
1 SubmittersRCV000566981 |
|
NM_000059.4(BRCA2):c.5062G>A (p.Glu1688Lys)
|
SNV Germline |
Chr13:32339417 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387784041 |
rs_1555284052 |
4 SubmittersRCV000573634RCV001065242RCV004000930 |
|
NM_000059.4(BRCA2):c.8600C>T (p.Thr2867Ile)
|
SNV Germline |
Chr13:32371068 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752887 |
rs_1555287785 |
3 SubmittersRCV000562393RCV004701664RCV001369600 |
|
NM_000059.4(BRCA2):c.8633-5C>G
|
SNV Germline |
Chr13:32376665 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA658656392 |
rs_1555288114 |
3 SubmittersRCV000568865RCV000985606RCV001858269 |
|
NM_000059.4(BRCA2):c.5165G>A (p.Ser1722Asn)
|
SNV Germline |
Chr13:32339520 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784251 |
rs_773707172 |
3 SubmittersRCV000566232 |
|
NM_000059.4(BRCA2):c.5240A>C (p.Asn1747Thr)
|
SNV Germline |
Chr13:32339595 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387784679 |
rs_1555284128 |
3 SubmittersRCV000567424RCV004000931 |
|
NM_000059.4(BRCA2):c.5285A>G (p.Tyr1762Cys)
|
SNV Germline |
Chr13:32339640 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387784770 |
rs_80358753 |
5 SubmittersRCV000567861RCV000818067RCV001821673 |
|
NM_000059.4(BRCA2):c.8744C>T (p.Ala2915Val)
|
SNV Germline |
Chr13:32376781 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA387755061 |
rs_1310128359 |
6 SubmittersRCV000572298RCV000706907RCV001358741RCV005367413 |
|
NM_000059.4(BRCA2):c.5437C>A (p.Leu1813Ile)
|
SNV Germline |
Chr13:32339792 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387785511 |
rs_1555284228 |
7 SubmittersRCV000563793RCV001359184RCV003313106RCV004596273RCV004802215 |
|
NM_000059.4(BRCA2):c.5462A>G (p.Lys1821Arg)
|
SNV Germline |
Chr13:32339817 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785647 |
rs_1555284238 |
3 SubmittersRCV000571216RCV003645043 |
|
NM_000059.4(BRCA2):c.5695G>A (p.Asp1899Asn)
|
SNV Germline |
Chr13:32340050 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940897 |
rs_371189402 |
5 SubmittersRCV000574011RCV001039196RCV001755941 |
|
NM_000059.4(BRCA2):c.5719T>G (p.Ser1907Ala)
|
SNV Germline |
Chr13:32340074 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940899 |
rs_753445027 |
4 SubmittersRCV000561520RCV001232076RCV005357633 |
|
NM_000059.4(BRCA2):c.5867A>T (p.Asp1956Val)
|
SNV Germline |
Chr13:32340222 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387787428 |
rs_1309562690 |
6 SubmittersRCV000563256RCV000637411RCV001584383 |
|
NM_000059.4(BRCA2):c.5909C>G (p.Ser1970Ter)
|
SNV Germline |
Chr13:32340264 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer |
Criteria Provided Single Submitter |
CA387787511 |
rs_80358824 |
2 SubmittersRCV000573759RCV001271042 |
|
NM_000059.4(BRCA2):c.6028G>A (p.Val2010Ile)
|
SNV Germline |
Chr13:32340383 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787775 |
rs_1555284504 |
2 SubmittersRCV000560979 |
|
NM_000059.4(BRCA2):c.9005A>G (p.Glu3002Gly)
|
SNV Germline |
Chr13:32379801 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387757453 |
rs_1555288459 |
2 SubmittersRCV000562479RCV005091298 |
|
NM_000059.4(BRCA2):c.9193T>G (p.Phe3065Val)
|
SNV Germline |
Chr13:32380082 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387758213 |
rs_1555288546 |
2 SubmittersRCV000567520RCV003645026 |
|
NM_000059.4(BRCA2):c.9198G>C (p.Gln3066His)
|
SNV Germline |
Chr13:32380087 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA6941353 |
rs_745758977 |
4 SubmittersRCV000563822RCV000694356RCV001534120RCV004569149 |
|
NM_000059.4(BRCA2):c.9229T>C (p.Phe3077Leu)
|
SNV Germline |
Chr13:32380118 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387758532 |
rs_1555288568 |
3 SubmittersRCV000563863RCV000626306RCV001867880 |
|
NM_000059.4(BRCA2):c.6165C>G (p.Phe2055Leu)
|
SNV Germline |
Chr13:32340520 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788338 |
rs_1555284579 |
4 SubmittersRCV000563091RCV005091372 |
|
NM_000059.4(BRCA2):c.6223A>T (p.Lys2075Ter)
|
SNV Germline |
Chr13:32340578 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387788877 |
rs_1555284602 |
1 SubmittersRCV000574787 |
|
NM_000059.4(BRCA2):c.6274C>T (p.Leu2092Phe)
|
SNV Germline |
Chr13:32340629 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788977 |
rs_587779365 |
2 SubmittersRCV000561948 |
|
NM_000059.4(BRCA2):c.6313A>C (p.Ile2105Leu)
|
SNV Germline |
Chr13:32340668 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789051 |
rs_397507368 |
3 SubmittersRCV000574796RCV000705138 |
|
NM_000059.4(BRCA2):c.9310A>T (p.Lys3104Ter)
|
SNV Germline |
Chr13:32394742 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387760919 |
rs_1555289521 |
2 SubmittersRCV000574188RCV001064553 |
|
NM_000059.4(BRCA2):c.9401G>A (p.Gly3134Asp)
|
SNV Germline |
Chr13:32394833 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761369 |
rs_80359215 |
2 SubmittersRCV000561600RCV001223704 |
|
NM_000059.4(BRCA2):c.9649-1G>C
|
SNV Germline |
Chr13:32398161 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387765050 |
rs_1555289898 |
2 SubmittersRCV000565099RCV005091375 |
|
NM_000059.4(BRCA2):c.6448A>C (p.Lys2150Gln)
|
SNV Germline |
Chr13:32340803 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387789324 |
rs_1403648108 |
8 SubmittersRCV000565008RCV000662567RCV001724066RCV001858157RCV005357659 |
|
NM_000059.4(BRCA2):c.6496G>T (p.Val2166Leu)
|
SNV Germline |
Chr13:32340851 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940964 |
rs_750084851 |
5 SubmittersRCV000566050RCV000686167RCV004000925 |
|
NM_000059.4(BRCA2):c.6506C>T (p.Thr2169Ile)
|
SNV Germline |
Chr13:32340861 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789560 |
rs_1555284726 |
4 SubmittersRCV000570270RCV000807789 |
|
NM_000059.4(BRCA2):c.6553G>C (p.Ala2185Pro)
|
SNV Germline |
Chr13:32340908 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Pancreatic cancer, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387789803 |
rs_746070652 |
9 SubmittersRCV000759644RCV000576075RCV001340607RCV001821657RCV005357632 |
|
NM_000059.4(BRCA2):c.6611C>T (p.Pro2204Leu)
|
SNV Germline |
Chr13:32340966 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790152 |
rs_1555284771 |
2 SubmittersRCV000570001 |
|
NM_000059.4(BRCA2):c.6646T>G (p.Ser2216Ala)
|
SNV Germline |
Chr13:32341001 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA247514266 |
rs_918816907 |
5 SubmittersRCV000568247RCV000699985RCV001824830 |
|
NM_000059.4(BRCA2):c.739A>G (p.Ile247Val)
|
SNV Germline |
Chr13:32330976 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760056 |
rs_1169190081 |
4 SubmittersRCV000564401RCV003492104RCV005091340 |
|
NM_000059.4(BRCA2):c.6650A>G (p.Lys2217Arg)
|
SNV Germline |
Chr13:32341005 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387790393 |
rs_1555284781 |
3 SubmittersRCV000575587RCV001318547 |
|
NM_000059.4(BRCA2):c.6712G>A (p.Asp2238Asn)
|
SNV Germline |
Chr13:32341067 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 |
Criteria Provided Conflicting Classifications |
CA6940976 |
rs_749590229 |
5 SubmittersRCV000564862RCV000700666RCV005409677 |
|
NM_000059.4(BRCA2):c.793+5G>A
|
SNV Germline |
Chr13:32331035 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940442 |
rs_779282053 |
2 SubmittersRCV000572419RCV000700583 |
|
NM_000059.4(BRCA2):c.1022G>A (p.Cys341Tyr)
|
SNV Germline |
Chr13:32332500 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387761127 |
rs_80358403 |
6 SubmittersRCV000575372RCV001230162RCV003441951RCV004001012 |
|
NM_000059.4(BRCA2):c.7121A>G (p.Asn2374Ser)
|
SNV Germline |
Chr13:32354974 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387738734 |
rs_1379054137 |
6 SubmittersRCV000575236RCV000804735RCV001591321RCV003233747 |
|
NM_000059.4(BRCA2):c.1196C>A (p.Thr399Asn)
|
SNV Germline |
Chr13:32332674 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762043 |
rs_1555281772 |
3 SubmittersRCV000564758RCV003645025 |
|
NM_000059.4(BRCA2):c.7435+4T>A
|
SNV Germline |
Chr13:32355292 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA658656423 |
rs_1555286131 |
2 SubmittersRCV000570194RCV001858263 |
|
NM_000059.4(BRCA2):c.7472A>G (p.Gln2491Arg)
|
SNV Germline |
Chr13:32356464 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247469683 |
rs_185012573 |
4 SubmittersRCV000567018RCV000819102RCV000781138RCV003328599 |
|
NM_000059.4(BRCA2):c.1628A>G (p.His543Arg)
|
SNV Germline |
Chr13:32333106 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764922 |
rs_1555281992 |
3 SubmittersRCV000570456RCV000691387 |
|
NM_000059.4(BRCA2):c.1741T>C (p.Ser581Pro)
|
SNV Germline |
Chr13:32333219 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA247498087 |
rs_55667299 |
4 SubmittersRCV000572100RCV001072032RCV004802191 |
|
NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter)
|
SNV Germline |
Chr13:32356562 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387743779 |
rs_1555286291 |
2 SubmittersRCV000561996RCV002265800 |
|
NM_000059.4(BRCA2):c.1991G>C (p.Gly664Ala)
|
SNV Germline |
Chr13:32336346 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768655 |
rs_1555282391 |
3 SubmittersRCV000575118RCV001224116 |
|
NM_000059.4(BRCA2):c.7882A>G (p.Ile2628Val)
|
SNV Germline |
Chr13:32362599 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387747110 |
rs_1483187442 |
6 SubmittersRCV000564484RCV000637732RCV001532893RCV003459320RCV004000932 |
|
NM_000059.4(BRCA2):c.2351T>G (p.Met784Arg)
|
SNV Germline |
Chr13:32336706 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771650 |
rs_1555282633 |
2 SubmittersRCV000562828 |
|
NM_000059.4(BRCA2):c.2543A>G (p.Lys848Arg)
|
SNV Germline |
Chr13:32336898 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387772508 |
rs_1555282739 |
4 SubmittersRCV000570148RCV001315218RCV004696948 |
|
NM_000059.4(BRCA2):c.2893A>G (p.Met965Val)
|
SNV Germline |
Chr13:32337248 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774131 |
rs_1555282927 |
3 SubmittersRCV000568564RCV000637340 |
|
NM_000059.4(BRCA2):c.2918C>G (p.Ser973Trp)
|
SNV Germline |
Chr13:32337273 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387774206 |
rs_397507296 |
4 SubmittersRCV000569352RCV001231889RCV003234563 |
|
NM_000059.4(BRCA2):c.8375T>G (p.Leu2792Arg)
|
SNV Germline |
Chr13:32370445 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752450 |
rs_28897751 |
2 SubmittersRCV000561173RCV001219386 |
|
NM_000059.4(BRCA2):c.8407C>T (p.Leu2803=)
|
SNV Germline |
Chr13:32370477 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA483261212 |
rs_1555287631 |
6 SubmittersRCV000561149RCV000604881RCV001483422RCV003478249RCV004001017 |
|
NM_000059.4(BRCA2):c.8554G>A (p.Ala2852Thr)
|
SNV Germline |
Chr13:32371022 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752784 |
rs_1555287769 |
3 SubmittersRCV000570948RCV001297064 |
|
NM_000059.4(BRCA2):c.8756G>A (p.Gly2919Asp)
|
SNV Germline |
Chr13:32379318 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387755702 |
rs_80359131 |
3 SubmittersRCV000562924RCV001284592RCV001041363 |
|
NM_000059.4(BRCA2):c.9377A>C (p.Gln3126Pro)
|
SNV Germline |
Chr13:32394809 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387761238 |
rs_397507426 |
4 SubmittersRCV000562173RCV001045140RCV003459346RCV004802232 |
|
NM_000059.4(BRCA2):c.9531A>G (p.Glu3177=)
|
SNV Germline |
Chr13:32396927 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483271601 |
rs_1555289774 |
3 SubmittersRCV000564601RCV000758979RCV002060390 |
|
NM_000059.4(BRCA2):c.3061G>C (p.Glu1021Gln)
|
SNV Germline |
Chr13:32337416 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775114 |
rs_1555283020 |
2 SubmittersRCV000571113 |
|
NM_000059.4(BRCA2):c.9573G>C (p.Trp3191Cys)
|
SNV Germline |
Chr13:32396969 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387763366 |
rs_398122617 |
3 SubmittersRCV000570986RCV003645037RCV005000263 |
|
NM_000059.4(BRCA2):c.3106G>A (p.Glu1036Lys)
|
SNV Germline |
Chr13:32337461 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775375 |
rs_1060502449 |
4 SubmittersRCV000566916RCV003441945RCV003645039 |
|
NM_000059.4(BRCA2):c.9919A>T (p.Lys3307Ter)
|
SNV Germline |
Chr13:32398432 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387767049 |
rs_1555290003 |
1 SubmittersRCV000564455 |
|
NM_000059.4(BRCA2):c.3116C>A (p.Pro1039His)
|
SNV Germline |
Chr13:32337471 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387775463 |
rs_867544010 |
3 SubmittersRCV000562928RCV003478228 |
|
NM_000059.4(BRCA2):c.3134T>C (p.Val1045Ala)
|
SNV Germline |
Chr13:32337489 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775735 |
rs_1555283061 |
3 SubmittersRCV000568190RCV002298673 |
|
NM_000059.4(BRCA2):c.3220A>G (p.Ser1074Gly)
|
SNV Germline |
Chr13:32337575 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775900 |
rs_145605603 |
3 SubmittersRCV000575509RCV005091295 |
|
NM_000059.4(BRCA2):c.3343T>C (p.Ser1115Pro)
|
SNV Germline |
Chr13:32337698 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387776321 |
rs_1204868565 |
6 SubmittersRCV000567148RCV001038261RCV001509438RCV004000928 |
|
NM_000059.4(BRCA2):c.3572A>G (p.Lys1191Arg)
|
SNV Germline |
Chr13:32337927 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387777339 |
rs_1555283292 |
3 SubmittersRCV000570876RCV003999533 |
|
NM_000059.4(BRCA2):c.3623T>C (p.Leu1208Ser)
|
SNV Germline |
Chr13:32337978 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777585 |
rs_1555283314 |
2 SubmittersRCV000563419 |
|
NM_000059.4(BRCA2):c.3971A>G (p.Tyr1324Cys)
|
SNV Germline |
Chr13:32338326 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778934 |
rs_1486461236 |
3 SubmittersRCV000568991RCV001345508 |
|
NM_000059.4(BRCA2):c.4050T>A (p.His1350Gln)
|
SNV Germline |
Chr13:32338405 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779106 |
rs_1359369718 |
2 SubmittersRCV000576084 |
|
NM_000059.4(BRCA2):c.4106C>T (p.Ser1369Phe)
|
SNV Germline |
Chr13:32338461 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387779280 |
rs_1555283554 |
3 SubmittersRCV000561231RCV000816953 |
|
NM_000059.4(BRCA2):c.4137G>T (p.Gln1379His)
|
SNV Germline |
Chr13:32338492 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387779399 |
rs_768918982 |
4 SubmittersRCV000573009RCV001362913 |
|
NM_000059.4(BRCA2):c.4405G>A (p.Asp1469Asn)
|
SNV Germline |
Chr13:32338760 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387781153 |
rs_1555283770 |
4 SubmittersRCV000569976RCV001867882RCV005601004 |
|
NM_000059.4(BRCA2):c.4411A>T (p.Arg1471Ter)
|
SNV Germline |
Chr13:32338766 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387781188 |
rs_1555283772 |
2 SubmittersRCV000574234RCV005231099 |
|
NM_000059.4(BRCA2):c.4543A>G (p.Lys1515Glu)
|
SNV Germline |
Chr13:32338898 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781755 |
rs_1555283834 |
4 SubmittersRCV000574586RCV000637547 |
|
NM_000059.4(BRCA2):c.4562T>G (p.Leu1521Arg)
|
SNV Germline |
Chr13:32338917 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781834 |
rs_1200198184 |
2 SubmittersRCV000565826 |
|
NM_000059.4(BRCA2):c.4888T>C (p.Ser1630Pro)
|
SNV Germline |
Chr13:32339243 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783515 |
rs_1555283977 |
3 SubmittersRCV000561809RCV001063299 |
|
NM_000059.4(BRCA2):c.5202A>C (p.Glu1734Asp)
|
SNV Germline |
Chr13:32339557 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387784594 |
rs_1243093278 |
6 SubmittersRCV000575961RCV000637330RCV001557187 |
|
NM_000059.4(BRCA2):c.5515G>A (p.Val1839Ile)
|
SNV Germline |
Chr13:32339870 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940881 |
rs_776630512 |
4 SubmittersRCV000574973RCV000637668RCV005620981 |
|
NM_000059.4(BRCA2):c.5533A>G (p.Arg1845Gly)
|
SNV Germline |
Chr13:32339888 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387785921 |
rs_1294545669 |
6 SubmittersRCV000561760RCV000806176RCV003478250RCV004001018 |
|
NM_000059.4(BRCA2):c.5578A>G (p.Lys1860Glu)
|
SNV Germline |
Chr13:32339933 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387786009 |
rs_431825332 |
5 SubmittersRCV000637562RCV000573798RCV004773000 |
|
NM_000059.4(BRCA2):c.5787T>G (p.Ile1929Met)
|
SNV Germline |
Chr13:32340142 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247511664 |
rs_765881070 |
2 SubmittersRCV000574262 |
|
NM_000059.4(BRCA2):c.5989A>G (p.Arg1997Gly)
|
SNV Germline |
Chr13:32340344 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787655 |
rs_1555284492 |
5 SubmittersRCV000561637RCV003330805RCV004001009RCV005091369 |
|
NM_000059.4(BRCA2):c.6100C>A (p.Arg2034Ser)
|
SNV Germline |
Chr13:32340455 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387788089 |
rs_1799954 |
4 SubmittersRCV000565684RCV001348335RCV001800763 |
|
NM_000059.4(BRCA2):c.6298C>A (p.Gln2100Lys)
|
SNV Germline |
Chr13:32340653 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940941 |
rs_746661607 |
4 SubmittersRCV000566896RCV000637615RCV002508231 |
|
NM_000059.4(BRCA2):c.6301A>C (p.Asn2101His)
|
SNV Germline |
Chr13:32340656 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387789027 |
rs_1430866716 |
5 SubmittersRCV000565803RCV001208948RCV004802225 |
|
NM_000059.4(BRCA2):c.6484A>T (p.Lys2162Ter)
|
SNV Germline |
Chr13:32340839 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387789461 |
rs_1555284717 |
1 SubmittersRCV000570000 |
|
NM_000059.4(BRCA2):c.6715G>C (p.Glu2239Gln)
|
SNV Germline |
Chr13:32341070 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387791014 |
rs_276174876 |
4 SubmittersRCV000573449RCV003645049 |
|
NM_000059.4(BRCA2):c.7435+2T>C
|
SNV Germline |
Chr13:32355290 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387742153 |
rs_1434072252 |
1 SubmittersRCV000562430 |
|
NM_000059.4(BRCA2):c.7477A>T (p.Met2493Leu)
|
SNV Germline |
Chr13:32356469 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387743260 |
rs_1064793329 |
4 SubmittersRCV000571269RCV001354552RCV003645032 |
|
NM_000059.4(BRCA2):c.7618-5T>C
|
SNV Germline |
Chr13:32357737 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA609453901 |
rs_1356264344 |
4 SubmittersRCV000564779RCV000944430RCV005000264RCV005407750 |
|
NM_000059.4(BRCA2):c.8164A>G (p.Thr2722Ala)
|
SNV Germline |
Chr13:32363366 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387749574 |
rs_1555287019 |
3 SubmittersRCV000561836RCV001213108RCV004787901 |
|
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)
|
SNV Germline |
Chr13:32363369 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749585 |
rs_41293511 |
5 SubmittersRCV000570332RCV001234934 |
|
NM_000059.4(BRCA2):c.8227G>C (p.Gly2743Arg)
|
SNV Germline |
Chr13:32363429 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749844 |
rs_397507397 |
2 SubmittersRCV000565433RCV003767123 |
|
NM_000059.4(BRCA2):c.8527A>C (p.Asn2843His)
|
SNV Germline |
Chr13:32370995 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387752728 |
rs_876660403 |
4 SubmittersRCV000573644RCV003530073RCV004569148 |
|
NM_000059.4(BRCA2):c.8774A>C (p.Gln2925Pro)
|
SNV Germline |
Chr13:32379336 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387755820 |
rs_80359135 |
2 SubmittersRCV001229209RCV000573292 |
|
NM_000059.4(BRCA2):c.8819A>G (p.Lys2940Arg)
|
SNV Germline |
Chr13:32379381 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA247493156 |
rs_200157227 |
4 SubmittersRCV000567588RCV001223923RCV003607319 |
|
NM_000059.4(BRCA2):c.9149A>T (p.Gln3050Leu)
|
SNV Germline |
Chr13:32380038 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387757897 |
rs_1555288535 |
5 SubmittersRCV000566712RCV000759686RCV001048049 |
|
NM_000059.4(BRCA2):c.9347C>A (p.Pro3116His)
|
SNV Germline |
Chr13:32394779 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387761074 |
rs_1220080934 |
2 SubmittersRCV000574097RCV000758974 |
|
NM_000059.4(BRCA2):c.9873T>C (p.Ser3291=)
|
SNV Germline |
Chr13:32398386 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA483440209 |
rs_1555289984 |
4 SubmittersRCV000562898RCV002060431RCV003478232RCV005240216 |
|
NM_000059.4(BRCA2):c.10084T>C (p.Phe3362Leu)
|
SNV Germline |
Chr13:32398597 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387767942 |
rs_1356012723 |
2 SubmittersRCV000572441RCV005056205 |
|
NM_000059.4(BRCA2):c.1753A>T (p.Lys585Ter)
|
SNV Germline |
Chr13:32333231 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387765514 |
rs_1555282048 |
2 SubmittersRCV000576622RCV001013014 |
|
NM_000059.4(BRCA2):c.1910-2A>T
|
SNV Germline |
Chr13:32336263 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387768195 |
rs_1228762581 |
2 SubmittersRCV000576839RCV001207879 |
|
NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter)
|
SNV Germline |
Chr13:32337044 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387773453 |
rs_979372317 |
4 SubmittersRCV000576646RCV001207149RCV000985486RCV002456272 |
|
NM_000059.4(BRCA2):c.9648+1G>A
|
SNV Germline |
Chr13:32397045 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387763856 |
rs_730881573 |
4 SubmittersRCV000576826RCV003767249RCV003159971 |
|
NM_000059.4(BRCA2):c.2299A>C (p.Ser767Arg)
|
SNV Germline |
Chr13:32336654 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA6940594 |
rs_750755676 |
9 SubmittersRCV000579867RCV000637714RCV001821696RCV002307553RCV005357723 |
|
NM_000059.4(BRCA2):c.4374T>A (p.His1458Gln)
|
SNV Germline |
Chr13:32338729 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781016 |
rs_1060504627 |
3 SubmittersRCV000580464RCV001360482 |
|
NM_000059.4(BRCA2):c.5954C>G (p.Ser1985Cys)
|
SNV Germline |
Chr13:32340309 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787597 |
rs_1272409475 |
2 SubmittersRCV000580535 |
|
NM_000059.4(BRCA2):c.6406T>A (p.Leu2136Ile)
|
SNV Germline |
Chr13:32340761 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789248 |
rs_1231977477 |
5 SubmittersRCV000579798RCV000758926RCV001340281 |
|
NM_000059.4(BRCA2):c.6707A>G (p.Glu2236Gly)
|
SNV Germline |
Chr13:32341062 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790974 |
rs_1555284803 |
2 SubmittersRCV000580327 |
|
NM_000059.4(BRCA2):c.7925T>G (p.Phe2642Cys)
|
SNV Germline |
Chr13:32362642 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387747198 |
rs_1287337540 |
4 SubmittersRCV000579474RCV002529091RCV003459419 |
|
NM_000059.4(BRCA2):c.142G>A (p.Glu48Lys)
|
SNV Germline |
Chr13:32319151 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387754264 |
rs_1555280354 |
5 SubmittersRCV000579736RCV001548511RCV004568262RCV005091468 |
|
NM_000059.4(BRCA2):c.8009C>G (p.Ser2670Trp)
|
SNV Germline |
Chr13:32363211 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387748738 |
rs_80359035 |
5 SubmittersRCV000579856RCV001212985RCV003886416 |
|
NM_000059.4(BRCA2):c.8213C>G (p.Ala2738Gly)
|
SNV Germline |
Chr13:32363415 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387749788 |
rs_1555287046 |
5 SubmittersRCV000579967RCV001357428RCV001860041RCV003459420 |
|
NM_000059.4(BRCA2):c.8971C>T (p.Arg2991Cys)
|
SNV Germline |
Chr13:32379767 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6941325 |
rs_751787816 |
5 SubmittersRCV000580285RCV000810854RCV004001247RCV005367431 |
|
NM_000059.4(BRCA2):c.1280A>G (p.Asp427Gly)
|
SNV Germline |
Chr13:32332758 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762430 |
rs_1555281813 |
2 SubmittersRCV000579912 |
|
NM_000059.4(BRCA2):c.1327G>A (p.Glu443Lys)
|
SNV Germline |
Chr13:32332805 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387762663 |
rs_397507579 |
4 SubmittersRCV000580108RCV001059334RCV001566908 |
|
NM_000059.4(BRCA2):c.1613G>A (p.Ser538Asn)
|
SNV Germline |
Chr13:32333091 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247497839 |
rs_994146384 |
5 SubmittersRCV000580001RCV001860038RCV002286761 |
|
NM_000059.4(BRCA2):c.3032C>T (p.Thr1011Ile)
|
SNV Germline |
Chr13:32337387 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774928 |
rs_80358548 |
4 SubmittersRCV000580124RCV001312598 |
|
NM_000059.4(BRCA2):c.3340C>T (p.Leu1114Phe)
|
SNV Germline |
Chr13:32337695 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Inherited breast cancer and ovarian cancer Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387776312 |
rs_1468014859 |
7 SubmittersRCV000580856RCV000816799RCV004781995RCV005000339RCV004001244 |
|
NM_000059.4(BRCA2):c.3368G>C (p.Ser1123Thr)
|
SNV Germline |
Chr13:32337723 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387776394 |
rs_1555283202 |
6 SubmittersRCV000581024RCV000706802RCV000985498 |
|
NM_000059.4(BRCA2):c.4331A>C (p.Asn1444Thr)
|
SNV Germline |
Chr13:32338686 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387780858 |
rs_587782661 |
4 SubmittersRCV000580803RCV002529090 |
|
NM_000059.4(BRCA2):c.6481G>C (p.Asp2161His)
|
SNV Germline |
Chr13:32340836 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789443 |
rs_1555284714 |
2 SubmittersRCV000580646 |
|
NM_000059.4(BRCA2):c.1799A>T (p.Tyr600Phe)
|
SNV Germline |
Chr13:32333277 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387765838 |
rs_397507276 |
8 SubmittersRCV000580594RCV000813386RCV003117346RCV004701675RCV004001242 |
|
NM_000059.4(BRCA2):c.2460T>G (p.Asp820Glu)
|
SNV Germline |
Chr13:32336815 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772324 |
rs_1555282686 |
2 SubmittersRCV000580423 |
|
NM_000059.4(BRCA2):c.6587A>G (p.Lys2196Arg)
|
SNV Germline |
Chr13:32340942 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA387790000 |
rs_1555284764 |
5 SubmittersRCV000580056RCV000796475RCV005010557 |
|
NM_000059.4(BRCA2):c.3300C>A (p.Asn1100Lys)
|
SNV Germline |
Chr13:32337655 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776166 |
rs_1555283155 |
2 SubmittersRCV000580709 |
|
NM_000059.4(BRCA2):c.6659A>G (p.Glu2220Gly)
|
SNV Germline |
Chr13:32341014 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387790440 |
rs_1555284784 |
5 SubmittersRCV000580214RCV003117347RCV001860039 |
|
NM_000059.4(BRCA2):c.5897A>T (p.His1966Leu)
|
SNV Germline |
Chr13:32340252 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787489 |
rs_80358823 |
4 SubmittersRCV000579681RCV003645057 |
|
NM_000059.4(BRCA2):c.6438T>G (p.Asn2146Lys)
|
SNV Germline |
Chr13:32340793 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789306 |
rs_1555284698 |
2 SubmittersRCV000579964 |
|
NM_000059.4(BRCA2):c.6709G>C (p.Asp2237His)
|
SNV Germline |
Chr13:32341064 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387790985 |
rs_1174104045 |
6 SubmittersRCV000581060RCV000758931RCV003316753RCV001853868 |
|
NM_000059.4(BRCA2):c.8689G>T (p.Ala2897Ser)
|
SNV Germline |
Chr13:32376726 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387754805 |
rs_1555288156 |
3 SubmittersRCV000579893RCV001226142 |
|
NM_000059.4(BRCA2):c.8485C>A (p.Gln2829Lys)
|
SNV Germline |
Chr13:32370555 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752644 |
rs_80359099 |
4 SubmittersRCV000579673RCV001194437RCV002529092 |
|
NM_000059.4(BRCA2):c.2261A>G (p.Gln754Arg)
|
SNV Germline |
Chr13:32336616 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771010 |
rs_56289428 |
2 SubmittersRCV000579609 |
|
NM_000059.4(BRCA2):c.2369A>T (p.Glu790Val)
|
SNV Germline |
Chr13:32336724 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771755 |
rs_1555282644 |
2 SubmittersRCV000579521 |
|
NM_000059.4(BRCA2):c.2591A>C (p.Gln864Pro)
|
SNV Germline |
Chr13:32336946 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387772610 |
rs_876659547 |
5 SubmittersRCV000581027RCV001853867RCV004001243 |
|
NM_000059.4(BRCA2):c.5209G>T (p.Asp1737Tyr)
|
SNV Germline |
Chr13:32339564 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784612 |
rs_1555284106 |
3 SubmittersRCV000579493 |
|
NM_000059.4(BRCA2):c.6337A>G (p.Asn2113Asp)
|
SNV Germline |
Chr13:32340692 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789096 |
rs_1555284644 |
2 SubmittersRCV000580870 |
|
NM_000059.4(BRCA2):c.7033C>G (p.Gln2345Glu)
|
SNV Germline |
Chr13:32354886 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387738116 |
rs_886040685 |
6 SubmittersRCV000579918RCV000805741RCV002289850RCV005000340RCV004001245 |
|
NM_000059.4(BRCA2):c.7955T>G (p.Val2652Gly)
|
SNV Germline |
Chr13:32362672 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387747262 |
rs_1555286868 |
5 SubmittersRCV001211134RCV004601208 |
|
NM_000059.4(BRCA2):c.1535C>T (p.Pro512Leu)
|
SNV Germline |
Chr13:32333013 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764606 |
rs_1184226464 |
2 SubmittersRCV000582228 |
|
NM_000059.4(BRCA2):c.1754A>G (p.Lys585Arg)
|
SNV Germline |
Chr13:32333232 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387765518 |
rs_1555282049 |
3 SubmittersRCV000582539RCV002529218 |
|
NM_000059.4(BRCA2):c.2054A>T (p.Asp685Val)
|
SNV Germline |
Chr13:32336409 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768987 |
rs_1555282420 |
5 SubmittersRCV000584011RCV002248797RCV001853909 |
|
NM_000059.4(BRCA2):c.2906A>G (p.Gln969Arg)
|
SNV Germline |
Chr13:32337261 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774180 |
rs_1555282933 |
2 SubmittersRCV000581262 |
|
NM_000059.4(BRCA2):c.2188A>G (p.Lys730Glu)
|
SNV Germline |
Chr13:32336543 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770416 |
rs_1555282510 |
2 SubmittersRCV000584171 |
|
NM_000059.4(BRCA2):c.2939A>G (p.Asp980Gly)
|
SNV Germline |
Chr13:32337294 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387774296 |
rs_1250767974 |
5 SubmittersRCV000582501RCV001044370RCV001764704 |
|
NM_000059.4(BRCA2):c.3371A>G (p.Gln1124Arg)
|
SNV Germline |
Chr13:32337726 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776402 |
rs_1555283204 |
2 SubmittersRCV000582305 |
|
NM_000059.4(BRCA2):c.3444G>C (p.Gln1148His)
|
SNV Germline |
Chr13:32337799 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387776646 |
rs_1555283240 |
3 SubmittersRCV000582591RCV004001319 |
|
NM_000059.4(BRCA2):c.3593A>G (p.Asn1198Ser)
|
SNV Germline |
Chr13:32337948 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940706 |
rs_780927790 |
4 SubmittersRCV000581441RCV005357743RCV005091498 |
|
NM_000059.4(BRCA2):c.3802T>A (p.Ser1268Thr)
|
SNV Germline |
Chr13:32338157 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940726 |
rs_751092504 |
3 SubmittersRCV000583146RCV001853910 |
|
NM_000059.4(BRCA2):c.3965A>G (p.Asn1322Ser)
|
SNV Germline |
Chr13:32338320 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778921 |
rs_80358646 |
3 SubmittersRCV000583801 |
|
NM_000059.4(BRCA2):c.4455A>G (p.Ile1485Met)
|
SNV Germline |
Chr13:32338810 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781390 |
rs_1555283791 |
2 SubmittersRCV000583323 |
|
NM_000059.4(BRCA2):c.4790C>A (p.Ser1597Tyr)
|
SNV Germline |
Chr13:32339145 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783236 |
rs_876660146 |
4 SubmittersRCV000584306RCV000800220 |
|
NM_000059.4(BRCA2):c.2761A>G (p.Ile921Val)
|
SNV Germline |
Chr13:32337116 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773662 |
rs_1555282836 |
4 SubmittersRCV000581752RCV001224864 |
|
NM_000059.4(BRCA2):c.4838C>T (p.Pro1613Leu)
|
SNV Germline |
Chr13:32339193 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387783344 |
rs_1360725610 |
4 SubmittersRCV000583819RCV004001322 |
|
NM_000059.4(BRCA2):c.3090C>G (p.Phe1030Leu)
|
SNV Germline |
Chr13:32337445 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940664 |
rs_756152752 |
4 SubmittersRCV000583902RCV000687547 |
|
NM_000059.4(BRCA2):c.3260C>T (p.Thr1087Ile)
|
SNV Germline |
Chr13:32337615 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387776013 |
rs_1555283123 |
7 SubmittersRCV000582950RCV001226691RCV003234785RCV004802267RCV005000347 |
|
NM_000059.4(BRCA2):c.3656T>C (p.Phe1219Ser)
|
SNV Germline |
Chr13:32338011 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387777964 |
rs_1555283341 |
5 SubmittersRCV000582706RCV001860074RCV003459439 |
|
NM_000059.4(BRCA2):c.3725G>A (p.Ser1242Asn)
|
SNV Germline |
Chr13:32338080 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778095 |
rs_1555283378 |
4 SubmittersRCV000584216RCV002529220 |
|
NM_000059.4(BRCA2):c.3870C>A (p.Cys1290Ter)
|
SNV Germline |
Chr13:32338225 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387778704 |
rs_1555283445 |
3 SubmittersRCV000582374RCV001390681RCV002298698 |
|
NM_000059.4(BRCA2):c.4109G>T (p.Gly1370Val)
|
SNV Germline |
Chr13:32338464 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779287 |
rs_587781406 |
3 SubmittersRCV000582735 |
|
NM_000059.4(BRCA2):c.4490T>C (p.Val1497Ala)
|
SNV Germline |
Chr13:32338845 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781541 |
rs_80358681 |
4 SubmittersRCV000582167RCV002298699 |
|
NM_000059.4(BRCA2):c.7924T>C (p.Phe2642Leu)
|
SNV Germline |
Chr13:32362641 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387747194 |
rs_1555286856 |
3 SubmittersRCV000583322RCV001860077 |
|
NM_000059.4(BRCA2):c.4919A>G (p.His1640Arg)
|
SNV Germline |
Chr13:32339274 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA247508683 |
rs_373483754 |
5 SubmittersRCV000583557RCV001223708RCV004586807 |
|
NM_000059.4(BRCA2):c.8620G>A (p.Glu2874Lys)
|
SNV Germline |
Chr13:32371088 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387752967 |
rs_397507996 |
4 SubmittersRCV000582840RCV001047615RCV004760633 |
|
NM_000059.4(BRCA2):c.8651A>T (p.Tyr2884Phe)
|
SNV Germline |
Chr13:32376688 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754683 |
rs_587781494 |
2 SubmittersRCV000584615 |
|
NM_000059.4(BRCA2):c.9502-9T>C
|
SNV Germline |
Chr13:32396889 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247507909 |
rs_372042471 |
3 SubmittersRCV000584180RCV002530791RCV003237951 |
|
NM_000059.4(BRCA2):c.631+13A>G
|
SNV Germline |
Chr13:32326626 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA658683827 |
rs_1555281112 |
4 SubmittersRCV000581787RCV000609415RCV001442350 |
|
NM_000059.4(BRCA2):c.1803A>C (p.Lys601Asn)
|
SNV Germline |
Chr13:32333281 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA6940542 |
rs_768106492 |
8 SubmittersRCV000583149RCV000637541RCV001556198RCV003493672RCV004525979 |
|
NM_000059.4(BRCA2):c.2279T>G (p.Leu760Ter)
|
SNV Germline |
Chr13:32336634 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387771129 |
rs_757410810 |
1 SubmittersRCV000584304 |
|
NM_000059.4(BRCA2):c.2728C>T (p.His910Tyr)
|
SNV Germline |
Chr13:32337083 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773593 |
rs_1555282812 |
4 SubmittersRCV000581736RCV005091497 |
|
NM_000059.4(BRCA2):c.8029G>T (p.Glu2677Ter)
|
SNV Germline |
Chr13:32363231 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387748934 |
rs_1555286958 |
2 SubmittersRCV000582544RCV001389053 |
|
NM_000059.4(BRCA2):c.2800G>A (p.Gly934Ser)
|
SNV Germline |
Chr13:32337155 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387773743 |
rs_1555282859 |
4 SubmittersRCV000584696RCV001821701 |
|
NM_000059.4(BRCA2):c.3220A>T (p.Ser1074Cys)
|
SNV Germline |
Chr13:32337575 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940679 |
rs_145605603 |
7 SubmittersRCV000582140RCV001051481RCV002250664RCV005250080RCV004802266 |
|
NM_000059.4(BRCA2):c.3769C>G (p.Pro1257Ala)
|
SNV Germline |
Chr13:32338124 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387778253 |
rs_1060502438 |
4 SubmittersRCV000581880RCV001800801 |
|
NM_000059.4(BRCA2):c.3847G>A (p.Val1283Ile)
|
SNV Germline |
Chr13:32338202 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940728 |
rs_754974533 |
7 SubmittersRCV000584376RCV000811572RCV004802269RCV004791609RCV005000348 |
|
NM_000059.4(BRCA2):c.9454G>T (p.Glu3152Ter)
|
SNV Germline |
Chr13:32394886 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387761663 |
rs_80359218 |
2 SubmittersRCV000582913RCV002530790 |
|
NM_000059.4(BRCA2):c.9604C>T (p.Pro3202Ser)
|
SNV Germline |
Chr13:32397000 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387763595 |
rs_1555289789 |
4 SubmittersRCV000582090RCV000691367RCV004001325 |
|
NM_000059.4(BRCA2):c.4113G>C (p.Gln1371His)
|
SNV Germline |
Chr13:32338468 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387779298 |
rs_1555283563 |
5 SubmittersRCV000581592RCV001232649RCV004802270 |
|
NM_000059.4(BRCA2):c.9983T>G (p.Phe3328Cys)
|
SNV Germline |
Chr13:32398496 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA6941460 |
rs_770826575 |
3 SubmittersRCV000582534RCV001058719RCV002289860 |
|
NM_000059.4(BRCA2):c.5054C>G (p.Ser1685Ter)
|
SNV Germline |
Chr13:32339409 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387784027 |
rs_398122791 |
2 SubmittersRCV000582926RCV000805797 |
|
NM_000059.4(BRCA2):c.5581A>G (p.Lys1861Glu)
|
SNV Germline |
Chr13:32339936 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786017 |
rs_1555284282 |
2 SubmittersRCV000581655 |
|
NM_000059.4(BRCA2):c.6488A>G (p.Gln2163Arg)
|
SNV Germline |
Chr13:32340843 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789478 |
rs_1555284720 |
3 SubmittersRCV000584465RCV001322275 |
|
NM_000059.4(BRCA2):c.6866T>G (p.Leu2289Ter)
|
SNV Germline |
Chr13:32344582 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387792695 |
rs_1555285146 |
3 SubmittersRCV000583617RCV005240233 |
|
NM_000059.4(BRCA2):c.9649-9T>G
|
SNV Germline |
Chr13:32398153 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Inherited breast cancer and ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6941436 |
rs_765352313 |
6 SubmittersRCV000581557RCV000759692RCV001174725RCV001084889RCV005240234RCV004001326 |
|
NM_000059.4(BRCA2):c.3497T>C (p.Val1166Ala)
|
SNV Germline |
Chr13:32337852 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940701 |
rs_762886975 |
6 SubmittersRCV000581934RCV001363535RCV003237950RCV004802268 |
|
NM_000059.4(BRCA2):c.3749A>T (p.Glu1250Val)
|
SNV Germline |
Chr13:32338104 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778179 |
rs_56400215 |
3 SubmittersRCV000583002RCV000824172 |
|
NM_000059.4(BRCA2):c.4441G>T (p.Glu1481Ter)
|
SNV Germline |
Chr13:32338796 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387781338 |
rs_1555283785 |
1 SubmittersRCV000583344 |
|
NM_000059.4(BRCA2):c.5770A>T (p.Ile1924Phe)
|
SNV Germline |
Chr13:32340125 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387787102 |
rs_779020831 |
5 SubmittersRCV000581357RCV001040894RCV003478313 |
|
NM_000059.4(BRCA2):c.6916G>C (p.Ala2306Pro)
|
SNV Germline |
Chr13:32344632 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast not specified |
Criteria Provided Conflicting Classifications |
CA387792911 |
rs_730881550 |
5 SubmittersRCV000583812RCV000800022RCV002289859RCV004596294 |
|
NM_000059.4(BRCA2):c.8104G>A (p.Glu2702Lys)
|
SNV Germline |
Chr13:32363306 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387749317 |
rs_186224762 |
5 SubmittersRCV000582650RCV000802730RCV001354239RCV001584401 |
|
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu)
|
SNV Germline |
Chr13:32370421 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752389 |
rs_80359076 |
4 SubmittersRCV000582573RCV001284109RCV003767300 |
|
NM_000059.4(BRCA2):c.9018C>G (p.Tyr3006Ter)
|
SNV Germline |
Chr13:32379814 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387757478 |
rs_80359154 |
3 SubmittersRCV000583561RCV001860079 |
|
NM_000059.4(BRCA2):c.3392G>A (p.Arg1131Lys)
|
SNV Germline |
Chr13:32337747 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776453 |
rs_1555283214 |
5 SubmittersRCV000585336RCV000678992 |
|
NM_000059.4(BRCA2):c.6592G>T (p.Glu2198Ter)
|
SNV Germline |
Chr13:32340947 |
Likely pathogenic |
Condition: not provided |
Criteria Provided Single Submitter |
CA387790035 |
rs_1555284766 |
1 SubmittersRCV000585419 |
|
NM_000059.4(BRCA2):c.682-1G>T
|
SNV Germline |
Chr13:32330918 |
Pathogenic |
Familial cancer of breast Gastric cancer |
Criteria Provided Single Submitter |
CA387759830 |
rs_81002831 |
2 SubmittersRCV000585687RCV003159987 |
|
NM_000059.4(BRCA2):c.-15A>T
|
SNV Germline |
Chr13:32316446 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA658683801 |
rs_138705202 |
3 SubmittersRCV000588555RCV001178828RCV001455508 |
|
NM_000059.4(BRCA2):c.1015G>A (p.Asp339Asn)
|
SNV Germline |
Chr13:32332493 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761101 |
rs_1555281693 |
3 SubmittersRCV000589057RCV002341498 |
|
NM_000059.4(BRCA2):c.1103C>G (p.Ser368Ter)
|
SNV Germline |
Chr13:32332581 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA387761567 |
rs_80358407 |
4 SubmittersRCV000590792RCV000661666RCV001017319 |
|
NM_000059.4(BRCA2):c.2734A>G (p.Thr912Ala)
|
SNV Germline |
Chr13:32337089 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773607 |
rs_1555282813 |
4 SubmittersRCV000585991RCV003157709RCV003530086 |
|
NM_000059.4(BRCA2):c.2895G>C (p.Met965Ile)
|
SNV Germline |
Chr13:32337250 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774143 |
rs_1555282929 |
2 SubmittersRCV000589006RCV003157710 |
|
NM_000059.4(BRCA2):c.4213A>G (p.Asn1405Asp)
|
SNV Germline |
Chr13:32338568 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780264 |
rs_1555283633 |
6 SubmittersRCV000587921RCV001042617RCV001821711RCV002331002 |
|
NM_000059.4(BRCA2):c.4288A>G (p.Thr1430Ala)
|
SNV Germline |
Chr13:32338643 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387780645 |
rs_1555283691 |
4 SubmittersRCV000588421RCV001022215RCV002530889 |
|
NM_000059.4(BRCA2):c.5260G>A (p.Asp1754Asn)
|
SNV Germline |
Chr13:32339615 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387784724 |
rs_771571938 |
5 SubmittersRCV000589225RCV000773243RCV003492113RCV005411496 |
|
NM_000059.4(BRCA2):c.5324T>C (p.Val1775Ala)
|
SNV Germline |
Chr13:32339679 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784908 |
rs_1555284172 |
2 SubmittersRCV000586877RCV003157716 |
|
NM_000059.4(BRCA2):c.6097A>G (p.Ile2033Val)
|
SNV Germline |
Chr13:32340452 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA6940928 |
rs_772846629 |
5 SubmittersRCV001242746RCV001024890RCV004002394RCV005431783 |
|
NM_000059.4(BRCA2):c.6131G>A (p.Gly2044Asp)
|
SNV Germline |
Chr13:32340486 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788208 |
rs_56191579 |
4 SubmittersRCV000590164RCV001024926RCV001867904 |
|
NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter)
|
SNV Germline |
Chr13:32355272 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387741973 |
rs_1555286120 |
2 SubmittersRCV000589473RCV003159990 |
|
NM_000059.4(BRCA2):c.8091C>A (p.Ser2697Arg)
|
SNV Germline |
Chr13:32363293 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387749268 |
rs_140782158 |
4 SubmittersRCV000586424RCV001050615RCV002420558 |
|
NM_000059.4(BRCA2):c.8639C>G (p.Thr2880Arg)
|
SNV Germline |
Chr13:32376676 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754629 |
rs_1555288123 |
2 SubmittersRCV000589917RCV004601209 |
|
NM_000059.4(BRCA2):c.9634G>A (p.Gly3212Arg)
|
SNV Germline |
Chr13:32397030 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387763767 |
rs_55775473 |
3 SubmittersRCV000586809RCV005091533 |
|
NM_000059.4(BRCA2):c.631+8T>C
|
SNV Germline |
Chr13:32326621 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA658683826 |
rs_1555281111 |
4 SubmittersRCV000588341RCV001086164RCV001181523RCV005407765 |
|
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)
|
SNV Germline |
Chr13:32332680 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387762066 |
rs_80358413 |
4 SubmittersRCV000587751RCV003139885RCV003471933 |
|
NM_000059.4(BRCA2):c.1648G>T (p.Glu550Ter)
|
SNV Germline |
Chr13:32333126 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387764993 |
rs_1555281999 |
1 SubmittersRCV000590498 |
|
NM_000059.4(BRCA2):c.2213G>A (p.Cys738Tyr)
|
SNV Germline |
Chr13:32336568 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387770594 |
rs_1219265131 |
6 SubmittersRCV000587463RCV001014811RCV002530888RCV004002392 |
|
NM_000059.4(BRCA2):c.2861A>G (p.Glu954Gly)
|
SNV Germline |
Chr13:32337216 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773978 |
rs_1555282915 |
4 SubmittersRCV000589506RCV000691430RCV002438521 |
|
NM_000059.4(BRCA2):c.3247A>G (p.Asn1083Asp)
|
SNV Germline |
Chr13:32337602 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775963 |
rs_777994248 |
4 SubmittersRCV000586777RCV003157711RCV003645071 |
|
NM_000059.4(BRCA2):c.3911C>G (p.Thr1304Ser)
|
SNV Germline |
Chr13:32338266 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778806 |
rs_1555283472 |
3 SubmittersRCV000588142RCV002377208 |
|
NM_000059.4(BRCA2):c.4218A>C (p.Lys1406Asn)
|
SNV Germline |
Chr13:32338573 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780291 |
rs_1555283634 |
2 SubmittersRCV000589622RCV003157713 |
|
NM_000059.4(BRCA2):c.5917A>C (p.Asn1973His)
|
SNV Germline |
Chr13:32340272 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787523 |
rs_1555284460 |
6 SubmittersRCV000587760RCV000791674RCV001024680 |
|
NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter)
|
SNV Germline |
Chr13:32340471 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387788150 |
rs_1555284559 |
2 SubmittersRCV000588279 |
|
NM_000059.4(BRCA2):c.6268C>T (p.His2090Tyr)
|
SNV Germline |
Chr13:32340623 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788967 |
rs_1405631299 |
6 SubmittersRCV000589502RCV000773071RCV001853971 |
|
NM_000059.4(BRCA2):c.6356A>T (p.Asn2119Ile)
|
SNV Germline |
Chr13:32340711 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789139 |
rs_1555284650 |
3 SubmittersRCV000586871RCV001853972RCV003157720 |
|
NM_000059.4(BRCA2):c.6744T>A (p.His2248Gln)
|
SNV Germline |
Chr13:32341099 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791117 |
rs_1555284842 |
5 SubmittersRCV000588646RCV001066930RCV001185319 |
|
NM_000059.4(BRCA2):c.6915G>A (p.Lys2305=)
|
SNV Germline |
Chr13:32344631 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA483275534 |
rs_1555285156 |
7 SubmittersRCV000587051RCV000929536RCV001025798RCV001448843RCV002272296RCV004802280 |
|
NM_000059.4(BRCA2):c.9102G>C (p.Gln3034His)
|
SNV Germline |
Chr13:32379898 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387757698 |
rs_1336395181 |
6 SubmittersRCV000586660RCV000777058RCV000795065RCV004002397 |
|
NM_000059.4(BRCA2):c.9152C>A (p.Pro3051Gln)
|
SNV Germline |
Chr13:32380041 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387757912 |
rs_1555288537 |
3 SubmittersRCV000588349RCV001018923RCV000820082 |
|
NM_000059.4(BRCA2):c.1254A>C (p.Ser418=)
|
SNV Germline |
Chr13:32332732 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483436508 |
rs_1052409595 |
4 SubmittersRCV000588164RCV000985462RCV002420557RCV003767324 |
|
NM_000059.4(BRCA2):c.2951A>G (p.Glu984Gly)
|
SNV Germline |
Chr13:32337306 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940647 |
rs_767964776 |
6 SubmittersRCV000586715RCV001867903RCV002255465 |
|
NM_000059.4(BRCA2):c.425+3A>G
|
SNV Germline |
Chr13:32325187 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA247487353 |
rs_932657676 |
9 SubmittersRCV001022141RCV000589863RCV003459452RCV001233483RCV005357773RCV005620994 |
|
NM_000059.4(BRCA2):c.3419G>A (p.Ser1140Asn)
|
SNV Germline |
Chr13:32337774 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387776510 |
rs_80358585 |
7 SubmittersRCV000589884RCV000704802RCV001020255RCV005401503 |
|
NM_000059.4(BRCA2):c.1816C>T (p.Pro606Ser)
|
SNV Germline |
Chr13:32333294 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766024 |
rs_765924757 |
6 SubmittersRCV000585914RCV000814790RCV002413663 |
|
NM_000059.4(BRCA2):c.1939T>C (p.Cys647Arg)
|
SNV Germline |
Chr13:32336294 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768352 |
rs_1555282367 |
6 SubmittersRCV000589864RCV001054194RCV001525794 |
|
NM_000059.4(BRCA2):c.4958C>T (p.Thr1653Ile)
|
SNV Germline |
Chr13:32339313 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783780 |
rs_1555284004 |
2 SubmittersRCV000588110RCV003157714 |
|
NM_000059.4(BRCA2):c.5284T>A (p.Tyr1762Asn)
|
SNV Germline |
Chr13:32339639 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784767 |
rs_1192019733 |
2 SubmittersRCV000586184RCV003157715 |
|
NM_000059.4(BRCA2):c.5301A>G (p.Lys1767=)
|
SNV Germline |
Chr13:32339656 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483438587 |
rs_1555284161 |
5 SubmittersRCV000586078RCV000975507RCV001023889RCV005000359 |
|
NM_000059.4(BRCA2):c.3403T>G (p.Tyr1135Asp)
|
SNV Germline |
Chr13:32337758 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776475 |
rs_80358583 |
3 SubmittersRCV000587081RCV002456281 |
|
NM_000059.4(BRCA2):c.3743G>T (p.Ser1248Ile)
|
SNV Germline |
Chr13:32338098 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778156 |
rs_1555283383 |
2 SubmittersRCV000590101RCV003157712 |
|
NM_000059.4(BRCA2):c.5537T>G (p.Ile1846Arg)
|
SNV Germline |
Chr13:32339892 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785930 |
rs_763330257 |
2 SubmittersRCV000590007RCV003157717 |
|
NM_000059.4(BRCA2):c.4429A>G (p.Ile1477Val)
|
SNV Germline |
Chr13:32338784 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387781283 |
rs_1159807733 |
7 SubmittersRCV000586178RCV000637705RCV001022464RCV004002393RCV005000358 |
|
NM_000059.4(BRCA2):c.8291C>T (p.Ala2764Val)
|
SNV Germline |
Chr13:32363493 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387750132 |
rs_1555287074 |
2 SubmittersRCV000588577RCV001027368 |
|
NM_000059.4(BRCA2):c.5734G>A (p.Glu1912Lys)
|
SNV Germline |
Chr13:32340089 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786929 |
rs_397507800 |
3 SubmittersRCV000588009RCV001853970RCV003157718 |
|
NM_000059.4(BRCA2):c.5867A>G (p.Asp1956Gly)
|
SNV Germline |
Chr13:32340222 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787427 |
rs_1309562690 |
6 SubmittersRCV000589077RCV001051475RCV003157719 |
|
NM_000059.4(BRCA2):c.9839C>G (p.Pro3280Arg)
|
SNV Germline |
Chr13:32398352 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766409 |
rs_80359246 |
4 SubmittersRCV000588196RCV000704666RCV003321691RCV002384281 |
|
NM_000059.4(BRCA2):c.6433A>C (p.Asn2145His)
|
SNV Germline |
Chr13:32340788 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789294 |
rs_1555284690 |
2 SubmittersRCV000587687RCV003157721 |
|
NM_000059.4(BRCA2):c.6454T>A (p.Ser2152Thr)
|
SNV Germline |
Chr13:32340809 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789336 |
rs_1555284705 |
3 SubmittersRCV000587208RCV002304217RCV003157722 |
|
NM_000059.4(BRCA2):c.6760T>C (p.Phe2254Leu)
|
SNV Germline |
Chr13:32341115 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791178 |
rs_1555284847 |
5 SubmittersRCV000590351RCV001001315RCV000701143RCV003157723 |
|
NM_000059.4(BRCA2):c.7007+53G>A
|
SNV Germline |
Chr13:32346949 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA247519786 |
rs_56014558 |
6 SubmittersRCV000611264RCV001511262RCV000732059RCV002256414RCV004533250 |
|
NM_000059.4(BRCA2):c.9087G>T (p.Ala3029=)
|
SNV Germline |
Chr13:32379883 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA483439884 |
rs_368576266 |
4 SubmittersRCV000604018RCV002448851RCV003767465RCV004002492 |
|
NM_000059.4(BRCA2):c.-56C>A
|
SNV Germline |
Chr13:32315651 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA658798079 |
rs_1555279958 |
2 SubmittersRCV000605195RCV001854149 |
|
NM_000059.4(BRCA2):c.476-11T>C
|
SNV Germline |
Chr13:32326231 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA658798099 |
rs_1555280973 |
5 SubmittersRCV000772392RCV001447673RCV001712688RCV004002605 |
|
NM_000059.4(BRCA2):c.7595C>T (p.Pro2532Leu)
|
SNV Germline |
Chr13:32356587 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387743924 |
rs_967458408 |
3 SubmittersRCV000606559RCV001308784RCV001026600 |
|
NM_000059.4(BRCA2):c.7618-3T>C
|
SNV Germline |
Chr13:32357739 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA658798120 |
rs_1555286385 |
3 SubmittersRCV000606784RCV001368759RCV005520313 |
|
NM_000059.4(BRCA2):c.5388T>C (p.Asp1796=)
|
SNV Germline |
Chr13:32339743 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483438684 |
rs_1555284205 |
5 SubmittersRCV000608482RCV000979782RCV001024015RCV005000382 |
|
NM_000059.4(BRCA2):c.516+2T>G
|
SNV Germline |
Chr13:32326284 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387757755 |
rs_397507764 |
3 SubmittersRCV000610710 |
|
NM_000059.4(BRCA2):c.9649-1G>T
|
SNV Germline |
Chr13:32398161 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Multiple Submitters No Conflicts |
CA387765053 |
rs_1555289898 |
6 SubmittersRCV000600110RCV001724086RCV002528808RCV004807036 |
|
NM_000059.4(BRCA2):c.2399G>A (p.Gly800Asp)
|
SNV Germline |
Chr13:32336754 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA387771962 |
rs_276174821 |
7 SubmittersRCV000624979RCV001296661RCV001692232RCV003157738RCV005010596 |
|
NM_000059.4(BRCA2):c.3845C>T (p.Thr1282Ile)
|
SNV Germline |
Chr13:32338200 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387778591 |
rs_1555283423 |
7 SubmittersRCV000624982RCV000692781RCV002360483RCV004802304 |
|
NM_000059.4(BRCA2):c.6757C>G (p.Leu2253Val)
|
SNV Germline |
Chr13:32341112 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791166 |
rs_1555284846 |
5 SubmittersRCV000624985RCV001529424RCV002360484 |
|
NM_000059.4(BRCA2):c.893C>T (p.Thr298Ile)
|
SNV Germline |
Chr13:32332371 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940474 |
rs_753067824 |
5 SubmittersRCV000625270RCV001821762RCV001692236RCV003157739 |
|
NM_000059.4(BRCA2):c.6661A>T (p.Asn2221Tyr)
|
SNV Germline |
Chr13:32341016 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790452 |
rs_1555284785 |
4 SubmittersRCV000625271RCV001692237RCV001303623RCV003157740 |
|
NM_000059.4(BRCA2):c.331A>G (p.Asn111Asp)
|
SNV Germline |
Chr13:32325090 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387756534 |
rs_1555280839 |
3 SubmittersRCV000625753RCV001564741RCV003645078 |
|
NM_000059.4(BRCA2):c.5081G>T (p.Arg1694Ile)
|
SNV Germline |
Chr13:32339436 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784081 |
rs_753721331 |
2 SubmittersRCV000625751RCV003157741 |
|
NM_000059.4(BRCA2):c.2063A>G (p.Tyr688Cys)
|
SNV Germline |
Chr13:32336418 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Melanoma Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247500518 |
rs_28897713 |
5 SubmittersRCV000807590RCV000626573RCV000772733 |
|
NM_000059.4(BRCA2):c.5126A>G (p.Asp1709Gly)
|
SNV Germline |
Chr13:32339481 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387784165 |
rs_786202836 |
6 SubmittersRCV000627120RCV000637544RCV004002760RCV001764746 |
|
NM_000059.4(BRCA2):c.1388C>G (p.Thr463Arg)
|
SNV Germline |
Chr13:32332866 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6940517 |
rs_151011453 |
4 SubmittersRCV000637561RCV001011217RCV003330856 |
|
NM_000059.4(BRCA2):c.1910-6G>A
|
SNV Germline |
Chr13:32336259 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA658798095 |
rs_1555282344 |
2 SubmittersRCV000637995RCV000658674 |
|
NM_000059.4(BRCA2):c.2035A>G (p.Asn679Asp)
|
SNV Germline |
Chr13:32336390 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768900 |
rs_786202617 |
4 SubmittersRCV000772334RCV000637405 |
|
NM_000059.4(BRCA2):c.475+2T>A
|
SNV Germline |
Chr13:32326152 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387757263 |
rs_1555280966 |
1 SubmittersRCV000637465 |
|
NM_000059.4(BRCA2):c.809C>T (p.Ser270Leu)
|
SNV Germline |
Chr13:32332287 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387760390 |
rs_276174902 |
5 SubmittersRCV000637717RCV000772854RCV003238794 |
|
NM_000059.4(BRCA2):c.959T>C (p.Leu320Pro)
|
SNV Germline |
Chr13:32332437 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387760880 |
rs_1334767632 |
4 SubmittersRCV000637613RCV002386029RCV003607339 |
|
NM_000059.4(BRCA2):c.2306T>C (p.Leu769Pro)
|
SNV Germline |
Chr13:32336661 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771352 |
rs_1555282603 |
2 SubmittersRCV000637727RCV003157791 |
|
NM_000059.4(BRCA2):c.1186T>A (p.Ser396Thr)
|
SNV Germline |
Chr13:32332664 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762004 |
rs_1555281765 |
2 SubmittersRCV000637756RCV003157796 |
|
NM_000059.4(BRCA2):c.1234C>T (p.Pro412Ser)
|
SNV Germline |
Chr13:32332712 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762204 |
rs_1555281787 |
3 SubmittersRCV000637474RCV001010473 |
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
SNV Germline |
Chr13:32332995 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome 8 conditions Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387764543 |
rs_1249900164 |
5 SubmittersRCV000637551RCV002492982RCV002388048RCV001570107 |
|
NM_000059.4(BRCA2):c.1551T>A (p.Asn517Lys)
|
SNV Germline |
Chr13:32333029 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764664 |
rs_760647691 |
2 SubmittersRCV000637356RCV003157748 |
|
NM_000059.4(BRCA2):c.2398G>T (p.Gly800Cys)
|
SNV Germline |
Chr13:32336753 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771953 |
rs_431825297 |
3 SubmittersRCV000637446RCV003157755 |
|
NM_000059.4(BRCA2):c.1588A>G (p.Lys530Glu)
|
SNV Germline |
Chr13:32333066 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764787 |
rs_879255325 |
3 SubmittersRCV000637813RCV003157801 |
|
NM_000059.4(BRCA2):c.3284A>G (p.Gln1095Arg)
|
SNV Germline |
Chr13:32337639 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776104 |
rs_1555283143 |
2 SubmittersRCV000637692RCV003157788 |
|
NM_000059.4(BRCA2):c.3475T>C (p.Cys1159Arg)
|
SNV Germline |
Chr13:32337830 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776824 |
rs_886037814 |
5 SubmittersRCV000637617RCV000989022RCV001186730 |
|
NM_000059.4(BRCA2):c.1882C>T (p.Pro628Ser)
|
SNV Germline |
Chr13:32333360 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766670 |
rs_1163156807 |
6 SubmittersRCV000781045RCV000637807RCV000758869RCV002406371 |
|
NM_000059.4(BRCA2):c.3885A>C (p.Gln1295His)
|
SNV Germline |
Chr13:32338240 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778752 |
rs_876659864 |
3 SubmittersRCV000637593RCV003157771 |
|
NM_000059.4(BRCA2):c.4033G>A (p.Asp1345Asn)
|
SNV Germline |
Chr13:32338388 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387779070 |
rs_1555283516 |
3 SubmittersRCV002325232RCV000637578 |
|
NM_000059.4(BRCA2):c.2468C>A (p.Ala823Asp)
|
SNV Germline |
Chr13:32336823 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772354 |
rs_1555282694 |
2 SubmittersRCV003157799RCV000637787 |
|
NM_000059.4(BRCA2):c.2627A>G (p.Asn876Ser)
|
SNV Germline |
Chr13:32336982 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247502734 |
rs_997313713 |
6 SubmittersRCV002424404RCV000985484RCV000637455 |
|
NM_000059.4(BRCA2):c.4359A>T (p.Lys1453Asn)
|
SNV Germline |
Chr13:32338714 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780960 |
rs_774446640 |
2 SubmittersRCV000637488RCV003157760 |
|
NM_000059.4(BRCA2):c.2998A>G (p.Ile1000Val)
|
SNV Germline |
Chr13:32337353 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774656 |
rs_1555282999 |
4 SubmittersRCV003478361RCV003157768RCV000637546 |
|
NM_000059.4(BRCA2):c.5392A>G (p.Asn1798Asp)
|
SNV Germline |
Chr13:32339747 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785272 |
rs_1555284208 |
4 SubmittersRCV000637775RCV001186733 |
|
NM_000059.4(BRCA2):c.5606G>A (p.Ser1869Asn)
|
SNV Germline |
Chr13:32339961 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387786072 |
rs_1555284296 |
5 SubmittersRCV000637799RCV001024317RCV002268228 |
|
NM_000059.4(BRCA2):c.3409T>A (p.Leu1137Met)
|
SNV Germline |
Chr13:32337764 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247504958 |
rs_1054724641 |
4 SubmittersRCV000637336RCV004702228RCV003157746 |
|
NM_000059.4(BRCA2):c.3463A>C (p.Thr1155Pro)
|
SNV Germline |
Chr13:32337818 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776750 |
rs_1555283257 |
3 SubmittersRCV000637456RCV002334085 |
|
NM_000059.4(BRCA2):c.5902T>C (p.Ser1968Pro)
|
SNV Germline |
Chr13:32340257 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787498 |
rs_1555284455 |
4 SubmittersRCV000637778RCV001186734 |
|
NM_000059.4(BRCA2):c.3481G>A (p.Asp1161Asn)
|
SNV Germline |
Chr13:32337836 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776859 |
rs_1555283261 |
3 SubmittersRCV000637777RCV004003851RCV003157797 |
|
NM_000059.4(BRCA2):c.4094G>C (p.Cys1365Ser)
|
SNV Germline |
Chr13:32338449 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779231 |
rs_80358657 |
3 SubmittersRCV000637712RCV002325233 |
|
NM_000059.4(BRCA2):c.4162A>C (p.Thr1388Pro)
|
SNV Germline |
Chr13:32338517 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780044 |
rs_1555283603 |
2 SubmittersRCV000637738RCV003157793 |
|
NM_000059.4(BRCA2):c.4545G>T (p.Lys1515Asn)
|
SNV Germline |
Chr13:32338900 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781765 |
rs_1555283835 |
2 SubmittersRCV003157770RCV000637587 |
|
NM_000059.4(BRCA2):c.4749T>G (p.Ile1583Met)
|
SNV Germline |
Chr13:32339104 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783080 |
rs_1555283929 |
2 SubmittersRCV000637647RCV003157779 |
|
NM_000059.4(BRCA2):c.4889C>T (p.Ser1630Leu)
|
SNV Germline |
Chr13:32339244 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783518 |
rs_80358711 |
3 SubmittersRCV000637475RCV003157759 |
|
NM_000059.4(BRCA2):c.6731A>G (p.Lys2244Arg)
|
SNV Germline |
Chr13:32341086 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791074 |
rs_1555284837 |
2 SubmittersRCV000637804RCV003157800 |
|
NM_000059.4(BRCA2):c.6782A>G (p.Glu2261Gly)
|
SNV Germline |
Chr13:32341137 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791272 |
rs_1555284854 |
2 SubmittersRCV000637558RCV003157769 |
|
NM_000059.4(BRCA2):c.5271T>A (p.Tyr1757Ter)
|
SNV Germline |
Chr13:32339626 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387784744 |
rs_1555284139 |
3 SubmittersRCV001023837RCV003234786RCV000637580 |
|
NM_000059.4(BRCA2):c.5459G>C (p.Cys1820Ser)
|
SNV Germline |
Chr13:32339814 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785631 |
rs_1555284235 |
2 SubmittersRCV000637622RCV003157776 |
|
NM_000059.4(BRCA2):c.5851A>G (p.Ser1951Gly)
|
SNV Germline |
Chr13:32340206 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787395 |
rs_1212547389 |
3 SubmittersRCV000637445RCV003493687RCV003157754 |
|
NM_000059.4(BRCA2):c.5884A>G (p.Ile1962Val)
|
SNV Germline |
Chr13:32340239 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940908 |
rs_747406932 |
4 SubmittersRCV000637377RCV000656611RCV002358791 |
|
NM_000059.4(BRCA2):c.5890A>C (p.Lys1964Gln)
|
SNV Germline |
Chr13:32340245 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787475 |
rs_1555284445 |
2 SubmittersRCV000637633RCV003157777 |
|
NM_000059.4(BRCA2):c.6278A>T (p.His2093Leu)
|
SNV Germline |
Chr13:32340633 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788986 |
rs_1218113889 |
3 SubmittersRCV000637524RCV002358792 |
|
NM_000059.4(BRCA2):c.7007+2T>C
|
SNV Germline |
Chr13:32346898 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387793208 |
rs_886040937 |
4 SubmittersRCV001724110RCV000637553RCV002377382 |
|
NM_000059.4(BRCA2):c.7008C>A (p.Arg2336=)
|
SNV Germline |
Chr13:32354861 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483275974 |
rs_1555285975 |
2 SubmittersRCV000637897RCV004723007 |
|
NM_000059.4(BRCA2):c.8562T>A (p.Tyr2854Ter)
|
SNV Germline |
Chr13:32371030 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387752802 |
rs_786201333 |
2 SubmittersRCV000637354RCV003303008 |
|
NM_000059.4(BRCA2):c.9151C>A (p.Pro3051Thr)
|
SNV Germline |
Chr13:32380040 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757909 |
rs_1555288536 |
3 SubmittersRCV000637791RCV004802317RCV005532709 |
|
NM_000059.4(BRCA2):c.10114G>A (p.Ala3372Thr)
|
SNV Germline |
Chr13:32398627 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768044 |
rs_1555290046 |
3 SubmittersRCV000637769RCV004003850RCV003303010 |
|
NM_000059.4(BRCA2):c.516+2T>C
|
SNV Germline |
Chr13:32326284 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387757754 |
rs_397507764 |
2 SubmittersRCV000637550 |
|
NM_000059.4(BRCA2):c.899T>G (p.Val300Gly)
|
SNV Germline |
Chr13:32332377 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760677 |
rs_1555281625 |
2 SubmittersRCV000637733RCV003157792 |
|
NM_000059.4(BRCA2):c.1052A>T (p.Lys351Ile)
|
SNV Germline |
Chr13:32332530 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761288 |
rs_1555281710 |
3 SubmittersRCV000637696RCV001186732 |
|
NM_000059.4(BRCA2):c.1415A>G (p.Gln472Arg)
|
SNV Germline |
Chr13:32332893 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764207 |
rs_1555281903 |
2 SubmittersRCV000637543RCV003157767 |
|
NM_000059.4(BRCA2):c.1436A>C (p.Asp479Ala)
|
SNV Germline |
Chr13:32332914 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764286 |
rs_1555281910 |
2 SubmittersRCV000637335RCV003157745 |
|
NM_000059.4(BRCA2):c.1490C>G (p.Ser497Ter)
|
SNV Germline |
Chr13:32332968 |
Pathogenic |
Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387764450 |
rs_1064794018 |
4 SubmittersRCV000637545RCV004802312RCV000774812 |
|
NM_000059.4(BRCA2):c.1594G>C (p.Glu532Gln)
|
SNV Germline |
Chr13:32333072 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940529 |
rs_138734772 |
3 SubmittersRCV000637607RCV003157774 |
|
NM_000059.4(BRCA2):c.1728T>A (p.Asn576Lys)
|
SNV Germline |
Chr13:32333206 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765371 |
rs_1555282035 |
4 SubmittersRCV000637460RCV002509483RCV002406369 |
|
NM_000059.4(BRCA2):c.1820A>G (p.Lys607Arg)
|
SNV Germline |
Chr13:32333298 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387766073 |
rs_55962656 |
6 SubmittersRCV001013305RCV001823155RCV001844207RCV004003848RCV000637739 |
|
NM_000059.4(BRCA2):c.2836G>T (p.Asp946Tyr)
|
SNV Germline |
Chr13:32337191 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387773871 |
rs_80358534 |
3 SubmittersRCV000637458RCV003157757RCV005000417 |
|
NM_000059.4(BRCA2):c.2842G>A (p.Val948Ile)
|
SNV Germline |
Chr13:32337197 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773896 |
rs_1555282901 |
4 SubmittersRCV000637414RCV001016754 |
|
NM_000059.4(BRCA2):c.3002C>G (p.Ser1001Ter)
|
SNV Germline |
Chr13:32337357 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387774682 |
rs_1555283001 |
3 SubmittersRCV000637719RCV002469227RCV003352955 |
|
NM_000059.4(BRCA2):c.3184C>T (p.Pro1062Ser)
|
SNV Germline |
Chr13:32337539 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387775836 |
rs_1555283083 |
4 SubmittersRCV001019046RCV000637707RCV004003847 |
|
NM_000059.4(BRCA2):c.3323A>C (p.Lys1108Thr)
|
SNV Germline |
Chr13:32337678 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA6940687 |
rs_765232270 |
5 SubmittersRCV000637783RCV003338700RCV003157798RCV005357846 |
|
NM_000059.4(BRCA2):c.3472G>A (p.Glu1158Lys)
|
SNV Germline |
Chr13:32337827 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776802 |
rs_1555283258 |
2 SubmittersRCV003157764RCV000637537 |
|
NM_000059.4(BRCA2):c.3610G>T (p.Ala1204Ser)
|
SNV Germline |
Chr13:32337965 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387777536 |
rs_1555283309 |
5 SubmittersRCV000637609RCV002458024RCV003144409 |
|
NM_000059.4(BRCA2):c.4327T>C (p.Phe1443Leu)
|
SNV Germline |
Chr13:32338682 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387780838 |
rs_1555283725 |
5 SubmittersRCV000637649RCV003157780RCV005357844RCV004808816 |
|
NM_000059.4(BRCA2):c.4337T>C (p.Ile1446Thr)
|
SNV Germline |
Chr13:32338692 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780878 |
rs_1555283730 |
3 SubmittersRCV000637694RCV000758895RCV003157789 |
|
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)
|
SNV Germline |
Chr13:32338751 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome 8 conditions Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387781117 |
rs_1555283763 |
5 SubmittersRCV000637538RCV002499068RCV003157765RCV004003844RCV005000418 |
|
NM_000059.4(BRCA2):c.4454T>G (p.Ile1485Arg)
|
SNV Germline |
Chr13:32338809 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781386 |
rs_1555283790 |
6 SubmittersRCV000985526RCV000989030RCV002331145RCV000637514 |
|
NM_000059.4(BRCA2):c.4501A>T (p.Asn1501Tyr)
|
SNV Germline |
Chr13:32338856 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781582 |
rs_1555283811 |
2 SubmittersRCV000637512RCV003157762 |
|
NM_000059.4(BRCA2):c.4789T>G (p.Ser1597Ala)
|
SNV Germline |
Chr13:32339144 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783235 |
rs_1555283935 |
3 SubmittersRCV000637772RCV002334089 |
|
NM_000059.4(BRCA2):c.4900T>C (p.Phe1634Leu)
|
SNV Germline |
Chr13:32339255 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783553 |
rs_1555283982 |
2 SubmittersRCV000637663RCV003157783 |
|
NM_000059.4(BRCA2):c.4952C>G (p.Pro1651Arg)
|
SNV Germline |
Chr13:32339307 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783762 |
rs_565268514 |
5 SubmittersRCV000637644RCV001192450RCV003157778 |
|
NM_000059.4(BRCA2):c.5432A>C (p.Glu1811Ala)
|
SNV Germline |
Chr13:32339787 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387785483 |
rs_1555284221 |
5 SubmittersRCV000637592RCV001186729RCV004003845 |
|
NM_000059.4(BRCA2):c.5872T>C (p.Cys1958Arg)
|
SNV Germline |
Chr13:32340227 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787438 |
rs_1555284436 |
2 SubmittersRCV000637594RCV003157772 |
|
NM_000059.4(BRCA2):c.6415G>T (p.Glu2139Ter)
|
SNV Germline |
Chr13:32340770 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome 8 conditions |
Criteria Provided Multiple Submitters No Conflicts |
CA387789266 |
rs_763639231 |
2 SubmittersRCV000637421RCV005010618 |
|
NM_000059.4(BRCA2):c.8098A>G (p.Ile2700Val)
|
SNV Germline |
Chr13:32363300 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6941187 |
rs_80359053 |
4 SubmittersRCV000637425RCV000773103RCV004802311 |
|
NM_000059.4(BRCA2):c.8332-2A>C
|
SNV Germline |
Chr13:32370400 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387752308 |
rs_587782774 |
2 SubmittersRCV000637339RCV005306107 |
|
NM_000059.4(BRCA2):c.328C>A (p.Pro110Thr)
|
SNV Germline |
Chr13:32325087 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387756520 |
rs_1555280838 |
3 SubmittersRCV000637426RCV001019705RCV004777786 |
|
NM_000059.4(BRCA2):c.8713T>C (p.Tyr2905His)
|
SNV Germline |
Chr13:32376750 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387754916 |
rs_1555288170 |
5 SubmittersRCV000637750RCV003478363RCV004601231RCV004802316 |
|
NM_000059.4(BRCA2):c.681T>C (p.Ala227=)
|
SNV Germline |
Chr13:32329492 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483274260 |
rs_1478233429 |
3 SubmittersRCV000637588RCV004948505 |
|
NM_000059.4(BRCA2):c.794-6T>C
|
SNV Germline |
Chr13:32332266 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA658798112 |
rs_1555281587 |
2 SubmittersRCV000637950RCV005357847 |
|
NM_000059.4(BRCA2):c.8954-1G>A
|
SNV Germline |
Chr13:32379749 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Malignant tumor of breast Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387757355 |
rs_1555288435 |
6 SubmittersRCV000637479RCV001358060RCV003472000RCV004601229RCV005601063 |
|
NM_000059.4(BRCA2):c.978C>G (p.Ser326Arg)
|
SNV Germline |
Chr13:32332456 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387760945 |
rs_28897706 |
6 SubmittersRCV000637859RCV002377386RCV002469228RCV003478365 |
|
NM_000059.4(BRCA2):c.1233A>G (p.Ile411Met)
|
SNV Germline |
Chr13:32332711 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387762198 |
rs_1555281784 |
4 SubmittersRCV000637579RCV001010467RCV003314631 |
|
NM_000059.4(BRCA2):c.1987T>C (p.Phe663Leu)
|
SNV Germline |
Chr13:32336342 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387768631 |
rs_1555282387 |
3 SubmittersRCV000637323RCV003157742RCV004003838 |
|
NM_000059.4(BRCA2):c.2111C>T (p.Pro704Leu)
|
SNV Germline |
Chr13:32336466 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940581 |
rs_768323836 |
3 SubmittersRCV000637734RCV002420715 |
|
NM_000059.4(BRCA2):c.2489A>T (p.Asn830Ile)
|
SNV Germline |
Chr13:32336844 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772405 |
rs_786202809 |
4 SubmittersRCV000637393RCV001756058RCV002424403 |
|
NM_000059.4(BRCA2):c.2527G>A (p.Ala843Thr)
|
SNV Germline |
Chr13:32336882 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772480 |
rs_1555282730 |
2 SubmittersRCV000637751RCV003157795 |
|
NM_000059.4(BRCA2):c.3779T>G (p.Leu1260Ter)
|
SNV Germline |
Chr13:32338134 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387778317 |
rs_1555283397 |
2 SubmittersRCV000637372RCV000663247 |
|
NM_000059.4(BRCA2):c.3809T>C (p.Val1270Ala)
|
SNV Germline |
Chr13:32338164 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778444 |
rs_1555283403 |
3 SubmittersRCV000637650RCV003157781 |
|
NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter)
|
SNV Germline |
Chr13:32338509 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387780011 |
rs_886038101 |
7 SubmittersRCV000637324RCV002223894RCV002272311RCV004948502RCV004568400 |
|
NM_000059.4(BRCA2):c.4433T>G (p.Leu1478Arg)
|
SNV Germline |
Chr13:32338788 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781303 |
rs_1382689372 |
2 SubmittersRCV000637608RCV003157775 |
|
NM_000059.4(BRCA2):c.4876A>C (p.Asn1626His)
|
SNV Germline |
Chr13:32339231 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783477 |
rs_1555283968 |
3 SubmittersRCV000637532RCV002331146 |
|
NM_000059.4(BRCA2):c.5075G>A (p.Trp1692Ter)
|
SNV Germline |
Chr13:32339430 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387784070 |
rs_1555284058 |
3 SubmittersRCV000637341RCV003139964RCV004948503 |
|
NM_000059.4(BRCA2):c.6233G>A (p.Gly2078Glu)
|
SNV Germline |
Chr13:32340588 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788896 |
rs_769883812 |
3 SubmittersRCV000637800RCV002360547 |
|
NM_000059.4(BRCA2):c.6409A>G (p.Asn2137Asp)
|
SNV Germline |
Chr13:32340764 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387789256 |
rs_1555284672 |
3 SubmittersRCV000637665RCV003157784RCV004768491 |
|
NM_000059.4(BRCA2):c.6649A>G (p.Lys2217Glu)
|
SNV Germline |
Chr13:32341004 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790385 |
rs_1555284779 |
3 SubmittersRCV000637437RCV003157753 |
|
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile)
|
SNV Germline |
Chr13:32370412 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387752356 |
rs_1434821822 |
7 SubmittersRCV000772450RCV002477402RCV000637364RCV004808815RCV004568401RCV004802309 |
|
NM_000059.4(BRCA2):c.8954-11T>A
|
SNV Germline |
Chr13:32379739 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA658798072 |
rs_1555288427 |
2 SubmittersRCV000637834RCV001805769 |
|
NM_000059.4(BRCA2):c.9548T>C (p.Ile3183Thr)
|
SNV Germline |
Chr13:32396944 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6941411 |
rs_755201475 |
7 SubmittersRCV000637697RCV000735628RCV000773162RCV001193284RCV001823154RCV005357845 |
|
NM_000059.4(BRCA2):c.4025G>A (p.Ser1342Asn)
|
SNV Germline |
Chr13:32338380 |
Conflicting classifications of pathogenicity |
Breast cancer, susceptibility to Infiltrating duct carcinoma of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Ovarian cancer BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387779050 |
rs_1270552356 |
7 SubmittersRCV000656474RCV000677837RCV000774996RCV002534246RCV003153793RCV004527716 |
|
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)
|
SNV Germline |
Chr13:32363367 |
Conflicting classifications of pathogenicity |
Breast cancer, susceptibility to Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387749581 |
rs_80359062 |
6 SubmittersRCV000656473RCV000818447RCV001027236RCV004796262RCV005367486 |
|
NM_000059.4(BRCA2):c.8477A>T (p.Tyr2826Phe)
|
SNV Germline |
Chr13:32370547 |
Conflicting classifications of pathogenicity |
Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387752634 |
rs_1555287666 |
2 SubmittersRCV000656472RCV001017862 |
|
NM_000059.4(BRCA2):c.4045A>G (p.Ile1349Val)
|
SNV Germline |
Chr13:32338400 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940743 |
rs_780544697 |
4 SubmittersRCV000656600RCV003157804RCV001855349RCV003234787 |
|
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)
|
SNV Germline |
Chr13:32338058 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387778051 |
rs_1555283366 |
5 SubmittersRCV000657710RCV000781127RCV002343403 |
|
NM_000059.4(BRCA2):c.5006T>G (p.Leu1669Ter)
|
SNV Germline |
Chr13:32339361 |
Pathogenic |
Condition: not provided Familial cancer of breast |
Criteria Provided Single Submitter |
CA387783933 |
rs_1555284032 |
2 SubmittersRCV000657740RCV001004832 |
|
NM_000059.4(BRCA2):c.8931T>G (p.Tyr2977Ter)
|
SNV Germline |
Chr13:32379493 |
Pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387757303 |
rs_886040801 |
2 SubmittersRCV000657678RCV005091888 |
|
NM_000059.4(BRCA2):c.926C>G (p.Ser309Ter)
|
SNV Germline |
Chr13:32332404 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA387760758 |
rs_886038059 |
1 SubmittersRCV000661476 |
|
NM_000059.4(BRCA2):c.1337T>A (p.Leu446Ter)
|
SNV Germline |
Chr13:32332815 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA387762713 |
rs_1555281845 |
2 SubmittersRCV000661402RCV001185291 |
|
NM_000059.4(BRCA2):c.2133C>A (p.Cys711Ter)
|
SNV Germline |
Chr13:32336488 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reviewed By Expert Panel |
CA387770089 |
rs_535547513 |
4 SubmittersRCV000661794RCV000807132RCV003472058RCV005520326 |
|
NM_000059.4(BRCA2):c.5253C>A (p.Tyr1751Ter)
|
SNV Germline |
Chr13:32339608 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Reviewed By Expert Panel |
CA387784708 |
rs_1555284133 |
1 SubmittersRCV000661861 |
|
NM_000059.4(BRCA2):c.3875T>A (p.Leu1292Gln)
|
SNV Germline |
Chr13:32338230 |
Conflicting classifications of pathogenicity |
Ovarian cancer Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778729 |
rs_1555283446 |
3 SubmittersRCV000677828RCV001208588RCV003157807 |
|
NM_000059.4(BRCA2):c.9206G>A (p.Cys3069Tyr)
|
SNV Germline |
Chr13:32380095 |
Conflicting classifications of pathogenicity |
Malignant tumor of pancreas Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387758294 |
rs_587782091 |
3 SubmittersRCV000677843RCV001861856RCV004948563 |
|
NM_000059.4(BRCA2):c.2803G>T (p.Asp935Tyr)
|
SNV Germline |
Chr13:32337158 |
Conflicting classifications of pathogenicity |
Ovarian cancer Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773749 |
rs_28897716 |
4 SubmittersRCV000677849RCV001205781RCV002440415 |
|
NM_000059.4(BRCA2):c.1963C>A (p.Pro655Thr)
|
SNV Germline |
Chr13:32336318 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768498 |
rs_1566225847 |
4 SubmittersRCV000679156RCV002422458RCV005056422 |
|
NM_000059.4(BRCA2):c.5368G>C (p.Val1790Leu)
|
SNV Germline |
Chr13:32339723 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785130 |
rs_1566232328 |
5 SubmittersRCV000679177RCV001302750RCV002343424 |
|
NM_000059.4(BRCA2):c.7426G>A (p.Glu2476Lys)
|
SNV Germline |
Chr13:32355279 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247468882 |
rs_879248686 |
2 SubmittersRCV000679186RCV005520327 |
|
NM_000059.4(BRCA2):c.283G>A (p.Val95Ile)
|
SNV Germline |
Chr13:32319292 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754609 |
rs_1566216059 |
2 SubmittersRCV000707604RCV002440557 |
|
NM_000059.4(BRCA2):c.1235C>G (p.Pro412Arg)
|
SNV Germline |
Chr13:32332713 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762209 |
rs_876659628 |
5 SubmittersRCV000687886RCV005357914RCV003157827 |
|
NM_000059.4(BRCA2):c.1706A>G (p.Gln569Arg)
|
SNV Germline |
Chr13:32333184 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387765272 |
rs_1566224153 |
5 SubmittersRCV000704219RCV001184333RCV004802394 |
|
NM_000059.4(BRCA2):c.1864G>A (p.Ala622Thr)
|
SNV Germline |
Chr13:32333342 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766502 |
rs_1566224537 |
3 SubmittersRCV000689741RCV002406552 |
|
NM_000059.4(BRCA2):c.2039C>G (p.Thr680Arg)
|
SNV Germline |
Chr13:32336394 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387768921 |
rs_1566226005 |
4 SubmittersRCV000704126RCV002422589RCV004802393 |
|
NM_000059.4(BRCA2):c.2183A>C (p.Asp728Ala)
|
SNV Germline |
Chr13:32336538 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940586 |
rs_757577670 |
4 SubmittersRCV000692499RCV001014716 |
|
NM_000059.4(BRCA2):c.2266C>G (p.Gln756Glu)
|
SNV Germline |
Chr13:32336621 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387771044 |
rs_1057518637 |
5 SubmittersRCV000700822RCV001775972RCV002442500RCV004802386 |
|
NM_000059.4(BRCA2):c.2347G>C (p.Val783Leu)
|
SNV Germline |
Chr13:32336702 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771618 |
rs_1566226546 |
2 SubmittersRCV000690022RCV003157833 |
|
NM_000059.4(BRCA2):c.2408A>C (p.Tyr803Ser)
|
SNV Germline |
Chr13:32336763 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772014 |
rs_1566226664 |
2 SubmittersRCV000685915RCV003157817 |
|
NM_000059.4(BRCA2):c.2983G>A (p.Gly995Arg)
|
SNV Germline |
Chr13:32337338 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774571 |
rs_886040457 |
3 SubmittersRCV000704538RCV001184335 |
|
NM_000059.4(BRCA2):c.2992G>A (p.Gly998Ser)
|
SNV Germline |
Chr13:32337347 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774612 |
rs_777615894 |
3 SubmittersRCV000693894RCV002440465 |
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
SNV Germline |
Chr13:32337375 |
Conflicting classifications of pathogenicity |
8 conditions Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774833 |
rs_1566227648 |
4 SubmittersRCV002485644RCV000691289RCV001018076 |
|
NM_000059.4(BRCA2):c.3104A>G (p.Glu1035Gly)
|
SNV Germline |
Chr13:32337459 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775358 |
rs_1566227803 |
3 SubmittersRCV000706668RCV003158082 |
|
NM_000059.4(BRCA2):c.3636T>G (p.Asn1212Lys)
|
SNV Germline |
Chr13:32337991 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387777923 |
rs_1555283324 |
5 SubmittersRCV000696502RCV000773895RCV004702339 |
|
NM_000059.4(BRCA2):c.3768T>A (p.His1256Gln)
|
SNV Germline |
Chr13:32338123 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778247 |
rs_1566229121 |
3 SubmittersRCV000692959RCV002343469 |
|
NM_000059.4(BRCA2):c.3779T>A (p.Leu1260Ter)
|
SNV Germline |
Chr13:32338134 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387778313 |
rs_1555283397 |
1 SubmittersRCV000702361 |
|
NM_000059.4(BRCA2):c.3859A>C (p.Asn1287His)
|
SNV Germline |
Chr13:32338214 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778651 |
rs_1566229283 |
3 SubmittersRCV000699122RCV003158054 |
|
NM_000059.4(BRCA2):c.3901A>T (p.Thr1301Ser)
|
SNV Germline |
Chr13:32338256 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940732 |
rs_779899032 |
5 SubmittersRCV000698638RCV001293520RCV000772743 |
|
NM_000059.4(BRCA2):c.4096C>G (p.Leu1366Val)
|
SNV Germline |
Chr13:32338451 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779237 |
rs_1566229657 |
2 SubmittersRCV000695644RCV003158038 |
|
NM_000059.4(BRCA2):c.4381T>G (p.Ser1461Ala)
|
SNV Germline |
Chr13:32338736 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781054 |
rs_1060502490 |
3 SubmittersRCV000688123RCV002331339 |
|
NM_000059.4(BRCA2):c.4712A>T (p.Glu1571Val)
|
SNV Germline |
Chr13:32339067 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782939 |
rs_766833528 |
3 SubmittersRCV000704203RCV002250686RCV003158073 |
|
NM_000059.4(BRCA2):c.4735G>C (p.Ala1579Pro)
|
SNV Germline |
Chr13:32339090 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783037 |
rs_1566231045 |
2 SubmittersRCV000703403RCV003158069 |
|
NM_000059.4(BRCA2):c.5049G>C (p.Gln1683His)
|
SNV Germline |
Chr13:32339404 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784017 |
rs_773973434 |
3 SubmittersRCV000703400RCV002334370 |
|
NM_000059.4(BRCA2):c.5074T>A (p.Trp1692Arg)
|
SNV Germline |
Chr13:32339429 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784067 |
rs_1566231669 |
2 SubmittersRCV000689387RCV003157829 |
|
NM_000059.4(BRCA2):c.5161A>G (p.Asn1721Asp)
|
SNV Germline |
Chr13:32339516 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784242 |
rs_1443102794 |
4 SubmittersRCV000689790RCV001525329 |
|
NM_000059.4(BRCA2):c.5327T>G (p.Leu1776Trp)
|
SNV Germline |
Chr13:32339682 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387784918 |
rs_1566232213 |
5 SubmittersRCV000691267RCV000777629RCV004802363 |
|
NM_000059.4(BRCA2):c.6001T>C (p.Ser2001Pro)
|
SNV Germline |
Chr13:32340356 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787678 |
rs_939633265 |
3 SubmittersRCV000686403RCV001024794 |
|
NM_000059.4(BRCA2):c.6057C>A (p.Asn2019Lys)
|
SNV Germline |
Chr13:32340412 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940925 |
rs_147961615 |
4 SubmittersRCV000702139RCV001183819 |
|
NM_000059.4(BRCA2):c.6072G>T (p.Gln2024His)
|
SNV Germline |
Chr13:32340427 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787977 |
rs_1566233838 |
3 SubmittersRCV000701875RCV002352194 |
|
NM_000059.4(BRCA2):c.6269A>T (p.His2090Leu)
|
SNV Germline |
Chr13:32340624 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788969 |
rs_397507366 |
3 SubmittersRCV000686229RCV002360715 |
|
NM_000059.4(BRCA2):c.6302A>G (p.Asn2101Ser)
|
SNV Germline |
Chr13:32340657 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789031 |
rs_1566234294 |
3 SubmittersRCV000688725RCV001025110 |
|
NM_000059.4(BRCA2):c.6647C>T (p.Ser2216Phe)
|
SNV Germline |
Chr13:32341002 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790382 |
rs_1555284777 |
3 SubmittersRCV000699491RCV000773526 |
|
NM_000059.4(BRCA2):c.6714T>A (p.Asp2238Glu)
|
SNV Germline |
Chr13:32341069 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387791010 |
rs_28897742 |
5 SubmittersRCV000688362RCV004997148RCV002360727RCV004004280 |
|
NM_000059.4(BRCA2):c.7435+2T>A
|
SNV Germline |
Chr13:32355290 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387742150 |
rs_1434072252 |
2 SubmittersRCV000705322RCV004026685 |
|
NM_000059.4(BRCA2):c.8679G>T (p.Gln2893His)
|
SNV Germline |
Chr13:32376716 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754762 |
rs_1566251407 |
3 SubmittersRCV000687926RCV000759675RCV002442428 |
|
NM_000059.4(BRCA2):c.8755-2A>C
|
SNV Germline |
Chr13:32379315 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387755673 |
rs_1566252482 |
2 SubmittersRCV000688029RCV003316797 |
|
NM_000059.4(BRCA2):c.8920A>G (p.Ile2974Val)
|
SNV Germline |
Chr13:32379482 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757280 |
rs_1197950867 |
2 SubmittersRCV000704729RCV002369955 |
|
NM_000059.4(BRCA2):c.998T>C (p.Phe333Ser)
|
SNV Germline |
Chr13:32332476 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940481 |
rs_781464949 |
4 SubmittersRCV000704702RCV001190684 |
|
NM_000059.4(BRCA2):c.1142A>G (p.Asp381Gly)
|
SNV Germline |
Chr13:32332620 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940493 |
rs_769297468 |
3 SubmittersRCV000701259RCV001017418 |
|
NM_000059.4(BRCA2):c.1312G>T (p.Asp438Tyr)
|
SNV Germline |
Chr13:32332790 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA6940506 |
rs_765436962 |
8 SubmittersRCV000690507RCV000774909RCV004800539RCV003478411RCV003999547RCV005010682 |
|
NM_000059.4(BRCA2):c.1358C>G (p.Pro453Arg)
|
SNV Germline |
Chr13:32332836 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387762815 |
rs_754587041 |
4 SubmittersRCV000687015RCV000758863RCV003157822RCV004004257 |
|
NM_000059.4(BRCA2):c.1453A>G (p.Lys485Glu)
|
SNV Germline |
Chr13:32332931 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764341 |
rs_1566223599 |
5 SubmittersRCV000706447RCV001184337 |
|
NM_000059.4(BRCA2):c.1726A>G (p.Asn576Asp)
|
SNV Germline |
Chr13:32333204 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765359 |
rs_1566224180 |
3 SubmittersRCV000706183RCV003158079 |
|
NM_000059.4(BRCA2):c.1765A>G (p.Lys589Glu)
|
SNV Germline |
Chr13:32333243 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765603 |
rs_587781801 |
5 SubmittersRCV000695613RCV002256475 |
|
NM_000059.4(BRCA2):c.2144G>C (p.Gly715Ala)
|
SNV Germline |
Chr13:32336499 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770150 |
rs_1566226193 |
3 SubmittersRCV000691258RCV001756181RCV003158023 |
|
NM_000059.4(BRCA2):c.2154A>C (p.Glu718Asp)
|
SNV Germline |
Chr13:32336509 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770210 |
rs_1566226220 |
2 SubmittersRCV000704771RCV003158074 |
|
NM_000059.4(BRCA2):c.2633A>G (p.Asp878Gly)
|
SNV Germline |
Chr13:32336988 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387773235 |
rs_765618026 |
5 SubmittersRCV000697478RCV001797785RCV001555337RCV003158048RCV003999666 |
|
NM_000059.4(BRCA2):c.3274T>C (p.Phe1092Leu)
|
SNV Germline |
Chr13:32337629 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776066 |
rs_1566228206 |
3 SubmittersRCV000699591RCV002442490 |
|
NM_000059.4(BRCA2):c.3311C>T (p.Thr1104Ile)
|
SNV Germline |
Chr13:32337666 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776207 |
rs_1566228273 |
3 SubmittersRCV000706587RCV002325433 |
|
NM_000059.4(BRCA2):c.3443A>T (p.Gln1148Leu)
|
SNV Germline |
Chr13:32337798 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776645 |
rs_200808363 |
2 SubmittersRCV000705911RCV003158077 |
|
NM_000059.4(BRCA2):c.3949A>G (p.Thr1317Ala)
|
SNV Germline |
Chr13:32338304 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778889 |
rs_398122773 |
2 SubmittersRCV000700895RCV003158060 |
|
NM_000059.4(BRCA2):c.3986G>A (p.Arg1329Lys)
|
SNV Germline |
Chr13:32338341 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778965 |
rs_1566229484 |
2 SubmittersRCV000691965RCV003158026 |
|
NM_000059.4(BRCA2):c.4004A>G (p.Glu1335Gly)
|
SNV Germline |
Chr13:32338359 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779000 |
rs_1566229501 |
2 SubmittersRCV000688598RCV003157828 |
|
NM_000059.4(BRCA2):c.4298G>A (p.Gly1433Glu)
|
SNV Germline |
Chr13:32338653 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940767 |
rs_758795405 |
4 SubmittersRCV000702761RCV000758892RCV002332491 |
|
NM_000059.4(BRCA2):c.4823A>G (p.Glu1608Gly)
|
SNV Germline |
Chr13:32339178 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783301 |
rs_766855850 |
2 SubmittersRCV000696621RCV003158044 |
|
NM_000059.4(BRCA2):c.4952C>T (p.Pro1651Leu)
|
SNV Germline |
Chr13:32339307 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940833 |
rs_565268514 |
7 SubmittersRCV000985536RCV000705847RCV004802399RCV001524910 |
|
NM_000059.4(BRCA2):c.5192A>G (p.His1731Arg)
|
SNV Germline |
Chr13:32339547 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940855 |
rs_765259371 |
5 SubmittersRCV000699255RCV001284090RCV002334341 |
|
NM_000059.4(BRCA2):c.5504A>G (p.Asn1835Ser)
|
SNV Germline |
Chr13:32339859 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387785811 |
rs_1282916502 |
3 SubmittersRCV000700320RCV003158058RCV003478433 |
|
NM_000059.4(BRCA2):c.5567A>G (p.His1856Arg)
|
SNV Germline |
Chr13:32339922 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387785987 |
rs_1566232680 |
5 SubmittersRCV000690379RCV003158020RCV003234788RCV004721555 |
|
NM_000059.4(BRCA2):c.5736A>C (p.Glu1912Asp)
|
SNV Germline |
Chr13:32340091 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786941 |
rs_1566233116 |
2 SubmittersRCV000685985RCV003157818 |
|
NM_000059.4(BRCA2):c.5911T>C (p.Ser1971Pro)
|
SNV Germline |
Chr13:32340266 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787513 |
rs_1566233504 |
2 SubmittersRCV000707701RCV003158086 |
|
NM_000059.4(BRCA2):c.6061C>T (p.His2021Tyr)
|
SNV Germline |
Chr13:32340416 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787929 |
rs_1566233813 |
3 SubmittersRCV000706136RCV002352214 |
|
NM_000059.4(BRCA2):c.6196G>T (p.Val2066Phe)
|
SNV Germline |
Chr13:32340551 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788827 |
rs_397507365 |
2 SubmittersRCV000691596RCV003158024 |
|
NM_000059.4(BRCA2):c.6220C>T (p.His2074Tyr)
|
SNV Germline |
Chr13:32340575 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940936 |
rs_34309943 |
3 SubmittersRCV000697640RCV000776357 |
|
NM_000059.4(BRCA2):c.6282T>A (p.Tyr2094Ter)
|
SNV Germline |
Chr13:32340637 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387788994 |
rs_1566234249 |
1 SubmittersRCV000695620 |
|
NM_000059.4(BRCA2):c.6286C>T (p.Pro2096Ser)
|
SNV Germline |
Chr13:32340641 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789004 |
rs_1309257585 |
3 SubmittersRCV000700111RCV002360793 |
|
NM_000059.4(BRCA2):c.6505A>T (p.Thr2169Ser)
|
SNV Germline |
Chr13:32340860 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387789558 |
rs_1471965041 |
4 SubmittersRCV000700191RCV001186495RCV003483711 |
|
NM_000059.4(BRCA2):c.6511G>A (p.Val2171Met)
|
SNV Germline |
Chr13:32340866 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789580 |
rs_1566234797 |
2 SubmittersRCV000690783RCV003158021 |
|
NM_000059.4(BRCA2):c.6821G>A (p.Gly2274Glu)
|
SNV Germline |
Chr13:32341176 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791438 |
rs_55712212 |
3 SubmittersRCV000698869RCV003158053 |
|
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter)
|
SNV Germline |
Chr13:32344575 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Reviewed By Expert Panel |
CA387792666 |
rs_876661261 |
4 SubmittersRCV000697327RCV002360780RCV005415441 |
|
NM_000059.4(BRCA2):c.8210T>A (p.Leu2737Ter)
|
SNV Germline |
Chr13:32363412 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387749775 |
rs_1566245715 |
1 SubmittersRCV000695375 |
|
NM_000059.4(BRCA2):c.9270C>G (p.Phe3090Leu)
|
SNV Germline |
Chr13:32394702 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA247504806 |
rs_587780873 |
5 SubmittersRCV000686805RCV002369831RCV004802354RCV005231266RCV005249021 |
|
NM_000059.4(BRCA2):c.9706A>T (p.Lys3236Ter)
|
SNV Germline |
Chr13:32398219 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387765413 |
rs_80359239 |
2 SubmittersRCV000706708RCV003141708 |
|
NM_000059.4(BRCA2):c.818C>T (p.Ser273Leu)
|
SNV Germline |
Chr13:32332296 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940467 |
rs_80359068 |
5 SubmittersRCV000686235RCV002424586RCV003478403RCV004004244 |
|
NM_000059.4(BRCA2):c.1418A>C (p.His473Pro)
|
SNV Germline |
Chr13:32332896 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764219 |
rs_80358430 |
2 SubmittersRCV000697642RCV003158049 |
|
NM_000059.4(BRCA2):c.2008T>C (p.Cys670Arg)
|
SNV Germline |
Chr13:32336363 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768743 |
rs_1566225927 |
2 SubmittersRCV000699997RCV003158057 |
|
NM_000059.4(BRCA2):c.2078G>A (p.Cys693Tyr)
|
SNV Germline |
Chr13:32336433 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940577 |
rs_771226774 |
4 SubmittersRCV000703516RCV000772734 |
|
NM_000059.4(BRCA2):c.2183A>T (p.Asp728Val)
|
SNV Germline |
Chr13:32336538 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770385 |
rs_757577670 |
3 SubmittersRCV000701244RCV003158062 |
|
NM_000059.4(BRCA2):c.2476G>A (p.Glu826Lys)
|
SNV Germline |
Chr13:32336831 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387772372 |
rs_1566226803 |
5 SubmittersRCV000694642RCV001015652RCV001193885 |
|
NM_000059.4(BRCA2):c.2815A>G (p.Thr939Ala)
|
SNV Germline |
Chr13:32337170 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773774 |
rs_1566227305 |
2 SubmittersRCV000701932RCV003158066 |
|
NM_000059.4(BRCA2):c.3044A>C (p.Lys1015Thr)
|
SNV Germline |
Chr13:32337399 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA247503555 |
rs_1000398743 |
6 SubmittersRCV000696911RCV001186599RCV000985490RCV003999662 |
|
NM_000059.4(BRCA2):c.3110A>G (p.Gln1037Arg)
|
SNV Germline |
Chr13:32337465 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775409 |
rs_1566227808 |
4 SubmittersRCV000686068RCV000775691 |
|
NM_000059.4(BRCA2):c.3611C>T (p.Ala1204Val)
|
SNV Germline |
Chr13:32337966 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777547 |
rs_1566228843 |
3 SubmittersRCV000691212RCV002458230 |
|
NM_000059.4(BRCA2):c.3659A>G (p.Tyr1220Cys)
|
SNV Germline |
Chr13:32338014 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777971 |
rs_1566228915 |
3 SubmittersRCV000690016RCV003157832 |
|
NM_000059.4(BRCA2):c.3989A>T (p.Asn1330Ile)
|
SNV Germline |
Chr13:32338344 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778971 |
rs_1057520792 |
2 SubmittersRCV000706055RCV003158078 |
|
NM_000059.4(BRCA2):c.4295G>A (p.Ser1432Asn)
|
SNV Germline |
Chr13:32338650 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780679 |
rs_1566230025 |
3 SubmittersRCV000694470RCV001022228 |
|
NM_000059.4(BRCA2):c.4559C>G (p.Thr1520Ser)
|
SNV Germline |
Chr13:32338914 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940792 |
rs_747993489 |
6 SubmittersRCV000687215RCV000772749RCV003493703RCV003442019 |
|
NM_000059.4(BRCA2):c.4633C>T (p.Leu1545Phe)
|
SNV Germline |
Chr13:32338988 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782113 |
rs_1566230846 |
4 SubmittersRCV000698794RCV004596329RCV003158052 |
|
NM_000059.4(BRCA2):c.4654G>A (p.Gly1552Ser)
|
SNV Germline |
Chr13:32339009 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782211 |
rs_1566230890 |
2 SubmittersRCV000687114RCV003157823 |
|
NM_000059.4(BRCA2):c.5131G>T (p.Val1711Leu)
|
SNV Germline |
Chr13:32339486 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784177 |
rs_587782067 |
3 SubmittersRCV000695492RCV001023596 |
|
NM_000059.4(BRCA2):c.5145G>C (p.Leu1715Phe)
|
SNV Germline |
Chr13:32339500 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784206 |
rs_1566231804 |
3 SubmittersRCV000695099RCV002334311 |
|
NM_000059.4(BRCA2):c.5284T>C (p.Tyr1762His)
|
SNV Germline |
Chr13:32339639 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784768 |
rs_1192019733 |
3 SubmittersRCV000702897RCV003158068 |
|
NM_000059.4(BRCA2):c.5300A>G (p.Lys1767Arg)
|
SNV Germline |
Chr13:32339655 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784824 |
rs_1375943534 |
2 SubmittersRCV000704116RCV003158072 |
|
NM_000059.4(BRCA2):c.5806A>G (p.Met1936Val)
|
SNV Germline |
Chr13:32340161 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387787233 |
rs_1566233265 |
6 SubmittersRCV000695128RCV001798960RCV001184332RCV003999633 |
|
NM_000059.4(BRCA2):c.5871A>G (p.Ile1957Met)
|
SNV Germline |
Chr13:32340226 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387787436 |
rs_1566233369 |
4 SubmittersRCV000702885RCV002352197RCV004802391 |
|
NM_000059.4(BRCA2):c.5878T>C (p.Cys1960Arg)
|
SNV Germline |
Chr13:32340233 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787454 |
rs_1566233377 |
2 SubmittersRCV000693579RCV003158033 |
|
NM_000059.4(BRCA2):c.5917A>G (p.Asn1973Asp)
|
SNV Germline |
Chr13:32340272 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787524 |
rs_1555284460 |
2 SubmittersRCV000696858RCV003158046 |
|
NM_000059.4(BRCA2):c.6053G>T (p.Ser2018Ile)
|
SNV Germline |
Chr13:32340408 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787891 |
rs_1566233796 |
2 SubmittersRCV000687254RCV003157824 |
|
NM_000059.4(BRCA2):c.6067G>T (p.Asp2023Tyr)
|
SNV Germline |
Chr13:32340422 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787953 |
rs_1478738690 |
2 SubmittersRCV000696234RCV003158042 |
|
NM_000059.4(BRCA2):c.6117A>C (p.Leu2039Phe)
|
SNV Germline |
Chr13:32340472 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387788152 |
rs_1566233950 |
4 SubmittersRCV000685899RCV001024910RCV001193357 |
|
NM_000059.4(BRCA2):c.6279C>A (p.His2093Gln)
|
SNV Germline |
Chr13:32340634 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788987 |
rs_1566234239 |
2 SubmittersRCV000696755RCV003158045 |
|
NM_000059.4(BRCA2):c.6655T>G (p.Ser2219Ala)
|
SNV Germline |
Chr13:32341010 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790421 |
rs_1566235100 |
2 SubmittersRCV000687456RCV003157826 |
|
NM_000059.4(BRCA2):c.6769C>T (p.Pro2257Ser)
|
SNV Germline |
Chr13:32341124 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791215 |
rs_1566235374 |
2 SubmittersRCV000703424RCV003158070 |
|
NM_000059.4(BRCA2):c.6815G>A (p.Arg2272Lys)
|
SNV Germline |
Chr13:32341170 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6940987 |
rs_199522406 |
5 SubmittersRCV000689614RCV000758936RCV001025681RCV002509514 |
|
NM_000059.4(BRCA2):c.7312G>T (p.Asp2438Tyr)
|
SNV Germline |
Chr13:32355165 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6941079 |
rs_776936973 |
3 SubmittersRCV000689506RCV002386182RCV005231273 |
|
NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr)
|
SNV Germline |
Chr13:32362584 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387747084 |
rs_1566244783 |
2 SubmittersRCV000695105RCV002406594 |
|
NM_000059.4(BRCA2):c.8188G>T (p.Ala2730Ser)
|
SNV Germline |
Chr13:32363390 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387749677 |
rs_80359066 |
3 SubmittersRCV000702473RCV002424693 |
|
NM_000059.4(BRCA2):c.8417C>G (p.Ser2806Ter)
|
SNV Germline |
Chr13:32370487 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387752522 |
rs_587782785 |
1 SubmittersRCV000697446 |
|
NM_000059.4(BRCA2):c.9239C>G (p.Ser3080Cys)
|
SNV Germline |
Chr13:32380128 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6941358 |
rs_757824441 |
5 SubmittersRCV000687901RCV001188321RCV004802359RCV004588109 |
|
NM_000059.4(BRCA2):c.9256+4A>G
|
SNV Germline |
Chr13:32380149 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA891843583 |
rs_1566253715 |
3 SubmittersRCV000686044RCV003163103RCV005436011 |
|
NM_000059.4(BRCA2):c.9421G>A (p.Gly3141Arg)
|
SNV Germline |
Chr13:32394853 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761468 |
rs_1566259143 |
3 SubmittersRCV000696193RCV003584716 |
|
NM_000059.4(BRCA2):c.476-1G>C
|
SNV Germline |
Chr13:32326241 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387757602 |
rs_397507340 |
1 SubmittersRCV000697675 |
|
NM_000059.4(BRCA2):c.808T>G (p.Ser270Ala)
|
SNV Germline |
Chr13:32332286 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387760386 |
rs_1566222098 |
4 SubmittersRCV000699149RCV003158055RCV003994086 |
|
NM_000059.4(BRCA2):c.871C>G (p.Leu291Val)
|
SNV Germline |
Chr13:32332349 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760597 |
rs_1566222250 |
2 SubmittersRCV000700985RCV003158061 |
|
NM_000059.4(BRCA2):c.1168T>C (p.Ser390Pro)
|
SNV Germline |
Chr13:32332646 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761942 |
rs_1566222903 |
2 SubmittersRCV000697319RCV003158047 |
|
NM_000059.4(BRCA2):c.1366G>A (p.Glu456Lys)
|
SNV Germline |
Chr13:32332844 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940513 |
rs_778142232 |
4 SubmittersRCV000704282RCV000773074 |
|
NM_000059.4(BRCA2):c.2116G>A (p.Ala706Thr)
|
SNV Germline |
Chr13:32336471 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387769999 |
rs_1453451895 |
7 SubmittersRCV000695922RCV002422526RCV002509517RCV004802374 |
|
NM_000059.4(BRCA2):c.2498T>C (p.Leu833Pro)
|
SNV Germline |
Chr13:32336853 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772420 |
rs_1566226846 |
2 SubmittersRCV000693433RCV003158031 |
|
NM_000059.4(BRCA2):c.3262C>G (p.Pro1088Ala)
|
SNV Germline |
Chr13:32337617 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776016 |
rs_80358572 |
2 SubmittersRCV000696144RCV003158041 |
|
NM_000059.4(BRCA2):c.3506A>G (p.Asn1169Ser)
|
SNV Germline |
Chr13:32337861 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776978 |
rs_1194031580 |
4 SubmittersRCV000705467RCV001805823RCV002458312 |
|
NM_000059.4(BRCA2):c.3637G>T (p.Glu1213Ter)
|
SNV Germline |
Chr13:32337992 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387777926 |
rs_1566228876 |
2 SubmittersRCV000691926RCV001283921 |
|
NM_000059.4(BRCA2):c.3691A>G (p.Thr1231Ala)
|
SNV Germline |
Chr13:32338046 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778029 |
rs_1555283363 |
2 SubmittersRCV000685084RCV003157813 |
|
NM_000059.4(BRCA2):c.3926T>G (p.Ile1309Ser)
|
SNV Germline |
Chr13:32338281 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778840 |
rs_1566229403 |
2 SubmittersRCV000686771RCV003157819 |
|
NM_000059.4(BRCA2):c.4043G>A (p.Cys1348Tyr)
|
SNV Germline |
Chr13:32338398 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779090 |
rs_1307056903 |
4 SubmittersRCV000692198RCV001177427 |
|
NM_000059.4(BRCA2):c.4334A>C (p.Lys1445Thr)
|
SNV Germline |
Chr13:32338689 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780866 |
rs_1566230096 |
3 SubmittersRCV000688055RCV002331336 |
|
NM_000059.4(BRCA2):c.4452C>A (p.Asp1484Glu)
|
SNV Germline |
Chr13:32338807 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781375 |
rs_1566230343 |
2 SubmittersRCV000696101RCV003158040 |
|
NM_000059.4(BRCA2):c.4638T>A (p.Phe1546Leu)
|
SNV Germline |
Chr13:32338993 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940802 |
rs_777505242 |
4 SubmittersRCV000686790RCV003157820RCV004004253 |
|
NM_000059.4(BRCA2):c.4804A>G (p.Lys1602Glu)
|
SNV Germline |
Chr13:32339159 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783264 |
rs_1566231167 |
3 SubmittersRCV000701471RCV003158064 |
|
NM_000059.4(BRCA2):c.4937A>G (p.Glu1646Gly)
|
SNV Germline |
Chr13:32339292 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387783696 |
rs_762394148 |
5 SubmittersRCV000698099RCV001023296RCV001766515 |
|
NM_000059.4(BRCA2):c.4982A>T (p.Tyr1661Phe)
|
SNV Germline |
Chr13:32339337 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247508812 |
rs_771921490 |
5 SubmittersRCV000705607RCV003999767RCV002477629RCV003158076 |
|
NM_000059.4(BRCA2):c.5573C>A (p.Thr1858Lys)
|
SNV Germline |
Chr13:32339928 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786000 |
rs_1566232699 |
2 SubmittersRCV000706735RCV003158083 |
|
NM_000059.4(BRCA2):c.5651T>G (p.Ile1884Ser)
|
SNV Germline |
Chr13:32340006 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786162 |
rs_80358788 |
2 SubmittersRCV000699745RCV003158056 |
|
NM_000059.4(BRCA2):c.5695G>T (p.Asp1899Tyr)
|
SNV Germline |
Chr13:32340050 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786686 |
rs_371189402 |
2 SubmittersRCV000694572RCV003158035 |
|
NM_000059.4(BRCA2):c.5930T>A (p.Ile1977Asn)
|
SNV Germline |
Chr13:32340285 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787547 |
rs_1566233570 |
2 SubmittersRCV000687425RCV003157825 |
|
NM_000059.4(BRCA2):c.6143A>G (p.Asn2048Ser)
|
SNV Germline |
Chr13:32340498 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788255 |
rs_80358853 |
2 SubmittersRCV000694937RCV003158037 |
|
NM_000059.4(BRCA2):c.6230A>C (p.Lys2077Thr)
|
SNV Germline |
Chr13:32340585 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247513304 |
rs_955263930 |
3 SubmittersRCV000707293RCV002360837 |
|
NM_000059.4(BRCA2):c.7449T>G (p.Ser2483Arg)
|
SNV Germline |
Chr13:32356441 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387743039 |
rs_1566241861 |
3 SubmittersRCV000690621RCV002386189RCV004569295 |
|
NM_000059.4(BRCA2):c.8606T>A (p.Ile2869Asn)
|
SNV Germline |
Chr13:32371074 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387752907 |
rs_1566249383 |
2 SubmittersRCV000691491RCV002442444 |
|
NM_000059.4(BRCA2):c.9536A>G (p.Lys3179Arg)
|
SNV Germline |
Chr13:32396932 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387763088 |
rs_1566260108 |
3 SubmittersRCV000688973RCV000776763 |
|
NM_000059.4(BRCA2):c.3547G>C (p.Glu1183Gln)
|
SNV Germline |
Chr13:32337902 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387777204 |
rs_1566228768 |
3 SubmittersRCV000708681RCV003117505 |
|
NM_000059.4(BRCA2):c.3608G>A (p.Ser1203Asn)
|
SNV Germline |
Chr13:32337963 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247505427 |
rs_745817393 |
4 SubmittersRCV000708682RCV003117506 |
|
NM_000059.4(BRCA2):c.103C>T (p.Leu35Phe)
|
SNV Germline |
Chr13:32319112 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387754159 |
rs_1446479156 |
3 SubmittersRCV000988982RCV004949888RCV005092057 |
|
NM_000059.4(BRCA2):c.967G>A (p.Val323Ile)
|
SNV Germline |
Chr13:32332445 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760906 |
rs_1566222487 |
6 SubmittersRCV000709296RCV000988997RCV000759693RCV001779067RCV002386279 |
|
NM_000059.4(BRCA2):c.1471A>G (p.Thr491Ala)
|
SNV Germline |
Chr13:32332949 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387764398 |
rs_1566223650 |
5 SubmittersRCV000709298RCV001011762RCV000989000RCV004802402 |
|
NM_000059.4(BRCA2):c.1495C>T (p.Gln499Ter)
|
SNV Germline |
Chr13:32332973 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387764466 |
rs_1566223700 |
2 SubmittersRCV000989002RCV001525906 |
|
NM_000059.4(BRCA2):c.1953T>G (p.Asp651Glu)
|
SNV Germline |
Chr13:32336308 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940568 |
rs_771442178 |
2 SubmittersRCV000989007RCV003158087 |
|
NM_000059.4(BRCA2):c.2560A>G (p.Asn854Asp)
|
SNV Germline |
Chr13:32336915 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772545 |
rs_1413706911 |
3 SubmittersRCV000989014RCV003158088 |
|
NM_000059.4(BRCA2):c.2576T>C (p.Val859Ala)
|
SNV Germline |
Chr13:32336931 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772580 |
rs_1566226964 |
4 SubmittersRCV000709304RCV000989016RCV003158089 |
|
NM_000059.4(BRCA2):c.2998A>C (p.Ile1000Leu)
|
SNV Germline |
Chr13:32337353 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774658 |
rs_1555282999 |
6 SubmittersRCV000709306RCV000989020RCV000779970RCV002440559 |
|
NM_000059.4(BRCA2):c.5818G>T (p.Glu1940Ter)
|
SNV Germline |
Chr13:32340173 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Multiple Submitters No Conflicts |
CA387787277 |
rs_1566233278 |
3 SubmittersRCV000989044RCV002256490RCV005357956 |
|
NM_000059.4(BRCA2):c.6386A>G (p.Glu2129Gly)
|
SNV Germline |
Chr13:32340741 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789202 |
rs_1566234469 |
5 SubmittersRCV000709326RCV000989052RCV000758924RCV003158090 |
|
NM_000059.4(BRCA2):c.8488-2A>C
|
SNV Germline |
Chr13:32370954 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387752652 |
rs_773272765 |
2 SubmittersRCV000709335RCV000989071 |
|
NM_000059.4(BRCA2):c.8754+9G>A
|
SNV Germline |
Chr13:32376800 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6941290 |
rs_749435255 |
3 SubmittersRCV000709336RCV000989072 |
|
NM_000059.4(BRCA2):c.5130T>G (p.Tyr1710Ter)
|
SNV Germline |
Chr13:32339485 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387784176 |
rs_1566231778 |
1 SubmittersRCV000709714 |
|
NM_000059.4(BRCA2):c.5247T>G (p.Tyr1749Ter)
|
SNV Germline |
Chr13:32339602 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387784696 |
rs_1566232050 |
2 SubmittersRCV000722069RCV000775314 |
|
NM_000059.4(BRCA2):c.1885C>G (p.Leu629Val)
|
SNV Germline |
Chr13:32333363 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766684 |
rs_398122734 |
2 SubmittersRCV000755868RCV003158093 |
|
NM_000059.4(BRCA2):c.6443C>T (p.Ser2148Phe)
|
SNV Germline |
Chr13:32340798 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789318 |
rs_80358880 |
4 SubmittersRCV000755871RCV003158094RCV001215857 |
|
NM_000059.4(BRCA2):c.249G>C (p.Glu83Asp)
|
SNV Germline |
Chr13:32319258 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754541 |
rs_1442324599 |
4 SubmittersRCV000758876RCV001193141RCV001855910RCV004027165 |
|
NM_000059.4(BRCA2):c.369A>C (p.Lys123Asn)
|
SNV Germline |
Chr13:32325128 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387756628 |
rs_1566218165 |
6 SubmittersRCV000759603RCV001020910RCV001234415RCV005249036RCV004540083 |
|
NM_000059.4(BRCA2):c.931T>G (p.Cys311Gly)
|
SNV Germline |
Chr13:32332409 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940477 |
rs_61754140 |
5 SubmittersRCV000758973RCV001186867RCV001855911 |
|
NM_000059.4(BRCA2):c.1311A>G (p.Lys437=)
|
SNV Germline |
Chr13:32332789 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483436699 |
rs_1566223261 |
3 SubmittersRCV000758862RCV001456445RCV004601264 |
|
NM_000059.4(BRCA2):c.1447G>T (p.Ala483Ser)
|
SNV Germline |
Chr13:32332925 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387764322 |
rs_80358432 |
6 SubmittersRCV000759575RCV000772721RCV003645088RCV003999904 |
|
NM_000059.4(BRCA2):c.2375A>G (p.Tyr792Cys)
|
SNV Germline |
Chr13:32336730 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771806 |
rs_1566226599 |
3 SubmittersRCV000758873RCV001301542RCV003158097 |
|
NM_000059.4(BRCA2):c.2603C>T (p.Thr868Ile)
|
SNV Germline |
Chr13:32336958 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772634 |
rs_1566227012 |
4 SubmittersRCV000759590RCV001016079RCV003768282 |
|
NM_000059.4(BRCA2):c.3470A>T (p.Glu1157Val)
|
SNV Germline |
Chr13:32337825 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776796 |
rs_1566228642 |
2 SubmittersRCV000758885RCV003158098 |
|
NM_000059.4(BRCA2):c.3617G>A (p.Gly1206Asp)
|
SNV Germline |
Chr13:32337972 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387777566 |
rs_1410689747 |
5 SubmittersRCV000759600RCV003158105RCV003645089RCV004802413 |
|
NM_000059.4(BRCA2):c.3639A>T (p.Glu1213Asp)
|
SNV Germline |
Chr13:32337994 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387777931 |
rs_1303026901 |
4 SubmittersRCV000759601RCV002458366RCV001047451 |
|
NM_000059.4(BRCA2):c.4062G>T (p.Thr1354=)
|
SNV Germline |
Chr13:32338417 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483438153 |
rs_768735660 |
4 SubmittersRCV000759611RCV002061030RCV002509528RCV002325460 |
|
NM_000059.4(BRCA2):c.4538A>T (p.Asp1513Val)
|
SNV Germline |
Chr13:32338893 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781733 |
rs_1566230577 |
3 SubmittersRCV000759617RCV001302164RCV003158106 |
|
NM_000059.4(BRCA2):c.4568G>A (p.Gly1523Asp)
|
SNV Germline |
Chr13:32338923 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781856 |
rs_879255451 |
5 SubmittersRCV000759618RCV001312310RCV003158107 |
|
NM_000059.4(BRCA2):c.4642G>A (p.Glu1548Lys)
|
SNV Germline |
Chr13:32338997 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782149 |
rs_1566230862 |
4 SubmittersRCV000759619RCV000791852RCV003158108 |
|
NM_000059.4(BRCA2):c.5141A>T (p.Tyr1714Phe)
|
SNV Germline |
Chr13:32339496 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784199 |
rs_1566231796 |
4 SubmittersRCV000758906RCV003158099RCV003768279 |
|
NM_000059.4(BRCA2):c.5384A>G (p.Lys1795Arg)
|
SNV Germline |
Chr13:32339739 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785221 |
rs_1566232357 |
4 SubmittersRCV000759623RCV002298757RCV003158109 |
|
NM_000059.4(BRCA2):c.5667T>C (p.Ile1889=)
|
SNV Germline |
Chr13:32340022 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA247510854 |
rs_1053022395 |
5 SubmittersRCV000758911RCV001462564RCV001176103RCV004802410 |
|
NM_000059.4(BRCA2):c.5905G>A (p.Val1969Ile)
|
SNV Germline |
Chr13:32340260 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787504 |
rs_1566233487 |
4 SubmittersRCV000759632RCV002352269RCV003645090 |
|
NM_000059.4(BRCA2):c.6141T>G (p.Tyr2047Ter)
|
SNV Germline |
Chr13:32340496 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387788246 |
rs_1466688245 |
4 SubmittersRCV000758919RCV001024938RCV000781134 |
|
NM_000059.4(BRCA2):c.6148G>T (p.Val2050Leu)
|
SNV Germline |
Chr13:32340503 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788275 |
rs_80358854 |
4 SubmittersRCV000758920RCV001319995RCV003158100 |
|
NM_000059.4(BRCA2):c.6253T>C (p.Leu2085=)
|
SNV Germline |
Chr13:32340608 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483438730 |
rs_761996223 |
2 SubmittersRCV000759637RCV002067197 |
|
NM_000059.4(BRCA2):c.6410A>G (p.Asn2137Ser)
|
SNV Germline |
Chr13:32340765 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789260 |
rs_1566234528 |
4 SubmittersRCV001025240RCV000758927RCV001230790 |
|
NM_000059.4(BRCA2):c.6448A>G (p.Lys2150Glu)
|
SNV Germline |
Chr13:32340803 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387789325 |
rs_1403648108 |
6 SubmittersRCV000758930RCV001370990RCV001184370RCV004802411 |
|
NM_000059.4(BRCA2):c.6500T>G (p.Leu2167Ter)
|
SNV Germline |
Chr13:32340855 |
Pathogenic |
Condition: not provided |
Criteria Provided Single Submitter |
CA387789540 |
rs_730881543 |
1 SubmittersRCV000759641 |
|
NM_000059.4(BRCA2):c.6800C>G (p.Ser2267Ter)
|
SNV Germline |
Chr13:32341155 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387791349 |
rs_377698594 |
2 SubmittersRCV000758935RCV004601265 |
|
NM_000059.4(BRCA2):c.6817A>G (p.Arg2273Gly)
|
SNV Germline |
Chr13:32341172 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791420 |
rs_1566235443 |
4 SubmittersRCV000758937RCV000799494RCV002360871 |
|
NM_000059.4(BRCA2):c.6839T>C (p.Val2280Ala)
|
SNV Germline |
Chr13:32341194 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387791511 |
rs_1566235479 |
6 SubmittersRCV000758940RCV000772891RCV004802412RCV003483716 |
|
NM_000059.4(BRCA2):c.7390C>G (p.Gln2464Glu)
|
SNV Germline |
Chr13:32355243 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6941087 |
rs_572945276 |
4 SubmittersRCV000758946RCV000779962RCV001055218RCV004027166 |
|
NM_000059.4(BRCA2):c.7422A>G (p.Glu2474=)
|
SNV Germline |
Chr13:32355275 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483439546 |
rs_1566241334 |
3 SubmittersRCV000758947RCV001026420RCV001502819 |
|
NM_000059.4(BRCA2):c.7494A>G (p.Lys2498=)
|
SNV Germline |
Chr13:32356486 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483260378 |
rs_1566241948 |
3 SubmittersRCV000759656RCV001494034RCV002388382 |
|
NM_000059.4(BRCA2):c.7504C>A (p.Arg2502Ser)
|
SNV Germline |
Chr13:32356496 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Inherited ovarian cancer (without breast cancer) |
Criteria Provided Conflicting Classifications |
CA387743431 |
rs_55716624 |
5 SubmittersRCV000759657RCV001184251RCV002533830RCV004692220 |
|
NM_000059.4(BRCA2):c.7882A>T (p.Ile2628Leu)
|
SNV Germline |
Chr13:32362599 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387747111 |
rs_1483187442 |
2 SubmittersRCV002406683RCV000758954 |
|
NM_000059.4(BRCA2):c.8469A>G (p.Gln2823=)
|
SNV Germline |
Chr13:32370539 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483261284 |
rs_1566248932 |
3 SubmittersRCV000758962RCV001017847RCV001059501 |
|
NM_000059.4(BRCA2):c.8562T>G (p.Tyr2854Ter)
|
SNV Germline |
Chr13:32371030 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387752803 |
rs_786201333 |
2 SubmittersRCV000759674RCV001051589 |
|
NM_000059.4(BRCA2):c.8691T>G (p.Ala2897=)
|
SNV Germline |
Chr13:32376728 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483261786 |
rs_1283898827 |
2 SubmittersRCV000759676RCV001192236 |
|
NM_000059.4(BRCA2):c.1910-1G>T
|
SNV Germline |
Chr13:32336264 |
Pathogenic/Likely pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387768197 |
rs_1566225769 |
5 SubmittersRCV000759582RCV000772386RCV003999905RCV001378610 |
|
NM_000059.4(BRCA2):c.7806-1G>A
|
SNV Germline |
Chr13:32362522 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387746913 |
rs_81002860 |
3 SubmittersRCV000758953RCV001026831RCV003530094 |
|
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)
|
SNV Germline |
Chr13:32339808 |
Pathogenic |
Fanconi anemia complementation group D1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387785604 |
rs_1566232471 |
4 SubmittersRCV000761285RCV001024132RCV003478452RCV003768291 |
|
NM_000059.4(BRCA2):c.4591A>G (p.Lys1531Glu)
|
SNV Germline |
Chr13:32338946 |
Conflicting classifications of pathogenicity |
Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781934 |
rs_1555283865 |
3 SubmittersRCV000769694RCV002334431 |
|
NM_000059.4(BRCA2):c.5860A>G (p.Thr1954Ala)
|
SNV Germline |
Chr13:32340215 |
Conflicting classifications of pathogenicity |
Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Ovarian cancer Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387787418 |
rs_1566233345 |
8 SubmittersRCV000770728RCV000812307RCV001024614RCV003153829RCV003478453RCV003607344 |
|
NM_000059.4(BRCA2):c.68-1G>C
|
SNV Unknown |
Chr13:32319076 |
Pathogenic |
Genetic non-acquired premature ovarian failure |
Criteria Provided Single Submitter |
CA387754005 |
rs_1060502376 |
1 SubmittersRCV000770917 |
|
NM_000059.4(BRCA2):c.364A>G (p.Thr122Ala)
|
SNV Germline |
Chr13:32325123 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387756617 |
rs_1218108009 |
4 SubmittersRCV000774800RCV001354288RCV002536688 |
|
NM_000059.4(BRCA2):c.544G>T (p.Glu182Ter)
|
SNV Germline |
Chr13:32326526 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387757870 |
rs_876660394 |
1 SubmittersRCV000772570 |
|
NM_000059.4(BRCA2):c.784G>C (p.Ala262Pro)
|
SNV Germline |
Chr13:32331021 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760226 |
rs_397507393 |
4 SubmittersRCV000776409RCV001302734 |
|
NM_000059.4(BRCA2):c.797T>G (p.Phe266Cys)
|
SNV Germline |
Chr13:32332275 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387760340 |
rs_1566222067 |
5 SubmittersRCV000773473RCV000791518RCV004000015 |
|
NM_000059.4(BRCA2):c.822T>A (p.Phe274Leu)
|
SNV Germline |
Chr13:32332300 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387760429 |
rs_1566222119 |
5 SubmittersRCV000775822RCV001856122RCV003159161 |
|
NM_000059.4(BRCA2):c.890A>G (p.Glu297Gly)
|
SNV Germline |
Chr13:32332368 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940473 |
rs_765756715 |
2 SubmittersRCV000772725 |
|
NM_000059.4(BRCA2):c.980A>C (p.Lys327Thr)
|
SNV Germline |
Chr13:32332458 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760954 |
rs_1566222524 |
3 SubmittersRCV000774002 |
|
NM_000059.4(BRCA2):c.998T>G (p.Phe333Cys)
|
SNV Germline |
Chr13:32332476 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761034 |
rs_781464949 |
2 SubmittersRCV000777290 |
|
NM_000059.4(BRCA2):c.1004A>G (p.Glu335Gly)
|
SNV Germline |
Chr13:32332482 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761068 |
rs_1566222581 |
4 SubmittersRCV000773844RCV001055035 |
|
NM_000059.4(BRCA2):c.1051A>G (p.Lys351Glu)
|
SNV Germline |
Chr13:32332529 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA247496494 |
rs_1003779807 |
5 SubmittersRCV000775857RCV002304219RCV005055135 |
|
NM_000059.4(BRCA2):c.1058C>T (p.Ser353Leu)
|
SNV Germline |
Chr13:32332536 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6940485 |
rs_769368098 |
5 SubmittersRCV000771533RCV001064596RCV003323718 |
|
NM_000059.4(BRCA2):c.1097T>C (p.Leu366Ser)
|
SNV Germline |
Chr13:32332575 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387761536 |
rs_886040345 |
7 SubmittersRCV000775963RCV000824337RCV002265880RCV002477777RCV004001466 |
|
NM_000059.4(BRCA2):c.1159G>A (p.Val387Ile)
|
SNV Germline |
Chr13:32332637 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761909 |
rs_869320791 |
4 SubmittersRCV000777328RCV001869120 |
|
NM_000059.4(BRCA2):c.1205G>A (p.Gly402Asp)
|
SNV Germline |
Chr13:32332683 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762074 |
rs_1566223012 |
3 SubmittersRCV000773538 |
|
NM_000059.4(BRCA2):c.1222A>G (p.Met408Val)
|
SNV Germline |
Chr13:32332700 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762131 |
rs_1566223036 |
4 SubmittersRCV000773547RCV001246888 |
|
NM_000059.4(BRCA2):c.1271C>T (p.Ser424Leu)
|
SNV Germline |
Chr13:32332749 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762383 |
rs_1566223138 |
3 SubmittersRCV000774250RCV003768369 |
|
NM_000059.4(BRCA2):c.1299C>G (p.Asn433Lys)
|
SNV Germline |
Chr13:32332777 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762524 |
rs_548313038 |
2 SubmittersRCV000777016 |
|
NM_000059.4(BRCA2):c.1322C>A (p.Thr441Asn)
|
SNV Germline |
Chr13:32332800 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762655 |
rs_1064793062 |
4 SubmittersRCV000773894RCV003493725RCV003645103 |
|
NM_000059.4(BRCA2):c.1357C>G (p.Pro453Ala)
|
SNV Germline |
Chr13:32332835 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762810 |
rs_1566223373 |
3 SubmittersRCV001299678RCV000774061 |
|
NM_000059.4(BRCA2):c.1379A>G (p.Asn460Ser)
|
SNV Germline |
Chr13:32332857 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940516 |
rs_777093572 |
3 SubmittersRCV000772726 |
|
NM_000059.4(BRCA2):c.1382A>C (p.Glu461Ala)
|
SNV Germline |
Chr13:32332860 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762991 |
rs_1566223455 |
3 SubmittersRCV000773832 |
|
NM_000059.4(BRCA2):c.1388C>T (p.Thr463Ile)
|
SNV Germline |
Chr13:32332866 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387763077 |
rs_151011453 |
6 SubmittersRCV000777160RCV003530107RCV003493728RCV004001491 |
|
NM_000059.4(BRCA2):c.1401G>T (p.Lys467Asn)
|
SNV Germline |
Chr13:32332879 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764155 |
rs_276174808 |
3 SubmittersRCV000772832RCV005092240 |
|
NM_000059.4(BRCA2):c.1570A>G (p.Met524Val)
|
SNV Germline |
Chr13:32333048 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764728 |
rs_1566223875 |
3 SubmittersRCV000772465RCV003645096 |
|
NM_000059.4(BRCA2):c.1586T>A (p.Phe529Tyr)
|
SNV Germline |
Chr13:32333064 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764781 |
rs_1566223912 |
3 SubmittersRCV000776408 |
|
NM_000059.4(BRCA2):c.1655C>A (p.Ser552Tyr)
|
SNV Germline |
Chr13:32333133 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387765014 |
rs_1566224045 |
5 SubmittersRCV000777355RCV001211446RCV001290668 |
|
NM_000059.4(BRCA2):c.1661G>A (p.Cys554Tyr)
|
SNV Germline |
Chr13:32333139 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA6940531 |
rs_748215651 |
8 SubmittersRCV000772730RCV000810961RCV001284413RCV004782542 |
|
NM_000059.4(BRCA2):c.1664C>T (p.Pro555Leu)
|
SNV Germline |
Chr13:32333142 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765046 |
rs_1566224075 |
3 SubmittersRCV000772627 |
|
NM_000059.4(BRCA2):c.1718C>G (p.Ala573Gly)
|
SNV Germline |
Chr13:32333196 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387765328 |
rs_1262187089 |
6 SubmittersRCV000779995RCV000774021RCV000791628RCV004803195 |
|
NM_000059.4(BRCA2):c.1819A>G (p.Lys607Glu)
|
SNV Germline |
Chr13:32333297 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387766054 |
rs_80358471 |
4 SubmittersRCV000775835RCV002536702 |
|
NM_000059.4(BRCA2):c.1843A>T (p.Asn615Tyr)
|
SNV Germline |
Chr13:32333321 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387766301 |
rs_777641881 |
3 SubmittersRCV000777064RCV001065241 |
|
NM_000059.4(BRCA2):c.1903G>C (p.Asp635His)
|
SNV Germline |
Chr13:32333381 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387767354 |
rs_1566224604 |
5 SubmittersRCV000776413RCV001856127RCV004001469 |
|
NM_000059.4(BRCA2):c.1940G>C (p.Cys647Ser)
|
SNV Germline |
Chr13:32336295 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768361 |
rs_1555282368 |
4 SubmittersRCV000777009RCV005092295 |
|
NM_000059.4(BRCA2):c.2016A>C (p.Arg672Ser)
|
SNV Germline |
Chr13:32336371 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768784 |
rs_1566225944 |
3 SubmittersRCV000772166RCV003645094 |
|
NM_000059.4(BRCA2):c.2030C>G (p.Ser677Cys)
|
SNV Germline |
Chr13:32336385 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387768874 |
rs_1555282410 |
4 SubmittersRCV000771649RCV001856000RCV002307610 |
|
NM_000059.4(BRCA2):c.2039C>T (p.Thr680Ile)
|
SNV Germline |
Chr13:32336394 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387768923 |
rs_1566226005 |
5 SubmittersRCV000772333RCV001201832RCV004802419 |
|
NM_000059.4(BRCA2):c.2048C>T (p.Ser683Phe)
|
SNV Germline |
Chr13:32336403 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768960 |
rs_1566226030 |
4 SubmittersRCV000773916RCV003530101 |
|
NM_000059.4(BRCA2):c.2144G>A (p.Gly715Glu)
|
SNV Germline |
Chr13:32336499 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387770147 |
rs_1566226193 |
3 SubmittersRCV000774965RCV004803201 |
|
NM_000059.4(BRCA2):c.2182G>T (p.Asp728Tyr)
|
SNV Germline |
Chr13:32336537 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770383 |
rs_1566226248 |
3 SubmittersRCV000773466RCV001856050 |
|
NM_000059.4(BRCA2):c.2221G>C (p.Val741Leu)
|
SNV Germline |
Chr13:32336576 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770674 |
rs_80358493 |
4 SubmittersRCV000773603RCV001035545 |
|
NM_000059.4(BRCA2):c.2256C>G (p.Asp752Glu)
|
SNV Germline |
Chr13:32336611 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770955 |
rs_766384913 |
2 SubmittersRCV000773978 |
|
NM_000059.4(BRCA2):c.2270A>G (p.Lys757Arg)
|
SNV Germline |
Chr13:32336625 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940590 |
rs_763035556 |
7 SubmittersRCV000772735RCV000942367RCV001487620RCV004802420 |
|
NM_000059.4(BRCA2):c.2285A>T (p.Asp762Val)
|
SNV Germline |
Chr13:32336640 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771170 |
rs_1555282600 |
3 SubmittersRCV000776774 |
|
NM_000059.4(BRCA2):c.2475T>G (p.Asn825Lys)
|
SNV Germline |
Chr13:32336830 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772371 |
rs_1566226801 |
2 SubmittersRCV000776855 |
|
NM_000059.4(BRCA2):c.2520G>A (p.Met840Ile)
|
SNV Germline |
Chr13:32336875 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772464 |
rs_1566226868 |
2 SubmittersRCV000774314 |
|
NM_000059.4(BRCA2):c.2556C>G (p.Asn852Lys)
|
SNV Germline |
Chr13:32336911 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772536 |
rs_1566226932 |
2 SubmittersRCV000777070 |
|
NM_000059.4(BRCA2):c.2581C>A (p.Gln861Lys)
|
SNV Germline |
Chr13:32336936 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940614 |
rs_773356478 |
4 SubmittersRCV000772736RCV002222190 |
|
NM_000059.4(BRCA2):c.2602A>C (p.Thr868Pro)
|
SNV Germline |
Chr13:32336957 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772631 |
rs_1368861313 |
4 SubmittersRCV000776901RCV000801001 |
|
NM_000059.4(BRCA2):c.2725C>T (p.Leu909Phe)
|
SNV Germline |
Chr13:32337080 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387773587 |
rs_876660858 |
5 SubmittersRCV000777493RCV000819764RCV004760778 |
|
NM_000059.4(BRCA2):c.2838T>A (p.Asp946Glu)
|
SNV Germline |
Chr13:32337193 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387773879 |
rs_149753706 |
4 SubmittersRCV000777316RCV002535604RCV004001494 |
|
NM_000059.4(BRCA2):c.2905C>A (p.Gln969Lys)
|
SNV Germline |
Chr13:32337260 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774176 |
rs_886038080 |
3 SubmittersRCV000772865 |
|
NM_000059.4(BRCA2):c.2960A>G (p.Asn987Ser)
|
SNV Germline |
Chr13:32337315 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387774449 |
rs_2227944 |
4 SubmittersRCV000774969RCV004803202 |
|
NM_000059.4(BRCA2):c.3068A>C (p.Asn1023Thr)
|
SNV Germline |
Chr13:32337423 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940659 |
rs_776196396 |
6 SubmittersRCV000772738RCV002250693RCV002536637RCV004802421 |
|
NM_000059.4(BRCA2):c.3169A>C (p.Lys1057Gln)
|
SNV Germline |
Chr13:32337524 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387775802 |
rs_1566227924 |
5 SubmittersRCV000773389RCV003645100RCV004782543 |
|
NM_000059.4(BRCA2):c.3182A>G (p.Lys1061Arg)
|
SNV Germline |
Chr13:32337537 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940673 |
rs_776099423 |
2 SubmittersRCV000772739 |
|
NM_000059.4(BRCA2):c.3200C>T (p.Thr1067Ile)
|
SNV Germline |
Chr13:32337555 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775864 |
rs_1555283092 |
4 SubmittersRCV000774531RCV005092278 |
|
NM_000059.4(BRCA2):c.3273A>C (p.Leu1091Phe)
|
SNV Germline |
Chr13:32337628 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776059 |
rs_1566228204 |
2 SubmittersRCV000772368 |
|
NM_000059.4(BRCA2):c.3296C>T (p.Ser1099Leu)
|
SNV Germline |
Chr13:32337651 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776154 |
rs_397507663 |
3 SubmittersRCV000772200 |
|
NM_000059.4(BRCA2):c.3325G>A (p.Ala1109Thr)
|
SNV Germline |
Chr13:32337680 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387776251 |
rs_752886421 |
5 SubmittersRCV000773764RCV002534095RCV003238810 |
|
NM_000059.4(BRCA2):c.3346A>C (p.Thr1116Pro)
|
SNV Germline |
Chr13:32337701 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776324 |
rs_786204212 |
4 SubmittersRCV000773034RCV001850970 |
|
NM_000059.4(BRCA2):c.3379T>C (p.Phe1127Leu)
|
SNV Germline |
Chr13:32337734 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776423 |
rs_1566228395 |
4 SubmittersRCV000777126RCV001367116 |
|
NM_000059.4(BRCA2):c.3463A>G (p.Thr1155Ala)
|
SNV Germline |
Chr13:32337818 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387776752 |
rs_1555283257 |
6 SubmittersRCV000776847RCV000985501RCV000803792RCV003453609 |
|
NM_000059.4(BRCA2):c.3598T>G (p.Cys1200Gly)
|
SNV Germline |
Chr13:32337953 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247505407 |
rs_80358607 |
3 SubmittersRCV000774657RCV001873148 |
|
NM_000059.4(BRCA2):c.3638A>G (p.Glu1213Gly)
|
SNV Germline |
Chr13:32337993 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387777927 |
rs_1566228880 |
4 SubmittersRCV000773512RCV001856052 |
|
NM_000059.4(BRCA2):c.3643G>A (p.Gly1215Arg)
|
SNV Germline |
Chr13:32337998 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387777937 |
rs_1366773950 |
4 SubmittersRCV000772219RCV001232512 |
|
NM_000059.4(BRCA2):c.3649A>T (p.Arg1217Trp)
|
SNV Germline |
Chr13:32338004 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387777951 |
rs_1410046826 |
4 SubmittersRCV000772440RCV001207043 |
|
NM_000059.4(BRCA2):c.3679C>G (p.Leu1227Val)
|
SNV Germline |
Chr13:32338034 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387778008 |
rs_1566228950 |
6 SubmittersRCV000771765RCV001856003RCV001775988RCV003999962 |
|
NM_000059.4(BRCA2):c.3713T>C (p.Val1238Ala)
|
SNV Germline |
Chr13:32338068 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778073 |
rs_1566229025 |
2 SubmittersRCV000777140 |
|
NM_000059.4(BRCA2):c.3854A>G (p.Glu1285Gly)
|
SNV Germline |
Chr13:32338209 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940730 |
rs_747103920 |
6 SubmittersRCV000771443RCV000797506RCV003483717RCV004802418 |
|
NM_000059.4(BRCA2):c.3869G>T (p.Cys1290Phe)
|
SNV Germline |
Chr13:32338224 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778702 |
rs_41293485 |
2 SubmittersRCV000772924 |
|
NM_000059.4(BRCA2):c.3893T>A (p.Ile1298Asn)
|
SNV Germline |
Chr13:32338248 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778774 |
rs_80358633 |
3 SubmittersRCV000777119 |
|
NM_000059.4(BRCA2):c.3902C>T (p.Thr1301Ile)
|
SNV Germline |
Chr13:32338257 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778796 |
rs_1455648880 |
6 SubmittersRCV000773740RCV001328440RCV001355499RCV001873133 |
|
NM_000059.4(BRCA2):c.3904A>T (p.Thr1302Ser)
|
SNV Germline |
Chr13:32338259 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940733 |
rs_543339423 |
5 SubmittersRCV000772744RCV002061072RCV004760772 |
|
NM_000059.4(BRCA2):c.3979G>T (p.Ala1327Ser)
|
SNV Germline |
Chr13:32338334 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778952 |
rs_1566229476 |
4 SubmittersRCV000775013RCV002534170 |
|
NM_000059.4(BRCA2):c.3982A>T (p.Ser1328Cys)
|
SNV Germline |
Chr13:32338337 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778958 |
rs_1566229480 |
4 SubmittersRCV000772926RCV001856034 |
|
NM_000059.4(BRCA2):c.4075A>G (p.Thr1359Ala)
|
SNV Germline |
Chr13:32338430 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779160 |
rs_1566229623 |
2 SubmittersRCV000775695 |
|
NM_000059.4(BRCA2):c.4145A>G (p.Glu1382Gly)
|
SNV Germline |
Chr13:32338500 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779969 |
rs_1566229775 |
2 SubmittersRCV000774014 |
|
NM_000059.4(BRCA2):c.4157A>G (p.Asp1386Gly)
|
SNV Germline |
Chr13:32338512 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780023 |
rs_431825316 |
2 SubmittersRCV000773632 |
|
NM_000059.4(BRCA2):c.4166T>C (p.Phe1389Ser)
|
SNV Germline |
Chr13:32338521 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387780063 |
rs_1566229818 |
4 SubmittersRCV000777337RCV003493729 |
|
NM_000059.4(BRCA2):c.4277C>A (p.Thr1426Lys)
|
SNV Germline |
Chr13:32338632 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780587 |
rs_748591104 |
3 SubmittersRCV000773584 |
|
NM_000059.4(BRCA2):c.4306A>G (p.Ile1436Val)
|
SNV Germline |
Chr13:32338661 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940768 |
rs_778282885 |
5 SubmittersRCV000772747RCV000989028RCV001217070 |
|
NM_000059.4(BRCA2):c.4353T>G (p.Asp1451Glu)
|
SNV Germline |
Chr13:32338708 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780938 |
rs_1566230114 |
2 SubmittersRCV000774029 |
|
NM_000059.4(BRCA2):c.4363G>T (p.Glu1455Ter)
|
SNV Germline |
Chr13:32338718 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Pancreatic cancer, susceptibility to, 2 Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387780978 |
rs_1566230144 |
7 SubmittersRCV000776401RCV001235864RCV002477778RCV004569466RCV005358016RCV005601103 |
|
NM_000059.4(BRCA2):c.4514C>T (p.Thr1505Ile)
|
SNV Germline |
Chr13:32338869 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781635 |
rs_1566230463 |
4 SubmittersRCV000775846RCV003530104 |
|
NM_000059.4(BRCA2):c.4669A>G (p.Thr1557Ala)
|
SNV Germline |
Chr13:32339024 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782776 |
rs_1566230921 |
2 SubmittersRCV000775967 |
|
NM_000059.4(BRCA2):c.4678A>G (p.Ser1560Gly)
|
SNV Germline |
Chr13:32339033 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782807 |
rs_1566230938 |
2 SubmittersRCV000777475 |
|
NM_000059.4(BRCA2):c.4690G>T (p.Ala1564Ser)
|
SNV Germline |
Chr13:32339045 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387782859 |
rs_1566230953 |
3 SubmittersRCV000771673RCV000796263 |
|
NM_000059.4(BRCA2):c.4717T>C (p.Cys1573Arg)
|
SNV Germline |
Chr13:32339072 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247508296 |
rs_56054233 |
3 SubmittersRCV000772751RCV003645097 |
|
NM_000059.4(BRCA2):c.4748T>C (p.Ile1583Thr)
|
SNV Germline |
Chr13:32339103 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783077 |
rs_1566231072 |
4 SubmittersRCV000772262RCV001225173 |
|
NM_000059.4(BRCA2):c.4820T>C (p.Ile1607Thr)
|
SNV Germline |
Chr13:32339175 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387783295 |
rs_1566231183 |
4 SubmittersRCV000774998RCV004822192 |
|
NM_000059.4(BRCA2):c.4850G>T (p.Ser1617Ile)
|
SNV Germline |
Chr13:32339205 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783386 |
rs_397507341 |
2 SubmittersRCV000776794 |
|
NM_000059.4(BRCA2):c.4868A>C (p.Gln1623Pro)
|
SNV Germline |
Chr13:32339223 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387783450 |
rs_75381894 |
5 SubmittersRCV000776972RCV001234641RCV004803206 |
|
NM_000059.4(BRCA2):c.4912A>G (p.Lys1638Glu)
|
SNV Germline |
Chr13:32339267 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783594 |
rs_886040553 |
3 SubmittersRCV000774220RCV003530102 |
|
NM_000059.4(BRCA2):c.4919A>C (p.His1640Pro)
|
SNV Germline |
Chr13:32339274 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783615 |
rs_373483754 |
4 SubmittersRCV000773732RCV000808987 |
|
NM_000059.4(BRCA2):c.4943C>T (p.Ala1648Val)
|
SNV Germline |
Chr13:32339298 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783721 |
rs_1449458592 |
4 SubmittersRCV000773190RCV002534052 |
|
NM_000059.4(BRCA2):c.5167A>T (p.Thr1723Ser)
|
SNV Germline |
Chr13:32339522 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784255 |
rs_80358742 |
3 SubmittersRCV000773976 |
|
NM_000059.4(BRCA2):c.5186A>G (p.Lys1729Arg)
|
SNV Germline |
Chr13:32339541 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784565 |
rs_772860507 |
2 SubmittersRCV000777045 |
|
NM_000059.4(BRCA2):c.5221A>G (p.Ser1741Gly)
|
SNV Germline |
Chr13:32339576 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784637 |
rs_1566232001 |
4 SubmittersRCV000776931RCV003645110 |
|
NM_000059.4(BRCA2):c.5258C>T (p.Ser1753Phe)
|
SNV Germline |
Chr13:32339613 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784722 |
rs_1566232073 |
2 SubmittersRCV000772526 |
|
NM_000059.4(BRCA2):c.5293A>G (p.Lys1765Glu)
|
SNV Germline |
Chr13:32339648 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784792 |
rs_879255458 |
3 SubmittersRCV000772792RCV001348718 |
|
NM_000059.4(BRCA2):c.5317G>A (p.Glu1773Lys)
|
SNV Germline |
Chr13:32339672 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387784882 |
rs_1566232201 |
4 SubmittersRCV000777419RCV001042289RCV001772036 |
|
NM_000059.4(BRCA2):c.5317G>C (p.Glu1773Gln)
|
SNV Germline |
Chr13:32339672 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387784883 |
rs_1566232201 |
5 SubmittersRCV000772421RCV003645095RCV003999967 |
|
NM_000059.4(BRCA2):c.5393A>G (p.Asn1798Ser)
|
SNV Germline |
Chr13:32339748 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785280 |
rs_1566232376 |
2 SubmittersRCV000774853 |
|
NM_000059.4(BRCA2):c.5431G>A (p.Glu1811Lys)
|
SNV Germline |
Chr13:32339786 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785481 |
rs_1566232430 |
3 SubmittersRCV000777130RCV003530106 |
|
NM_000059.4(BRCA2):c.5448C>A (p.Ser1816Arg)
|
SNV Germline |
Chr13:32339803 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785579 |
rs_1566232467 |
2 SubmittersRCV000773574 |
|
NM_000059.4(BRCA2):c.5450C>T (p.Ser1817Phe)
|
SNV Germline |
Chr13:32339805 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785593 |
rs_759741090 |
3 SubmittersRCV000776665RCV003645108 |
|
NM_000059.4(BRCA2):c.5461A>G (p.Lys1821Glu)
|
SNV Germline |
Chr13:32339816 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785641 |
rs_1566232503 |
2 SubmittersRCV000773483 |
|
NM_000059.4(BRCA2):c.5525C>T (p.Pro1842Leu)
|
SNV Germline |
Chr13:32339880 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785894 |
rs_1331207836 |
4 SubmittersRCV000777584RCV001036780 |
|
NM_000059.4(BRCA2):c.5540C>G (p.Ala1847Gly)
|
SNV Germline |
Chr13:32339895 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785935 |
rs_1566232630 |
2 SubmittersRCV000772874 |
|
NM_000059.4(BRCA2):c.5546G>C (p.Gly1849Ala)
|
SNV Germline |
Chr13:32339901 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785947 |
rs_764527357 |
2 SubmittersRCV000772380 |
|
NM_000059.4(BRCA2):c.5578A>C (p.Lys1860Gln)
|
SNV Germline |
Chr13:32339933 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786010 |
rs_431825332 |
2 SubmittersRCV000775823 |
|
NM_000059.4(BRCA2):c.5604C>T (p.Asp1868=)
|
SNV Germline |
Chr13:32339959 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483438751 |
rs_1401654517 |
4 SubmittersRCV000774480RCV001113819RCV001113820RCV001464209 |
|
NM_000059.4(BRCA2):c.5660C>G (p.Thr1887Arg)
|
SNV Germline |
Chr13:32340015 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387786180 |
rs_397507795 |
4 SubmittersRCV000774367RCV000820814RCV004773132 |
|
NM_000059.4(BRCA2):c.5757G>T (p.Lys1919Asn)
|
SNV Germline |
Chr13:32340112 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787052 |
rs_1566233164 |
4 SubmittersRCV000773451RCV001216131 |
|
NM_000059.4(BRCA2):c.5795A>T (p.His1932Leu)
|
SNV Germline |
Chr13:32340150 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787191 |
rs_1566233236 |
2 SubmittersRCV000774402 |
|
NM_000059.4(BRCA2):c.5929A>G (p.Ile1977Val)
|
SNV Germline |
Chr13:32340284 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787545 |
rs_1566233568 |
2 SubmittersRCV000771749 |
|
NM_000059.4(BRCA2):c.5968G>A (p.Asp1990Asn)
|
SNV Germline |
Chr13:32340323 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387787620 |
rs_1566233648 |
5 SubmittersRCV000776818RCV001215284RCV004001484 |
|
NM_000059.4(BRCA2):c.6026A>G (p.Gln2009Arg)
|
SNV Germline |
Chr13:32340381 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787768 |
rs_1285547765 |
3 SubmittersRCV000772961RCV001057879 |
|
NM_000059.4(BRCA2):c.6043T>C (p.Leu2015=)
|
SNV Germline |
Chr13:32340398 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483439013 |
rs_1566233782 |
3 SubmittersRCV000773622RCV000985556RCV003645102 |
|
NM_000059.4(BRCA2):c.6154T>G (p.Ser2052Ala)
|
SNV Germline |
Chr13:32340509 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788302 |
rs_1566234040 |
3 SubmittersRCV000773676 |
|
NM_000059.4(BRCA2):c.6202A>T (p.Ile2068Phe)
|
SNV Germline |
Chr13:32340557 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788837 |
rs_755523944 |
4 SubmittersRCV000772971RCV000795104 |
|
NM_000059.4(BRCA2):c.6293C>G (p.Ser2098Cys)
|
SNV Germline |
Chr13:32340648 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789015 |
rs_80358867 |
2 SubmittersRCV000773001 |
|
NM_000059.4(BRCA2):c.6365T>A (p.Met2122Lys)
|
SNV Germline |
Chr13:32340720 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789155 |
rs_1566234419 |
3 SubmittersRCV000773462 |
|
NM_000059.4(BRCA2):c.6376T>A (p.Cys2126Ser)
|
SNV Germline |
Chr13:32340731 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789182 |
rs_1566234451 |
2 SubmittersRCV000773831 |
|
NM_000059.4(BRCA2):c.6382A>G (p.Lys2128Glu)
|
SNV Germline |
Chr13:32340737 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940947 |
rs_80358875 |
7 SubmittersRCV000772759RCV000985564RCV002534032RCV004802422 |
|
NM_000059.4(BRCA2):c.6397T>C (p.Ser2133Pro)
|
SNV Germline |
Chr13:32340752 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789228 |
rs_1566234482 |
4 SubmittersRCV000771488RCV000793662 |
|
NM_000059.4(BRCA2):c.6400A>G (p.Asn2134Asp)
|
SNV Germline |
Chr13:32340755 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789234 |
rs_1434431480 |
3 SubmittersRCV000776831RCV001869114 |
|
NM_000059.4(BRCA2):c.6436A>C (p.Asn2146His)
|
SNV Germline |
Chr13:32340791 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789301 |
rs_1566234599 |
2 SubmittersRCV000773033 |
|
NM_000059.4(BRCA2):c.6437A>G (p.Asn2146Ser)
|
SNV Germline |
Chr13:32340792 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940955 |
rs_768512381 |
7 SubmittersRCV000772761RCV003153830RCV003493723RCV001856025RCV003999981 |
|
NM_000059.4(BRCA2):c.6472T>C (p.Phe2158Leu)
|
SNV Germline |
Chr13:32340827 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789402 |
rs_1566234702 |
3 SubmittersRCV000773436RCV001856049 |
|
NM_000059.4(BRCA2):c.6477A>G (p.Gln2159=)
|
SNV Germline |
Chr13:32340832 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483439047 |
rs_1566234713 |
3 SubmittersRCV000773994RCV001230495 |
|
NM_000059.4(BRCA2):c.6509A>G (p.Lys2170Arg)
|
SNV Germline |
Chr13:32340864 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387789574 |
rs_1252272917 |
5 SubmittersRCV000773364RCV001344373RCV004000006 |
|
NM_000059.4(BRCA2):c.6517C>T (p.Leu2173Phe)
|
SNV Germline |
Chr13:32340872 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789609 |
rs_1566234827 |
4 SubmittersRCV000773928RCV003768353 |
|
NM_000059.4(BRCA2):c.6635G>T (p.Cys2212Phe)
|
SNV Germline |
Chr13:32340990 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790304 |
rs_1566235052 |
2 SubmittersRCV000774972 |
|
NM_000059.4(BRCA2):c.6691G>C (p.Ala2231Pro)
|
SNV Germline |
Chr13:32341046 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940974 |
rs_758379999 |
3 SubmittersRCV000772766RCV004997279 |
|
NM_000059.4(BRCA2):c.6700T>C (p.Phe2234Leu)
|
SNV Germline |
Chr13:32341055 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940975 |
rs_769956199 |
7 SubmittersRCV000772767RCV000985571RCV002534033RCV004802423 |
|
NM_000059.4(BRCA2):c.6766T>A (p.Cys2256Ser)
|
SNV Germline |
Chr13:32341121 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387791203 |
rs_559106452 |
3 SubmittersRCV000776904RCV002298766 |
|
NM_000059.4(BRCA2):c.6781G>A (p.Glu2261Lys)
|
SNV Germline |
Chr13:32341136 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387791265 |
rs_876660812 |
4 SubmittersRCV000773485RCV001856051 |
|
NM_000059.4(BRCA2):c.7025A>C (p.Gln2342Pro)
|
SNV Germline |
Chr13:32354878 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387794132 |
rs_1555285981 |
3 SubmittersRCV000777109RCV001216834 |
|
NM_000059.4(BRCA2):c.7553T>G (p.Leu2518Arg)
|
SNV Germline |
Chr13:32356545 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387743700 |
rs_1566242089 |
2 SubmittersRCV000775318 |
|
NM_000059.4(BRCA2):c.7579G>T (p.Val2527Leu)
|
SNV Germline |
Chr13:32356571 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387743824 |
rs_1555286293 |
2 SubmittersRCV000773023 |
|
NM_000059.4(BRCA2):c.7590A>T (p.Gln2530His)
|
SNV Germline |
Chr13:32356582 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387743883 |
rs_786202429 |
2 SubmittersRCV000775693 |
|
NM_000059.4(BRCA2):c.7594C>A (p.Pro2532Thr)
|
SNV Germline |
Chr13:32356586 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387743902 |
rs_397507388 |
3 SubmittersRCV000774404RCV002536681 |
|
NM_000059.4(BRCA2):c.7601C>A (p.Ala2534Glu)
|
SNV Germline |
Chr13:32356593 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387743953 |
rs_74047012 |
3 SubmittersRCV000776756RCV005092292 |
|
NM_000059.4(BRCA2):c.7847C>T (p.Ser2616Phe)
|
SNV Germline |
Chr13:32362564 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387747040 |
rs_1174303167 |
5 SubmittersRCV000776833RCV001362915RCV005240560 |
|
NM_000059.4(BRCA2):c.7919A>G (p.Lys2640Arg)
|
SNV Germline |
Chr13:32362636 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA387747182 |
rs_397507394 |
5 SubmittersRCV000773429RCV001368345RCV001800873RCV002271584 |
|
NM_000059.4(BRCA2):c.8484A>G (p.Ile2828Met)
|
SNV Germline |
Chr13:32370554 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA247483644 |
rs_950154005 |
7 SubmittersRCV000771542RCV001060591RCV000985603RCV003461024RCV005601096 |
|
NM_000059.4(BRCA2):c.8550A>C (p.Glu2850Asp)
|
SNV Germline |
Chr13:32371018 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752778 |
rs_1566249284 |
3 SubmittersRCV000777006RCV001856139 |
|
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu)
|
SNV Germline |
Chr13:32379804 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387757458 |
rs_1566253139 |
7 SubmittersRCV000773599RCV000799463RCV003472294RCV005243351 |
|
NM_000059.4(BRCA2):c.9403C>A (p.Leu3135Ile)
|
SNV Germline |
Chr13:32394835 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761375 |
rs_55704151 |
3 SubmittersRCV000773137RCV000820508 |
|
NM_000059.4(BRCA2):c.9481A>G (p.Lys3161Glu)
|
SNV Germline |
Chr13:32394913 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761803 |
rs_80359222 |
3 SubmittersRCV000777544RCV001201868 |
|
NM_000059.4(BRCA2):c.9506T>C (p.Ile3169Thr)
|
SNV Germline |
Chr13:32396902 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762844 |
rs_1244221685 |
3 SubmittersRCV000774963RCV001873152 |
|
NM_000059.4(BRCA2):c.9671T>C (p.Ile3224Thr)
|
SNV Germline |
Chr13:32398184 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387765186 |
rs_1566260766 |
3 SubmittersRCV000777523RCV001071908 |
|
NM_000059.4(BRCA2):c.9785A>C (p.Gln3262Pro)
|
SNV Germline |
Chr13:32398298 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387765948 |
rs_1566261012 |
3 SubmittersRCV000773733RCV001037554 |
|
NM_000059.4(BRCA2):c.9856A>G (p.Ile3286Val)
|
SNV Germline |
Chr13:32398369 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387766539 |
rs_1566261093 |
3 SubmittersRCV000777068RCV001873164 |
|
NM_000059.4(BRCA2):c.10070C>G (p.Thr3357Arg)
|
SNV Germline |
Chr13:32398583 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6941469 |
rs_80358388 |
5 SubmittersRCV000772032RCV001065564RCV003317361RCV003478457 |
|
NM_000059.4(BRCA2):c.10138C>G (p.Leu3380Val)
|
SNV Germline |
Chr13:32398651 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768125 |
rs_1566261456 |
2 SubmittersRCV000775006RCV001856102 |
|
NM_000059.4(BRCA2):c.10163C>A (p.Thr3388Lys)
|
SNV Germline |
Chr13:32398676 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768204 |
rs_1431008455 |
3 SubmittersRCV000773252RCV001856043 |
|
NM_000059.4(BRCA2):c.10192C>T (p.Gln3398Ter)
|
SNV Germline |
Chr13:32398705 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387768362 |
rs_1566261530 |
4 SubmittersRCV000777586RCV001470794RCV001532897 |
|
NM_000059.4(BRCA2):c.10254C>G (p.Ile3418Met)
|
SNV Germline |
Chr13:32398767 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768718 |
rs_1566261647 |
3 SubmittersRCV000776610RCV001307275 |
|
NM_000059.4(BRCA2):c.7007+9T>C
|
SNV Germline |
Chr13:32346905 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA913188608 |
rs_1566237887 |
2 SubmittersRCV000772864RCV002465769 |
|
NM_000059.4(BRCA2):c.9117+15T>C
|
SNV Germline |
Chr13:32379928 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA913188553 |
rs_1566253419 |
2 SubmittersRCV000773407RCV002534061 |
|
NM_000059.4(BRCA2):c.7977-20A>G
|
SNV Germline |
Chr13:32363159 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA913188568 |
rs_1555286924 |
2 SubmittersRCV000774414RCV002067296 |
|
NM_000059.4(BRCA2):c.7805+6C>T
|
SNV Germline |
Chr13:32357935 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA913188544 |
rs_81002819 |
3 SubmittersRCV000774274RCV001233744RCV003316804 |
|
NM_000059.4(BRCA2):c.8487+8G>T
|
SNV Germline |
Chr13:32370565 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6941234 |
rs_81002838 |
3 SubmittersRCV000773107RCV000924771RCV003478461 |
|
NM_000059.4(BRCA2):c.8488-3C>T
|
SNV Germline |
Chr13:32370953 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA913188610 |
rs_1566249158 |
3 SubmittersRCV000774992RCV001873153 |
|
NM_000059.4(BRCA2):c.8332-13T>G
|
SNV Germline |
Chr13:32370389 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
No Assertion Criteria Provided |
CA915946893 |
rs_1593930050 |
1 SubmittersRCV000845283 |
|
NM_000059.4(BRCA2):c.8954-2A>T
|
SNV Germline |
Chr13:32379748 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387757353 |
rs_1135401928 |
2 SubmittersRCV000845285 |
|
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)
|
SNV Germline |
Chr13:32325135 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387756647 |
rs_1555280859 |
4 SubmittersRCV000781157RCV001775998RCV002343639 |
|
NM_000059.4(BRCA2):c.1153A>C (p.Lys385Gln)
|
SNV Germline |
Chr13:32332631 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761883 |
rs_80358411 |
5 SubmittersRCV000781133RCV001800882RCV003158128RCV002535689 |
|
NM_000059.4(BRCA2):c.1378A>C (p.Asn460His)
|
SNV Germline |
Chr13:32332856 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762963 |
rs_1270441968 |
6 SubmittersRCV000779960RCV001011236RCV002250695RCV003106057 |
|
NM_000059.4(BRCA2):c.1841T>C (p.Ile614Thr)
|
SNV Germline |
Chr13:32333319 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387766286 |
rs_1566224476 |
4 SubmittersRCV000780040RCV002406708RCV005092322 |
|
NM_000059.4(BRCA2):c.1876G>A (p.Glu626Lys)
|
SNV Germline |
Chr13:32333354 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766627 |
rs_1566224551 |
4 SubmittersRCV000779964RCV002535665RCV003158114 |
|
NM_000059.4(BRCA2):c.2480A>G (p.Asn827Ser)
|
SNV Germline |
Chr13:32336835 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772384 |
rs_1566226814 |
3 SubmittersRCV001035152RCV000780033RCV003158118 |
|
NM_000059.4(BRCA2):c.2633A>T (p.Asp878Val)
|
SNV Germline |
Chr13:32336988 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940617 |
rs_765618026 |
4 SubmittersRCV000781117RCV001064636RCV003158127RCV004569489 |
|
NM_000059.4(BRCA2):c.3185C>G (p.Pro1062Arg)
|
SNV Germline |
Chr13:32337540 |
Conflicting classifications of pathogenicity |
not specified Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775838 |
rs_564316199 |
5 SubmittersRCV000780005RCV001284418RCV001856181RCV002325479 |
|
NM_000059.4(BRCA2):c.3225T>G (p.Ser1075Arg)
|
SNV Germline |
Chr13:32337580 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775913 |
rs_779228375 |
2 SubmittersRCV000781085RCV003158126 |
|
NM_000059.4(BRCA2):c.3512C>T (p.Pro1171Leu)
|
SNV Germline |
Chr13:32337867 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA387777012 |
rs_1566228707 |
8 SubmittersRCV000781144RCV001856193RCV002290028RCV002458399RCV004803217RCV003492170 |
|
NM_000059.4(BRCA2):c.3796C>T (p.His1266Tyr)
|
SNV Germline |
Chr13:32338151 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778395 |
rs_1566229153 |
3 SubmittersRCV000780009RCV003158115RCV003768452 |
|
NM_000059.4(BRCA2):c.3833A>G (p.His1278Arg)
|
SNV Germline |
Chr13:32338188 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778543 |
rs_1566229217 |
2 SubmittersRCV000781044RCV003158123 |
|
NM_000059.4(BRCA2):c.3922G>A (p.Glu1308Lys)
|
SNV Germline |
Chr13:32338277 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778829 |
rs_80358638 |
2 SubmittersRCV000781136RCV003158129 |
|
NM_000059.4(BRCA2):c.3972T>G (p.Tyr1324Ter)
|
SNV Germline |
Chr13:32338327 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387778937 |
rs_1131692119 |
1 SubmittersRCV000779939 |
|
NM_000059.4(BRCA2):c.4019A>T (p.Asp1340Val)
|
SNV Germline |
Chr13:32338374 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779039 |
rs_1555283506 |
2 SubmittersRCV000780025RCV003158117 |
|
NM_000059.4(BRCA2):c.4085A>T (p.His1362Leu)
|
SNV Germline |
Chr13:32338440 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387779199 |
rs_1060502441 |
4 SubmittersRCV000781056RCV003158125RCV004803216RCV005092329 |
|
NM_000059.4(BRCA2):c.4190A>C (p.Glu1397Ala)
|
SNV Germline |
Chr13:32338545 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387780164 |
rs_1566229868 |
4 SubmittersRCV000779973RCV002332567RCV003530111 |
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
SNV Germline |
Chr13:32338665 |
Conflicting classifications of pathogenicity |
not specified 8 conditions Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780781 |
rs_1403318277 |
4 SubmittersRCV000780014RCV002487604RCV003158116 |
|
NM_000059.4(BRCA2):c.4612T>A (p.Ser1538Thr)
|
SNV Germline |
Chr13:32338967 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782014 |
rs_1566230812 |
2 SubmittersRCV000779937RCV003158113 |
|
NM_000059.4(BRCA2):c.4822G>T (p.Glu1608Ter)
|
SNV Germline |
Chr13:32339177 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Gastric cancer |
Criteria Provided Single Submitter |
CA387783300 |
rs_1566231194 |
2 SubmittersRCV000780037RCV003166068 |
|
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)
|
SNV Germline |
Chr13:32339276 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387783625 |
rs_1566231364 |
3 SubmittersRCV000779928RCV002334452 |
|
NM_000059.4(BRCA2):c.5009C>T (p.Ala1670Val)
|
SNV Germline |
Chr13:32339364 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783940 |
rs_1566231551 |
4 SubmittersRCV000780010RCV001188711 |
|
NM_000059.4(BRCA2):c.5458T>C (p.Cys1820Arg)
|
SNV Germline |
Chr13:32339813 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785626 |
rs_1566232493 |
3 SubmittersRCV000781047RCV003158124 |
|
NM_000059.4(BRCA2):c.6641C>T (p.Thr2214Ile)
|
SNV Germline |
Chr13:32340996 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790339 |
rs_1566235063 |
6 SubmittersRCV000781158RCV000795801RCV001025490 |
|
NM_000059.4(BRCA2):c.6698C>G (p.Ala2233Gly)
|
SNV Germline |
Chr13:32341053 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790626 |
rs_41293501 |
2 SubmittersRCV000780043RCV003158119 |
|
NM_000059.4(BRCA2):c.6787G>A (p.Val2263Ile)
|
SNV Germline |
Chr13:32341142 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387791295 |
rs_1566235410 |
6 SubmittersRCV001025643RCV000779956RCV001327053RCV001577122RCV004527809 |
|
NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter)
|
SNV Germline |
Chr13:32355276 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387742006 |
rs_1566241336 |
2 SubmittersRCV000781099RCV002386365 |
|
NM_000059.4(BRCA2):c.8923G>A (p.Val2975Ile)
|
SNV Germline |
Chr13:32379485 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA247493447 |
rs_1006688520 |
4 SubmittersRCV000781152RCV001869158RCV001018512RCV003493730 |
|
NM_000059.4(BRCA2):c.9748T>A (p.Ser3250Thr)
|
SNV Germline |
Chr13:32398261 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387765653 |
rs_1173590589 |
5 SubmittersRCV000781068RCV002535688RCV004027322RCV004569488RCV003478483 |
|
NM_000059.4(BRCA2):c.9648+2T>C
|
SNV Somatic |
Chr13:32397046 |
Likely pathogenic |
Ovarian neoplasm |
No Assertion Criteria Provided |
CA387763878 |
rs_1566260318 |
1 SubmittersRCV000785376 |
|
NM_000059.4(BRCA2):c.137C>G (p.Pro46Arg)
|
SNV Germline |
Chr13:32319146 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754256 |
rs_1216148236 |
3 SubmittersRCV000795320RCV001188266 |
|
NM_000059.4(BRCA2):c.314T>A (p.Leu105Ter)
|
SNV Germline |
Chr13:32319323 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387754728 |
rs_80358561 |
1 SubmittersRCV000802493 |
|
NM_000059.4(BRCA2):c.442T>A (p.Cys148Ser)
|
SNV Germline |
Chr13:32326117 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757054 |
rs_80358677 |
2 SubmittersRCV000806018RCV002332646 |
|
NM_000059.4(BRCA2):c.497A>G (p.His166Arg)
|
SNV Germline |
Chr13:32326263 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387757685 |
rs_876658364 |
3 SubmittersRCV000791834RCV002334464RCV003453638 |
|
NM_000059.4(BRCA2):c.748G>A (p.Val250Met)
|
SNV Germline |
Chr13:32330985 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387760086 |
rs_1593890284 |
5 SubmittersRCV000794730RCV001188264RCV004569531RCV004997324 |
|
NM_000059.4(BRCA2):c.855G>T (p.Lys285Asn)
|
SNV Germline |
Chr13:32332333 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760546 |
rs_1389778857 |
4 SubmittersRCV000806953RCV001189240 |
|
NM_000059.4(BRCA2):c.866A>G (p.Asn289Ser)
|
SNV Germline |
Chr13:32332344 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760584 |
rs_1593891336 |
3 SubmittersRCV000822597RCV002372354 |
|
NM_000059.4(BRCA2):c.875A>C (p.Glu292Ala)
|
SNV Germline |
Chr13:32332353 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760609 |
rs_1593891360 |
2 SubmittersRCV000821316RCV003158243 |
|
NM_000059.4(BRCA2):c.886T>A (p.Tyr296Asn)
|
SNV Germline |
Chr13:32332364 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760650 |
rs_1347459118 |
2 SubmittersRCV000814047RCV003158212 |
|
NM_000059.4(BRCA2):c.901G>T (p.Asp301Tyr)
|
SNV Germline |
Chr13:32332379 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760678 |
rs_1555281626 |
2 SubmittersRCV000822323RCV003158249 |
|
NM_000059.4(BRCA2):c.989A>G (p.Lys330Arg)
|
SNV Germline |
Chr13:32332467 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760994 |
rs_1593891700 |
2 SubmittersRCV000806356RCV003158188 |
|
NM_000059.4(BRCA2):c.1016A>G (p.Asp339Gly)
|
SNV Germline |
Chr13:32332494 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761107 |
rs_1244056899 |
3 SubmittersRCV000804389RCV001017009 |
|
NM_000059.4(BRCA2):c.1064T>C (p.Val355Ala)
|
SNV Germline |
Chr13:32332542 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761363 |
rs_1593891845 |
2 SubmittersRCV000814843RCV003158214 |
|
NM_000059.4(BRCA2):c.1281C>A (p.Asp427Glu)
|
SNV Germline |
Chr13:32332759 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762433 |
rs_772430226 |
2 SubmittersRCV000803854RCV003158174 |
|
NM_000059.4(BRCA2):c.1347T>G (p.Ile449Met)
|
SNV Germline |
Chr13:32332825 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762758 |
rs_755908353 |
2 SubmittersRCV000803832RCV003158173 |
|
NM_000059.4(BRCA2):c.1384G>T (p.Glu462Ter)
|
SNV Germline |
Chr13:32332862 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387763030 |
rs_1593892698 |
2 SubmittersRCV000815236RCV002390651 |
|
NM_000059.4(BRCA2):c.1386A>C (p.Glu462Asp)
|
SNV Germline |
Chr13:32332864 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387763041 |
rs_1593892709 |
2 SubmittersRCV000806938RCV003158191 |
|
NM_000059.4(BRCA2):c.1463T>A (p.Ile488Lys)
|
SNV Germline |
Chr13:32332941 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764373 |
rs_80358436 |
2 SubmittersRCV000802370RCV003158168 |
|
NM_000059.4(BRCA2):c.1592A>G (p.Lys531Arg)
|
SNV Germline |
Chr13:32333070 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764801 |
rs_876658771 |
2 SubmittersRCV000814013RCV003158211 |
|
NM_000059.4(BRCA2):c.1606T>A (p.Ser536Thr)
|
SNV Germline |
Chr13:32333084 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764851 |
rs_1227088794 |
3 SubmittersRCV000805866RCV002397639 |
|
NM_000059.4(BRCA2):c.1639T>A (p.Ser547Thr)
|
SNV Germline |
Chr13:32333117 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764956 |
rs_1593893412 |
2 SubmittersRCV000805775RCV003158186 |
|
NM_000059.4(BRCA2):c.1682G>T (p.Gly561Val)
|
SNV Germline |
Chr13:32333160 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765150 |
rs_1593893593 |
3 SubmittersRCV000804687RCV002397634 |
|
NM_000059.4(BRCA2):c.1718C>T (p.Ala573Val)
|
SNV Germline |
Chr13:32333196 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387765332 |
rs_1262187089 |
4 SubmittersRCV000816917RCV002397700RCV004001793 |
|
NM_000059.4(BRCA2):c.1741T>G (p.Ser581Ala)
|
SNV Germline |
Chr13:32333219 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765439 |
rs_55667299 |
2 SubmittersRCV000819863RCV003158235 |
|
NM_000059.4(BRCA2):c.1796C>G (p.Ser599Cys)
|
SNV Germline |
Chr13:32333274 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940541 |
rs_1046984 |
3 SubmittersRCV000813884RCV001805890 |
|
NM_000059.4(BRCA2):c.1802A>G (p.Lys601Arg)
|
SNV Germline |
Chr13:32333280 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765880 |
rs_1593893911 |
4 SubmittersRCV000815121RCV001525408 |
|
NM_000059.4(BRCA2):c.1871C>T (p.Ala624Val)
|
SNV Germline |
Chr13:32333349 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Ovarian cancer |
Criteria Provided Conflicting Classifications |
CA6940546 |
rs_769698255 |
5 SubmittersRCV000815133RCV002406850RCV003153856 |
|
NM_000059.4(BRCA2):c.1874T>C (p.Phe625Ser)
|
SNV Germline |
Chr13:32333352 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766610 |
rs_587779359 |
3 SubmittersRCV000795506RCV003158146 |
|
NM_000059.4(BRCA2):c.1942T>A (p.Ser648Thr)
|
SNV Germline |
Chr13:32336297 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387768372 |
rs_1593895835 |
3 SubmittersRCV000801031RCV003158164RCV003607361 |
|
NM_000059.4(BRCA2):c.1955C>T (p.Ser652Phe)
|
SNV Germline |
Chr13:32336310 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768456 |
rs_1593895864 |
2 SubmittersRCV000808092RCV003158196 |
|
NM_000059.4(BRCA2):c.1964C>T (p.Pro655Leu)
|
SNV Germline |
Chr13:32336319 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387768507 |
rs_28897712 |
5 SubmittersRCV000822326RCV003158250RCV004002840 |
|
NM_000059.4(BRCA2):c.2030C>A (p.Ser677Tyr)
|
SNV Germline |
Chr13:32336385 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768873 |
rs_1555282410 |
3 SubmittersRCV000820096RCV003150355RCV003158238 |
|
NM_000059.4(BRCA2):c.2143G>A (p.Gly715Arg)
|
SNV Germline |
Chr13:32336498 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247501456 |
rs_1007336407 |
3 SubmittersRCV000801531RCV001014596 |
|
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)
|
SNV Germline |
Chr13:32336604 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA387770890 |
rs_1555282574 |
4 SubmittersRCV000821788RCV003158246RCV002495176 |
|
NM_000059.4(BRCA2):c.2280A>C (p.Leu760Phe)
|
SNV Germline |
Chr13:32336635 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387771131 |
rs_1593896537 |
4 SubmittersRCV000816378RCV001186346RCV004702451 |
|
NM_000059.4(BRCA2):c.2406T>A (p.Asn802Lys)
|
SNV Germline |
Chr13:32336761 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771998 |
rs_1593896868 |
3 SubmittersRCV000815751RCV003158218 |
|
NM_000059.4(BRCA2):c.2413T>C (p.Ser805Pro)
|
SNV Germline |
Chr13:32336768 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772048 |
rs_1593896883 |
2 SubmittersRCV000806908RCV003158190 |
|
NM_000059.4(BRCA2):c.2429C>G (p.Thr810Ser)
|
SNV Germline |
Chr13:32336784 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772152 |
rs_80358509 |
3 SubmittersRCV000793669RCV000985480RCV003158141 |
|
NM_000059.4(BRCA2):c.2504C>T (p.Pro835Leu)
|
SNV Germline |
Chr13:32336859 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772431 |
rs_1593897100 |
3 SubmittersRCV000796259RCV003158149 |
|
NM_000059.4(BRCA2):c.2506C>T (p.Pro836Ser)
|
SNV Germline |
Chr13:32336861 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772435 |
rs_1593897105 |
3 SubmittersRCV000792341RCV002424793 |
|
NM_000059.4(BRCA2):c.2512A>T (p.Lys838Ter)
|
SNV Germline |
Chr13:32336867 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387772446 |
rs_747578057 |
2 SubmittersRCV000800380RCV000989013 |
|
NM_000059.4(BRCA2):c.2544G>C (p.Lys848Asn)
|
SNV Germline |
Chr13:32336899 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772510 |
rs_78879762 |
3 SubmittersRCV000821730RCV002427062 |
|
NM_000059.4(BRCA2):c.2574A>C (p.Arg858Ser)
|
SNV Germline |
Chr13:32336929 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772574 |
rs_1593897255 |
2 SubmittersRCV000810185RCV003158199 |
|
NM_000059.4(BRCA2):c.2580C>G (p.Ile860Met)
|
SNV Germline |
Chr13:32336935 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772587 |
rs_1593897261 |
3 SubmittersRCV000800875RCV002234722RCV003158163 |
|
NM_000059.4(BRCA2):c.2651C>T (p.Ser884Leu)
|
SNV Germline |
Chr13:32337006 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940620 |
rs_777421358 |
5 SubmittersRCV000814978RCV001016215RCV004001769RCV005367585 |
|
NM_000059.4(BRCA2):c.2672T>A (p.Val891Asp)
|
SNV Germline |
Chr13:32337027 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773391 |
rs_1593897497 |
5 SubmittersRCV000803661RCV001526975RCV001180889 |
|
NM_000059.4(BRCA2):c.2689G>C (p.Glu897Gln)
|
SNV Germline |
Chr13:32337044 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773452 |
rs_979372317 |
3 SubmittersRCV000822513RCV002453896 |
|
NM_000059.4(BRCA2):c.2782G>A (p.Val928Ile)
|
SNV Germline |
Chr13:32337137 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387773708 |
rs_1593897751 |
3 SubmittersRCV000802528RCV003158170RCV004803232 |
|
NM_000059.4(BRCA2):c.2892A>C (p.Lys964Asn)
|
SNV Germline |
Chr13:32337247 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774126 |
rs_587778119 |
2 SubmittersRCV000818818RCV003158232 |
|
NM_000059.4(BRCA2):c.2956A>G (p.Asn986Asp)
|
SNV Germline |
Chr13:32337311 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940649 |
rs_760142268 |
4 SubmittersRCV000818579RCV003158230RCV004001813 |
|
NM_000059.4(BRCA2):c.2962G>T (p.Asp988Tyr)
|
SNV Germline |
Chr13:32337317 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774466 |
rs_1593898237 |
2 SubmittersRCV000807939RCV003158194 |
|
NM_000059.4(BRCA2):c.3011G>A (p.Ser1004Asn)
|
SNV Germline |
Chr13:32337366 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774747 |
rs_1593898366 |
3 SubmittersRCV000793104RCV001191420 |
|
NM_000059.4(BRCA2):c.3043A>C (p.Lys1015Gln)
|
SNV Germline |
Chr13:32337398 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775011 |
rs_397507652 |
2 SubmittersRCV000808370RCV003158197 |
|
NM_000059.4(BRCA2):c.3054G>C (p.Lys1018Asn)
|
SNV Germline |
Chr13:32337409 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775082 |
rs_368404583 |
2 SubmittersRCV000820687RCV003158241 |
|
NM_000059.4(BRCA2):c.3064C>A (p.His1022Asn)
|
SNV Germline |
Chr13:32337419 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775123 |
rs_765882871 |
2 SubmittersRCV000819707RCV003158234 |
|
NM_000059.4(BRCA2):c.3081C>A (p.Ser1027Arg)
|
SNV Germline |
Chr13:32337436 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775216 |
rs_1593898540 |
2 SubmittersRCV000792575RCV003158133 |
|
NM_000059.4(BRCA2):c.3094A>T (p.Lys1032Ter)
|
SNV Germline |
Chr13:32337449 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387775297 |
rs_1593898563 |
1 SubmittersRCV000812292 |
|
NM_000059.4(BRCA2):c.3125T>C (p.Leu1042Ser)
|
SNV Germline |
Chr13:32337480 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775714 |
rs_1593898642 |
2 SubmittersRCV000806071RCV003158187 |
|
NM_000059.4(BRCA2):c.3139A>G (p.Ile1047Val)
|
SNV Germline |
Chr13:32337494 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775744 |
rs_1593898670 |
2 SubmittersRCV000797217RCV003158152 |
|
NM_000059.4(BRCA2):c.3172A>C (p.Lys1058Gln)
|
SNV Germline |
Chr13:32337527 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775809 |
rs_730881521 |
4 SubmittersRCV000817759RCV001192229 |
|
NM_000059.4(BRCA2):c.3320A>C (p.Gln1107Pro)
|
SNV Germline |
Chr13:32337675 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776237 |
rs_1593899174 |
4 SubmittersRCV000804215RCV002325556 |
|
NM_000059.4(BRCA2):c.3352T>G (p.Leu1118Val)
|
SNV Germline |
Chr13:32337707 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776348 |
rs_1593899300 |
3 SubmittersRCV000799918RCV003158159 |
|
NM_000059.4(BRCA2):c.3355G>C (p.Glu1119Gln)
|
SNV Germline |
Chr13:32337710 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776360 |
rs_1593899314 |
2 SubmittersRCV000816667RCV003158221 |
|
NM_000059.4(BRCA2):c.3400A>G (p.Ser1134Gly)
|
SNV Germline |
Chr13:32337755 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776469 |
rs_1593899420 |
2 SubmittersRCV000823869RCV003158253 |
|
NM_000059.4(BRCA2):c.3448A>T (p.Thr1150Ser)
|
SNV Germline |
Chr13:32337803 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247505019 |
rs_367789070 |
2 SubmittersRCV000804974RCV003158180 |
|
NM_000059.4(BRCA2):c.3491T>A (p.Leu1164His)
|
SNV Germline |
Chr13:32337846 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940700 |
rs_746847103 |
2 SubmittersRCV000821736RCV003158245 |
|
NM_000059.4(BRCA2):c.3514T>G (p.Ser1172Ala)
|
SNV Germline |
Chr13:32337869 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777019 |
rs_1593899773 |
2 SubmittersRCV000793238RCV003158139 |
|
NM_000059.4(BRCA2):c.3530A>C (p.Asp1177Ala)
|
SNV Germline |
Chr13:32337885 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940702 |
rs_761130568 |
3 SubmittersRCV000818474RCV001020540 |
|
NM_000059.4(BRCA2):c.3554C>T (p.Thr1185Ile)
|
SNV Germline |
Chr13:32337909 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387777248 |
rs_1593899867 |
4 SubmittersRCV000804164RCV003158176RCV005359556 |
|
NM_000059.4(BRCA2):c.3569G>T (p.Arg1190Leu)
|
SNV Germline |
Chr13:32337924 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777328 |
rs_80358605 |
2 SubmittersRCV000824635RCV003158256 |
|
NM_000059.4(BRCA2):c.3600T>A (p.Cys1200Ter)
|
SNV Germline |
Chr13:32337955 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387777493 |
rs_786203359 |
2 SubmittersRCV000811958RCV000985508 |
|
NM_000059.4(BRCA2):c.3635A>G (p.Asn1212Ser)
|
SNV Germline |
Chr13:32337990 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777920 |
rs_80358609 |
3 SubmittersRCV000824352RCV002453905 |
|
NM_000059.4(BRCA2):c.3650G>C (p.Arg1217Thr)
|
SNV Germline |
Chr13:32338005 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777953 |
rs_1306577496 |
2 SubmittersRCV000795630RCV003158147 |
|
NM_000059.4(BRCA2):c.3709G>A (p.Ala1237Thr)
|
SNV Germline |
Chr13:32338064 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778065 |
rs_398122770 |
3 SubmittersRCV000794603RCV003158144 |
|
NM_000059.4(BRCA2):c.3822G>T (p.Lys1274Asn)
|
SNV Germline |
Chr13:32338177 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778493 |
rs_1555283410 |
2 SubmittersRCV000804303RCV003158177 |
|
NM_000059.4(BRCA2):c.3827A>G (p.Glu1276Gly)
|
SNV Germline |
Chr13:32338182 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778517 |
rs_1060502487 |
6 SubmittersRCV000794044RCV000985513RCV001021235 |
|
NM_000059.4(BRCA2):c.3859A>T (p.Asn1287Tyr)
|
SNV Germline |
Chr13:32338214 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387778655 |
rs_1566229283 |
6 SubmittersRCV000813451RCV001021305RCV003322828 |
|
NM_000059.4(BRCA2):c.3932A>G (p.Glu1311Gly)
|
SNV Germline |
Chr13:32338287 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778852 |
rs_1593900953 |
3 SubmittersRCV000807530RCV002370154 |
|
NM_000059.4(BRCA2):c.3950C>T (p.Thr1317Ile)
|
SNV Germline |
Chr13:32338305 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778892 |
rs_1593901002 |
2 SubmittersRCV000815820RCV003158219 |
|
NM_000059.4(BRCA2):c.3968A>G (p.Lys1323Arg)
|
SNV Germline |
Chr13:32338323 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387778927 |
rs_1593901051 |
4 SubmittersRCV000795521RCV002325513RCV003478492 |
|
NM_000059.4(BRCA2):c.4031A>C (p.Asn1344Thr)
|
SNV Germline |
Chr13:32338386 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779065 |
rs_1593901214 |
3 SubmittersRCV000792764RCV003158134 |
|
NM_000059.4(BRCA2):c.4042T>A (p.Cys1348Ser)
|
SNV Germline |
Chr13:32338397 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940741 |
rs_199863034 |
3 SubmittersRCV000792854RCV003158135 |
|
NM_000059.4(BRCA2):c.4063G>A (p.Asp1355Asn)
|
SNV Germline |
Chr13:32338418 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779137 |
rs_1593901299 |
3 SubmittersRCV000821925RCV003158247 |
|
NM_000059.4(BRCA2):c.4220A>G (p.Glu1407Gly)
|
SNV Germline |
Chr13:32338575 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780302 |
rs_1593901726 |
4 SubmittersRCV000817887RCV001805894 |
|
NM_000059.4(BRCA2):c.4256A>T (p.Lys1419Ile)
|
SNV Germline |
Chr13:32338611 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387780462 |
rs_1593901833 |
3 SubmittersRCV000797911RCV003158153RCV004997333 |
|
NM_000059.4(BRCA2):c.4268C>T (p.Thr1423Ile)
|
SNV Germline |
Chr13:32338623 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780533 |
rs_1593901864 |
5 SubmittersRCV000824190RCV001022181 |
|
NM_000059.4(BRCA2):c.4281T>G (p.Phe1427Leu)
|
SNV Germline |
Chr13:32338636 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780616 |
rs_1593901912 |
2 SubmittersRCV000793051RCV003158138 |
|
NM_000059.4(BRCA2):c.4351G>A (p.Asp1451Asn)
|
SNV Germline |
Chr13:32338706 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780929 |
rs_1593902107 |
2 SubmittersRCV000794166RCV003158143 |
|
NM_000059.4(BRCA2):c.4384T>G (p.Leu1462Val)
|
SNV Germline |
Chr13:32338739 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781064 |
rs_1593902198 |
3 SubmittersRCV000816482RCV001022395 |
|
NM_000059.4(BRCA2):c.4442A>T (p.Glu1481Val)
|
SNV Germline |
Chr13:32338797 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781343 |
rs_1593902385 |
2 SubmittersRCV000793500RCV003158140 |
|
NM_000059.4(BRCA2):c.4451A>G (p.Asp1484Gly)
|
SNV Germline |
Chr13:32338806 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781373 |
rs_1327059542 |
3 SubmittersRCV000795494RCV001188267 |
|
NM_000059.4(BRCA2):c.4582A>G (p.Ser1528Gly)
|
SNV Germline |
Chr13:32338937 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781906 |
rs_1593902831 |
2 SubmittersRCV000803666RCV003158172 |
|
NM_000059.4(BRCA2):c.4612T>C (p.Ser1538Pro)
|
SNV Germline |
Chr13:32338967 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782016 |
rs_1566230812 |
3 SubmittersRCV000821646RCV003158244 |
|
NM_000059.4(BRCA2):c.4696A>T (p.Thr1566Ser)
|
SNV Germline |
Chr13:32339051 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782883 |
rs_1555283904 |
2 SubmittersRCV000820718RCV003158242 |
|
NM_000059.4(BRCA2):c.4735G>A (p.Ala1579Thr)
|
SNV Germline |
Chr13:32339090 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783036 |
rs_1566231045 |
2 SubmittersRCV000807955RCV003158195 |
|
NM_000059.4(BRCA2):c.4808A>C (p.Asn1603Thr)
|
SNV Germline |
Chr13:32339163 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783274 |
rs_890665355 |
2 SubmittersRCV000792219RCV003158132 |
|
NM_000059.4(BRCA2):c.4849A>G (p.Ser1617Gly)
|
SNV Germline |
Chr13:32339204 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783381 |
rs_80358707 |
2 SubmittersRCV000822052RCV003158248 |
|
NM_000059.4(BRCA2):c.4853A>G (p.Asp1618Gly)
|
SNV Germline |
Chr13:32339208 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783397 |
rs_1593903587 |
2 SubmittersRCV000804509RCV003158178 |
|
NM_000059.4(BRCA2):c.4906A>C (p.Lys1636Gln)
|
SNV Germline |
Chr13:32339261 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783572 |
rs_398122788 |
2 SubmittersRCV000811045RCV003158204 |
|
NM_000059.4(BRCA2):c.4907A>G (p.Lys1636Arg)
|
SNV Germline |
Chr13:32339262 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783577 |
rs_1593903754 |
2 SubmittersRCV000799810RCV003158158 |
|
NM_000059.4(BRCA2):c.4923A>C (p.Glu1641Asp)
|
SNV Germline |
Chr13:32339278 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783633 |
rs_1566231372 |
3 SubmittersRCV000818758RCV001023272 |
|
NM_000059.4(BRCA2):c.4952C>A (p.Pro1651His)
|
SNV Germline |
Chr13:32339307 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783760 |
rs_565268514 |
4 SubmittersRCV000811504RCV001597217RCV003158205 |
|
NM_000059.4(BRCA2):c.5029A>G (p.Arg1677Gly)
|
SNV Germline |
Chr13:32339384 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387783978 |
rs_1593904196 |
4 SubmittersRCV000820530RCV002336708RCV004803268 |
|
NM_000059.4(BRCA2):c.5036C>G (p.Thr1679Ser)
|
SNV Germline |
Chr13:32339391 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783992 |
rs_1593904210 |
2 SubmittersRCV000801443RCV003158166 |
|
NM_000059.4(BRCA2):c.5048A>C (p.Gln1683Pro)
|
SNV Germline |
Chr13:32339403 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784015 |
rs_587782738 |
2 SubmittersRCV000819147RCV003158233 |
|
NM_000059.4(BRCA2):c.5077C>T (p.Leu1693Phe)
|
SNV Germline |
Chr13:32339432 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784077 |
rs_1593904331 |
2 SubmittersRCV000792020RCV003158131 |
|
NM_000059.4(BRCA2):c.5086G>A (p.Gly1696Arg)
|
SNV Germline |
Chr13:32339441 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784089 |
rs_1593904356 |
3 SubmittersRCV001023511RCV000791533 |
|
NM_000059.4(BRCA2):c.5108A>G (p.Glu1703Gly)
|
SNV Germline |
Chr13:32339463 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784133 |
rs_746177907 |
2 SubmittersRCV000803856RCV003158175 |
|
NM_000059.4(BRCA2):c.5135G>A (p.Gly1712Glu)
|
SNV Germline |
Chr13:32339490 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784184 |
rs_1453037467 |
3 SubmittersRCV000798735RCV002334506 |
|
NM_000059.4(BRCA2):c.5146T>C (p.Tyr1716His)
|
SNV Germline |
Chr13:32339501 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784210 |
rs_1593904536 |
4 SubmittersRCV000810197RCV002336665 |
|
NM_000059.4(BRCA2):c.5174C>T (p.Ala1725Val)
|
SNV Germline |
Chr13:32339529 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387784538 |
rs_1593904638 |
5 SubmittersRCV000817832RCV003158225RCV004689896RCV004720006 |
|
NM_000059.4(BRCA2):c.5211T>A (p.Asp1737Glu)
|
SNV Germline |
Chr13:32339566 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784616 |
rs_1593904769 |
2 SubmittersRCV000815694RCV003158217 |
|
NM_000059.4(BRCA2):c.5213C>A (p.Thr1738Asn)
|
SNV Germline |
Chr13:32339568 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784622 |
rs_1593904785 |
3 SubmittersRCV000823385RCV003158251 |
|
NM_000059.4(BRCA2):c.5294A>G (p.Lys1765Arg)
|
SNV Germline |
Chr13:32339649 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784796 |
rs_1593905069 |
2 SubmittersRCV000793010RCV003158137 |
|
NM_000059.4(BRCA2):c.5312G>C (p.Gly1771Ala)
|
SNV Germline |
Chr13:32339667 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784868 |
rs_80358755 |
3 SubmittersRCV000821740RCV001023906 |
|
NM_000059.4(BRCA2):c.5385A>T (p.Lys1795Asn)
|
SNV Germline |
Chr13:32339740 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785231 |
rs_1593905343 |
3 SubmittersRCV000823594RCV003158252 |
|
NM_000059.4(BRCA2):c.5427C>A (p.Cys1809Ter)
|
SNV Germline |
Chr13:32339782 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387785456 |
rs_80359791 |
1 SubmittersRCV000817829 |
|
NM_000059.4(BRCA2):c.5487G>C (p.Leu1829Phe)
|
SNV Germline |
Chr13:32339842 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785744 |
rs_779967765 |
3 SubmittersRCV000810669RCV003158203 |
|
NM_000059.4(BRCA2):c.5500A>T (p.Ser1834Cys)
|
SNV Germline |
Chr13:32339855 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785794 |
rs_760602053 |
3 SubmittersRCV000795909RCV003158148 |
|
NM_000059.4(BRCA2):c.5514G>T (p.Glu1838Asp)
|
SNV Germline |
Chr13:32339869 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785853 |
rs_1593905671 |
2 SubmittersRCV000805672RCV003158185 |
|
NM_000059.4(BRCA2):c.5518G>A (p.Gly1840Arg)
|
SNV Germline |
Chr13:32339873 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387785870 |
rs_398122533 |
4 SubmittersRCV000813362RCV003158210RCV003994125 |
|
NM_000059.4(BRCA2):c.5624A>C (p.Lys1875Thr)
|
SNV Germline |
Chr13:32339979 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940890 |
rs_587782583 |
6 SubmittersRCV000791555RCV001182539RCV002250697RCV005243360 |
|
NM_000059.4(BRCA2):c.5807T>G (p.Met1936Arg)
|
SNV Germline |
Chr13:32340162 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787240 |
rs_1376128381 |
2 SubmittersRCV000792996RCV003158136 |
|
NM_000059.4(BRCA2):c.5819A>G (p.Glu1940Gly)
|
SNV Germline |
Chr13:32340174 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387787280 |
rs_1593906648 |
4 SubmittersRCV000800782RCV002352359RCV004001638 |
|
NM_000059.4(BRCA2):c.5835A>G (p.Ile1945Met)
|
SNV Germline |
Chr13:32340190 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387787340 |
rs_1593906680 |
4 SubmittersRCV000817783RCV002352440RCV004001808 |
|
NM_000059.4(BRCA2):c.5885T>G (p.Ile1962Arg)
|
SNV Germline |
Chr13:32340240 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787469 |
rs_1060502377 |
2 SubmittersRCV000805492RCV003158183 |
|
NM_000059.4(BRCA2):c.5912C>T (p.Ser1971Phe)
|
SNV Germline |
Chr13:32340267 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787516 |
rs_1593906913 |
3 SubmittersRCV000819622RCV002352449 |
|
NM_000059.4(BRCA2):c.5936G>A (p.Ser1979Asn)
|
SNV Germline |
Chr13:32340291 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA501053 |
rs_1593906980 |
3 SubmittersRCV000793447RCV002352317 |
|
NM_000059.4(BRCA2):c.6076A>T (p.Thr2026Ser)
|
SNV Germline |
Chr13:32340431 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787992 |
rs_587782249 |
4 SubmittersRCV000807367RCV001024864 |
|
NM_000059.4(BRCA2):c.6130G>C (p.Gly2044Arg)
|
SNV Germline |
Chr13:32340485 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788204 |
rs_1593907627 |
3 SubmittersRCV000791734RCV003158130 |
|
NM_000059.4(BRCA2):c.6224A>G (p.Lys2075Arg)
|
SNV Germline |
Chr13:32340579 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387788879 |
rs_1593907916 |
3 SubmittersRCV000820445RCV003158240RCV004777900 |
|
NM_000059.4(BRCA2):c.6232G>T (p.Gly2078Ter)
|
SNV Germline |
Chr13:32340587 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387788894 |
rs_1555284605 |
3 SubmittersRCV000791739RCV003472331RCV005251223 |
|
NM_000059.4(BRCA2):c.6260G>C (p.Arg2087Thr)
|
SNV Germline |
Chr13:32340615 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788948 |
rs_1593908026 |
3 SubmittersRCV000801266RCV003158165 |
|
NM_000059.4(BRCA2):c.6319C>A (p.Pro2107Thr)
|
SNV Germline |
Chr13:32340674 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789060 |
rs_1593908231 |
6 SubmittersRCV001759593RCV000817607RCV001177191 |
|
NM_000059.4(BRCA2):c.6406T>G (p.Leu2136Val)
|
SNV Germline |
Chr13:32340761 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387789249 |
rs_1231977477 |
4 SubmittersRCV000822457RCV002363169RCV005408000 |
|
NM_000059.4(BRCA2):c.6422G>T (p.Gly2141Val)
|
SNV Germline |
Chr13:32340777 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940951 |
rs_756885337 |
3 SubmittersRCV000807839RCV001191355 |
|
NM_000059.4(BRCA2):c.6446T>G (p.Ile2149Ser)
|
SNV Germline |
Chr13:32340801 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789322 |
rs_1593908714 |
2 SubmittersRCV000814468RCV003158213 |
|
NM_000059.4(BRCA2):c.6455C>G (p.Ser2152Cys)
|
SNV Germline |
Chr13:32340810 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789339 |
rs_80358881 |
2 SubmittersRCV000818496RCV003158228 |
|
NM_000059.4(BRCA2):c.6529A>G (p.Ile2177Val)
|
SNV Germline |
Chr13:32340884 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387789658 |
rs_1593908997 |
4 SubmittersRCV000799468RCV001577655RCV003158157RCV004001626 |
|
NM_000059.4(BRCA2):c.6704T>C (p.Met2235Thr)
|
SNV Germline |
Chr13:32341059 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790962 |
rs_1593909552 |
3 SubmittersRCV000811850RCV003158206 |
|
NM_000059.4(BRCA2):c.6751C>T (p.His2251Tyr)
|
SNV Germline |
Chr13:32341106 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791141 |
rs_1260385979 |
3 SubmittersRCV000795503RCV001025612 |
|
NM_000059.4(BRCA2):c.6766T>C (p.Cys2256Arg)
|
SNV Germline |
Chr13:32341121 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940981 |
rs_559106452 |
4 SubmittersRCV000820020RCV003158236RCV005604799 |
|
NM_000059.4(BRCA2):c.7399G>A (p.Ala2467Thr)
|
SNV Germline |
Chr13:32355252 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387741823 |
rs_1593918596 |
2 SubmittersRCV000793625RCV002386386 |
|
NM_000059.4(BRCA2):c.7526G>C (p.Ser2509Thr)
|
SNV Germline |
Chr13:32356518 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387743563 |
rs_1555286271 |
2 SubmittersRCV000809688RCV005520351 |
|
NM_000059.4(BRCA2):c.7649T>A (p.Ile2550Lys)
|
SNV Germline |
Chr13:32357773 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387744909 |
rs_1593920698 |
2 SubmittersRCV000823278RCV002390705 |
|
NM_000059.4(BRCA2):c.7714A>G (p.Ser2572Gly)
|
SNV Germline |
Chr13:32357838 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387745375 |
rs_1060502442 |
3 SubmittersRCV000820515RCV001178490 |
|
NM_000059.4(BRCA2):c.7953G>C (p.Arg2651Ser)
|
SNV Germline |
Chr13:32362670 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387747251 |
rs_752351454 |
3 SubmittersRCV000795905RCV001026992RCV003478493 |
|
NM_000059.4(BRCA2):c.8138C>A (p.Thr2713Asn)
|
SNV Germline |
Chr13:32363340 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387749469 |
rs_994319321 |
5 SubmittersRCV000815932RCV003166348RCV003461238RCV004792522 |
|
NM_000059.4(BRCA2):c.8189C>G (p.Ala2730Gly)
|
SNV Germline |
Chr13:32363391 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Malignant tumor of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387749682 |
rs_80359067 |
4 SubmittersRCV000818861RCV001356617RCV003344077 |
|
NM_000059.4(BRCA2):c.8213C>T (p.Ala2738Val)
|
SNV Germline |
Chr13:32363415 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387749790 |
rs_1555287046 |
2 SubmittersRCV000816448RCV001027291 |
|
NM_000059.4(BRCA2):c.8348C>T (p.Thr2783Ile)
|
SNV Germline |
Chr13:32370418 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387752383 |
rs_1555287610 |
3 SubmittersRCV000814257RCV001776028RCV002406846 |
|
NM_000059.4(BRCA2):c.8567A>T (p.Glu2856Val)
|
SNV Germline |
Chr13:32371035 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387752814 |
rs_11571747 |
2 SubmittersRCV000792539RCV003344045 |
|
NM_000059.4(BRCA2):c.8605A>C (p.Ile2869Leu)
|
SNV Germline |
Chr13:32371073 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387752901 |
rs_1593931261 |
2 SubmittersRCV000793364RCV001018083 |
|
NM_000059.4(BRCA2):c.8686C>A (p.Arg2896Ser)
|
SNV Germline |
Chr13:32376723 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754792 |
rs_373203204 |
2 SubmittersRCV000799956RCV001018177 |
|
NM_000059.4(BRCA2):c.9340A>G (p.Ile3114Val)
|
SNV Germline |
Chr13:32394772 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387761045 |
rs_1555289545 |
3 SubmittersRCV000813020RCV002372286RCV003461213 |
|
NM_000059.4(BRCA2):c.9368G>A (p.Ser3123Asn)
|
SNV Germline |
Chr13:32394800 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761182 |
rs_1593199801 |
2 SubmittersRCV000803638RCV004028150 |
|
NM_000059.4(BRCA2):c.9667G>T (p.Glu3223Ter)
|
SNV Germline |
Chr13:32398180 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387765158 |
rs_1593201632 |
1 SubmittersRCV000792617 |
|
NM_000059.4(BRCA2):c.9971C>A (p.Pro3324Gln)
|
SNV Germline |
Chr13:32398484 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387767460 |
rs_1593202112 |
3 SubmittersRCV000795986RCV001198192RCV002386398 |
|
NM_000059.4(BRCA2):c.10078A>G (p.Lys3360Glu)
|
SNV Germline |
Chr13:32398591 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387767917 |
rs_1593202262 |
4 SubmittersRCV000803795RCV001009673RCV002268293 |
|
NM_000059.4(BRCA2):c.10232C>G (p.Thr3411Arg)
|
SNV Germline |
Chr13:32398745 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA247509748 |
rs_864622402 |
5 SubmittersRCV000813844RCV001175787RCV004001755RCV004800600 |
|
NM_000059.4(BRCA2):c.7976+1G>T
|
SNV Germline |
Chr13:32362694 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387747374 |
rs_81002873 |
4 SubmittersRCV000823129RCV000995059RCV002415943 |
|
NM_000059.4(BRCA2):c.7007+2T>G
|
SNV Germline |
Chr13:32346898 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387793206 |
rs_886040937 |
3 SubmittersRCV001525988RCV000797902 |
|
NM_000059.4(BRCA2):c.476-10T>A
|
SNV Germline |
Chr13:32326232 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA915946938 |
rs_1593886998 |
4 SubmittersRCV000808777RCV001177507RCV004803246RCV005359564 |
|
NM_000059.4(BRCA2):c.-40+2T>C
|
SNV Germline |
Chr13:32315669 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 |
Criteria Provided Conflicting Classifications |
CA915946915 |
rs_1593879845 |
4 SubmittersRCV000797145RCV002352335RCV003330094 |
|
NM_000059.4(BRCA2):c.6841+1G>A
|
SNV Germline |
Chr13:32341197 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA6940991 |
rs_773863936 |
2 SubmittersRCV000815333 |
|
NM_000059.4(BRCA2):c.7008-1G>C
|
SNV Germline |
Chr13:32354860 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387794065 |
rs_786204280 |
1 SubmittersRCV000795988 |
|
NM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter)
|
SNV Germline/somatic |
Chr13:32398297 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Malignant tumor of urinary bladder |
Criteria Provided Single Submitter |
CA387765945 |
rs_1566261010 |
2 SubmittersRCV000826157RCV003332267 |
|
NM_000059.4(BRCA2):c.6841+2T>G
|
SNV Germline |
Chr13:32341198 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Breast carcinoma Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387791538 |
rs_1593909960 |
3 SubmittersRCV001378758RCV000850288RCV003169081 |
|
NM_000059.4(BRCA2):c.2632G>C (p.Asp878His)
|
SNV Germline |
Chr13:32336987 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773231 |
rs_1593897379 |
5 SubmittersRCV001005029RCV001805906RCV002064416 |
|
NM_000059.4(BRCA2):c.469A>T (p.Lys157Ter)
|
SNV Germline |
Chr13:32326144 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387757235 |
rs_1593886887 |
2 SubmittersRCV000856669RCV002064424 |
|
NM_000059.4(BRCA2):c.5603A>G (p.Asp1868Gly)
|
SNV Germline |
Chr13:32339958 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387786066 |
rs_1170821828 |
4 SubmittersRCV001405999RCV003158257RCV004997499 |
|
NM_000059.4(BRCA2):c.9257-11T>G
|
SNV Germline |
Chr13:32394678 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA915948624 |
rs_1593199545 |
3 SubmittersRCV001492632RCV003232161RCV005236432 |
|
NM_000059.4(BRCA2):c.1662T>C (p.Cys554=)
|
SNV Germline |
Chr13:32333140 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483436551 |
rs_80358451 |
3 SubmittersRCV000942458RCV001401547RCV002400080 |
|
NM_000059.4(BRCA2):c.4035T>C (p.Asp1345=)
|
SNV Germline |
Chr13:32338390 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Inherited breast cancer and ovarian cancer |
Criteria Provided Conflicting Classifications |
CA483438115 |
rs_1304787573 |
3 SubmittersRCV000943980RCV004004329RCV005253659 |
|
NM_000059.4(BRCA2):c.9753G>A (p.Lys3251=)
|
SNV Germline |
Chr13:32398266 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483439958 |
rs_730881576 |
3 SubmittersRCV001422060RCV004003275RCV003169390 |
|
NM_000059.4(BRCA2):c.8954-6A>G
|
SNV Germline |
Chr13:32379744 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA913188534 |
rs_1593937220 |
2 SubmittersRCV001176574RCV001423011 |
|
NM_000059.4(BRCA2):c.317-17T>A
|
SNV Germline |
Chr13:32325059 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA913188535 |
rs_1593885822 |
4 SubmittersRCV000975297RCV001280618RCV001189537 |
|
NM_000059.4(BRCA2):c.5219T>G (p.Leu1740Ter)
|
SNV Germline |
Chr13:32339574 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA387784634 |
rs_1593904834 |
1 SubmittersRCV000984803 |
|
NM_000059.4(BRCA2):c.939T>C (p.Ser313=)
|
SNV Germline |
Chr13:32332417 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA483436346 |
rs_1593891536 |
6 SubmittersRCV000985627RCV001184395RCV001192452RCV001430626RCV004004411 |
|
NM_000059.4(BRCA2):c.1071A>G (p.Glu357=)
|
SNV Germline |
Chr13:32332549 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483436625 |
rs_1593891870 |
2 SubmittersRCV000985460RCV003645121 |
|
NM_000059.4(BRCA2):c.1085A>G (p.Asp362Gly)
|
SNV Germline |
Chr13:32332563 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761478 |
rs_561004600 |
3 SubmittersRCV000985461RCV001017162 |
|
NM_000059.4(BRCA2):c.2072C>A (p.Ala691Glu)
|
SNV Germline |
Chr13:32336427 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387769073 |
rs_868546240 |
2 SubmittersRCV000985470RCV003158262 |
|
NM_000059.4(BRCA2):c.2321C>A (p.Thr774Asn)
|
SNV Germline |
Chr13:32336676 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771445 |
rs_1239876081 |
3 SubmittersRCV000985475RCV002445143 |
|
NM_000059.4(BRCA2):c.2418T>G (p.Asp806Glu)
|
SNV Germline |
Chr13:32336773 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772081 |
rs_1131692107 |
3 SubmittersRCV000985479RCV001328466RCV003158263 |
|
NM_000059.4(BRCA2):c.2474A>G (p.Asn825Ser)
|
SNV Germline |
Chr13:32336829 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387772368 |
rs_1593897016 |
5 SubmittersRCV000985481RCV001365273RCV003158264RCV003317405 |
|
NM_000059.4(BRCA2):c.2477A>C (p.Glu826Ala)
|
SNV Germline |
Chr13:32336832 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772377 |
rs_1214763097 |
4 SubmittersRCV000985482RCV001858621RCV002454231 |
|
NM_000059.4(BRCA2):c.2569C>G (p.Leu857Val)
|
SNV Germline |
Chr13:32336924 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772566 |
rs_767596766 |
5 SubmittersRCV000985483RCV001054996RCV003158265 |
|
NM_000059.4(BRCA2):c.2635T>C (p.Ser879Pro)
|
SNV Germline |
Chr13:32336990 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940618 |
rs_753266636 |
3 SubmittersRCV000985485RCV003158266RCV002549648 |
|
NM_000059.4(BRCA2):c.3166C>G (p.Gln1056Glu)
|
SNV Germline |
Chr13:32337521 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775796 |
rs_79728106 |
4 SubmittersRCV000985494RCV001858622RCV002320198 |
|
NM_000059.4(BRCA2):c.3418A>G (p.Ser1140Gly)
|
SNV Germline |
Chr13:32337773 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776508 |
rs_1593899487 |
3 SubmittersRCV000985500RCV003158267 |
|
NM_000059.4(BRCA2):c.3650G>A (p.Arg1217Lys)
|
SNV Germline |
Chr13:32338005 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387777952 |
rs_1306577496 |
4 SubmittersRCV000985509RCV001020805RCV001359613 |
|
NM_000059.4(BRCA2):c.3665C>G (p.Ala1222Gly)
|
SNV Germline |
Chr13:32338020 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940714 |
rs_760071561 |
2 SubmittersRCV000985510RCV003158268 |
|
NM_000059.4(BRCA2):c.4225T>G (p.Leu1409Val)
|
SNV Germline |
Chr13:32338580 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780328 |
rs_1593901749 |
3 SubmittersRCV000985518RCV002549649RCV003158269 |
|
NM_000059.4(BRCA2):c.4444G>T (p.Glu1482Ter)
|
SNV Germline |
Chr13:32338799 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387781349 |
rs_1002900129 |
2 SubmittersRCV000985525RCV003169524 |
|
NM_000059.4(BRCA2):c.5207A>G (p.Gln1736Arg)
|
SNV Germline |
Chr13:32339562 |
Conflicting classifications of pathogenicity |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784607 |
rs_1183489363 |
7 SubmittersRCV000985539RCV000989038RCV001041172RCV001180721 |
|
NM_000059.4(BRCA2):c.5491A>G (p.Ile1831Val)
|
SNV Germline |
Chr13:32339846 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785762 |
rs_1593905631 |
4 SubmittersRCV000985547RCV001869329RCV003158270 |
|
NM_000059.4(BRCA2):c.5585T>G (p.Val1862Gly)
|
SNV Germline |
Chr13:32339940 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786029 |
rs_1593905868 |
4 SubmittersRCV000985548RCV001024299RCV001858624 |
|
NM_000059.4(BRCA2):c.5807T>C (p.Met1936Thr)
|
SNV Germline |
Chr13:32340162 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387787238 |
rs_1376128381 |
7 SubmittersRCV000985550RCV001024558RCV001243303RCV004004409 |
|
NM_000059.4(BRCA2):c.6190A>G (p.Lys2064Glu)
|
SNV Germline |
Chr13:32340545 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788427 |
rs_1593907793 |
4 SubmittersRCV000985560RCV001180446 |
|
NM_000059.4(BRCA2):c.6202A>G (p.Ile2068Val)
|
SNV Germline |
Chr13:32340557 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940933 |
rs_755523944 |
3 SubmittersRCV000985561RCV002550591RCV003158271 |
|
NM_000059.4(BRCA2):c.6452T>C (p.Val2151Ala)
|
SNV Germline |
Chr13:32340807 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789334 |
rs_1064793743 |
3 SubmittersRCV000985567RCV001192025 |
|
NM_000059.4(BRCA2):c.8687G>T (p.Arg2896Leu)
|
SNV Germline |
Chr13:32376724 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754800 |
rs_80359128 |
2 SubmittersRCV000985607RCV004601321 |
|
NM_000059.4(BRCA2):c.9754T>A (p.Ser3252Thr)
|
SNV Germline |
Chr13:32398267 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA387765710 |
rs_1060502467 |
4 SubmittersRCV000985631RCV002382219RCV002550592RCV005359718 |
|
NM_000059.4(BRCA2):c.9900A>C (p.Pro3300=)
|
SNV Germline |
Chr13:32398413 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483439978 |
rs_1593201999 |
2 SubmittersRCV000985633RCV001019880 |
|
NM_000059.4(BRCA2):c.4129A>G (p.Asn1377Asp)
|
SNV Germline |
Chr13:32338484 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779364 |
rs_1593901487 |
3 SubmittersRCV000989025RCV001208386RCV003158274 |
|
NM_000059.4(BRCA2):c.4265A>T (p.Glu1422Val)
|
SNV Germline |
Chr13:32338620 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780523 |
rs_1593901855 |
2 SubmittersRCV000989027RCV003158275 |
|
NM_000059.4(BRCA2):c.4973A>G (p.Gln1658Arg)
|
SNV Germline |
Chr13:32339328 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783837 |
rs_1593903991 |
3 SubmittersRCV000989033RCV001858699RCV003158276 |
|
NM_000059.4(BRCA2):c.5206C>G (p.Gln1736Glu)
|
SNV Germline |
Chr13:32339561 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784605 |
rs_886037802 |
4 SubmittersRCV000989037RCV001237147RCV002337047 |
|
NM_000059.4(BRCA2):c.5791C>A (p.Gln1931Lys)
|
SNV Germline |
Chr13:32340146 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787174 |
rs_80358807 |
2 SubmittersRCV000989043RCV003158277 |
|
NM_000059.4(BRCA2):c.5912C>G (p.Ser1971Cys)
|
SNV Germline |
Chr13:32340267 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787517 |
rs_1593906913 |
3 SubmittersRCV000989046RCV003158278 |
|
NM_000059.4(BRCA2):c.6242A>C (p.Glu2081Ala)
|
SNV Germline |
Chr13:32340597 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387788911 |
rs_1593907983 |
6 SubmittersRCV000989048RCV001187543RCV001255557RCV001284434 |
|
NM_000059.4(BRCA2):c.6272G>A (p.Ser2091Asn)
|
SNV Germline |
Chr13:32340627 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788973 |
rs_1060502389 |
3 SubmittersRCV000989049RCV001858700RCV003158279 |
|
NM_000059.4(BRCA2):c.6322C>A (p.Arg2108Ser)
|
SNV Germline |
Chr13:32340677 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789066 |
rs_55794205 |
2 SubmittersRCV000989051RCV003158280 |
|
NM_000059.4(BRCA2):c.7977-7C>T
|
SNV Germline |
Chr13:32363172 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA915946885 |
rs_397507948 |
2 SubmittersRCV000989068RCV002067582 |
|
NM_000059.4(BRCA2):c.8953+2T>C
|
SNV Unknown |
Chr13:32379517 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387757350 |
rs_886040947 |
1 SubmittersRCV000989079 |
|
NM_000059.4(BRCA2):c.622G>C (p.Val208Leu)
|
SNV Germline |
Chr13:32326604 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387758372 |
rs_1593887544 |
4 SubmittersRCV000995054RCV001295693RCV003607364RCV004950116 |
|
NM_000059.4(BRCA2):c.8416T>C (p.Ser2806Pro)
|
SNV Germline |
Chr13:32370486 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752518 |
rs_1280487930 |
3 SubmittersRCV000995060RCV002445148RCV003106088 |
|
NM_000059.4(BRCA2):c.2674T>C (p.Phe892Leu)
|
SNV Germline |
Chr13:32337029 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773394 |
rs_1593897508 |
4 SubmittersRCV001002149RCV003158285RCV001860510 |
|
NM_000059.4(BRCA2):c.7435+23A>G
|
SNV Germline |
Chr13:32355311 |
Conflicting classifications of pathogenicity |
not specified BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA6941094 |
rs_761412178 |
3 SubmittersRCV001001034RCV004545008 |
|
NM_000059.4(BRCA2):c.337A>T (p.Arg113Ter)
|
SNV Germline |
Chr13:32325096 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387756556 |
rs_1593885872 |
1 SubmittersRCV001020140 |
|
NM_000059.4(BRCA2):c.790C>T (p.His264Tyr)
|
SNV Germline |
Chr13:32331027 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387760257 |
rs_1450949342 |
2 SubmittersRCV001026943RCV004004678 |
|
NM_000059.4(BRCA2):c.910G>A (p.Glu304Lys)
|
SNV Germline |
Chr13:32332388 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760694 |
rs_1593891461 |
2 SubmittersRCV001018875 |
|
NM_000059.4(BRCA2):c.910G>T (p.Glu304Ter)
|
SNV Germline |
Chr13:32332388 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387760696 |
rs_1593891461 |
1 SubmittersRCV001018876 |
|
NM_000059.4(BRCA2):c.917A>G (p.Asp306Gly)
|
SNV Germline |
Chr13:32332395 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760718 |
rs_1593891489 |
2 SubmittersRCV001018959 |
|
NM_000059.4(BRCA2):c.940A>T (p.Lys314Ter)
|
SNV Germline |
Chr13:32332418 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387760807 |
rs_1593891539 |
1 SubmittersRCV001019283 |
|
NM_000059.4(BRCA2):c.942A>G (p.Lys314=)
|
SNV Germline |
Chr13:32332420 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Fanconi anemia complementation group D1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483436358 |
rs_1384322636 |
4 SubmittersRCV001109311RCV001114950RCV001019336RCV002549502 |
|
NM_000059.4(BRCA2):c.954A>C (p.Lys318Asn)
|
SNV Germline |
Chr13:32332432 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760861 |
rs_1593891571 |
3 SubmittersRCV001019472RCV001317883 |
|
NM_000059.4(BRCA2):c.1000C>A (p.His334Asn)
|
SNV Germline |
Chr13:32332478 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761044 |
rs_1593891725 |
3 SubmittersRCV001860609RCV001009656 |
|
NM_000059.4(BRCA2):c.1031C>G (p.Ser344Cys)
|
SNV Germline |
Chr13:32332509 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387761170 |
rs_1593891776 |
3 SubmittersRCV001009729RCV004004477 |
|
NM_000059.4(BRCA2):c.1097T>A (p.Leu366Ter)
|
SNV Germline |
Chr13:32332575 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387761533 |
rs_886040345 |
1 SubmittersRCV001017280 |
|
NM_000059.4(BRCA2):c.1114A>G (p.Asn372Asp)
|
SNV Germline |
Chr13:32332592 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761621 |
rs_144848 |
3 SubmittersRCV001017368RCV001319297 |
|
NM_000059.4(BRCA2):c.1124C>G (p.Pro375Arg)
|
SNV Germline |
Chr13:32332602 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761686 |
rs_80358409 |
2 SubmittersRCV001009928 |
|
NM_000059.4(BRCA2):c.1133G>A (p.Ser378Asn)
|
SNV Germline |
Chr13:32332611 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions |
Criteria Provided Conflicting Classifications |
CA387761745 |
rs_1593892009 |
6 SubmittersRCV001207859RCV001009962RCV003321771RCV004004480RCV005012441 |
|
NM_000059.4(BRCA2):c.1154A>G (p.Lys385Arg)
|
SNV Germline |
Chr13:32332632 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761892 |
rs_1593892070 |
2 SubmittersRCV001010011 |
|
NM_000059.4(BRCA2):c.1156G>A (p.Glu386Lys)
|
SNV Germline |
Chr13:32332634 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761896 |
rs_1593892076 |
2 SubmittersRCV001010034 |
|
NM_000059.4(BRCA2):c.1185G>T (p.Trp395Cys)
|
SNV Germline |
Chr13:32332663 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762001 |
rs_886039315 |
3 SubmittersRCV001010213RCV001341557 |
|
NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg)
|
SNV Germline |
Chr13:32332698 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762123 |
rs_1593892264 |
6 SubmittersRCV001010386RCV002466600RCV004789317RCV001860635 |
|
NM_000059.4(BRCA2):c.1221G>C (p.Gln407His)
|
SNV Germline |
Chr13:32332699 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762126 |
rs_1555281779 |
2 SubmittersRCV001010392 |
|
NM_000059.4(BRCA2):c.1224G>C (p.Met408Ile)
|
SNV Germline |
Chr13:32332702 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762141 |
rs_1593892275 |
2 SubmittersRCV001010419 |
|
NM_000059.4(BRCA2):c.1234C>A (p.Pro412Thr)
|
SNV Germline |
Chr13:32332712 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762200 |
rs_1555281787 |
4 SubmittersRCV001010471RCV004004486RCV003645122 |
|
NM_000059.4(BRCA2):c.1298A>G (p.Asn433Ser)
|
SNV Germline |
Chr13:32332776 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762520 |
rs_1593892451 |
3 SubmittersRCV001010821RCV001373829 |
|
NM_000059.4(BRCA2):c.1308G>C (p.Lys436Asn)
|
SNV Germline |
Chr13:32332786 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762592 |
rs_1593892488 |
2 SubmittersRCV001010909 |
|
NM_000059.4(BRCA2):c.1328A>G (p.Glu443Gly)
|
SNV Germline |
Chr13:32332806 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762668 |
rs_1593892542 |
3 SubmittersRCV001011048RCV002551737 |
|
NM_000059.4(BRCA2):c.1405G>A (p.Asp469Asn)
|
SNV Germline |
Chr13:32332883 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387764166 |
rs_398122727 |
4 SubmittersRCV001071150RCV001011409RCV003327476 |
|
NM_000059.4(BRCA2):c.1407T>A (p.Asp469Glu)
|
SNV Germline |
Chr13:32332885 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764175 |
rs_1593892789 |
2 SubmittersRCV001011418 |
|
NM_000059.4(BRCA2):c.1435G>A (p.Asp479Asn)
|
SNV Germline |
Chr13:32332913 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764281 |
rs_1593892861 |
3 SubmittersRCV001011565RCV001210067 |
|
NM_000059.4(BRCA2):c.1454A>G (p.Lys485Arg)
|
SNV Germline |
Chr13:32332932 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764345 |
rs_1593892915 |
5 SubmittersRCV003117690RCV003769446RCV001011663 |
|
NM_000059.4(BRCA2):c.1456C>G (p.Gln486Glu)
|
SNV Germline |
Chr13:32332934 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764354 |
rs_80358434 |
2 SubmittersRCV001011670 |
|
NM_000059.4(BRCA2):c.1503C>G (p.Ile501Met)
|
SNV Germline |
Chr13:32332981 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764495 |
rs_1566223725 |
2 SubmittersRCV001011929 |
|
NM_000059.4(BRCA2):c.1505A>G (p.Lys502Arg)
|
SNV Germline |
Chr13:32332983 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247497645 |
rs_990094915 |
3 SubmittersRCV001011941RCV001037998 |
|
NM_000059.4(BRCA2):c.1522A>G (p.Ile508Val)
|
SNV Germline |
Chr13:32333000 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764561 |
rs_1593893116 |
3 SubmittersRCV001011999RCV002550772 |
|
NM_000059.4(BRCA2):c.1524A>G (p.Ile508Met)
|
SNV Germline |
Chr13:32333002 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764569 |
rs_1593893119 |
3 SubmittersRCV001012007RCV001233557 |
|
NM_000059.4(BRCA2):c.1579C>T (p.Pro527Ser)
|
SNV Germline |
Chr13:32333057 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940528 |
rs_758025325 |
4 SubmittersRCV001012273RCV001345073 |
|
NM_000059.4(BRCA2):c.1604C>T (p.Ala535Val)
|
SNV Germline |
Chr13:32333082 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764849 |
rs_1593893344 |
3 SubmittersRCV001012345RCV002550776 |
|
NM_000059.4(BRCA2):c.1764T>G (p.Asn588Lys)
|
SNV Germline |
Chr13:32333242 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387765599 |
rs_1235065739 |
3 SubmittersRCV001013026RCV001860732 |
|
NM_000059.4(BRCA2):c.1771A>C (p.Ile591Leu)
|
SNV Germline |
Chr13:32333249 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387765633 |
rs_786203548 |
4 SubmittersRCV001013056RCV003478618 |
|
NM_000059.4(BRCA2):c.1775A>T (p.Tyr592Phe)
|
SNV Germline |
Chr13:32333253 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387765665 |
rs_772156559 |
3 SubmittersRCV001013100RCV001067410 |
|
NM_000059.4(BRCA2):c.1783C>A (p.His595Asn)
|
SNV Germline |
Chr13:32333261 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387765705 |
rs_587781906 |
4 SubmittersRCV001013139RCV001873242RCV004004523 |
|
NM_000059.4(BRCA2):c.1844A>C (p.Asn615Thr)
|
SNV Germline |
Chr13:32333322 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387766311 |
rs_1593894051 |
3 SubmittersRCV001013373RCV005093096 |
|
NM_000059.4(BRCA2):c.1847G>A (p.Cys616Tyr)
|
SNV Germline |
Chr13:32333325 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387766347 |
rs_1230674723 |
3 SubmittersRCV001013399RCV001056360 |
|
NM_000059.4(BRCA2):c.1847G>C (p.Cys616Ser)
|
SNV Germline |
Chr13:32333325 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387766350 |
rs_1230674723 |
4 SubmittersRCV001013400RCV001860738 |
|
NM_000059.4(BRCA2):c.1889C>A (p.Thr630Lys)
|
SNV Germline |
Chr13:32333367 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387766740 |
rs_80358479 |
4 SubmittersRCV001013567RCV003320224RCV005093098 |
|
NM_000059.4(BRCA2):c.1905T>A (p.Asp635Glu)
|
SNV Germline |
Chr13:32333383 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387767363 |
rs_1555282154 |
4 SubmittersRCV001013576RCV001326443 |
|
NM_000059.4(BRCA2):c.1939T>A (p.Cys647Ser)
|
SNV Germline |
Chr13:32336294 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768350 |
rs_1555282367 |
3 SubmittersRCV001013753RCV003645127 |
|
NM_000059.4(BRCA2):c.1952A>G (p.Asp651Gly)
|
SNV Germline |
Chr13:32336307 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940567 |
rs_747387987 |
3 SubmittersRCV001013819RCV001873252 |
|
NM_000059.4(BRCA2):c.1964C>A (p.Pro655Gln)
|
SNV Germline |
Chr13:32336319 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768508 |
rs_28897712 |
3 SubmittersRCV001013884RCV001230113 |
|
NM_000059.4(BRCA2):c.1991G>A (p.Gly664Glu)
|
SNV Germline |
Chr13:32336346 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387768652 |
rs_1555282391 |
5 SubmittersRCV001013974RCV001320186RCV001766833RCV003483753 |
|
NM_000059.4(BRCA2):c.2021A>G (p.Glu674Gly)
|
SNV Germline |
Chr13:32336376 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247500461 |
rs_56311811 |
3 SubmittersRCV001014119RCV001217478 |
|
NM_000059.4(BRCA2):c.2060A>G (p.Asp687Gly)
|
SNV Germline |
Chr13:32336415 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387769015 |
rs_1593896033 |
3 SubmittersRCV001014275RCV003530125 |
|
NM_000059.4(BRCA2):c.2087A>G (p.Glu696Gly)
|
SNV Germline |
Chr13:32336442 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387769161 |
rs_1593896068 |
3 SubmittersRCV001014383RCV003645128 |
|
NM_000059.4(BRCA2):c.2123C>A (p.Ser708Tyr)
|
SNV Germline |
Chr13:32336478 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770042 |
rs_1593896146 |
4 SubmittersRCV001014526RCV002550795 |
|
NM_000059.4(BRCA2):c.2150G>A (p.Cys717Tyr)
|
SNV Germline |
Chr13:32336505 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770184 |
rs_1184992634 |
4 SubmittersRCV001014603RCV005056758 |
|
NM_000059.4(BRCA2):c.2159A>T (p.Asp720Val)
|
SNV Germline |
Chr13:32336514 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770241 |
rs_1593896239 |
3 SubmittersRCV001014623RCV001321973 |
|
NM_000059.4(BRCA2):c.2249A>C (p.Asp750Ala)
|
SNV Germline |
Chr13:32336604 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770888 |
rs_1555282574 |
2 SubmittersRCV001014918 |
|
NM_000059.4(BRCA2):c.2252C>G (p.Thr751Ser)
|
SNV Germline |
Chr13:32336607 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770909 |
rs_398122743 |
2 SubmittersRCV001014942 |
|
NM_000059.4(BRCA2):c.2273G>A (p.Ser758Asn)
|
SNV Germline |
Chr13:32336628 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387771075 |
rs_1593896511 |
5 SubmittersRCV001014863RCV001233111RCV003483754 |
|
NM_000059.4(BRCA2):c.2306T>G (p.Leu769Arg)
|
SNV Germline |
Chr13:32336661 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387771356 |
rs_1555282603 |
3 SubmittersRCV001015147RCV002304224 |
|
NM_000059.4(BRCA2):c.2308A>G (p.Ile770Val)
|
SNV Germline |
Chr13:32336663 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387771361 |
rs_1593896607 |
4 SubmittersRCV001015152RCV001217998RCV001201235 |
|
NM_000059.4(BRCA2):c.2354T>C (p.Ile785Thr)
|
SNV Germline |
Chr13:32336709 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940599 |
rs_771599029 |
5 SubmittersRCV001015126RCV003234790 |
|
NM_000059.4(BRCA2):c.2374T>C (p.Tyr792His)
|
SNV Germline |
Chr13:32336729 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387771794 |
rs_1484798037 |
3 SubmittersRCV001015342RCV004004543 |
|
NM_000059.4(BRCA2):c.2401A>C (p.Asn801His)
|
SNV Germline |
Chr13:32336756 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771967 |
rs_765279896 |
2 SubmittersRCV001015417 |
|
NM_000059.4(BRCA2):c.2417A>T (p.Asp806Val)
|
SNV Germline |
Chr13:32336772 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772075 |
rs_80358506 |
2 SubmittersRCV001015277 |
|
NM_000059.4(BRCA2):c.2423A>C (p.Glu808Ala)
|
SNV Germline |
Chr13:32336778 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772111 |
rs_1593896901 |
2 SubmittersRCV001015472 |
|
NM_000059.4(BRCA2):c.2458G>C (p.Asp820His)
|
SNV Germline |
Chr13:32336813 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772314 |
rs_1593896974 |
3 SubmittersRCV001015603RCV001860799 |
|
NM_000059.4(BRCA2):c.2477A>G (p.Glu826Gly)
|
SNV Germline |
Chr13:32336832 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772376 |
rs_1214763097 |
3 SubmittersRCV001015654RCV003645132 |
|
NM_000059.4(BRCA2):c.2594A>G (p.Glu865Gly)
|
SNV Germline |
Chr13:32336949 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772616 |
rs_1593897302 |
4 SubmittersRCV001015891RCV004004553RCV001234291 |
|
NM_000059.4(BRCA2):c.2620A>G (p.Thr874Ala)
|
SNV Germline |
Chr13:32336975 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA387773193 |
rs_1593897363 |
3 SubmittersRCV001016126RCV005004484 |
|
NM_000059.4(BRCA2):c.2663A>G (p.Asn888Ser)
|
SNV Germline |
Chr13:32337018 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773353 |
rs_1593897475 |
3 SubmittersRCV001016150 |
|
NM_000059.4(BRCA2):c.2742G>C (p.Leu914Phe)
|
SNV Germline |
Chr13:32337097 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940627 |
rs_759767392 |
5 SubmittersRCV001016466RCV001284080RCV001860830 |
|
NM_000059.4(BRCA2):c.2795A>G (p.Asp932Gly)
|
SNV Germline |
Chr13:32337150 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773734 |
rs_879255447 |
2 SubmittersRCV001016620 |
|
NM_000059.4(BRCA2):c.2805T>A (p.Asp935Glu)
|
SNV Germline |
Chr13:32337160 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773753 |
rs_749138071 |
2 SubmittersRCV001016634 |
|
NM_000059.4(BRCA2):c.2880G>C (p.Lys960Asn)
|
SNV Germline |
Chr13:32337235 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247503235 |
rs_55891436 |
3 SubmittersRCV001016850RCV001308894 |
|
NM_000059.4(BRCA2):c.2923A>G (p.Ile975Val)
|
SNV Germline |
Chr13:32337278 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774213 |
rs_757213764 |
4 SubmittersRCV001017509RCV002479215RCV005208691 |
|
NM_000059.4(BRCA2):c.2975A>T (p.Lys992Ile)
|
SNV Germline |
Chr13:32337330 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774548 |
rs_1370517493 |
3 SubmittersRCV001017734RCV001860873 |
|
NM_000059.4(BRCA2):c.3022A>G (p.Ser1008Gly)
|
SNV Germline |
Chr13:32337377 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774854 |
rs_1386536852 |
3 SubmittersRCV001018122RCV001860894 |
|
NM_000059.4(BRCA2):c.3040A>G (p.Asn1014Asp)
|
SNV Germline |
Chr13:32337395 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387774989 |
rs_1390034820 |
5 SubmittersRCV001018252RCV002298831RCV004803358 |
|
NM_000059.4(BRCA2):c.3042T>G (p.Asn1014Lys)
|
SNV Germline |
Chr13:32337397 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775001 |
rs_1593898407 |
4 SubmittersRCV001018287RCV001860901 |
|
NM_000059.4(BRCA2):c.3070A>C (p.Ile1024Leu)
|
SNV Germline |
Chr13:32337425 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775163 |
rs_876659687 |
2 SubmittersRCV001018445 |
|
NM_000059.4(BRCA2):c.3180C>A (p.Ser1060Arg)
|
SNV Germline |
Chr13:32337535 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775825 |
rs_786203536 |
2 SubmittersRCV001019021 |
|
NM_000059.4(BRCA2):c.3211C>G (p.His1071Asp)
|
SNV Germline |
Chr13:32337566 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387775881 |
rs_80358564 |
4 SubmittersRCV001019269RCV005093182RCV005418954 |
|
NM_000059.4(BRCA2):c.3235T>G (p.Ser1079Ala)
|
SNV Germline |
Chr13:32337590 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775932 |
rs_1593898984 |
3 SubmittersRCV001019345RCV002551817 |
|
NM_000059.4(BRCA2):c.3332T>C (p.Ile1111Thr)
|
SNV Germline |
Chr13:32337687 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776279 |
rs_1593899223 |
2 SubmittersRCV001020011 |
|
NM_000059.4(BRCA2):c.3337G>A (p.Glu1113Lys)
|
SNV Germline |
Chr13:32337692 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387776295 |
rs_1482364471 |
4 SubmittersRCV001020025RCV005056776RCV005359776 |
|
NM_000059.4(BRCA2):c.3338A>T (p.Glu1113Val)
|
SNV Germline |
Chr13:32337693 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776302 |
rs_1593899249 |
2 SubmittersRCV001020027 |
|
NM_000059.4(BRCA2):c.3350T>C (p.Ile1117Thr)
|
SNV Germline |
Chr13:32337705 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940691 |
rs_558973276 |
3 SubmittersRCV001020061RCV001216809 |
|
NM_000059.4(BRCA2):c.3362C>T (p.Ser1121Leu)
|
SNV Germline |
Chr13:32337717 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776385 |
rs_80358579 |
2 SubmittersRCV001020092 |
|
NM_000059.4(BRCA2):c.3375T>A (p.Phe1125Leu)
|
SNV Germline |
Chr13:32337730 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776412 |
rs_1593899361 |
3 SubmittersRCV001020130RCV001860973 |
|
NM_000059.4(BRCA2):c.3377A>C (p.Glu1126Ala)
|
SNV Germline |
Chr13:32337732 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776419 |
rs_1593899368 |
2 SubmittersRCV001020131 |
|
NM_000059.4(BRCA2):c.3433C>T (p.Pro1145Ser)
|
SNV Germline |
Chr13:32337788 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776580 |
rs_1555283232 |
2 SubmittersRCV001020298 |
|
NM_000059.4(BRCA2):c.3500T>C (p.Ile1167Thr)
|
SNV Germline |
Chr13:32337855 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776940 |
rs_1593899750 |
3 SubmittersRCV001020469RCV001042565 |
|
NM_000059.4(BRCA2):c.3501A>G (p.Ile1167Met)
|
SNV Germline |
Chr13:32337856 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776945 |
rs_1593899752 |
3 SubmittersRCV001020470RCV003645141 |
|
NM_000059.4(BRCA2):c.3550G>T (p.Gly1184Cys)
|
SNV Germline |
Chr13:32337905 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777221 |
rs_1593899860 |
2 SubmittersRCV001020587 |
|
NM_000059.4(BRCA2):c.3674C>A (p.Thr1225Lys)
|
SNV Germline |
Chr13:32338029 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777998 |
rs_1490822985 |
2 SubmittersRCV001020856 |
|
NM_000059.4(BRCA2):c.3680T>C (p.Leu1227Pro)
|
SNV Germline |
Chr13:32338035 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778010 |
rs_1593900195 |
2 SubmittersRCV001020867 |
|
NM_000059.4(BRCA2):c.3719T>C (p.Leu1240Pro)
|
SNV Germline |
Chr13:32338074 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387778083 |
rs_1593900306 |
5 SubmittersRCV001020966RCV003530130RCV001800932 |
|
NM_000059.4(BRCA2):c.3764T>G (p.Val1255Gly)
|
SNV Germline |
Chr13:32338119 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778229 |
rs_1593900450 |
3 SubmittersRCV001021084RCV001213355 |
|
NM_000059.4(BRCA2):c.3785C>A (p.Ser1262Ter)
|
SNV Germline |
Chr13:32338140 |
Pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387778343 |
rs_80358620 |
4 SubmittersRCV001021129RCV001355500RCV002551835 |
|
NM_000059.4(BRCA2):c.3794G>A (p.Cys1265Tyr)
|
SNV Germline |
Chr13:32338149 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778387 |
rs_397507315 |
3 SubmittersRCV001021158RCV001246894 |
|
NM_000059.4(BRCA2):c.3794G>C (p.Cys1265Ser)
|
SNV Germline |
Chr13:32338149 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778388 |
rs_397507315 |
2 SubmittersRCV001021159 |
|
NM_000059.4(BRCA2):c.3920A>G (p.Glu1307Gly)
|
SNV Germline |
Chr13:32338275 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778824 |
rs_1593900916 |
2 SubmittersRCV001021442 |
|
NM_000059.4(BRCA2):c.3947A>G (p.Asn1316Ser)
|
SNV Germline |
Chr13:32338302 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778883 |
rs_1593900994 |
3 SubmittersRCV001021493RCV005093212 |
|
NM_000059.4(BRCA2):c.3974C>T (p.Thr1325Ile)
|
SNV Germline |
Chr13:32338329 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778943 |
rs_1593901084 |
3 SubmittersRCV001021565RCV003645143 |
|
NM_000059.4(BRCA2):c.3986G>C (p.Arg1329Thr)
|
SNV Germline |
Chr13:32338341 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778964 |
rs_1566229484 |
2 SubmittersRCV001021585 |
|
NM_000059.4(BRCA2):c.4169T>G (p.Leu1390Trp)
|
SNV Germline |
Chr13:32338524 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387780076 |
rs_1593901612 |
4 SubmittersRCV001021979RCV002549546 |
|
NM_000059.4(BRCA2):c.4171G>A (p.Glu1391Lys)
|
SNV Germline |
Chr13:32338526 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387780084 |
rs_1593901620 |
4 SubmittersRCV001021986RCV001862199RCV003478646 |
|
NM_000059.4(BRCA2):c.4229C>A (p.Thr1410Asn)
|
SNV Germline |
Chr13:32338584 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387780344 |
rs_1593901756 |
4 SubmittersRCV001022091RCV001309899RCV004004623 |
|
NM_000059.4(BRCA2):c.4315G>T (p.Ala1439Ser)
|
SNV Germline |
Chr13:32338670 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387780802 |
rs_80358666 |
3 SubmittersRCV001022280RCV003645144 |
|
NM_000059.4(BRCA2):c.4382C>T (p.Ser1461Phe)
|
SNV Germline |
Chr13:32338737 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781059 |
rs_1593902185 |
4 SubmittersRCV001022393RCV001873355 |
|
NM_000059.4(BRCA2):c.4478A>C (p.Glu1493Ala)
|
SNV Germline |
Chr13:32338833 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387781491 |
rs_80358679 |
3 SubmittersRCV001022539RCV001819734 |
|
NM_000059.4(BRCA2):c.4480A>G (p.Ser1494Gly)
|
SNV Germline |
Chr13:32338835 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387781498 |
rs_1593902515 |
5 SubmittersRCV001022552RCV001873361RCV002281148 |
|
NM_000059.4(BRCA2):c.4481G>C (p.Ser1494Thr)
|
SNV Germline |
Chr13:32338836 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781505 |
rs_1593902517 |
2 SubmittersRCV001022555 |
|
NM_000059.4(BRCA2):c.4498G>A (p.Gly1500Arg)
|
SNV Germline |
Chr13:32338853 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940785 |
rs_765328255 |
3 SubmittersRCV001022577RCV001300026 |
|
NM_000059.4(BRCA2):c.4502A>G (p.Asn1501Ser)
|
SNV Germline |
Chr13:32338857 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247507829 |
rs_545444016 |
4 SubmittersRCV001022599RCV001069791 |
|
NM_000059.4(BRCA2):c.4520A>G (p.Gln1507Arg)
|
SNV Germline |
Chr13:32338875 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781658 |
rs_1473942366 |
4 SubmittersRCV001022631RCV002479218RCV002550002 |
|
NM_000059.4(BRCA2):c.4531G>T (p.Glu1511Ter)
|
SNV Germline |
Chr13:32338886 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387781702 |
rs_376338226 |
3 SubmittersRCV001022652RCV003530131RCV003318656 |
|
NM_000059.4(BRCA2):c.4532A>G (p.Glu1511Gly)
|
SNV Germline |
Chr13:32338887 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781708 |
rs_1593902650 |
4 SubmittersRCV001022653RCV004803376RCV003530132 |
|
NM_000059.4(BRCA2):c.4534C>A (p.Arg1512Ser)
|
SNV Germline |
Chr13:32338889 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781714 |
rs_80358684 |
3 SubmittersRCV001022658RCV002551858 |
|
NM_000059.4(BRCA2):c.4545G>C (p.Lys1515Asn)
|
SNV Germline |
Chr13:32338900 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781763 |
rs_1555283835 |
2 SubmittersRCV001022678 |
|
NM_000059.4(BRCA2):c.4562T>C (p.Leu1521Pro)
|
SNV Germline |
Chr13:32338917 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387781836 |
rs_1200198184 |
4 SubmittersRCV001022704RCV004998562RCV004004630 |
|
NM_000059.4(BRCA2):c.4565T>C (p.Leu1522Ser)
|
SNV Germline |
Chr13:32338920 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781848 |
rs_1593902785 |
2 SubmittersRCV001022707 |
|
NM_000059.4(BRCA2):c.4597A>C (p.Lys1533Gln)
|
SNV Germline |
Chr13:32338952 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781957 |
rs_1060502418 |
2 SubmittersRCV001022757 |
|
NM_000059.4(BRCA2):c.4663G>A (p.Glu1555Lys)
|
SNV Germline |
Chr13:32339018 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782753 |
rs_1593903083 |
2 SubmittersRCV001022868 |
|
NM_000059.4(BRCA2):c.4726C>G (p.Leu1576Val)
|
SNV Germline |
Chr13:32339081 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940808 |
rs_758051329 |
4 SubmittersRCV001022957RCV002298841RCV004777925 |
|
NM_000059.4(BRCA2):c.4756A>G (p.Thr1586Ala)
|
SNV Germline |
Chr13:32339111 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783107 |
rs_1593903364 |
2 SubmittersRCV001022995 |
|
NM_000059.4(BRCA2):c.4772G>A (p.Cys1591Tyr)
|
SNV Germline |
Chr13:32339127 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783169 |
rs_1555283933 |
4 SubmittersRCV001023021RCV001038885 |
|
NM_000059.4(BRCA2):c.4790C>T (p.Ser1597Phe)
|
SNV Germline |
Chr13:32339145 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387783237 |
rs_876660146 |
5 SubmittersRCV001023050RCV001862247RCV004803377 |
|
NM_000059.4(BRCA2):c.4825A>T (p.Thr1609Ser)
|
SNV Germline |
Chr13:32339180 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783306 |
rs_876659201 |
2 SubmittersRCV001023113 |
|
NM_000059.4(BRCA2):c.4858T>G (p.Leu1620Val)
|
SNV Germline |
Chr13:32339213 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783416 |
rs_528771743 |
4 SubmittersRCV001023156RCV001862252 |
|
NM_000059.4(BRCA2):c.4895G>C (p.Ser1632Thr)
|
SNV Germline |
Chr13:32339250 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783536 |
rs_1593903713 |
4 SubmittersRCV001023211RCV001862256 |
|
NM_000059.4(BRCA2):c.4900T>A (p.Phe1634Ile)
|
SNV Germline |
Chr13:32339255 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783551 |
rs_1555283982 |
4 SubmittersRCV001023238RCV001356062RCV001327896 |
|
NM_000059.4(BRCA2):c.4915G>T (p.Val1639Leu)
|
SNV Germline |
Chr13:32339270 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783603 |
rs_80358716 |
3 SubmittersRCV001023257RCV001308598 |
|
NM_000059.4(BRCA2):c.4927G>T (p.Val1643Leu)
|
SNV Germline |
Chr13:32339282 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387783649 |
rs_879254182 |
5 SubmittersRCV001023273RCV001304818RCV005408647 |
|
NM_000059.4(BRCA2):c.4939A>G (p.Thr1647Ala)
|
SNV Germline |
Chr13:32339294 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783705 |
rs_1593903882 |
2 SubmittersRCV001023298 |
|
NM_000059.4(BRCA2):c.4963T>C (p.Tyr1655His)
|
SNV Germline |
Chr13:32339318 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783795 |
rs_1593903956 |
2 SubmittersRCV001023333 |
|
NM_000059.4(BRCA2):c.5027G>T (p.Ser1676Ile)
|
SNV Germline |
Chr13:32339382 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783975 |
rs_876660686 |
3 SubmittersRCV001301918RCV001023441 |
|
NM_000059.4(BRCA2):c.5042T>G (p.Val1681Gly)
|
SNV Germline |
Chr13:32339397 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784005 |
rs_1593904227 |
3 SubmittersRCV001023463RCV003530134 |
|
NM_000059.4(BRCA2):c.5049G>T (p.Gln1683His)
|
SNV Germline |
Chr13:32339404 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387784018 |
rs_773973434 |
3 SubmittersRCV001023470RCV003478651 |
|
NM_000059.4(BRCA2):c.5083G>A (p.Glu1695Lys)
|
SNV Germline |
Chr13:32339438 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247508982 |
rs_938190132 |
3 SubmittersRCV001023508RCV003530135 |
|
NM_000059.4(BRCA2):c.5092T>C (p.Phe1698Leu)
|
SNV Germline |
Chr13:32339447 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784103 |
rs_1593904362 |
3 SubmittersRCV001023525RCV005093235 |
|
NM_000059.4(BRCA2):c.5210A>G (p.Asp1737Gly)
|
SNV Germline |
Chr13:32339565 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784615 |
rs_587778120 |
3 SubmittersRCV001023736RCV001067560 |
|
NM_000059.4(BRCA2):c.5281G>C (p.Gly1761Arg)
|
SNV Germline |
Chr13:32339636 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784765 |
rs_886038122 |
2 SubmittersRCV001023857 |
|
NM_000059.4(BRCA2):c.5286T>G (p.Tyr1762Ter)
|
SNV Germline |
Chr13:32339641 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387784772 |
rs_80358754 |
4 SubmittersRCV001023865RCV001063211RCV001355845 |
|
NM_000059.4(BRCA2):c.5371A>G (p.Ile1791Val)
|
SNV Germline |
Chr13:32339726 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785145 |
rs_1214903860 |
3 SubmittersRCV001023990RCV003645148 |
|
NM_000059.4(BRCA2):c.5377A>C (p.Asn1793His)
|
SNV Germline |
Chr13:32339732 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387785178 |
rs_1593905298 |
5 SubmittersRCV001023994RCV001222464RCV004004644 |
|
NM_000059.4(BRCA2):c.5450C>G (p.Ser1817Cys)
|
SNV Germline |
Chr13:32339805 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940871 |
rs_759741090 |
3 SubmittersRCV001024130RCV001339958 |
|
NM_000059.4(BRCA2):c.5489C>T (p.Ser1830Phe)
|
SNV Germline |
Chr13:32339844 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785755 |
rs_1593905616 |
2 SubmittersRCV001024166 |
|
NM_000059.4(BRCA2):c.5534G>A (p.Arg1845Lys)
|
SNV Germline |
Chr13:32339889 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785923 |
rs_1593905700 |
5 SubmittersRCV001024241RCV002250717RCV003645150 |
|
NM_000059.4(BRCA2):c.5537T>A (p.Ile1846Lys)
|
SNV Germline |
Chr13:32339892 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785929 |
rs_763330257 |
2 SubmittersRCV001024243 |
|
NM_000059.4(BRCA2):c.5546G>A (p.Gly1849Asp)
|
SNV Germline |
Chr13:32339901 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940884 |
rs_764527357 |
5 SubmittersRCV001024258RCV001055240 |
|
NM_000059.4(BRCA2):c.5561T>C (p.Val1854Ala)
|
SNV Germline |
Chr13:32339916 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387785977 |
rs_1371364232 |
4 SubmittersRCV001024277RCV001862282RCV004004646 |
|
NM_000059.4(BRCA2):c.5637G>T (p.Glu1879Asp)
|
SNV Germline |
Chr13:32339992 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786136 |
rs_1057521044 |
4 SubmittersRCV001024347RCV001593189RCV002550897 |
|
NM_000059.4(BRCA2):c.5639A>G (p.Asn1880Ser)
|
SNV Germline |
Chr13:32339994 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786141 |
rs_1302337975 |
4 SubmittersRCV004777926RCV001024349RCV001364198 |
|
NM_000059.4(BRCA2):c.5713C>A (p.His1905Asn)
|
SNV Germline |
Chr13:32340068 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786794 |
rs_1593906278 |
3 SubmittersRCV001024441RCV003530139 |
|
NM_000059.4(BRCA2):c.5756A>G (p.Lys1919Arg)
|
SNV Germline |
Chr13:32340111 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787048 |
rs_1593906437 |
2 SubmittersRCV001024488 |
|
NM_000059.4(BRCA2):c.5775G>C (p.Gln1925His)
|
SNV Germline |
Chr13:32340130 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome BRCA2-related disorder Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787120 |
rs_1593906484 |
4 SubmittersRCV001873382RCV004528340RCV001024518 |
|
NM_000059.4(BRCA2):c.5819A>C (p.Glu1940Ala)
|
SNV Germline |
Chr13:32340174 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787278 |
rs_1593906648 |
2 SubmittersRCV001024568 |
|
NM_000059.4(BRCA2):c.5821A>G (p.Lys1941Glu)
|
SNV Germline |
Chr13:32340176 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787288 |
rs_1555284411 |
5 SubmittersRCV001024574RCV001420903RCV003478654RCV002550898 |
|
NM_000059.4(BRCA2):c.5839C>G (p.Pro1947Ala)
|
SNV Germline |
Chr13:32340194 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387787351 |
rs_80358812 |
7 SubmittersRCV001024585RCV001193317RCV001065066RCV004030854RCV004773233 |
|
NM_000059.4(BRCA2):c.5874T>G (p.Cys1958Trp)
|
SNV Germline |
Chr13:32340229 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787444 |
rs_1593906771 |
2 SubmittersRCV001024630 |
|
NM_000059.4(BRCA2):c.5887G>A (p.Gly1963Arg)
|
SNV Germline |
Chr13:32340242 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787472 |
rs_1593906819 |
3 SubmittersRCV001024640RCV002552387 |
|
NM_000059.4(BRCA2):c.6007A>G (p.Ile2003Val)
|
SNV Germline |
Chr13:32340362 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387787691 |
rs_1593907199 |
5 SubmittersRCV001024799RCV001323629RCV004998568 |
|
NM_000059.4(BRCA2):c.6145G>A (p.Val2049Met)
|
SNV Germline |
Chr13:32340500 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions |
Criteria Provided Conflicting Classifications |
CA387788266 |
rs_1276100299 |
5 SubmittersRCV005093255RCV001024941RCV003478656RCV005012452 |
|
NM_000059.4(BRCA2):c.6158C>G (p.Ser2053Cys)
|
SNV Germline |
Chr13:32340513 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788313 |
rs_1555284574 |
4 SubmittersRCV005236536RCV001024957RCV001862308 |
|
NM_000059.4(BRCA2):c.6172T>C (p.Phe2058Leu)
|
SNV Germline |
Chr13:32340527 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387788360 |
rs_80358857 |
3 SubmittersRCV001024969RCV001193234 |
|
NM_000059.4(BRCA2):c.6277C>T (p.His2093Tyr)
|
SNV Germline |
Chr13:32340632 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387788982 |
rs_1593908107 |
4 SubmittersRCV001214457RCV001025068RCV001811624 |
|
NM_000059.4(BRCA2):c.6284C>G (p.Ser2095Ter)
|
SNV Germline |
Chr13:32340639 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387789000 |
rs_1593908124 |
1 SubmittersRCV001025081 |
|
NM_000059.4(BRCA2):c.6314T>G (p.Ile2105Arg)
|
SNV Germline |
Chr13:32340669 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789055 |
rs_1593908217 |
2 SubmittersRCV001025128 |
|
NM_000059.4(BRCA2):c.6328G>C (p.Asp2110His)
|
SNV Germline |
Chr13:32340683 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789075 |
rs_1593908267 |
5 SubmittersRCV001025138RCV001779103RCV002551918 |
|
NM_000059.4(BRCA2):c.6329A>G (p.Asp2110Gly)
|
SNV Germline |
Chr13:32340684 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789077 |
rs_80358873 |
3 SubmittersRCV001025139RCV003645152 |
|
NM_000059.4(BRCA2):c.6337A>C (p.Asn2113His)
|
SNV Germline |
Chr13:32340692 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789095 |
rs_1555284644 |
3 SubmittersRCV001025147RCV001316257 |
|
NM_000059.4(BRCA2):c.6365T>C (p.Met2122Thr)
|
SNV Germline |
Chr13:32340720 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789157 |
rs_1566234419 |
3 SubmittersRCV001025181RCV001873391 |
|
NM_000059.4(BRCA2):c.6372A>C (p.Lys2124Asn)
|
SNV Germline |
Chr13:32340727 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789174 |
rs_1593908412 |
4 SubmittersRCV001045500RCV005056786RCV001025186 |
|
NM_000059.4(BRCA2):c.6427T>C (p.Ser2143Pro)
|
SNV Germline |
Chr13:32340782 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789287 |
rs_1593908619 |
2 SubmittersRCV001025253 |
|
NM_000059.4(BRCA2):c.6496G>A (p.Val2166Ile)
|
SNV Germline |
Chr13:32340851 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789528 |
rs_750084851 |
2 SubmittersRCV001025332 |
|
NM_000059.4(BRCA2):c.6545A>G (p.Lys2182Arg)
|
SNV Germline |
Chr13:32340900 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789747 |
rs_1593909056 |
3 SubmittersRCV002550910RCV001025391 |
|
NM_000059.4(BRCA2):c.6551A>G (p.Gln2184Arg)
|
SNV Germline |
Chr13:32340906 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789786 |
rs_1216313735 |
3 SubmittersRCV001025403RCV003645153 |
|
NM_000059.4(BRCA2):c.6638C>G (p.Ser2213Cys)
|
SNV Germline |
Chr13:32340993 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387790322 |
rs_75925841 |
4 SubmittersRCV001025483RCV002550913RCV003493778 |
|
NM_000059.4(BRCA2):c.6649A>T (p.Lys2217Ter)
|
SNV Germline |
Chr13:32341004 |
Pathogenic/Likely pathogenic |
Gastric cancer Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387790387 |
rs_1555284779 |
6 SubmittersRCV003160183RCV001025495RCV001264523 |
|
NM_000059.4(BRCA2):c.6682G>C (p.Val2228Leu)
|
SNV Germline |
Chr13:32341037 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790568 |
rs_1593909466 |
3 SubmittersRCV005093264RCV001025531 |
|
NM_000059.4(BRCA2):c.6725A>G (p.Asp2242Gly)
|
SNV Germline |
Chr13:32341080 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387791049 |
rs_1593909627 |
3 SubmittersRCV001025579RCV001862332 |
|
NM_000059.4(BRCA2):c.6761T>G (p.Phe2254Cys)
|
SNV Germline |
Chr13:32341116 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791183 |
rs_786202915 |
2 SubmittersRCV001025625 |
|
NM_000059.4(BRCA2):c.6973G>A (p.Val2325Ile)
|
SNV Germline |
Chr13:32346862 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387793060 |
rs_757647065 |
2 SubmittersRCV001025864RCV004803383 |
|
NM_000059.4(BRCA2):c.7043A>G (p.Asn2348Ser)
|
SNV Germline |
Chr13:32354896 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA6941054 |
rs_747817752 |
3 SubmittersRCV001025964RCV001216628RCV003493780 |
|
NM_000059.4(BRCA2):c.7388A>G (p.Asn2463Ser)
|
SNV Germline |
Chr13:32355241 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387741749 |
rs_1593918551 |
2 SubmittersRCV001026358RCV003645155 |
|
NM_000059.4(BRCA2):c.7390C>T (p.Gln2464Ter)
|
SNV Germline |
Chr13:32355243 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387741762 |
rs_572945276 |
2 SubmittersRCV001026368RCV001380612 |
|
NM_000059.4(BRCA2):c.7431T>G (p.Pro2477=)
|
SNV Germline |
Chr13:32355284 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483439560 |
rs_878853601 |
2 SubmittersRCV003478657RCV001026430 |
|
NM_000059.4(BRCA2):c.7453C>T (p.Gln2485Ter)
|
SNV Germline |
Chr13:32356445 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387743079 |
rs_1593919442 |
2 SubmittersRCV001026455RCV005601654 |
|
NM_000059.4(BRCA2):c.7659C>G (p.Asn2553Lys)
|
SNV Germline |
Chr13:32357783 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387744980 |
rs_1593920730 |
3 SubmittersRCV001026671RCV002552416RCV003493783 |
|
NM_000059.4(BRCA2):c.7698T>G (p.Asp2566Glu)
|
SNV Germline |
Chr13:32357822 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387745234 |
rs_1593920849 |
3 SubmittersRCV001026720RCV001301983RCV004004677 |
|
NM_000059.4(BRCA2):c.7701T>A (p.Tyr2567Ter)
|
SNV Germline |
Chr13:32357825 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387745255 |
rs_1555286423 |
1 SubmittersRCV001026734 |
|
NM_000059.4(BRCA2):c.7732G>T (p.Gly2578Ter)
|
SNV Germline |
Chr13:32357856 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387745555 |
rs_1593920920 |
3 SubmittersRCV003473606RCV001026765 |
|
NM_000059.4(BRCA2):c.7852A>C (p.Ile2618Leu)
|
SNV Germline |
Chr13:32362569 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387747049 |
rs_1371216781 |
2 SubmittersRCV001026875RCV005056792 |
|
NM_000059.4(BRCA2):c.7855T>C (p.Trp2619Arg)
|
SNV Germline |
Chr13:32362572 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387747058 |
rs_1593923998 |
4 SubmittersRCV001026877RCV001340662RCV005408649 |
|
NM_000059.4(BRCA2):c.7937G>A (p.Cys2646Tyr)
|
SNV Germline |
Chr13:32362654 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247475247 |
rs_952496908 |
2 SubmittersRCV001026973RCV005093287 |
|
NM_000059.4(BRCA2):c.8025A>G (p.Ile2675Met)
|
SNV Germline |
Chr13:32363227 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387748902 |
rs_1593924875 |
4 SubmittersRCV001027081RCV001344169RCV004998576RCV005359789 |
|
NM_000059.4(BRCA2):c.8081T>C (p.Ile2694Thr)
|
SNV Germline |
Chr13:32363283 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6941186 |
rs_760139297 |
2 SubmittersRCV001027151RCV001862399 |
|
NM_000059.4(BRCA2):c.8122A>G (p.Thr2708Ala)
|
SNV Germline |
Chr13:32363324 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749393 |
rs_1593925141 |
3 SubmittersRCV001027198RCV001862403 |
|
NM_000059.4(BRCA2):c.8131G>T (p.Ala2711Ser)
|
SNV Germline |
Chr13:32363333 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749441 |
rs_1060502439 |
2 SubmittersRCV001027210RCV001873427 |
|
NM_000059.4(BRCA2):c.8261A>T (p.His2754Leu)
|
SNV Germline |
Chr13:32363463 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749997 |
rs_1555287066 |
2 SubmittersRCV001027335RCV002551998 |
|
NM_000059.4(BRCA2):c.8275G>C (p.Val2759Leu)
|
SNV Germline |
Chr13:32363477 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA387750059 |
rs_1320594065 |
5 SubmittersRCV001027352RCV001050995RCV001776092RCV003492212 |
|
NM_000059.4(BRCA2):c.8303T>C (p.Leu2768Pro)
|
SNV Germline |
Chr13:32363505 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387750180 |
rs_587782732 |
5 SubmittersRCV001027388RCV001341364RCV004587016RCV005359791 |
|
NM_000059.4(BRCA2):c.8321T>C (p.Leu2774Pro)
|
SNV Germline |
Chr13:32363523 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387750260 |
rs_786203278 |
2 SubmittersRCV001017549 |
|
NM_000059.4(BRCA2):c.8441A>G (p.Asn2814Ser)
|
SNV Germline |
Chr13:32370511 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752564 |
rs_1593930427 |
3 SubmittersRCV001017778RCV002295321 |
|
NM_000059.4(BRCA2):c.8446G>C (p.Gly2816Arg)
|
SNV Germline |
Chr13:32370516 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387752574 |
rs_1555287651 |
2 SubmittersRCV001017781 |
|
NM_000059.4(BRCA2):c.8456A>G (p.Asp2819Gly)
|
SNV Germline |
Chr13:32370526 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752593 |
rs_1555287655 |
2 SubmittersRCV001017821RCV001210612 |
|
NM_000059.4(BRCA2):c.8488T>A (p.Trp2830Arg)
|
SNV Germline |
Chr13:32370956 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752655 |
rs_1304085334 |
2 SubmittersRCV001017886RCV001305408 |
|
NM_000059.4(BRCA2):c.8492T>G (p.Met2831Arg)
|
SNV Germline |
Chr13:32370960 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752666 |
rs_1384628074 |
2 SubmittersRCV001017909RCV001873306 |
|
NM_000059.4(BRCA2):c.8531A>G (p.Glu2844Gly)
|
SNV Germline |
Chr13:32370999 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA247484126 |
rs_900871740 |
4 SubmittersRCV001017967RCV001050193RCV001759700RCV003461367 |
|
NM_000059.4(BRCA2):c.8634A>G (p.Glu2878=)
|
SNV Germline |
Chr13:32376671 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483261744 |
rs_1593934742 |
2 SubmittersRCV001018109RCV003645135 |
|
NM_000059.4(BRCA2):c.8637C>A (p.Asn2879Lys)
|
SNV Germline |
Chr13:32376674 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387754618 |
rs_775564742 |
2 SubmittersRCV001018111RCV003645136 |
|
NM_000059.4(BRCA2):c.8641A>G (p.Thr2881Ala)
|
SNV Germline |
Chr13:32376678 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387754634 |
rs_1593934753 |
4 SubmittersRCV001018116RCV002549472RCV001772193RCV004004574 |
|
NM_000059.4(BRCA2):c.8672C>T (p.Thr2891Ile)
|
SNV Germline |
Chr13:32376709 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387754746 |
rs_1401510742 |
3 SubmittersRCV001018152RCV002551807RCV004030408 |
|
NM_000059.4(BRCA2):c.8699A>G (p.Asp2900Gly)
|
SNV Germline |
Chr13:32376736 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387754854 |
rs_398122712 |
2 SubmittersRCV001018197RCV001305856 |
|
NM_000059.4(BRCA2):c.8719G>A (p.Ala2907Thr)
|
SNV Germline |
Chr13:32376756 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387754948 |
rs_1593934954 |
5 SubmittersRCV001018233RCV001860898RCV004004576RCV004720036 |
|
NM_000059.4(BRCA2):c.8768A>G (p.Glu2923Gly)
|
SNV Germline |
Chr13:32379330 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387755781 |
rs_1593936528 |
3 SubmittersRCV001018300RCV001036921 |
|
NM_000059.4(BRCA2):c.8980T>C (p.Ser2994Pro)
|
SNV Germline |
Chr13:32379776 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387757404 |
rs_1593937350 |
3 SubmittersRCV001018588RCV001860918RCV003478634 |
|
NM_000059.4(BRCA2):c.8999T>G (p.Leu3000Ter)
|
SNV Germline |
Chr13:32379795 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387757441 |
rs_80359151 |
1 SubmittersRCV001018594 |
|
NM_000059.4(BRCA2):c.9037A>T (p.Thr3013Ser)
|
SNV Germline |
Chr13:32379833 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387757516 |
rs_1555288470 |
2 SubmittersRCV001018693RCV005093170 |
|
NM_000059.4(BRCA2):c.9089C>G (p.Thr3030Arg)
|
SNV Germline |
Chr13:32379885 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387757641 |
rs_587781792 |
2 SubmittersRCV001018821RCV001193837 |
|
NM_000059.4(BRCA2):c.9159G>C (p.Glu3053Asp)
|
SNV Germline |
Chr13:32380048 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387757953 |
rs_1289660997 |
3 SubmittersRCV001018927RCV001052294RCV003461375 |
|
NM_000059.4(BRCA2):c.9325C>T (p.Leu3109Phe)
|
SNV Germline |
Chr13:32394757 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387760985 |
rs_1593199703 |
2 SubmittersRCV001019172RCV003461378 |
|
NM_000059.4(BRCA2):c.9347C>T (p.Pro3116Leu)
|
SNV Germline |
Chr13:32394779 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761078 |
rs_1220080934 |
2 SubmittersRCV001019193RCV001205499 |
|
NM_000059.4(BRCA2):c.9620T>C (p.Ile3207Thr)
|
SNV Germline |
Chr13:32397016 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387763691 |
rs_876658942 |
3 SubmittersRCV001019576RCV002549507 |
|
NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter)
|
SNV Germline |
Chr13:32398205 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387765313 |
rs_1593201677 |
3 SubmittersRCV001019628RCV002549508RCV003485676 |
|
NM_000059.4(BRCA2):c.9767A>G (p.Glu3256Gly)
|
SNV Germline |
Chr13:32398280 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387765784 |
rs_1198621190 |
2 SubmittersRCV001019731RCV005601648 |
|
NM_000059.4(BRCA2):c.10006A>G (p.Ser3336Gly)
|
SNV Germline |
Chr13:32398519 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387767687 |
rs_1311718055 |
3 SubmittersRCV001009651RCV004569856RCV001062384 |
|
NM_000059.4(BRCA2):c.10072G>A (p.Gly3358Arg)
|
SNV Germline |
Chr13:32398585 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387767898 |
rs_1593202253 |
3 SubmittersRCV001016972RCV002290532RCV003645133 |
|
NM_000059.4(BRCA2):c.10075G>A (p.Glu3359Lys)
|
SNV Germline |
Chr13:32398588 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6941470 |
rs_777397727 |
2 SubmittersRCV001016974RCV005093148 |
|
NM_000059.4(BRCA2):c.67+3A>G
|
SNV Germline |
Chr13:32316530 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA915946922 |
rs_1593880835 |
4 SubmittersRCV001025553RCV001356037RCV001862331 |
|
NM_000059.4(BRCA2):c.475+2T>C
|
SNV Germline |
Chr13:32326152 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387757265 |
rs_1555280966 |
2 SubmittersRCV001388345RCV001022990 |
|
NM_000059.4(BRCA2):c.7435+5T>G
|
SNV Germline |
Chr13:32355293 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6941092 |
rs_775973095 |
3 SubmittersRCV001026434RCV003493781RCV003645156 |
|
NM_000059.4(BRCA2):c.7805+4C>A
|
SNV Germline |
Chr13:32357933 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions not specified |
Criteria Provided Conflicting Classifications |
CA915946878 |
rs_769367815 |
5 SubmittersRCV001026829RCV001549589RCV005394650RCV005236539 |
|
NM_000059.4(BRCA2):c.8755-2A>G
|
SNV Germline |
Chr13:32379315 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387755677 |
rs_1566252482 |
1 SubmittersRCV001018280 |
|
NM_000059.4(BRCA2):c.8755-1G>T
|
SNV Germline |
Chr13:32379316 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387755687 |
rs_81002812 |
2 SubmittersRCV001018279RCV004017774 |
|
NM_000059.4(BRCA2):c.8954-3C>T
|
SNV Germline |
Chr13:32379747 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6941322 |
rs_81002844 |
4 SubmittersRCV001018543RCV002551811RCV001585924 |
|
NM_000059.4(BRCA2):c.3737A>G (p.Asn1246Ser)
|
SNV Germline |
Chr13:32338092 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778132 |
rs_876660679 |
3 SubmittersRCV001034467RCV002346235 |
|
NM_000059.4(BRCA2):c.400C>A (p.Leu134Ile)
|
SNV Germline |
Chr13:32325159 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387756706 |
rs_2072335234 |
2 SubmittersRCV001041077RCV004950144 |
|
NM_000059.4(BRCA2):c.919A>G (p.Ser307Gly)
|
SNV Germline |
Chr13:32332397 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247496240 |
rs_1039490629 |
3 SubmittersRCV001070682RCV003158418 |
|
NM_000059.4(BRCA2):c.946A>G (p.Arg316Gly)
|
SNV Germline |
Chr13:32332424 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760827 |
rs_2072400992 |
2 SubmittersRCV001061993RCV003158388 |
|
NM_000059.4(BRCA2):c.967G>T (p.Val323Leu)
|
SNV Germline |
Chr13:32332445 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760907 |
rs_1566222487 |
2 SubmittersRCV001064990RCV003158400 |
|
NM_000059.4(BRCA2):c.1007C>A (p.Ala336Glu)
|
SNV Germline |
Chr13:32332485 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761079 |
rs_2072402481 |
2 SubmittersRCV001047607RCV003158340 |
|
NM_000059.4(BRCA2):c.1048G>T (p.Glu350Ter)
|
SNV Germline |
Chr13:32332526 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387761266 |
rs_2072403231 |
2 SubmittersRCV001044365RCV002400253 |
|
NM_000059.4(BRCA2):c.1063G>T (p.Val355Leu)
|
SNV Germline |
Chr13:32332541 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761355 |
rs_2072403612 |
2 SubmittersRCV001061333RCV003158386 |
|
NM_000059.4(BRCA2):c.1148T>A (p.Ile383Asn)
|
SNV Germline |
Chr13:32332626 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761857 |
rs_2072405281 |
2 SubmittersRCV001067731RCV003158408 |
|
NM_000059.4(BRCA2):c.1241T>G (p.Leu414Trp)
|
SNV Germline |
Chr13:32332719 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762233 |
rs_397507576 |
3 SubmittersRCV001037421RCV003158299 |
|
NM_000059.4(BRCA2):c.1252T>C (p.Ser418Pro)
|
SNV Germline |
Chr13:32332730 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762282 |
rs_2072407631 |
3 SubmittersRCV001039888RCV002416341 |
|
NM_000059.4(BRCA2):c.1271C>G (p.Ser424Ter)
|
SNV Germline |
Chr13:32332749 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387762381 |
rs_1566223138 |
1 SubmittersRCV001060024 |
|
NM_000059.4(BRCA2):c.1283T>C (p.Leu428Pro)
|
SNV Germline |
Chr13:32332761 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762441 |
rs_2072408424 |
2 SubmittersRCV001041673RCV003158315 |
|
NM_000059.4(BRCA2):c.1287A>T (p.Leu429Phe)
|
SNV Germline |
Chr13:32332765 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762456 |
rs_80359782 |
2 SubmittersRCV001063939RCV003158397 |
|
NM_000059.4(BRCA2):c.1349C>T (p.Ser450Phe)
|
SNV Germline |
Chr13:32332827 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762770 |
rs_876659037 |
2 SubmittersRCV001056034RCV003158371 |
|
NM_000059.4(BRCA2):c.1364C>T (p.Ser455Leu)
|
SNV Germline |
Chr13:32332842 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762874 |
rs_2072410817 |
2 SubmittersRCV001059155RCV003158380 |
|
NM_000059.4(BRCA2):c.1384G>A (p.Glu462Lys)
|
SNV Germline |
Chr13:32332862 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387763024 |
rs_1593892698 |
3 SubmittersRCV001036152RCV003158296RCV003478664 |
|
NM_000059.4(BRCA2):c.1444C>A (p.Leu482Ile)
|
SNV Germline |
Chr13:32332922 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764312 |
rs_587776460 |
2 SubmittersRCV001061205RCV003158385 |
|
NM_000059.4(BRCA2):c.1534C>T (p.Pro512Ser)
|
SNV Germline |
Chr13:32333012 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764605 |
rs_2072415642 |
2 SubmittersRCV001035987RCV003158295 |
|
NM_000059.4(BRCA2):c.1549A>G (p.Asn517Asp)
|
SNV Germline |
Chr13:32333027 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764657 |
rs_2072416152 |
2 SubmittersRCV001039582RCV003158305 |
|
NM_000059.4(BRCA2):c.1661G>C (p.Cys554Ser)
|
SNV Germline |
Chr13:32333139 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765032 |
rs_748215651 |
2 SubmittersRCV001063001RCV003158394 |
|
NM_000059.4(BRCA2):c.1732G>A (p.Gly578Ser)
|
SNV Germline |
Chr13:32333210 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765397 |
rs_1555282036 |
3 SubmittersRCV001042959RCV003158321 |
|
NM_000059.4(BRCA2):c.1738A>G (p.Ile580Val)
|
SNV Germline |
Chr13:32333216 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765425 |
rs_2072420748 |
2 SubmittersRCV001038252RCV003158303 |
|
NM_000059.4(BRCA2):c.1740A>G (p.Ile580Met)
|
SNV Germline |
Chr13:32333218 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940538 |
rs_750989404 |
4 SubmittersRCV001042317RCV001191189 |
|
NM_000059.4(BRCA2):c.1787A>G (p.Asp596Gly)
|
SNV Germline |
Chr13:32333265 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765741 |
rs_2072422145 |
2 SubmittersRCV001044137RCV003158325 |
|
NM_000059.4(BRCA2):c.1927G>C (p.Val643Leu)
|
SNV Germline |
Chr13:32336282 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768285 |
rs_748394046 |
2 SubmittersRCV001043129RCV003158323 |
|
NM_000059.4(BRCA2):c.1943C>T (p.Ser648Leu)
|
SNV Germline |
Chr13:32336298 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768384 |
rs_886040398 |
2 SubmittersRCV001065340RCV003158401 |
|
NM_000059.4(BRCA2):c.1967C>T (p.Thr656Ile)
|
SNV Germline |
Chr13:32336322 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Pancreatic cancer, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387768521 |
rs_876660857 |
4 SubmittersRCV001048220RCV002416371RCV003141973 |
|
NM_000059.4(BRCA2):c.2020G>T (p.Glu674Ter)
|
SNV Germline |
Chr13:32336375 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387768824 |
rs_879255439 |
3 SubmittersRCV001055104RCV002416407RCV003473656 |
|
NM_000059.4(BRCA2):c.2041G>C (p.Val681Leu)
|
SNV Germline |
Chr13:32336396 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768926 |
rs_2072449369 |
2 SubmittersRCV001058278RCV003158378 |
|
NM_000059.4(BRCA2):c.2107A>G (p.Thr703Ala)
|
SNV Germline |
Chr13:32336462 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387769947 |
rs_2072450524 |
3 SubmittersRCV001037941RCV003158301RCV003223689 |
|
NM_000059.4(BRCA2):c.2254G>A (p.Asp752Asn)
|
SNV Germline |
Chr13:32336609 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770920 |
rs_2072453633 |
2 SubmittersRCV001057062RCV003158375 |
|
NM_000059.4(BRCA2):c.2254G>C (p.Asp752His)
|
SNV Germline |
Chr13:32336609 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770922 |
rs_2072453633 |
2 SubmittersRCV001062217RCV003158389 |
|
NM_000059.4(BRCA2):c.2344C>G (p.Leu782Val)
|
SNV Germline |
Chr13:32336699 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940596 |
rs_749810048 |
4 SubmittersRCV001057605RCV001176135RCV004000091 |
|
NM_000059.4(BRCA2):c.2352G>A (p.Met784Ile)
|
SNV Germline |
Chr13:32336707 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771653 |
rs_2072455836 |
3 SubmittersRCV001035492RCV002445208 |
|
NM_000059.4(BRCA2):c.2455C>G (p.Gln819Glu)
|
SNV Germline |
Chr13:32336810 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772300 |
rs_397507629 |
2 SubmittersRCV001055854RCV003158370 |
|
NM_000059.4(BRCA2):c.2466T>A (p.Cys822Ter)
|
SNV Germline |
Chr13:32336821 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387772346 |
rs_2072458139 |
3 SubmittersRCV001038402RCV003346265RCV005601660 |
|
NM_000059.4(BRCA2):c.2518A>G (p.Met840Val)
|
SNV Germline |
Chr13:32336873 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772460 |
rs_2072459289 |
4 SubmittersRCV001050467RCV001524605 |
|
NM_000059.4(BRCA2):c.2590C>A (p.Gln864Lys)
|
SNV Germline |
Chr13:32336945 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772608 |
rs_1060502414 |
2 SubmittersRCV001035243RCV003158291 |
|
NM_000059.4(BRCA2):c.2614A>G (p.Lys872Glu)
|
SNV Germline |
Chr13:32336969 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773169 |
rs_2072461201 |
2 SubmittersRCV001035592RCV003158293 |
|
NM_000059.4(BRCA2):c.2834A>T (p.Lys945Ile)
|
SNV Germline |
Chr13:32337189 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773861 |
rs_1434920074 |
2 SubmittersRCV001049216RCV003158352 |
|
NM_000059.4(BRCA2):c.3051C>G (p.Ile1017Met)
|
SNV Germline |
Chr13:32337406 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775038 |
rs_786201561 |
2 SubmittersRCV001047793RCV003158342 |
|
NM_000059.4(BRCA2):c.3136G>A (p.Glu1046Lys)
|
SNV Germline |
Chr13:32337491 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940670 |
rs_772342691 |
3 SubmittersRCV001070717RCV002320350 |
|
NM_000059.4(BRCA2):c.3215T>G (p.Leu1072Ter)
|
SNV Germline |
Chr13:32337570 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387775890 |
rs_2072475273 |
3 SubmittersRCV001043702RCV001784589RCV004031328 |
|
NM_000059.4(BRCA2):c.3250A>G (p.Ser1084Gly)
|
SNV Germline |
Chr13:32337605 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940683 |
rs_369907107 |
2 SubmittersRCV001054962RCV003158368 |
|
NM_000059.4(BRCA2):c.3306T>A (p.Asn1102Lys)
|
SNV Germline |
Chr13:32337661 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776187 |
rs_1300305757 |
4 SubmittersRCV001071164RCV003478691RCV003158421 |
|
NM_000059.4(BRCA2):c.3307T>G (p.Leu1103Val)
|
SNV Germline |
Chr13:32337662 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940686 |
rs_773303914 |
2 SubmittersRCV001068762RCV003158414 |
|
NM_000059.4(BRCA2):c.3325G>C (p.Ala1109Pro)
|
SNV Germline |
Chr13:32337680 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776253 |
rs_752886421 |
2 SubmittersRCV001050065RCV003158357 |
|
NM_000059.4(BRCA2):c.3391A>G (p.Arg1131Gly)
|
SNV Germline |
Chr13:32337746 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387776450 |
rs_2072479150 |
3 SubmittersRCV001038124RCV003158302RCV004004719 |
|
NM_000059.4(BRCA2):c.3404A>G (p.Tyr1135Cys)
|
SNV Germline |
Chr13:32337759 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387776478 |
rs_2072479515 |
6 SubmittersRCV001049830RCV001189035RCV004004796RCV005401708 |
|
NM_000059.4(BRCA2):c.3407T>G (p.Ile1136Arg)
|
SNV Germline |
Chr13:32337762 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776484 |
rs_398122765 |
2 SubmittersRCV001047288RCV003158338 |
|
NM_000059.4(BRCA2):c.3482A>T (p.Asp1161Val)
|
SNV Germline |
Chr13:32337837 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776870 |
rs_1060502458 |
2 SubmittersRCV001071715RCV003158424 |
|
NM_000059.4(BRCA2):c.3521G>T (p.Gly1174Val)
|
SNV Germline |
Chr13:32337876 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777054 |
rs_1555283272 |
5 SubmittersRCV001059937RCV002451254 |
|
NM_000059.4(BRCA2):c.3601A>G (p.Asn1201Asp)
|
SNV Germline |
Chr13:32337956 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777499 |
rs_2072484460 |
2 SubmittersRCV001060716RCV003158384 |
|
NM_000059.4(BRCA2):c.3677A>C (p.Lys1226Thr)
|
SNV Germline |
Chr13:32338032 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778003 |
rs_80358612 |
2 SubmittersRCV001039978RCV003158308 |
|
NM_000059.4(BRCA2):c.3688T>C (p.Ser1230Pro)
|
SNV Germline |
Chr13:32338043 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387778024 |
rs_876659979 |
4 SubmittersRCV001065416RCV003158402RCV004000145 |
|
NM_000059.4(BRCA2):c.3752C>A (p.Thr1251Asn)
|
SNV Germline |
Chr13:32338107 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778188 |
rs_1555283384 |
2 SubmittersRCV001041271RCV003158313 |
|
NM_000059.4(BRCA2):c.3763G>A (p.Val1255Ile)
|
SNV Germline |
Chr13:32338118 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778224 |
rs_80358617 |
3 SubmittersRCV001035008RCV002346240 |
|
NM_000059.4(BRCA2):c.3926T>C (p.Ile1309Thr)
|
SNV Germline |
Chr13:32338281 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778839 |
rs_1566229403 |
3 SubmittersRCV001062785RCV002374959 |
|
NM_000059.4(BRCA2):c.3996T>G (p.His1332Gln)
|
SNV Germline |
Chr13:32338351 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778984 |
rs_1593901143 |
2 SubmittersRCV001048321RCV003158346 |
|
NM_000059.4(BRCA2):c.4011T>G (p.Asp1337Glu)
|
SNV Germline |
Chr13:32338366 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779019 |
rs_2072493596 |
3 SubmittersRCV001035232RCV003158290 |
|
NM_000059.4(BRCA2):c.4049A>C (p.His1350Pro)
|
SNV Germline |
Chr13:32338404 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779103 |
rs_2072494442 |
2 SubmittersRCV001045263RCV003158329 |
|
NM_000059.4(BRCA2):c.4049A>G (p.His1350Arg)
|
SNV Germline |
Chr13:32338404 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779104 |
rs_2072494442 |
2 SubmittersRCV001052298RCV003158363 |
|
NM_000059.4(BRCA2):c.4124A>G (p.Glu1375Gly)
|
SNV Germline |
Chr13:32338479 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779345 |
rs_2072496648 |
2 SubmittersRCV001067995RCV003158410 |
|
NM_000059.4(BRCA2):c.4132A>G (p.Thr1378Ala)
|
SNV Germline |
Chr13:32338487 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779380 |
rs_1204269313 |
2 SubmittersRCV001056735RCV003158374 |
|
NM_000059.4(BRCA2):c.4135C>T (p.Gln1379Ter)
|
SNV Germline |
Chr13:32338490 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387779388 |
rs_2072497088 |
2 SubmittersRCV001053734RCV004570202 |
|
NM_000059.4(BRCA2):c.4255A>C (p.Lys1419Gln)
|
SNV Germline |
Chr13:32338610 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780454 |
rs_2072499955 |
2 SubmittersRCV001047307RCV003158339 |
|
NM_000059.4(BRCA2):c.4322A>C (p.Glu1441Ala)
|
SNV Germline |
Chr13:32338677 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780824 |
rs_1198430908 |
2 SubmittersRCV001070822RCV003158419 |
|
NM_000059.4(BRCA2):c.4364A>T (p.Glu1455Val)
|
SNV Germline |
Chr13:32338719 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780982 |
rs_2072502464 |
4 SubmittersRCV001070105RCV003158416 |
|
NM_000059.4(BRCA2):c.4391C>G (p.Ser1464Cys)
|
SNV Germline |
Chr13:32338746 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781093 |
rs_587776464 |
4 SubmittersRCV001062386RCV003158392 |
|
NM_000059.4(BRCA2):c.4415A>G (p.Lys1472Arg)
|
SNV Germline |
Chr13:32338770 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781204 |
rs_2072503705 |
4 SubmittersRCV001041779RCV003158316 |
|
NM_000059.4(BRCA2):c.4463A>G (p.His1488Arg)
|
SNV Germline |
Chr13:32338818 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781424 |
rs_1335405008 |
3 SubmittersRCV001068027RCV002327353 |
|
NM_000059.4(BRCA2):c.4474A>G (p.Lys1492Glu)
|
SNV Germline |
Chr13:32338829 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781472 |
rs_1057517636 |
2 SubmittersRCV001056309RCV003158372 |
|
NM_000059.4(BRCA2):c.4499G>A (p.Gly1500Glu)
|
SNV Germline |
Chr13:32338854 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781575 |
rs_2072505831 |
2 SubmittersRCV001049507RCV003158355 |
|
NM_000059.4(BRCA2):c.4574A>T (p.His1525Leu)
|
SNV Germline |
Chr13:32338929 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387781880 |
rs_397507336 |
6 SubmittersRCV001040512RCV001524520RCV001776098RCV004004732 |
|
NM_000059.4(BRCA2):c.4584C>A (p.Ser1528Arg)
|
SNV Germline |
Chr13:32338939 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781912 |
rs_80359788 |
2 SubmittersRCV001039919RCV003158306 |
|
NM_000059.4(BRCA2):c.4586G>A (p.Gly1529Glu)
|
SNV Germline |
Chr13:32338941 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781922 |
rs_2072508418 |
2 SubmittersRCV001047042RCV003158337 |
|
NM_000059.4(BRCA2):c.4645A>G (p.Lys1549Glu)
|
SNV Germline |
Chr13:32339000 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782166 |
rs_2072509841 |
3 SubmittersRCV001037491RCV002337098 |
|
NM_000059.4(BRCA2):c.4651C>G (p.Gln1551Glu)
|
SNV Germline |
Chr13:32339006 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782192 |
rs_876661062 |
3 SubmittersRCV001063661RCV002339317 |
|
NM_000059.4(BRCA2):c.4688G>C (p.Trp1563Ser)
|
SNV Germline |
Chr13:32339043 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782847 |
rs_864622546 |
2 SubmittersRCV001064296RCV003158398 |
|
NM_000059.4(BRCA2):c.4707C>G (p.Tyr1569Ter)
|
SNV Germline |
Chr13:32339062 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387782921 |
rs_878853585 |
2 SubmittersRCV001071210RCV002339348 |
|
NM_000059.4(BRCA2):c.4715C>G (p.Ala1572Gly)
|
SNV Germline |
Chr13:32339070 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782956 |
rs_2072511378 |
3 SubmittersRCV001042578RCV002339212 |
|
NM_000059.4(BRCA2):c.4745C>T (p.Thr1582Ile)
|
SNV Germline |
Chr13:32339100 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940810 |
rs_746821851 |
3 SubmittersRCV001039927RCV003158307 |
|
NM_000059.4(BRCA2):c.4750G>C (p.Glu1584Gln)
|
SNV Germline |
Chr13:32339105 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247508355 |
rs_745632282 |
2 SubmittersRCV001047796RCV003158343 |
|
NM_000059.4(BRCA2):c.4800T>G (p.Asn1600Lys)
|
SNV Germline |
Chr13:32339155 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783256 |
rs_2072513080 |
2 SubmittersRCV001070307RCV003158417 |
|
NM_000059.4(BRCA2):c.4852G>A (p.Asp1618Asn)
|
SNV Germline |
Chr13:32339207 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783390 |
rs_2072514226 |
4 SubmittersRCV001053525RCV001800946RCV003158367 |
|
NM_000059.4(BRCA2):c.4883A>G (p.Lys1628Arg)
|
SNV Germline |
Chr13:32339238 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783499 |
rs_2072514952 |
3 SubmittersRCV001049917RCV003158356 |
|
NM_000059.4(BRCA2):c.4899C>G (p.Ile1633Met)
|
SNV Germline |
Chr13:32339254 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247508612 |
rs_1028371302 |
3 SubmittersRCV001067292RCV003158407 |
|
NM_000059.4(BRCA2):c.4936G>C (p.Glu1646Gln)
|
SNV Germline |
Chr13:32339291 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783693 |
rs_886038111 |
2 SubmittersRCV001071202RCV003158422 |
|
NM_000059.4(BRCA2):c.5054C>T (p.Ser1685Leu)
|
SNV Germline |
Chr13:32339409 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784028 |
rs_398122791 |
5 SubmittersRCV001034946RCV004004685RCV003158289 |
|
NM_000059.4(BRCA2):c.5065G>A (p.Ala1689Thr)
|
SNV Germline |
Chr13:32339420 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940844 |
rs_767200163 |
3 SubmittersRCV001050538RCV002339254 |
|
NM_000059.4(BRCA2):c.5083G>T (p.Glu1695Ter)
|
SNV Germline |
Chr13:32339438 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387784084 |
rs_938190132 |
3 SubmittersRCV001036686RCV002337091RCV003461433 |
|
NM_000059.4(BRCA2):c.5139T>A (p.Asn1713Lys)
|
SNV Germline |
Chr13:32339494 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784194 |
rs_2072521292 |
2 SubmittersRCV001044251RCV003158326 |
|
NM_000059.4(BRCA2):c.5164A>C (p.Ser1722Arg)
|
SNV Germline |
Chr13:32339519 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784249 |
rs_80358741 |
2 SubmittersRCV001042910RCV003158319 |
|
NM_000059.4(BRCA2):c.5180A>G (p.Asn1727Ser)
|
SNV Germline |
Chr13:32339535 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784552 |
rs_2072522543 |
2 SubmittersRCV001062352RCV003158391 |
|
NM_000059.4(BRCA2):c.5201A>T (p.Glu1734Val)
|
SNV Germline |
Chr13:32339556 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784593 |
rs_1200008651 |
4 SubmittersRCV001065373RCV001181459 |
|
NM_000059.4(BRCA2):c.5309C>G (p.Ser1770Cys)
|
SNV Germline |
Chr13:32339664 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784859 |
rs_2072526480 |
2 SubmittersRCV001055039RCV003158369 |
|
NM_000059.4(BRCA2):c.5435A>T (p.Glu1812Val)
|
SNV Germline |
Chr13:32339790 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785507 |
rs_2072529304 |
2 SubmittersRCV001071882RCV003158425 |
|
NM_000059.4(BRCA2):c.5476G>C (p.Ala1826Pro)
|
SNV Germline |
Chr13:32339831 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785698 |
rs_2072530360 |
2 SubmittersRCV001053218RCV003158365 |
|
NM_000059.4(BRCA2):c.5486T>C (p.Leu1829Ser)
|
SNV Germline |
Chr13:32339841 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785739 |
rs_2072530512 |
3 SubmittersRCV001060580RCV002348439 |
|
NM_000059.4(BRCA2):c.5512G>T (p.Glu1838Ter)
|
SNV Germline |
Chr13:32339867 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387785843 |
rs_2072531117 |
1 SubmittersRCV001066367 |
|
NM_000059.4(BRCA2):c.5566C>T (p.His1856Tyr)
|
SNV Germline |
Chr13:32339921 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940886 |
rs_755791142 |
5 SubmittersRCV001043657RCV003158324RCV001819757RCV004004763 |
|
NM_000059.4(BRCA2):c.5617G>T (p.Val1873Leu)
|
SNV Germline |
Chr13:32339972 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786100 |
rs_2072533593 |
2 SubmittersRCV001041217RCV003158312 |
|
NM_000059.4(BRCA2):c.5702A>G (p.Glu1901Gly)
|
SNV Germline |
Chr13:32340057 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786732 |
rs_773600818 |
2 SubmittersRCV001048085RCV003158344 |
|
NM_000059.4(BRCA2):c.5741G>T (p.Ser1914Ile)
|
SNV Germline |
Chr13:32340096 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786970 |
rs_80358801 |
3 SubmittersRCV001051485RCV003158361 |
|
NM_000059.4(BRCA2):c.5796T>G (p.His1932Gln)
|
SNV Germline |
Chr13:32340151 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787195 |
rs_786203515 |
3 SubmittersRCV001042249RCV003158317 |
|
NM_000059.4(BRCA2):c.5836T>G (p.Ser1946Ala)
|
SNV Germline |
Chr13:32340191 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787344 |
rs_80358811 |
3 SubmittersRCV001052809RCV003158364 |
|
NM_000059.4(BRCA2):c.5998T>C (p.Phe2000Leu)
|
SNV Germline |
Chr13:32340353 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787670 |
rs_730881541 |
2 SubmittersRCV001045630RCV003158332 |
|
NM_000059.4(BRCA2):c.6020C>T (p.Thr2007Ile)
|
SNV Germline |
Chr13:32340375 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Malignant tumor of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787749 |
rs_397507363 |
3 SubmittersRCV001040701RCV001356070RCV003158311 |
|
NM_000059.4(BRCA2):c.6076A>C (p.Thr2026Pro)
|
SNV Germline |
Chr13:32340431 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387787990 |
rs_587782249 |
4 SubmittersRCV001066255RCV002355083RCV002509607 |
|
NM_000059.4(BRCA2):c.6085G>A (p.Glu2029Lys)
|
SNV Germline |
Chr13:32340440 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788031 |
rs_397507828 |
3 SubmittersRCV001035558RCV003158292 |
|
NM_000059.4(BRCA2):c.6101G>C (p.Arg2034Pro)
|
SNV Germline |
Chr13:32340456 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788094 |
rs_80358849 |
2 SubmittersRCV001042259RCV003158318 |
|
NM_000059.4(BRCA2):c.6104C>T (p.Thr2035Ile)
|
SNV Germline |
Chr13:32340459 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788105 |
rs_2072546585 |
2 SubmittersRCV001035596RCV003158294 |
|
NM_000059.4(BRCA2):c.6137C>T (p.Ser2046Leu)
|
SNV Germline |
Chr13:32340492 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788231 |
rs_2072547315 |
2 SubmittersRCV001065891RCV003158403 |
|
NM_000059.4(BRCA2):c.6214T>C (p.Ser2072Pro)
|
SNV Germline |
Chr13:32340569 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788860 |
rs_878853594 |
2 SubmittersRCV001034943RCV003158288 |
|
NM_000059.4(BRCA2):c.6229A>T (p.Lys2077Ter)
|
SNV Germline |
Chr13:32340584 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387788889 |
rs_2072549579 |
2 SubmittersRCV001056984RCV005306255 |
|
NM_000059.4(BRCA2):c.6249T>A (p.Phe2083Leu)
|
SNV Germline |
Chr13:32340604 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788926 |
rs_2072550078 |
2 SubmittersRCV001066833RCV003158406 |
|
NM_000059.4(BRCA2):c.6275T>C (p.Leu2092Pro)
|
SNV Germline |
Chr13:32340630 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788979 |
rs_2072550918 |
3 SubmittersRCV001057688RCV002355051 |
|
NM_000059.4(BRCA2):c.6279C>G (p.His2093Gln)
|
SNV Germline |
Chr13:32340634 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788988 |
rs_1566234239 |
2 SubmittersRCV001048641RCV003158348 |
|
NM_000059.4(BRCA2):c.6340C>T (p.Pro2114Ser)
|
SNV Germline |
Chr13:32340695 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789104 |
rs_2072552879 |
2 SubmittersRCV001048485RCV003158347 |
|
NM_000059.4(BRCA2):c.6421G>T (p.Gly2141Cys)
|
SNV Germline |
Chr13:32340776 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247513726 |
rs_907252547 |
4 SubmittersRCV001067291RCV002365767RCV005411657 |
|
NM_000059.4(BRCA2):c.6442T>G (p.Ser2148Ala)
|
SNV Germline |
Chr13:32340797 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387789315 |
rs_1314863621 |
5 SubmittersRCV001041355RCV003117715RCV003158314RCV004803395 |
|
NM_000059.4(BRCA2):c.6553G>T (p.Ala2185Ser)
|
SNV Germline |
Chr13:32340908 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789806 |
rs_746070652 |
5 SubmittersRCV001066253RCV001800951RCV004800684RCV003158404 |
|
NM_000059.4(BRCA2):c.6604G>C (p.Asp2202His)
|
SNV Germline |
Chr13:32340959 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387790111 |
rs_2072560535 |
5 SubmittersRCV001044245RCV002363591RCV005414552RCV004004768 |
|
NM_000059.4(BRCA2):c.6667T>A (p.Phe2223Ile)
|
SNV Germline |
Chr13:32341022 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790492 |
rs_2072562075 |
2 SubmittersRCV001062299RCV003158390 |
|
NM_000059.4(BRCA2):c.6685G>A (p.Glu2229Lys)
|
SNV Germline |
Chr13:32341040 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387790577 |
rs_730881548 |
3 SubmittersRCV001037623RCV003158300RCV004004711 |
|
NM_000059.4(BRCA2):c.6701T>C (p.Phe2234Ser)
|
SNV Germline |
Chr13:32341056 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790638 |
rs_2072563010 |
2 SubmittersRCV001042948RCV003158320 |
|
NM_000059.4(BRCA2):c.6851C>G (p.Ser2284Ter)
|
SNV Germline |
Chr13:32344567 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387792635 |
rs_2072597446 |
1 SubmittersRCV001050383 |
|
NM_000059.4(BRCA2):c.7433T>G (p.Leu2478Ter)
|
SNV Germline |
Chr13:32355286 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387742125 |
rs_2072685323 |
1 SubmittersRCV001046085 |
|
NM_000059.4(BRCA2):c.7465G>T (p.Asp2489Tyr)
|
SNV Germline |
Chr13:32356457 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387743174 |
rs_1422201756 |
2 SubmittersRCV001055253RCV005520400 |
|
NM_000059.4(BRCA2):c.7467T>G (p.Asp2489Glu)
|
SNV Germline |
Chr13:32356459 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387743191 |
rs_1212282286 |
2 SubmittersRCV001052434RCV003160406 |
|
NM_000059.4(BRCA2):c.7525A>G (p.Ser2509Gly)
|
SNV Germline |
Chr13:32356517 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387743547 |
rs_1555286268 |
3 SubmittersRCV001060288RCV002393293RCV003227906 |
|
NM_000059.4(BRCA2):c.7658A>G (p.Asn2553Ser)
|
SNV Germline |
Chr13:32357782 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387744972 |
rs_2072708555 |
2 SubmittersRCV001067643RCV002393327 |
|
NM_000059.4(BRCA2):c.7726G>A (p.Gly2576Arg)
|
SNV Germline |
Chr13:32357850 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387745484 |
rs_1210418849 |
5 SubmittersRCV001069285RCV001190008RCV004697041RCV004000183 |
|
NM_000059.4(BRCA2):c.8141A>C (p.Gln2714Pro)
|
SNV Germline |
Chr13:32363343 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA387749477 |
rs_80359059 |
4 SubmittersRCV001071774RCV002418569RCV004000207RCV003492218 |
|
NM_000059.4(BRCA2):c.8152A>G (p.Ile2718Val)
|
SNV Germline |
Chr13:32363354 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA387749521 |
rs_2072757385 |
4 SubmittersRCV001059632RCV001185520RCV005359828 |
|
NM_000059.4(BRCA2):c.8320C>G (p.Leu2774Val)
|
SNV Germline |
Chr13:32363522 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387750254 |
rs_2072761310 |
2 SubmittersRCV001058865RCV005532836 |
|
NM_000059.4(BRCA2):c.8474C>A (p.Ala2825Glu)
|
SNV Germline |
Chr13:32370544 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387752626 |
rs_2072823455 |
3 SubmittersRCV001069740RCV004030724RCV003478687 |
|
NM_000059.4(BRCA2):c.8545A>C (p.Lys2849Gln)
|
SNV Germline |
Chr13:32371013 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387752766 |
rs_80359109 |
2 SubmittersRCV001069912RCV003283956 |
|
NM_000059.4(BRCA2):c.8582G>T (p.Arg2861Ile)
|
SNV Germline |
Chr13:32371050 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387752842 |
rs_1225373762 |
3 SubmittersRCV001068975RCV002445358RCV004689981 |
|
NM_000059.4(BRCA2):c.8740C>A (p.Pro2914Thr)
|
SNV Germline |
Chr13:32376777 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387755037 |
rs_876660226 |
2 SubmittersRCV001037826RCV003160231 |
|
NM_000059.4(BRCA2):c.8743G>A (p.Ala2915Thr)
|
SNV Germline |
Chr13:32376780 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387755050 |
rs_2072876301 |
2 SubmittersRCV001037970RCV002445219 |
|
NM_000059.4(BRCA2):c.8854A>T (p.Met2952Leu)
|
SNV Germline |
Chr13:32379416 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387756299 |
rs_397508016 |
3 SubmittersRCV001045362RCV001776101RCV005532821 |
|
NM_000059.4(BRCA2):c.8870A>G (p.Gln2957Arg)
|
SNV Germline |
Chr13:32379432 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6941306 |
rs_763943647 |
4 SubmittersRCV001800954RCV002374998RCV001070819 |
|
NM_000059.4(BRCA2):c.8878C>A (p.Gln2960Lys)
|
SNV Germline |
Chr13:32379440 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387756428 |
rs_80359140 |
3 SubmittersRCV001071936RCV001806018RCV002375006 |
|
NM_000059.4(BRCA2):c.9166C>T (p.His3056Tyr)
|
SNV Germline |
Chr13:32380055 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757982 |
rs_1420447960 |
2 SubmittersRCV001040262RCV004031133 |
|
NM_000059.4(BRCA2):c.10199G>A (p.Ser3400Asn)
|
SNV Germline |
Chr13:32398712 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6941480 |
rs_763642189 |
3 SubmittersRCV001042904RCV004601335 |
|
NM_000059.4(BRCA2):c.7806-1G>C
|
SNV Germline |
Chr13:32362522 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387746915 |
rs_81002860 |
2 SubmittersRCV001055024RCV002409457 |
|
NM_000059.4(BRCA2):c.475+6A>G
|
SNV Germline |
Chr13:32326156 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA916080529 |
rs_2072344881 |
2 SubmittersRCV001071899RCV001188571 |
|
NM_000059.4(BRCA2):c.7805+2T>C
|
SNV Germline |
Chr13:32357931 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387746189 |
rs_886040941 |
2 SubmittersRCV001045776RCV005601664 |
|
NM_000059.4(BRCA2):c.5678G>A (p.Cys1893Tyr)
|
SNV Germline |
Chr13:32340033 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786212 |
rs_2072535635 |
2 SubmittersRCV001091964RCV003158426 |
|
NM_000059.4(BRCA2):c.9648+127G>A
|
SNV Germline |
Chr13:32397171 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247508309 |
rs_182622896 |
5 SubmittersRCV001171421RCV002069616RCV002256680RCV001593262 |
|
NC_000013.11:g.32315487G>T
|
SNV Germline |
Chr13:32315487 |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247478018 |
rs_1036870835 |
4 SubmittersRCV001111445RCV001111446RCV001425606RCV002259082RCV002511042 |
|
NM_000059.4(BRCA2):c.844C>G (p.His282Asp)
|
SNV Germline |
Chr13:32332322 |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760509 |
rs_768605944 |
3 SubmittersRCV001113541RCV001114948RCV003158428RCV005093518 |
|
NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile)
|
SNV Germline |
Chr13:32332702 |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762147 |
rs_1593892275 |
3 SubmittersRCV001112105RCV001112106RCV003158427 |
|
NM_000059.4(BRCA2):c.632-3C>T
|
SNV Germline |
Chr13:32329440 |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA658795320 |
rs_568027879 |
4 SubmittersRCV001113539RCV001113538RCV001188038RCV003530175 |
|
NM_000059.4(BRCA2):c.4940C>A (p.Thr1647Lys)
|
SNV Germline |
Chr13:32339295 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783713 |
rs_1593903891 |
4 SubmittersRCV001174613RCV001319187RCV003158429 |
|
NM_000059.4(BRCA2):c.6627A>G (p.Ile2209Met)
|
SNV Germline |
Chr13:32340982 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790251 |
rs_147275663 |
3 SubmittersRCV001174603RCV002365831 |
|
NM_000059.4(BRCA2):c.8611G>T (p.Glu2871Ter)
|
SNV Germline |
Chr13:32371079 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387752927 |
rs_587782860 |
1 SubmittersRCV001174721 |
|
NM_000059.4(BRCA2):c.147A>C (p.Glu49Asp)
|
SNV Germline |
Chr13:32319156 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940326 |
rs_779648876 |
3 SubmittersRCV001216808RCV001179125 |
|
NM_000059.4(BRCA2):c.443G>A (p.Cys148Tyr)
|
SNV Germline |
Chr13:32326118 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Ovarian cancer |
Criteria Provided Conflicting Classifications |
CA387757064 |
rs_1204909245 |
5 SubmittersRCV001188487RCV002295334RCV002282474RCV003153938 |
|
NM_000059.4(BRCA2):c.838A>C (p.Lys280Gln)
|
SNV Germline |
Chr13:32332316 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760484 |
rs_80359085 |
3 SubmittersRCV001188159 |
|
NM_000059.4(BRCA2):c.853A>G (p.Lys285Glu)
|
SNV Germline |
Chr13:32332331 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760537 |
rs_2072398689 |
2 SubmittersRCV001178708 |
|
NM_000059.4(BRCA2):c.898G>T (p.Val300Leu)
|
SNV Germline |
Chr13:32332376 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760674 |
rs_878853616 |
5 SubmittersRCV001177176RCV005093779 |
|
NM_000059.4(BRCA2):c.921T>A (p.Ser307Arg)
|
SNV Germline |
Chr13:32332399 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387760734 |
rs_1555281636 |
5 SubmittersRCV001183886RCV002560849RCV004777987 |
|
NM_000059.4(BRCA2):c.1000C>T (p.His334Tyr)
|
SNV Germline |
Chr13:32332478 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761048 |
rs_1593891725 |
4 SubmittersRCV001181496RCV001876028 |
|
NM_000059.4(BRCA2):c.1039C>T (p.Gln347Ter)
|
SNV Germline |
Chr13:32332517 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387761225 |
rs_794726967 |
4 SubmittersRCV001188249RCV002560923RCV004822317 |
|
NM_000059.4(BRCA2):c.1045A>G (p.Lys349Glu)
|
SNV Germline |
Chr13:32332523 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387761251 |
rs_2072403180 |
5 SubmittersRCV001185594RCV001876172RCV002249768 |
|
NM_000059.4(BRCA2):c.1051A>T (p.Lys351Ter)
|
SNV Germline |
Chr13:32332529 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387761282 |
rs_1003779807 |
2 SubmittersRCV001175657 |
|
NM_000059.4(BRCA2):c.1069G>A (p.Glu357Lys)
|
SNV Germline |
Chr13:32332547 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761381 |
rs_2072403764 |
4 SubmittersRCV001187265RCV005093947 |
|
NM_000059.4(BRCA2):c.1148T>G (p.Ile383Ser)
|
SNV Germline |
Chr13:32332626 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761854 |
rs_2072405281 |
2 SubmittersRCV001187810 |
|
NM_000059.4(BRCA2):c.1160T>G (p.Val387Gly)
|
SNV Germline |
Chr13:32332638 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247496650 |
rs_373945846 |
4 SubmittersRCV001186981RCV001876190 |
|
NM_000059.4(BRCA2):c.1250C>A (p.Ser417Tyr)
|
SNV Germline |
Chr13:32332728 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762277 |
rs_1335782281 |
2 SubmittersRCV001185342 |
|
NM_000059.4(BRCA2):c.1258G>C (p.Asp420His)
|
SNV Germline |
Chr13:32332736 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762309 |
rs_2072407813 |
3 SubmittersRCV001191987RCV003645215 |
|
NM_000059.4(BRCA2):c.1279G>A (p.Asp427Asn)
|
SNV Germline |
Chr13:32332757 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762420 |
rs_147797288 |
2 SubmittersRCV001183191 |
|
NM_000059.4(BRCA2):c.1309A>G (p.Lys437Glu)
|
SNV Germline |
Chr13:32332787 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762597 |
rs_2072409220 |
3 SubmittersRCV001185419RCV001862911 |
|
NM_000059.4(BRCA2):c.1364C>G (p.Ser455Ter)
|
SNV Germline |
Chr13:32332842 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast carcinoma Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387762873 |
rs_2072410817 |
6 SubmittersRCV001176139RCV001554305RCV003493806RCV002268433RCV005093763 |
|
NM_000059.4(BRCA2):c.1424A>G (p.Glu475Gly)
|
SNV Germline |
Chr13:32332902 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387764239 |
rs_1213277350 |
5 SubmittersRCV001326348RCV001177170RCV001773419 |
|
NM_000059.4(BRCA2):c.1429C>T (p.His477Tyr)
|
SNV Germline |
Chr13:32332907 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764258 |
rs_2072412671 |
2 SubmittersRCV001186205 |
|
NM_000059.4(BRCA2):c.1466C>T (p.Ser489Phe)
|
SNV Germline |
Chr13:32332944 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764384 |
rs_587782535 |
6 SubmittersRCV001180735RCV003478711RCV002560804 |
|
NM_000059.4(BRCA2):c.1497G>C (p.Gln499His)
|
SNV Germline |
Chr13:32332975 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764472 |
rs_2072414803 |
3 SubmittersRCV001182846RCV001876075 |
|
NM_000059.4(BRCA2):c.1548C>G (p.Phe516Leu)
|
SNV Germline |
Chr13:32333026 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764653 |
rs_2072416104 |
4 SubmittersRCV001190788RCV001315126 |
|
NM_000059.4(BRCA2):c.1674T>G (p.Ile558Met)
|
SNV Germline |
Chr13:32333152 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387765102 |
rs_2072419497 |
4 SubmittersRCV001183618RCV001876107 |
|
NM_000059.4(BRCA2):c.1689G>T (p.Trp563Cys)
|
SNV Germline |
Chr13:32333167 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765185 |
rs_80358456 |
4 SubmittersRCV001875859RCV001177806 |
|
NM_000059.4(BRCA2):c.1766A>G (p.Lys589Arg)
|
SNV Germline |
Chr13:32333244 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765612 |
rs_2072421535 |
3 SubmittersRCV001175850 |
|
NM_000059.4(BRCA2):c.1850C>T (p.Ser617Leu)
|
SNV Germline |
Chr13:32333328 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766377 |
rs_397507278 |
2 SubmittersRCV001182200 |
|
NM_000059.4(BRCA2):c.1867A>C (p.Asn623His)
|
SNV Germline |
Chr13:32333345 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766526 |
rs_1060502388 |
2 SubmittersRCV001192309 |
|
NM_000059.4(BRCA2):c.1955C>G (p.Ser652Cys)
|
SNV Germline |
Chr13:32336310 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387768452 |
rs_1593895864 |
5 SubmittersRCV001190989RCV001315197RCV004528407 |
|
NM_000059.4(BRCA2):c.1981A>G (p.Ser661Gly)
|
SNV Germline |
Chr13:32336336 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768597 |
rs_2072448315 |
2 SubmittersRCV001186538 |
|
NM_000059.4(BRCA2):c.2035A>C (p.Asn679His)
|
SNV Germline |
Chr13:32336390 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387768899 |
rs_786202617 |
3 SubmittersRCV001181709RCV005359904 |
|
NM_000059.4(BRCA2):c.2037T>A (p.Asn679Lys)
|
SNV Germline |
Chr13:32336392 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768912 |
rs_1406955615 |
4 SubmittersRCV001181747RCV003530185 |
|
NM_000059.4(BRCA2):c.2059G>A (p.Asp687Asn)
|
SNV Germline |
Chr13:32336414 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387769008 |
rs_2072449688 |
3 SubmittersRCV001184600 |
|
NM_000059.4(BRCA2):c.2119G>A (p.Asp707Asn)
|
SNV Germline |
Chr13:32336474 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940583 |
rs_80358487 |
5 SubmittersRCV001176133RCV001290689RCV004000325 |
|
NM_000059.4(BRCA2):c.2129C>T (p.Ser710Leu)
|
SNV Germline |
Chr13:32336484 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770072 |
rs_886040405 |
5 SubmittersRCV001183963RCV004998687RCV002560851 |
|
NM_000059.4(BRCA2):c.2132G>A (p.Cys711Tyr)
|
SNV Germline |
Chr13:32336487 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770082 |
rs_2072451032 |
2 SubmittersRCV001192303 |
|
NM_000059.4(BRCA2):c.2194G>C (p.Glu732Gln)
|
SNV Germline |
Chr13:32336549 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770462 |
rs_1244303575 |
5 SubmittersRCV001187741RCV001788423RCV001862962 |
|
NM_000059.4(BRCA2):c.2303C>A (p.Thr768Asn)
|
SNV Germline |
Chr13:32336658 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771330 |
rs_55824746 |
2 SubmittersRCV001185406 |
|
NM_000059.4(BRCA2):c.2329G>T (p.Asp777Tyr)
|
SNV Germline |
Chr13:32336684 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771525 |
rs_2072455387 |
2 SubmittersRCV001184915 |
|
NM_000059.4(BRCA2):c.2458G>A (p.Asp820Asn)
|
SNV Germline |
Chr13:32336813 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772313 |
rs_1593896974 |
4 SubmittersRCV001192023RCV001337564 |
|
NM_000059.4(BRCA2):c.2514A>C (p.Lys838Asn)
|
SNV Germline |
Chr13:32336869 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772451 |
rs_2072459198 |
3 SubmittersRCV001183368RCV001876097 |
|
NM_000059.4(BRCA2):c.2617A>C (p.Ile873Leu)
|
SNV Germline |
Chr13:32336972 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773180 |
rs_2072461250 |
3 SubmittersRCV001184945 |
|
NM_000059.4(BRCA2):c.2671G>A (p.Val891Ile)
|
SNV Germline |
Chr13:32337026 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773384 |
rs_756951335 |
4 SubmittersRCV001179902RCV002464406RCV005093820 |
|
NM_000059.4(BRCA2):c.2687A>T (p.Asn896Ile)
|
SNV Germline |
Chr13:32337042 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387773444 |
rs_2072462890 |
3 SubmittersRCV001189864RCV004010394 |
|
NM_000059.4(BRCA2):c.2705C>T (p.Ala902Val)
|
SNV Germline |
Chr13:32337060 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA247502841 |
rs_749258007 |
5 SubmittersRCV001182572RCV001238034RCV003479286 |
|
NM_000059.4(BRCA2):c.2731G>C (p.Glu911Gln)
|
SNV Germline |
Chr13:32337086 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773599 |
rs_2072463630 |
3 SubmittersRCV001182666RCV005093860 |
|
NM_000059.4(BRCA2):c.2750T>C (p.Val917Ala)
|
SNV Germline |
Chr13:32337105 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA16020671 |
rs_2072463944 |
4 SubmittersRCV001188200RCV001297509 |
|
NM_000059.4(BRCA2):c.2786T>G (p.Leu929Ter)
|
SNV Germline |
Chr13:32337141 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387773716 |
rs_2227943 |
1 SubmittersRCV001177106 |
|
NM_000059.4(BRCA2):c.2882A>T (p.Gln961Leu)
|
SNV Germline |
Chr13:32337237 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774080 |
rs_2072467086 |
4 SubmittersRCV002558860RCV001177746 |
|
NM_000059.4(BRCA2):c.2908G>C (p.Asp970His)
|
SNV Germline |
Chr13:32337263 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774183 |
rs_397507295 |
2 SubmittersRCV001176234 |
|
NM_000059.4(BRCA2):c.2909A>G (p.Asp970Gly)
|
SNV Germline |
Chr13:32337264 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774186 |
rs_2072467657 |
2 SubmittersRCV001179507 |
|
NM_000059.4(BRCA2):c.3007C>A (p.His1003Asn)
|
SNV Germline |
Chr13:32337362 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774711 |
rs_878853565 |
4 SubmittersRCV001302722RCV001176261 |
|
NM_000059.4(BRCA2):c.3009C>A (p.His1003Gln)
|
SNV Germline |
Chr13:32337364 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774730 |
rs_2072470391 |
3 SubmittersRCV001189804RCV002298896 |
|
NM_000059.4(BRCA2):c.3014T>C (p.Phe1005Ser)
|
SNV Germline |
Chr13:32337369 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774789 |
rs_2072470533 |
4 SubmittersRCV001183128RCV001876086 |
|
NM_000059.4(BRCA2):c.3056T>G (p.Leu1019Arg)
|
SNV Germline |
Chr13:32337411 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775095 |
rs_1299627822 |
2 SubmittersRCV001177457 |
|
NM_000059.4(BRCA2):c.3119C>A (p.Thr1040Asn)
|
SNV Germline |
Chr13:32337474 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775477 |
rs_587781475 |
2 SubmittersRCV001179461 |
|
NM_000059.4(BRCA2):c.3241T>G (p.Cys1081Gly)
|
SNV Germline |
Chr13:32337596 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775944 |
rs_1555283117 |
3 SubmittersRCV001186182 |
|
NM_000059.4(BRCA2):c.3406A>T (p.Ile1136Leu)
|
SNV Germline |
Chr13:32337761 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776482 |
rs_876658683 |
4 SubmittersRCV001192323RCV001327807 |
|
NM_000059.4(BRCA2):c.3427G>A (p.Glu1143Lys)
|
SNV Germline |
Chr13:32337782 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776546 |
rs_1316176181 |
3 SubmittersRCV001177009 |
|
NM_000059.4(BRCA2):c.3445A>T (p.Met1149Leu)
|
SNV Germline |
Chr13:32337800 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776653 |
rs_80358589 |
2 SubmittersRCV001176646 |
|
NM_000059.4(BRCA2):c.4032T>G (p.Asn1344Lys)
|
SNV Germline |
Chr13:32338387 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779069 |
rs_1555283514 |
2 SubmittersRCV001185103 |
|
NM_000059.4(BRCA2):c.4046T>G (p.Ile1349Ser)
|
SNV Germline |
Chr13:32338401 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387779097 |
rs_80358654 |
4 SubmittersRCV001178524RCV005093799 |
|
NM_000059.4(BRCA2):c.4259A>T (p.Asp1420Val)
|
SNV Germline |
Chr13:32338614 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387780477 |
rs_2072500081 |
5 SubmittersRCV001185375RCV001210739RCV001292803RCV003478721 |
|
NM_000059.4(BRCA2):c.4266G>C (p.Glu1422Asp)
|
SNV Germline |
Chr13:32338621 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387780526 |
rs_2072500238 |
5 SubmittersRCV001187027RCV004803521RCV005093941 |
|
NM_000059.4(BRCA2):c.4388A>G (p.Asn1463Ser)
|
SNV Germline |
Chr13:32338743 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387781080 |
rs_1305070555 |
4 SubmittersRCV001183612RCV001876105RCV004803494 |
|
NM_000059.4(BRCA2):c.4400A>C (p.His1467Pro)
|
SNV Germline |
Chr13:32338755 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781131 |
rs_1555283765 |
3 SubmittersRCV001176268 |
|
NM_000059.4(BRCA2):c.4453A>T (p.Ile1485Leu)
|
SNV Germline |
Chr13:32338808 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781379 |
rs_2072504654 |
2 SubmittersRCV001178681 |
|
NM_000059.4(BRCA2):c.4470A>G (p.Ile1490Met)
|
SNV Germline |
Chr13:32338825 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387781457 |
rs_1593902461 |
5 SubmittersRCV001187153RCV001362914RCV003448372 |
|
NM_000059.4(BRCA2):c.4504C>A (p.Gln1502Lys)
|
SNV Germline |
Chr13:32338859 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781594 |
rs_1060502425 |
2 SubmittersRCV001187772 |
|
NM_000059.4(BRCA2):c.4603G>A (p.Ala1535Thr)
|
SNV Germline |
Chr13:32338958 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781978 |
rs_2072508845 |
3 SubmittersRCV001178027 |
|
NM_000059.4(BRCA2):c.4620C>G (p.Asp1540Glu)
|
SNV Germline |
Chr13:32338975 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387782049 |
rs_1555283875 |
4 SubmittersRCV001189443RCV001876215 |
|
NM_000059.4(BRCA2):c.4637T>G (p.Phe1546Cys)
|
SNV Germline |
Chr13:32338992 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782130 |
rs_397507337 |
2 SubmittersRCV001185413 |
|
NM_000059.4(BRCA2):c.4676T>C (p.Phe1559Ser)
|
SNV Germline |
Chr13:32339031 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782800 |
rs_1060502411 |
2 SubmittersRCV001176479 |
|
NM_000059.4(BRCA2):c.4708A>G (p.Arg1570Gly)
|
SNV Germline |
Chr13:32339063 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387782922 |
rs_2072511183 |
5 SubmittersRCV001176679RCV001324641RCV004006315 |
|
NM_000059.4(BRCA2):c.4723G>T (p.Asp1575Tyr)
|
SNV Germline |
Chr13:32339078 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940807 |
rs_587782013 |
3 SubmittersRCV001184081 |
|
NM_000059.4(BRCA2):c.4782G>A (p.Met1594Ile)
|
SNV Germline |
Chr13:32339137 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783210 |
rs_876658930 |
3 SubmittersRCV001190336RCV003106149 |
|
NM_000059.4(BRCA2):c.4862G>A (p.Cys1621Tyr)
|
SNV Germline |
Chr13:32339217 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783428 |
rs_730881534 |
4 SubmittersRCV001186141RCV001340819 |
|
NM_000059.4(BRCA2):c.4882A>G (p.Lys1628Glu)
|
SNV Germline |
Chr13:32339237 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783494 |
rs_2072514905 |
2 SubmittersRCV001182800 |
|
NM_000059.4(BRCA2):c.4913A>C (p.Lys1638Thr)
|
SNV Germline |
Chr13:32339268 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940824 |
rs_771425987 |
4 SubmittersRCV001184083RCV003645204 |
|
NM_000059.4(BRCA2):c.4913A>G (p.Lys1638Arg)
|
SNV Germline |
Chr13:32339268 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783596 |
rs_771425987 |
2 SubmittersRCV001191278 |
|
NM_000059.4(BRCA2):c.4993G>C (p.Glu1665Gln)
|
SNV Germline |
Chr13:32339348 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783896 |
rs_1485384156 |
2 SubmittersRCV001187476 |
|
NM_000059.4(BRCA2):c.5009C>A (p.Ala1670Asp)
|
SNV Germline |
Chr13:32339364 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783939 |
rs_1566231551 |
2 SubmittersRCV001181673 |
|
NM_000059.4(BRCA2):c.5018C>T (p.Thr1673Ile)
|
SNV Germline |
Chr13:32339373 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247508871 |
rs_376249157 |
4 SubmittersRCV001188183RCV001312551 |
|
NM_000059.4(BRCA2):c.5051C>A (p.Thr1684Asn)
|
SNV Germline |
Chr13:32339406 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784022 |
rs_80358729 |
3 SubmittersRCV001179159 |
|
NM_000059.4(BRCA2):c.5099G>T (p.Gly1700Val)
|
SNV Germline |
Chr13:32339454 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784120 |
rs_2072520161 |
3 SubmittersRCV001190291RCV002560079 |
|
NM_000059.4(BRCA2):c.5105C>T (p.Pro1702Leu)
|
SNV Germline |
Chr13:32339460 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784130 |
rs_1566231729 |
2 SubmittersRCV001187420 |
|
NM_000059.4(BRCA2):c.5116A>G (p.Asn1706Asp)
|
SNV Germline |
Chr13:32339471 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784148 |
rs_2072520671 |
2 SubmittersRCV001178712 |
|
NM_000059.4(BRCA2):c.5165G>T (p.Ser1722Ile)
|
SNV Germline |
Chr13:32339520 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940851 |
rs_773707172 |
5 SubmittersRCV001188184RCV001284088RCV001859127 |
|
NM_000059.4(BRCA2):c.5185A>G (p.Lys1729Glu)
|
SNV Germline |
Chr13:32339540 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784563 |
rs_2072522644 |
4 SubmittersRCV001179151RCV001316904 |
|
NM_000059.4(BRCA2):c.5226C>G (p.Asn1742Lys)
|
SNV Germline |
Chr13:32339581 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784650 |
rs_1057522266 |
4 SubmittersRCV001184344RCV003645205 |
|
NM_000059.4(BRCA2):c.5242A>G (p.Ser1748Gly)
|
SNV Germline |
Chr13:32339597 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784685 |
rs_2072524829 |
2 SubmittersRCV001181414 |
|
NM_000059.4(BRCA2):c.5247T>A (p.Tyr1749Ter)
|
SNV Germline |
Chr13:32339602 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387784695 |
rs_1566232050 |
1 SubmittersRCV001186136 |
|
NM_000059.4(BRCA2):c.5269T>C (p.Tyr1757His)
|
SNV Germline |
Chr13:32339624 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784740 |
rs_2072525454 |
4 SubmittersRCV001325236RCV001177463 |
|
NM_000059.4(BRCA2):c.5351A>C (p.Asn1784Thr)
|
SNV Germline |
Chr13:32339706 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785045 |
rs_2072527448 |
3 SubmittersRCV001181454RCV003530184 |
|
NM_000059.4(BRCA2):c.5406A>T (p.Gln1802His)
|
SNV Germline |
Chr13:32339761 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785346 |
rs_139302211 |
2 SubmittersRCV001183185 |
|
NM_000059.4(BRCA2):c.5425T>G (p.Cys1809Gly)
|
SNV Germline |
Chr13:32339780 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785444 |
rs_2072529086 |
2 SubmittersRCV001185824 |
|
NM_000059.4(BRCA2):c.5527G>C (p.Ala1843Pro)
|
SNV Germline |
Chr13:32339882 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785901 |
rs_863224594 |
3 SubmittersRCV001189565 |
|
NM_000059.4(BRCA2):c.5595A>G (p.Ile1865Met)
|
SNV Germline |
Chr13:32339950 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786049 |
rs_2072532958 |
2 SubmittersRCV001183829 |
|
NM_000059.4(BRCA2):c.5599A>C (p.Thr1867Pro)
|
SNV Germline |
Chr13:32339954 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786057 |
rs_2072533024 |
2 SubmittersRCV001176166 |
|
NM_000059.4(BRCA2):c.5654G>A (p.Cys1885Tyr)
|
SNV Germline |
Chr13:32340009 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786168 |
rs_876660854 |
4 SubmittersRCV001184925RCV001876160 |
|
NM_000059.4(BRCA2):c.5714A>C (p.His1905Pro)
|
SNV Germline |
Chr13:32340069 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786801 |
rs_80358796 |
3 SubmittersRCV001185600RCV002560873 |
|
NM_000059.4(BRCA2):c.5716A>G (p.Asn1906Asp)
|
SNV Germline |
Chr13:32340071 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786808 |
rs_2072536623 |
3 SubmittersRCV001179761RCV001875949 |
|
NM_000059.4(BRCA2):c.5769C>A (p.Asp1923Glu)
|
SNV Germline |
Chr13:32340124 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787095 |
rs_863224309 |
4 SubmittersRCV001178917RCV002559753 |
|
NM_000059.4(BRCA2):c.5788T>G (p.Leu1930Val)
|
SNV Germline |
Chr13:32340143 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787165 |
rs_2072538460 |
3 SubmittersRCV001180559RCV001221173 |
|
NM_000059.4(BRCA2):c.6005A>C (p.Glu2002Ala)
|
SNV Germline |
Chr13:32340360 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787685 |
rs_2072543965 |
2 SubmittersRCV001183633 |
|
NM_000059.4(BRCA2):c.6035C>A (p.Ser2012Tyr)
|
SNV Germline |
Chr13:32340390 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787807 |
rs_2072544727 |
2 SubmittersRCV001186367 |
|
NM_000059.4(BRCA2):c.6054T>A (p.Ser2018Arg)
|
SNV Germline |
Chr13:32340409 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787893 |
rs_540799830 |
3 SubmittersRCV001191674 |
|
NM_000059.4(BRCA2):c.6092C>A (p.Thr2031Asn)
|
SNV Germline |
Chr13:32340447 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387788065 |
rs_876658761 |
4 SubmittersRCV001183643RCV004998686 |
|
NM_000059.4(BRCA2):c.6152A>C (p.Asn2051Thr)
|
SNV Germline |
Chr13:32340507 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788292 |
rs_398122549 |
3 SubmittersRCV002558838RCV001177016 |
|
NM_000059.4(BRCA2):c.6263C>G (p.Thr2088Ser)
|
SNV Germline |
Chr13:32340618 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788956 |
rs_767567428 |
4 SubmittersRCV001181099RCV001876017 |
|
NM_000059.4(BRCA2):c.6316C>G (p.Leu2106Val)
|
SNV Germline |
Chr13:32340671 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789057 |
rs_876660892 |
4 SubmittersRCV001182388RCV003645200 |
|
NM_000059.4(BRCA2):c.6340C>G (p.Pro2114Ala)
|
SNV Germline |
Chr13:32340695 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789103 |
rs_2072552879 |
3 SubmittersRCV001189298 |
|
NM_000059.4(BRCA2):c.6350G>C (p.Cys2117Ser)
|
SNV Germline |
Chr13:32340705 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789125 |
rs_2072553110 |
3 SubmittersRCV001189018RCV003645209 |
|
NM_000059.4(BRCA2):c.6374C>G (p.Thr2125Ser)
|
SNV Germline |
Chr13:32340729 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789179 |
rs_776937022 |
4 SubmittersRCV001180021RCV001875969 |
|
NM_000059.4(BRCA2):c.6400A>C (p.Asn2134His)
|
SNV Germline |
Chr13:32340755 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387789233 |
rs_1434431480 |
4 SubmittersRCV001185078RCV001207107RCV002285452 |
|
NM_000059.4(BRCA2):c.6419G>A (p.Gly2140Asp)
|
SNV Germline |
Chr13:32340774 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789274 |
rs_876659898 |
2 SubmittersRCV001177456 |
|
NM_000059.4(BRCA2):c.6504A>G (p.Gly2168=)
|
SNV Germline |
Chr13:32340859 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483439078 |
rs_755877503 |
4 SubmittersRCV001189797RCV001447197RCV004794501 |
|
NM_000059.4(BRCA2):c.6508A>G (p.Lys2170Glu)
|
SNV Germline |
Chr13:32340863 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789569 |
rs_2072557860 |
2 SubmittersRCV001178223 |
|
NM_000059.4(BRCA2):c.6529A>T (p.Ile2177Phe)
|
SNV Germline |
Chr13:32340884 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387789654 |
rs_1593908997 |
3 SubmittersRCV001178302RCV005232148 |
|
NM_000059.4(BRCA2):c.6610C>G (p.Pro2204Ala)
|
SNV Germline |
Chr13:32340965 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790147 |
rs_2072560609 |
3 SubmittersRCV001181648 |
|
NM_000059.4(BRCA2):c.6722C>G (p.Thr2241Arg)
|
SNV Germline |
Chr13:32341077 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387791040 |
rs_276174877 |
4 SubmittersRCV001182448RCV002559802 |
|
NM_000059.4(BRCA2):c.7015A>G (p.Lys2339Glu)
|
SNV Germline |
Chr13:32354868 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387794087 |
rs_2072676209 |
4 SubmittersRCV001175820RCV001368401RCV002249756 |
|
NM_000059.4(BRCA2):c.7740G>T (p.Gln2580His)
|
SNV Germline |
Chr13:32357864 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387745623 |
rs_2072710234 |
3 SubmittersRCV001182203RCV001819882 |
|
NM_000059.4(BRCA2):c.7868A>T (p.His2623Leu)
|
SNV Germline |
Chr13:32362585 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA387747085 |
rs_80359012 |
4 SubmittersRCV001183338RCV001876095RCV003150408 |
|
NM_000059.4(BRCA2):c.7895C>T (p.Ala2632Val)
|
SNV Germline |
Chr13:32362612 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387747137 |
rs_765839296 |
3 SubmittersRCV001183821RCV001201632 |
|
NM_000059.4(BRCA2):c.8129G>A (p.Ser2710Asn)
|
SNV Germline |
Chr13:32363331 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749417 |
rs_2072756770 |
5 SubmittersRCV001190000RCV004570395RCV004010401RCV005093996 |
|
NM_000059.4(BRCA2):c.8506T>C (p.Ser2836Pro)
|
SNV Germline |
Chr13:32370974 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387752692 |
rs_2072828445 |
2 SubmittersRCV001180418 |
|
NM_000059.4(BRCA2):c.8629G>A (p.Glu2877Lys)
|
SNV Germline |
Chr13:32371097 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387753012 |
rs_80359121 |
2 SubmittersRCV001177254 |
|
NM_000059.4(BRCA2):c.8660C>G (p.Ser2887Ter)
|
SNV Germline |
Chr13:32376697 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387754718 |
rs_2072874696 |
1 SubmittersRCV001178649 |
|
NM_000059.4(BRCA2):c.8725A>T (p.Lys2909Ter)
|
SNV Germline |
Chr13:32376762 |
Pathogenic |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387754972 |
rs_2072875960 |
3 SubmittersRCV001191822RCV002249774RCV003645214 |
|
NM_000059.4(BRCA2):c.9349C>T (p.His3117Tyr)
|
SNV Germline |
Chr13:32394781 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387761080 |
rs_2073022451 |
5 SubmittersRCV001176712RCV003462646RCV003530177RCV004006318 |
|
NM_000059.4(BRCA2):c.880G>A (p.Glu294Lys)
|
SNV Germline |
Chr13:32332358 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387760638 |
rs_397508009 |
2 SubmittersRCV003158432RCV001175462 |
|
NM_000059.4(BRCA2):c.6937+5A>G
|
SNV Germline |
Chr13:32344658 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA1139663148 |
rs_397507379 |
4 SubmittersRCV001179754RCV002558922RCV005394785 |
|
NM_000059.4(BRCA2):c.8755-3C>G
|
SNV Germline |
Chr13:32379314 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA1139663187 |
rs_2072896768 |
3 SubmittersRCV001191762RCV005621082 |
|
NM_000059.4(BRCA2):c.8754+1G>C
|
SNV Germline |
Chr13:32376792 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387755108 |
rs_397508006 |
3 SubmittersRCV001182890RCV001243882RCV005359908 |
|
NM_000059.4(BRCA2):c.860T>C (p.Met287Thr)
|
SNV Germline |
Chr13:32332338 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760564 |
rs_2072398884 |
5 SubmittersRCV001193359RCV001338980RCV001284451RCV003158441 |
|
NM_000059.4(BRCA2):c.1553C>G (p.Ala518Gly)
|
SNV Germline |
Chr13:32333031 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764672 |
rs_2072416288 |
4 SubmittersRCV001192643RCV001863052RCV003158439 |
|
NM_000059.4(BRCA2):c.2600C>G (p.Thr867Ser)
|
SNV Germline |
Chr13:32336955 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772629 |
rs_2072460919 |
2 SubmittersRCV001193924RCV003158445 |
|
NM_000059.4(BRCA2):c.3322A>C (p.Lys1108Gln)
|
SNV Germline |
Chr13:32337677 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776241 |
rs_1555283169 |
2 SubmittersRCV001192607RCV003158438 |
|
NM_000059.4(BRCA2):c.4622A>G (p.Lys1541Arg)
|
SNV Germline |
Chr13:32338977 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940799 |
rs_747899091 |
3 SubmittersRCV001193170RCV003158440RCV003530187 |
|
NM_000059.4(BRCA2):c.5003C>T (p.Ala1668Val)
|
SNV Germline |
Chr13:32339358 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783929 |
rs_80358724 |
2 SubmittersRCV001193421RCV003158442 |
|
NM_000059.4(BRCA2):c.5279C>A (p.Ser1760Ter)
|
SNV Germline |
Chr13:32339634 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Gastric cancer |
Criteria Provided Single Submitter |
CA387784762 |
rs_80358751 |
2 SubmittersRCV001193324RCV003163487 |
|
NM_000059.4(BRCA2):c.5458T>G (p.Cys1820Gly)
|
SNV Germline |
Chr13:32339813 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785628 |
rs_1566232493 |
3 SubmittersRCV001192533RCV003158435 |
|
NM_000059.4(BRCA2):c.6416A>C (p.Glu2139Ala)
|
SNV Germline |
Chr13:32340771 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789268 |
rs_751071709 |
2 SubmittersRCV001192449RCV003158433 |
|
NM_000059.4(BRCA2):c.6611C>A (p.Pro2204His)
|
SNV Germline |
Chr13:32340966 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387790156 |
rs_1555284771 |
7 SubmittersRCV001192647RCV001294632RCV001806037RCV003444781RCV004803557 |
|
NM_000059.4(BRCA2):c.517-2A>T
|
SNV Germline |
Chr13:32326497 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387757763 |
rs_81002858 |
1 SubmittersRCV001193889 |
|
NM_000059.4(BRCA2):c.7436-1G>T
|
SNV Germline |
Chr13:32356427 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387742947 |
rs_886040939 |
2 SubmittersRCV001193423 |
|
NM_000059.4(BRCA2):c.2345T>G (p.Leu782Arg)
|
SNV Germline |
Chr13:32336700 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771613 |
rs_876661019 |
2 SubmittersRCV001201178RCV003158447 |
|
NM_000059.4(BRCA2):c.4727T>C (p.Leu1576Pro)
|
SNV Germline |
Chr13:32339082 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783001 |
rs_2072511723 |
2 SubmittersRCV001201313RCV003158449 |
|
NM_000059.4(BRCA2):c.23G>A (p.Arg8Lys)
|
SNV Germline |
Chr13:32316483 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387752963 |
rs_2072261141 |
2 SubmittersRCV001218282RCV005306324 |
|
NM_000059.4(BRCA2):c.299A>C (p.Lys100Thr)
|
SNV Germline |
Chr13:32319308 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387754667 |
rs_2072290145 |
3 SubmittersRCV003163710RCV001222027 |
|
NM_000059.4(BRCA2):c.763A>C (p.Asn255His)
|
SNV Germline |
Chr13:32331000 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387760138 |
rs_2072386794 |
3 SubmittersRCV005306326RCV001219356RCV003462746 |
|
NM_000059.4(BRCA2):c.844C>T (p.His282Tyr)
|
SNV Germline |
Chr13:32332322 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940469 |
rs_768605944 |
2 SubmittersRCV003158519RCV001218501 |
|
NM_000059.4(BRCA2):c.952A>G (p.Lys318Glu)
|
SNV Germline |
Chr13:32332430 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760853 |
rs_397508060 |
2 SubmittersRCV001217298RCV003158514 |
|
NM_000059.4(BRCA2):c.1048G>A (p.Glu350Lys)
|
SNV Germline |
Chr13:32332526 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761263 |
rs_2072403231 |
2 SubmittersRCV001215803RCV003158506 |
|
NM_000059.4(BRCA2):c.1363T>C (p.Ser455Pro)
|
SNV Germline |
Chr13:32332841 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762858 |
rs_747592488 |
2 SubmittersRCV001222883RCV003158539 |
|
NM_000059.4(BRCA2):c.1366G>T (p.Glu456Ter)
|
SNV Germline |
Chr13:32332844 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Multiple Submitters No Conflicts |
CA387762884 |
rs_778142232 |
3 SubmittersRCV001223222RCV003346387RCV005012633 |
|
NM_000059.4(BRCA2):c.1497G>A (p.Gln499=)
|
SNV Germline |
Chr13:32332975 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483436721 |
rs_2072414803 |
3 SubmittersRCV001224830RCV004032520 |
|
NM_000059.4(BRCA2):c.1729G>A (p.Ala577Thr)
|
SNV Germline |
Chr13:32333207 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387765377 |
rs_2072420568 |
4 SubmittersRCV001218722RCV002402656RCV004010721 |
|
NM_000059.4(BRCA2):c.1777G>A (p.Ala593Thr)
|
SNV Germline |
Chr13:32333255 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765674 |
rs_431825286 |
2 SubmittersRCV001215366RCV003158502 |
|
NM_000059.4(BRCA2):c.1816C>A (p.Pro606Thr)
|
SNV Germline |
Chr13:32333294 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940543 |
rs_765924757 |
3 SubmittersRCV001218869RCV005232185RCV003158521 |
|
NM_000059.4(BRCA2):c.2114A>G (p.Glu705Gly)
|
SNV Germline |
Chr13:32336469 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387769992 |
rs_2072450678 |
2 SubmittersRCV001215110RCV003158500 |
|
NM_000059.4(BRCA2):c.2333T>A (p.Val778Asp)
|
SNV Germline |
Chr13:32336688 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771549 |
rs_1064793704 |
2 SubmittersRCV001216233RCV003158509 |
|
NM_000059.4(BRCA2):c.2549A>C (p.Gln850Pro)
|
SNV Germline |
Chr13:32336904 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772518 |
rs_2072459937 |
3 SubmittersRCV002429930RCV001218375 |
|
NM_000059.4(BRCA2):c.2833A>T (p.Lys945Ter)
|
SNV Germline |
Chr13:32337188 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387773851 |
rs_2072466023 |
1 SubmittersRCV001222906 |
|
NM_000059.4(BRCA2):c.2874T>G (p.Ser958Arg)
|
SNV Germline |
Chr13:32337229 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774044 |
rs_1566227393 |
4 SubmittersRCV001220005RCV001806056 |
|
NM_000059.4(BRCA2):c.3184C>G (p.Pro1062Ala)
|
SNV Germline |
Chr13:32337539 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775835 |
rs_1555283083 |
3 SubmittersRCV002322066RCV001220618 |
|
NM_000059.4(BRCA2):c.3420T>A (p.Ser1140Arg)
|
SNV Germline |
Chr13:32337775 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776518 |
rs_118093942 |
3 SubmittersRCV001224098RCV002451525 |
|
NM_000059.4(BRCA2):c.3550G>A (p.Gly1184Ser)
|
SNV Germline |
Chr13:32337905 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777220 |
rs_1593899860 |
3 SubmittersRCV001216434RCV003158511 |
|
NM_000059.4(BRCA2):c.3566A>C (p.Lys1189Thr)
|
SNV Germline |
Chr13:32337921 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777309 |
rs_2072483773 |
3 SubmittersRCV001222635RCV003158535 |
|
NM_000059.4(BRCA2):c.3639A>C (p.Glu1213Asp)
|
SNV Germline |
Chr13:32337994 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777930 |
rs_1303026901 |
2 SubmittersRCV001222628RCV003158534 |
|
NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile)
|
SNV Germline |
Chr13:32338171 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778465 |
rs_1469541725 |
3 SubmittersRCV003158527RCV001535557RCV001220912 |
|
NM_000059.4(BRCA2):c.3971A>C (p.Tyr1324Ser)
|
SNV Germline |
Chr13:32338326 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778933 |
rs_1486461236 |
2 SubmittersRCV001214458RCV003158498 |
|
NM_000059.4(BRCA2):c.4017T>G (p.Ser1339Arg)
|
SNV Germline |
Chr13:32338372 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779033 |
rs_1593901181 |
2 SubmittersRCV001214930RCV003158499 |
|
NM_000059.4(BRCA2):c.4198C>T (p.His1400Tyr)
|
SNV Germline |
Chr13:32338553 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780199 |
rs_2072498694 |
2 SubmittersRCV001224327RCV003158544 |
|
NM_000059.4(BRCA2):c.4285C>G (p.Gln1429Glu)
|
SNV Germline |
Chr13:32338640 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780634 |
rs_80358665 |
2 SubmittersRCV001217397RCV003158516 |
|
NM_000059.4(BRCA2):c.4424T>C (p.Met1475Thr)
|
SNV Germline |
Chr13:32338779 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA387781259 |
rs_2072503948 |
3 SubmittersRCV001224465RCV003158545RCV005005096 |
|
NM_000059.4(BRCA2):c.4457T>G (p.Val1486Gly)
|
SNV Germline |
Chr13:32338812 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781396 |
rs_2072504759 |
4 SubmittersRCV001751411RCV001218272RCV003158518 |
|
NM_000059.4(BRCA2):c.4559C>T (p.Thr1520Ile)
|
SNV Germline |
Chr13:32338914 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940791 |
rs_747993489 |
2 SubmittersRCV001217101RCV003158513 |
|
NM_000059.4(BRCA2):c.4579G>C (p.Ala1527Pro)
|
SNV Germline |
Chr13:32338934 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781894 |
rs_879254071 |
3 SubmittersRCV001215640RCV003158505 |
|
NM_000059.4(BRCA2):c.4682A>G (p.His1561Arg)
|
SNV Germline |
Chr13:32339037 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782824 |
rs_2072510587 |
2 SubmittersRCV001216320RCV003158510 |
|
NM_000059.4(BRCA2):c.4769A>G (p.Lys1590Arg)
|
SNV Germline |
Chr13:32339124 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783160 |
rs_2072512459 |
4 SubmittersRCV001223675RCV002339592 |
|
NM_000059.4(BRCA2):c.5281G>A (p.Gly1761Arg)
|
SNV Germline |
Chr13:32339636 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784764 |
rs_886038122 |
3 SubmittersRCV001216529RCV002348721 |
|
NM_000059.4(BRCA2):c.5352C>A (p.Asn1784Lys)
|
SNV Germline |
Chr13:32339707 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785047 |
rs_1555284187 |
4 SubmittersRCV001222103RCV002249810RCV003158531 |
|
NM_000059.4(BRCA2):c.5507A>G (p.Asn1836Ser)
|
SNV Germline |
Chr13:32339862 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785824 |
rs_80358773 |
2 SubmittersRCV001215253RCV003158501 |
|
NM_000059.4(BRCA2):c.5623A>C (p.Lys1875Gln)
|
SNV Germline |
Chr13:32339978 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786111 |
rs_886040600 |
3 SubmittersRCV001223378RCV002348748 |
|
NM_000059.4(BRCA2):c.5652T>G (p.Ile1884Met)
|
SNV Germline |
Chr13:32340007 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387786164 |
rs_766067138 |
4 SubmittersRCV001215269RCV002348718RCV004010704 |
|
NM_000059.4(BRCA2):c.5816T>A (p.Leu1939Ter)
|
SNV Germline |
Chr13:32340171 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387787266 |
rs_2072539219 |
1 SubmittersRCV001225152 |
|
NM_000059.4(BRCA2):c.5994A>C (p.Gln1998His)
|
SNV Germline |
Chr13:32340349 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787663 |
rs_554663691 |
3 SubmittersRCV002356943RCV001221658 |
|
NM_000059.4(BRCA2):c.6014A>C (p.Asp2005Ala)
|
SNV Germline |
Chr13:32340369 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787717 |
rs_876658259 |
2 SubmittersRCV001214445RCV003158497 |
|
NM_000059.4(BRCA2):c.6014A>T (p.Asp2005Val)
|
SNV Germline |
Chr13:32340369 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787720 |
rs_876658259 |
2 SubmittersRCV001217300RCV003158515 |
|
NM_000059.4(BRCA2):c.6070C>G (p.Gln2024Glu)
|
SNV Germline |
Chr13:32340425 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787966 |
rs_80358844 |
2 SubmittersRCV001219166RCV003158524 |
|
NM_000059.4(BRCA2):c.6141T>A (p.Tyr2047Ter)
|
SNV Germline |
Chr13:32340496 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387788245 |
rs_1466688245 |
1 SubmittersRCV001215941 |
|
NM_000059.4(BRCA2):c.6179C>T (p.Thr2060Ile)
|
SNV Germline |
Chr13:32340534 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788391 |
rs_2072548301 |
2 SubmittersRCV001216567RCV003158512 |
|
NM_000059.4(BRCA2):c.6236T>C (p.Val2079Ala)
|
SNV Germline |
Chr13:32340591 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788900 |
rs_864622757 |
3 SubmittersRCV001219811RCV002365994 |
|
NM_000059.4(BRCA2):c.6364A>G (p.Met2122Val)
|
SNV Germline |
Chr13:32340719 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789153 |
rs_2072553442 |
3 SubmittersRCV001218990RCV003158523 |
|
NM_000059.4(BRCA2):c.6374C>A (p.Thr2125Asn)
|
SNV Germline |
Chr13:32340729 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940946 |
rs_776937022 |
4 SubmittersRCV001751413RCV001218388RCV002365988 |
|
NM_000059.4(BRCA2):c.6401A>G (p.Asn2134Ser)
|
SNV Germline |
Chr13:32340756 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789238 |
rs_2072554340 |
5 SubmittersRCV001222213RCV003490134RCV002365998 |
|
NM_000059.4(BRCA2):c.6457C>T (p.Pro2153Ser)
|
SNV Germline |
Chr13:32340812 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789340 |
rs_2072556359 |
2 SubmittersRCV001223775RCV003158542 |
|
NM_000059.4(BRCA2):c.6726T>A (p.Asp2242Glu)
|
SNV Germline |
Chr13:32341081 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791054 |
rs_2072563704 |
2 SubmittersRCV001224990RCV003158550 |
|
NM_000059.4(BRCA2):c.8236A>G (p.Thr2746Ala)
|
SNV Germline |
Chr13:32363438 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387749882 |
rs_2072759579 |
3 SubmittersRCV002411791RCV001215043RCV001751400 |
|
NM_000059.4(BRCA2):c.991A>G (p.Lys331Glu)
|
SNV Germline |
Chr13:32332469 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761002 |
rs_2072402052 |
2 SubmittersRCV001208883RCV003158479 |
|
NM_000059.4(BRCA2):c.1411G>A (p.Glu471Lys)
|
SNV Germline |
Chr13:32332889 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387764191 |
rs_80358428 |
4 SubmittersRCV001204054RCV003158458RCV003483786 |
|
NM_000059.4(BRCA2):c.1499G>A (p.Gly500Asp)
|
SNV Germline |
Chr13:32332977 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764482 |
rs_1064795525 |
3 SubmittersRCV001213280RCV002393487 |
|
NM_000059.4(BRCA2):c.1521A>C (p.Arg507Ser)
|
SNV Germline |
Chr13:32332999 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764557 |
rs_2072415404 |
2 SubmittersRCV001210401RCV003158487 |
|
NM_000059.4(BRCA2):c.1525A>G (p.Arg509Gly)
|
SNV Germline |
Chr13:32333003 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764571 |
rs_2072415459 |
2 SubmittersRCV001210274RCV003158486 |
|
NM_000059.4(BRCA2):c.1672A>G (p.Ile558Val)
|
SNV Germline |
Chr13:32333150 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940533 |
rs_759415233 |
3 SubmittersRCV001354726RCV001210478RCV003158488 |
|
NM_000059.4(BRCA2):c.1787A>T (p.Asp596Val)
|
SNV Germline |
Chr13:32333265 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387765738 |
rs_2072422145 |
3 SubmittersRCV001210583RCV003158489RCV004803566 |
|
NM_000059.4(BRCA2):c.1804G>T (p.Gly602Ter)
|
SNV Germline |
Chr13:32333282 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387765889 |
rs_80358466 |
2 SubmittersRCV001212973 |
|
NM_000059.4(BRCA2):c.1895C>T (p.Ala632Val)
|
SNV Germline |
Chr13:32333373 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766787 |
rs_876659192 |
2 SubmittersRCV001208817RCV003158478 |
|
NM_000059.4(BRCA2):c.1921T>G (p.Ser641Ala)
|
SNV Germline |
Chr13:32336276 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768255 |
rs_2072446928 |
2 SubmittersRCV001207935RCV003158476 |
|
NM_000059.4(BRCA2):c.2102T>C (p.Phe701Ser)
|
SNV Germline |
Chr13:32336457 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387769918 |
rs_1045996745 |
2 SubmittersRCV001207811RCV003158475 |
|
NM_000059.4(BRCA2):c.2180C>T (p.Ser727Leu)
|
SNV Germline |
Chr13:32336535 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770367 |
rs_2072451958 |
2 SubmittersRCV001201920RCV003158451 |
|
NM_000059.4(BRCA2):c.2195A>C (p.Glu732Ala)
|
SNV Germline |
Chr13:32336550 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770468 |
rs_1456382766 |
2 SubmittersRCV001204823RCV003158459 |
|
NM_000059.4(BRCA2):c.2204C>G (p.Ala735Gly)
|
SNV Germline |
Chr13:32336559 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770535 |
rs_2072452438 |
2 SubmittersRCV001206637RCV003158468 |
|
NM_000059.4(BRCA2):c.2255A>G (p.Asp752Gly)
|
SNV Germline |
Chr13:32336610 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770932 |
rs_2072453670 |
2 SubmittersRCV001206421RCV003158465 |
|
NM_000059.4(BRCA2):c.2424A>T (p.Glu808Asp)
|
SNV Germline |
Chr13:32336779 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA247502219 |
rs_55646808 |
3 SubmittersRCV001210851RCV003158490RCV004803567 |
|
NM_000059.4(BRCA2):c.2768A>G (p.Lys923Arg)
|
SNV Germline |
Chr13:32337123 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387773678 |
rs_2072464367 |
3 SubmittersRCV001205501RCV003158464RCV005601705 |
|
NM_000059.4(BRCA2):c.2991A>T (p.Leu997Phe)
|
SNV Germline |
Chr13:32337346 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774609 |
rs_2072469915 |
2 SubmittersRCV001207319RCV003158473 |
|
NM_000059.4(BRCA2):c.3347C>T (p.Thr1116Ile)
|
SNV Germline |
Chr13:32337702 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776332 |
rs_2072478227 |
2 SubmittersRCV001210074RCV003158484 |
|
NM_000059.4(BRCA2):c.3434C>G (p.Pro1145Arg)
|
SNV Germline |
Chr13:32337789 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776591 |
rs_431825306 |
3 SubmittersRCV001202110RCV003158453 |
|
NM_000059.4(BRCA2):c.3543A>C (p.Gln1181His)
|
SNV Germline |
Chr13:32337898 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777170 |
rs_2072483286 |
2 SubmittersRCV001202037RCV003158452 |
|
NM_000059.4(BRCA2):c.3610G>A (p.Ala1204Thr)
|
SNV Germline |
Chr13:32337965 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777539 |
rs_1555283309 |
3 SubmittersRCV001206670RCV002451440 |
|
NM_000059.4(BRCA2):c.3797A>G (p.His1266Arg)
|
SNV Germline |
Chr13:32338152 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387778398 |
rs_1555283399 |
6 SubmittersRCV001207278RCV002298904RCV002365936RCV004010661 |
|
NM_000059.4(BRCA2):c.3902C>A (p.Thr1301Asn)
|
SNV Germline |
Chr13:32338257 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778794 |
rs_1455648880 |
2 SubmittersRCV001212872RCV003158494 |
|
NM_000059.4(BRCA2):c.3902C>G (p.Thr1301Ser)
|
SNV Germline |
Chr13:32338257 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Malignant tumor of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778795 |
rs_1455648880 |
3 SubmittersRCV001204935RCV001354573RCV003158461 |
|
NM_000059.4(BRCA2):c.4118T>G (p.Met1373Arg)
|
SNV Germline |
Chr13:32338473 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940750 |
rs_750581150 |
3 SubmittersRCV001202124RCV003158454RCV003493819 |
|
NM_000059.4(BRCA2):c.4325C>T (p.Ser1442Leu)
|
SNV Germline |
Chr13:32338680 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780833 |
rs_80358670 |
3 SubmittersRCV001202653RCV004010622RCV003158455 |
|
NM_000059.4(BRCA2):c.4487C>T (p.Pro1496Leu)
|
SNV Germline |
Chr13:32338842 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781533 |
rs_2072505667 |
3 SubmittersRCV001212743RCV002327493 |
|
NM_000059.4(BRCA2):c.4613C>T (p.Ser1538Phe)
|
SNV Germline |
Chr13:32338968 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition 8 conditions |
Criteria Provided Conflicting Classifications |
CA6940798 |
rs_754643404 |
6 SubmittersRCV001213012RCV002339551RCV004803568RCV005005080 |
|
NM_000059.4(BRCA2):c.4741G>C (p.Glu1581Gln)
|
SNV Germline |
Chr13:32339096 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940809 |
rs_368952892 |
4 SubmittersRCV001212351RCV002327491RCV004761984 |
|
NM_000059.4(BRCA2):c.4945A>G (p.Lys1649Glu)
|
SNV Germline |
Chr13:32339300 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940831 |
rs_763743962 |
3 SubmittersRCV001211056RCV003158491 |
|
NM_000059.4(BRCA2):c.4970A>C (p.Asn1657Thr)
|
SNV Germline |
Chr13:32339325 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783824 |
rs_1060502382 |
2 SubmittersRCV001209940RCV003158483 |
|
NM_000059.4(BRCA2):c.5060T>G (p.Leu1687Arg)
|
SNV Germline |
Chr13:32339415 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784040 |
rs_2072519361 |
2 SubmittersRCV001208945RCV003158480 |
|
NM_000059.4(BRCA2):c.5111G>T (p.Arg1704Ile)
|
SNV Germline |
Chr13:32339466 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387784139 |
rs_2072520513 |
3 SubmittersRCV001206761RCV003158469RCV004010652 |
|
NM_000059.4(BRCA2):c.5852G>A (p.Ser1951Asn)
|
SNV Germline |
Chr13:32340207 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787397 |
rs_2072540017 |
2 SubmittersRCV001204904RCV003158460 |
|
NM_000059.4(BRCA2):c.5971G>A (p.Ala1991Thr)
|
SNV Germline |
Chr13:32340326 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787627 |
rs_2072543048 |
3 SubmittersRCV001206768RCV003158470 |
|
NM_000059.4(BRCA2):c.6069C>G (p.Asp2023Glu)
|
SNV Germline |
Chr13:32340424 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387787962 |
rs_2072545456 |
3 SubmittersRCV001207309RCV003158472RCV004803564 |
|
NM_000059.4(BRCA2):c.6278A>C (p.His2093Pro)
|
SNV Germline |
Chr13:32340633 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788984 |
rs_1218113889 |
3 SubmittersRCV001202763RCV001806041 |
|
NM_000059.4(BRCA2):c.6286C>A (p.Pro2096Thr)
|
SNV Germline |
Chr13:32340641 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789002 |
rs_1309257585 |
2 SubmittersRCV001205243RCV003158463 |
|
NM_000059.4(BRCA2):c.6389T>G (p.Phe2130Cys)
|
SNV Germline |
Chr13:32340744 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789210 |
rs_2072554002 |
5 SubmittersRCV001211650RCV001586053RCV001525351 |
|
NM_000059.4(BRCA2):c.6549A>T (p.Glu2183Asp)
|
SNV Germline |
Chr13:32340904 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789775 |
rs_2072559314 |
4 SubmittersRCV001206498RCV004010648RCV003158466 |
|
NM_000059.4(BRCA2):c.6556T>A (p.Ser2186Thr)
|
SNV Germline |
Chr13:32340911 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA387789823 |
rs_2072559530 |
7 SubmittersRCV001209383RCV002265008RCV002365943RCV004010673RCV005408750 |
|
NM_000059.4(BRCA2):c.7736T>C (p.Ile2579Thr)
|
SNV Germline |
Chr13:32357860 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387745598 |
rs_2072710157 |
2 SubmittersRCV001202010RCV002402572 |
|
NM_000059.4(BRCA2):c.7906T>C (p.Cys2636Arg)
|
SNV Germline |
Chr13:32362623 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387747159 |
rs_2072747182 |
2 SubmittersRCV001210375RCV002418712 |
|
NM_000059.4(BRCA2):c.8777T>G (p.Leu2926Ter)
|
SNV Germline |
Chr13:32379339 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387755837 |
rs_886040791 |
2 SubmittersRCV001210794RCV002375159 |
|
NM_000059.4(BRCA2):c.9678T>A (p.Tyr3226Ter)
|
SNV Germline |
Chr13:32398191 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387765230 |
rs_2073049381 |
3 SubmittersRCV001206017RCV002375140RCV003480990 |
|
NM_000059.4(BRCA2):c.-40+1G>A
|
SNV Germline |
Chr13:32315668 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA1139663040 |
rs_2072249096 |
3 SubmittersRCV001209736RCV003163590RCV005359944 |
|
NM_000059.4(BRCA2):c.1909+4C>A
|
SNV Germline |
Chr13:32333391 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA1139663126 |
rs_768978701 |
4 SubmittersRCV001203826RCV002411747RCV003316831 |
|
NM_000059.4(BRCA2):c.8754+5G>C
|
SNV Germline |
Chr13:32376796 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA1139663185 |
rs_81002813 |
3 SubmittersRCV001209759RCV002375153RCV003478734 |
|
NM_000059.4(BRCA2):c.6938-1G>C
|
SNV Germline |
Chr13:32346826 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387792964 |
rs_886040936 |
2 SubmittersRCV001216246RCV001780136 |
|
NM_000059.4(BRCA2):c.916G>A (p.Asp306Asn)
|
SNV Germline |
Chr13:32332394 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940475 |
rs_781169306 |
3 SubmittersRCV002375224RCV001226613 |
|
NM_000059.4(BRCA2):c.1001A>T (p.His334Leu)
|
SNV Germline |
Chr13:32332479 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761053 |
rs_587782016 |
2 SubmittersRCV001236605RCV003158591 |
|
NM_000059.4(BRCA2):c.1184G>T (p.Trp395Leu)
|
SNV Germline |
Chr13:32332662 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387761999 |
rs_886040347 |
4 SubmittersRCV001236953RCV003158593RCV004004869 |
|
NM_000059.4(BRCA2):c.1291A>G (p.Thr431Ala)
|
SNV Germline |
Chr13:32332769 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762481 |
rs_864622399 |
2 SubmittersRCV001236245RCV003158590 |
|
NM_000059.4(BRCA2):c.1515A>G (p.Ile505Met)
|
SNV Germline |
Chr13:32332993 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764536 |
rs_1049893722 |
3 SubmittersRCV001237936RCV003158594 |
|
NM_000059.4(BRCA2):c.1703C>T (p.Thr568Ile)
|
SNV Germline |
Chr13:32333181 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial colorectal cancer type X |
Criteria Provided Conflicting Classifications |
CA387765254 |
rs_2072420088 |
4 SubmittersRCV001526295RCV001226846RCV005359971 |
|
NM_000059.4(BRCA2):c.1918C>A (p.His640Asn)
|
SNV Germline |
Chr13:32336273 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768239 |
rs_2072446918 |
4 SubmittersRCV001225934RCV003493825RCV002411834 |
|
NM_000059.4(BRCA2):c.2305C>T (p.Leu769Phe)
|
SNV Germline |
Chr13:32336660 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771348 |
rs_2072454785 |
4 SubmittersRCV001237292RCV001800974RCV002447185 |
|
NM_000059.4(BRCA2):c.2315C>G (p.Thr772Ser)
|
SNV Germline |
Chr13:32336670 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771427 |
rs_1064794522 |
2 SubmittersRCV001231940RCV003158579 |
|
NM_000059.4(BRCA2):c.2384C>G (p.Ser795Ter)
|
SNV Germline |
Chr13:32336739 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387771865 |
rs_2072456490 |
1 SubmittersRCV001236416 |
|
NM_000059.4(BRCA2):c.2444T>A (p.Met815Lys)
|
SNV Germline |
Chr13:32336799 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772237 |
rs_1303254121 |
2 SubmittersRCV001229825RCV003158575 |
|
NM_000059.4(BRCA2):c.2696A>G (p.Asn899Ser)
|
SNV Germline |
Chr13:32337051 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773479 |
rs_2072463113 |
2 SubmittersRCV001228884RCV003158569 |
|
NM_000059.4(BRCA2):c.2717C>T (p.Thr906Ile)
|
SNV Germline |
Chr13:32337072 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773560 |
rs_2072463461 |
2 SubmittersRCV001225382RCV003158551 |
|
NM_000059.4(BRCA2):c.2941A>G (p.Lys981Glu)
|
SNV Germline |
Chr13:32337296 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387774314 |
rs_2072468449 |
3 SubmittersRCV001229305RCV003158572RCV003234792 |
|
NM_000059.4(BRCA2):c.3050T>C (p.Ile1017Thr)
|
SNV Germline |
Chr13:32337405 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387775034 |
rs_2072470949 |
3 SubmittersRCV001228374RCV003158564RCV004803585 |
|
NM_000059.4(BRCA2):c.3191C>T (p.Ser1064Leu)
|
SNV Germline |
Chr13:32337546 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775846 |
rs_864622609 |
2 SubmittersRCV001226248RCV003158553 |
|
NM_000059.4(BRCA2):c.3236C>T (p.Ser1079Phe)
|
SNV Germline |
Chr13:32337591 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775935 |
rs_2072475650 |
3 SubmittersRCV001233454RCV003158582 |
|
NM_000059.4(BRCA2):c.3412C>A (p.Gln1138Lys)
|
SNV Germline |
Chr13:32337767 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776492 |
rs_587782613 |
2 SubmittersRCV001233514RCV003158583 |
|
NM_000059.4(BRCA2):c.3424T>C (p.Phe1142Leu)
|
SNV Germline |
Chr13:32337779 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776533 |
rs_2072480095 |
4 SubmittersRCV003158558RCV004783929RCV001227125 |
|
NM_000059.4(BRCA2):c.3634A>G (p.Asn1212Asp)
|
SNV Germline |
Chr13:32337989 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777918 |
rs_2072485059 |
3 SubmittersRCV001227865RCV001586072RCV003158562 |
|
NM_000059.4(BRCA2):c.3671G>A (p.Gly1224Asp)
|
SNV Germline |
Chr13:32338026 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA387777993 |
rs_587782670 |
5 SubmittersRCV001231228RCV003158577RCV001800972RCV005432622 |
|
NM_000059.4(BRCA2):c.3822G>C (p.Lys1274Asn)
|
SNV Germline |
Chr13:32338177 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778491 |
rs_1555283410 |
3 SubmittersRCV001227600RCV003158560 |
|
NM_000059.4(BRCA2):c.3907G>A (p.Gly1303Ser)
|
SNV Germline |
Chr13:32338262 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778799 |
rs_2072491499 |
2 SubmittersRCV001228490RCV003158565 |
|
NM_000059.4(BRCA2):c.4197T>A (p.Cys1399Ter)
|
SNV Germline |
Chr13:32338552 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387780191 |
rs_1339703491 |
3 SubmittersRCV001226711RCV002327540RCV004004815 |
|
NM_000059.4(BRCA2):c.4234A>C (p.Thr1412Pro)
|
SNV Germline |
Chr13:32338589 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780361 |
rs_2072499447 |
2 SubmittersRCV001227720RCV003158561 |
|
NM_000059.4(BRCA2):c.4297G>T (p.Gly1433Trp)
|
SNV Germline |
Chr13:32338652 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247507454 |
rs_1036091086 |
2 SubmittersRCV001233828RCV003158585 |
|
NM_000059.4(BRCA2):c.4311T>G (p.Ser1437Arg)
|
SNV Germline |
Chr13:32338666 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780787 |
rs_1228813196 |
2 SubmittersRCV001228632RCV003158566 |
|
NM_000059.4(BRCA2):c.4321G>A (p.Glu1441Lys)
|
SNV Germline |
Chr13:32338676 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780820 |
rs_876659758 |
4 SubmittersRCV001236874RCV002327569 |
|
NM_000059.4(BRCA2):c.4803T>G (p.Asp1601Glu)
|
SNV Germline |
Chr13:32339158 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783262 |
rs_772234613 |
3 SubmittersRCV001232096RCV003158580 |
|
NM_000059.4(BRCA2):c.5039C>T (p.Ser1680Phe)
|
SNV Germline |
Chr13:32339394 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783997 |
rs_1555284041 |
3 SubmittersRCV001227363RCV003158559 |
|
NM_000059.4(BRCA2):c.5317G>T (p.Glu1773Ter)
|
SNV Germline |
Chr13:32339672 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387784880 |
rs_1566232201 |
2 SubmittersRCV001238188RCV002348807 |
|
NM_000059.4(BRCA2):c.5530T>A (p.Phe1844Ile)
|
SNV Germline |
Chr13:32339885 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785912 |
rs_2072531391 |
2 SubmittersRCV001228995RCV003158571 |
|
NM_000059.4(BRCA2):c.5791C>G (p.Gln1931Glu)
|
SNV Germline |
Chr13:32340146 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387787175 |
rs_80358807 |
4 SubmittersRCV001228751RCV003158568RCV005432621 |
|
NM_000059.4(BRCA2):c.5843G>A (p.Cys1948Tyr)
|
SNV Germline |
Chr13:32340198 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940906 |
rs_757148516 |
3 SubmittersRCV001238093RCV003158595 |
|
NM_000059.4(BRCA2):c.5971G>C (p.Ala1991Pro)
|
SNV Germline |
Chr13:32340326 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787626 |
rs_2072543048 |
3 SubmittersRCV001226312RCV004998747RCV003158554 |
|
NM_000059.4(BRCA2):c.6265G>A (p.Glu2089Lys)
|
SNV Germline |
Chr13:32340620 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788957 |
rs_2072550502 |
2 SubmittersRCV001232437RCV003158581 |
|
NM_000059.4(BRCA2):c.6323G>C (p.Arg2108Pro)
|
SNV Germline |
Chr13:32340678 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789068 |
rs_35029074 |
4 SubmittersRCV001231884RCV003158578 |
|
NM_000059.4(BRCA2):c.6451G>A (p.Val2151Ile)
|
SNV Germline |
Chr13:32340806 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789331 |
rs_1164384033 |
2 SubmittersRCV001234566RCV003158586 |
|
NM_000059.4(BRCA2):c.6470A>G (p.Gln2157Arg)
|
SNV Germline |
Chr13:32340825 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789394 |
rs_1456778960 |
4 SubmittersRCV001237654RCV001751468RCV002366048 |
|
NM_000059.4(BRCA2):c.6483C>A (p.Asp2161Glu)
|
SNV Germline |
Chr13:32340838 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789453 |
rs_2072557146 |
3 SubmittersRCV001231010RCV002356992 |
|
NM_000059.4(BRCA2):c.7690A>C (p.Thr2564Pro)
|
SNV Germline |
Chr13:32357814 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA387745185 |
rs_2072709406 |
4 SubmittersRCV001226925RCV004697080RCV005232192 |
|
NM_000059.4(BRCA2):c.7900A>G (p.Met2634Val)
|
SNV Germline |
Chr13:32362617 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387747144 |
rs_1207483065 |
3 SubmittersRCV001231392RCV002250734RCV002418793 |
|
NM_000059.4(BRCA2):c.9188C>G (p.Pro3063Arg)
|
SNV Germline |
Chr13:32380077 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387758165 |
rs_2072913701 |
2 SubmittersRCV001236104RCV002375249 |
|
NM_000059.4(BRCA2):c.895G>A (p.Val299Ile)
|
SNV Germline |
Chr13:32332373 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760667 |
rs_2072399652 |
3 SubmittersRCV001246440RCV003158621 |
|
NM_000059.4(BRCA2):c.994A>G (p.Ile332Val)
|
SNV Germline |
Chr13:32332472 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761013 |
rs_2072402170 |
2 SubmittersRCV001246971RCV003158623 |
|
NM_000059.4(BRCA2):c.1604C>G (p.Ala535Gly)
|
SNV Germline |
Chr13:32333082 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764847 |
rs_1593893344 |
2 SubmittersRCV001241703RCV003158607 |
|
NM_000059.4(BRCA2):c.2260C>G (p.Gln754Glu)
|
SNV Germline |
Chr13:32336615 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387770998 |
rs_80358496 |
4 SubmittersRCV001241490RCV002447201RCV005601724 |
|
NM_000059.4(BRCA2):c.2701C>A (p.Leu901Ile)
|
SNV Germline |
Chr13:32337056 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773498 |
rs_2072463186 |
2 SubmittersRCV001241443RCV003158605 |
|
NM_000059.4(BRCA2):c.2855C>G (p.Ala952Gly)
|
SNV Germline |
Chr13:32337210 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773948 |
rs_761934778 |
2 SubmittersRCV001246173RCV003158618 |
|
NM_000059.4(BRCA2):c.2966A>T (p.Tyr989Phe)
|
SNV Germline |
Chr13:32337321 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774500 |
rs_2072469321 |
2 SubmittersRCV001241521RCV003158606 |
|
NM_000059.4(BRCA2):c.3241T>A (p.Cys1081Ser)
|
SNV Germline |
Chr13:32337596 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775945 |
rs_1555283117 |
3 SubmittersRCV001247752RCV003158627 |
|
NM_000059.4(BRCA2):c.3491T>C (p.Leu1164Pro)
|
SNV Germline |
Chr13:32337846 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776909 |
rs_746847103 |
2 SubmittersRCV001243264RCV003158610 |
|
NM_000059.4(BRCA2):c.3514T>A (p.Ser1172Thr)
|
SNV Germline |
Chr13:32337869 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387777014 |
rs_1593899773 |
3 SubmittersRCV001248169RCV003158629RCV004004913 |
|
NM_000059.4(BRCA2):c.3599G>C (p.Cys1200Ser)
|
SNV Germline |
Chr13:32337954 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777491 |
rs_1555283305 |
3 SubmittersRCV001247241RCV002451609 |
|
NM_000059.4(BRCA2):c.3706A>C (p.Lys1236Gln)
|
SNV Germline |
Chr13:32338061 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778056 |
rs_1555283367 |
2 SubmittersRCV001244473RCV003158613 |
|
NM_000059.4(BRCA2):c.3861T>A (p.Asn1287Lys)
|
SNV Germline |
Chr13:32338216 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778663 |
rs_2072490377 |
2 SubmittersRCV001241724RCV003158608 |
|
NM_000059.4(BRCA2):c.3911C>T (p.Thr1304Ile)
|
SNV Germline |
Chr13:32338266 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778807 |
rs_1555283472 |
2 SubmittersRCV001241218RCV003158604 |
|
NM_000059.4(BRCA2):c.4274A>T (p.Asp1425Val)
|
SNV Germline |
Chr13:32338629 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780575 |
rs_398122780 |
3 SubmittersRCV001240260RCV002327579 |
|
NM_000059.4(BRCA2):c.4289C>G (p.Thr1430Ser)
|
SNV Germline |
Chr13:32338644 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780656 |
rs_876659247 |
2 SubmittersRCV001242728RCV003158609 |
|
NM_000059.4(BRCA2):c.4461A>C (p.Lys1487Asn)
|
SNV Germline |
Chr13:32338816 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781412 |
rs_786201350 |
2 SubmittersRCV001240751RCV003158601 |
|
NM_000059.4(BRCA2):c.4829T>A (p.Val1610Glu)
|
SNV Germline |
Chr13:32339184 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783316 |
rs_2072513765 |
3 SubmittersRCV001244016RCV001819946RCV003158612 |
|
NM_000059.4(BRCA2):c.5011T>G (p.Phe1671Val)
|
SNV Germline |
Chr13:32339366 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387783944 |
rs_2072518231 |
3 SubmittersRCV001247484RCV003158625RCV004004911 |
|
NM_000059.4(BRCA2):c.5227A>G (p.Ser1743Gly)
|
SNV Germline |
Chr13:32339582 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784652 |
rs_397507348 |
2 SubmittersRCV001239836RCV003158598 |
|
NM_000059.4(BRCA2):c.5407A>G (p.Thr1803Ala)
|
SNV Germline |
Chr13:32339762 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940869 |
rs_769627725 |
3 SubmittersRCV001247305RCV002348843 |
|
NM_000059.4(BRCA2):c.5474C>G (p.Ala1825Gly)
|
SNV Germline |
Chr13:32339829 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA387785694 |
rs_397507352 |
4 SubmittersRCV001246573RCV003158622RCV003493831RCV003493832 |
|
NM_000059.4(BRCA2):c.5705A>G (p.Asp1902Gly)
|
SNV Germline |
Chr13:32340060 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786746 |
rs_2072536350 |
3 SubmittersRCV001245899RCV003158617 |
|
NM_000059.4(BRCA2):c.6235G>C (p.Val2079Leu)
|
SNV Germline |
Chr13:32340590 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788899 |
rs_886037812 |
2 SubmittersRCV001245212RCV003158615 |
|
NM_000059.4(BRCA2):c.6574A>G (p.Met2192Val)
|
SNV Germline |
Chr13:32340929 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247514103 |
rs_926784722 |
4 SubmittersRCV001239788RCV001806075 |
|
NM_000059.4(BRCA2):c.6616A>G (p.Lys2206Glu)
|
SNV Germline |
Chr13:32340971 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790172 |
rs_2072560749 |
2 SubmittersRCV001239985RCV003158600 |
|
NM_000059.4(BRCA2):c.9973T>C (p.Phe3325Leu)
|
SNV Germline |
Chr13:32398486 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387767473 |
rs_2073053849 |
2 SubmittersRCV001239583RCV005520469 |
|
NM_000059.4(BRCA2):c.5678G>T (p.Cys1893Phe)
|
SNV Germline |
Chr13:32340033 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786211 |
rs_2072535635 |
2 SubmittersRCV001251402RCV003158631 |
|
NM_000059.4(BRCA2):c.8735C>T (p.Ala2912Val)
|
SNV Germline |
Chr13:32376772 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387755019 |
rs_2072876151 |
2 SubmittersRCV001251370RCV003294162 |
|
NM_000059.4(BRCA2):c.2044A>C (p.Ile682Leu)
|
SNV Germline |
Chr13:32336399 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768935 |
rs_398122738 |
2 SubmittersRCV001255491RCV003158632 |
|
NM_000059.4(BRCA2):c.4885A>C (p.Thr1629Pro)
|
SNV Germline |
Chr13:32339240 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783505 |
rs_879255455 |
2 SubmittersRCV001258184RCV003158633 |
|
NM_000059.4(BRCA2):c.3628G>C (p.Asp1210His)
|
SNV Germline |
Chr13:32337983 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777601 |
rs_774392592 |
2 SubmittersRCV001267825RCV003158634 |
|
NM_000059.4(BRCA2):c.8188G>A (p.Ala2730Thr)
|
SNV Germline |
Chr13:32363390 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
No Assertion Criteria Provided |
CA387749675 |
rs_80359066 |
1 SubmittersRCV001267889 |
|
NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter)
|
SNV Germline |
Chr13:32379497 |
Pathogenic/Likely pathogenic |
Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387757307 |
rs_2072903033 |
4 SubmittersRCV001268139RCV003462846RCV003770399 |
|
NM_000059.4(BRCA2):c.4193C>T (p.Ala1398Val)
|
SNV Germline |
Chr13:32338548 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387780180 |
rs_2072498593 |
4 SubmittersRCV001269106RCV003158635RCV004004937 |
|
NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter)
|
SNV Germline |
Chr13:32338676 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387780821 |
rs_876659758 |
3 SubmittersRCV001269201RCV001355086RCV003473845 |
|
NM_000059.4(BRCA2):c.778G>T (p.Glu260Ter)
|
SNV Germline |
Chr13:32331015 |
Pathogenic |
Condition: not provided |
Criteria Provided Single Submitter |
CA387760203 |
rs_2072387354 |
1 SubmittersRCV001269733 |
|
NM_000059.4(BRCA2):c.2372C>G (p.Ser791Ter)
|
SNV Germline |
Chr13:32336727 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387771780 |
rs_397507624 |
4 SubmittersRCV001269874RCV001310174RCV003155971RCV003770410 |
|
NM_000059.4(BRCA2):c.2476G>T (p.Glu826Ter)
|
SNV Germline |
Chr13:32336831 |
Pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387772374 |
rs_1566226803 |
3 SubmittersRCV001269985RCV003155973RCV005094290 |
|
NM_000059.4(BRCA2):c.5142T>G (p.Tyr1714Ter)
|
SNV Germline |
Chr13:32339497 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387784202 |
rs_2072521352 |
3 SubmittersRCV001281567RCV005094325RCV005532911 |
|
NM_000059.4(BRCA2):c.893C>A (p.Thr298Lys)
|
SNV Germline |
Chr13:32332371 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760665 |
rs_753067824 |
4 SubmittersRCV001284596RCV001368493RCV003158653 |
|
NM_000059.4(BRCA2):c.922T>C (p.Phe308Leu)
|
SNV Germline |
Chr13:32332400 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247496242 |
rs_921111470 |
4 SubmittersRCV001283948RCV001871651RCV003158639 |
|
NM_000059.4(BRCA2):c.1037A>C (p.Asn346Thr)
|
SNV Germline |
Chr13:32332515 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761210 |
rs_786202042 |
3 SubmittersRCV001284068RCV001345310RCV003158640 |
|
NM_000059.4(BRCA2):c.1688G>A (p.Trp563Ter)
|
SNV Germline |
Chr13:32333166 |
Pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387765176 |
rs_1566224110 |
3 SubmittersRCV001284414RCV001382281RCV002411928 |
|
NM_000059.4(BRCA2):c.3364G>A (p.Gly1122Arg)
|
SNV Germline |
Chr13:32337719 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776388 |
rs_2072478647 |
3 SubmittersRCV001284564RCV001871660RCV003158651 |
|
NM_000059.4(BRCA2):c.4037C>G (p.Thr1346Ser)
|
SNV Germline |
Chr13:32338392 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779082 |
rs_1555283519 |
3 SubmittersRCV001284421RCV001360014RCV003158643 |
|
NM_000059.4(BRCA2):c.4510G>T (p.Val1504Leu)
|
SNV Germline |
Chr13:32338865 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781619 |
rs_2072506082 |
4 SubmittersRCV001284565RCV002542969RCV002339710 |
|
NM_000059.4(BRCA2):c.4660A>G (p.Ser1554Gly)
|
SNV Germline |
Chr13:32339015 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782744 |
rs_2072510232 |
3 SubmittersRCV001284572RCV001871661RCV003158652 |
|
NM_000059.4(BRCA2):c.4967C>T (p.Thr1656Ile)
|
SNV Germline |
Chr13:32339322 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783815 |
rs_876659777 |
5 SubmittersRCV001284087RCV002268463RCV002542966RCV003158641 |
|
NM_000059.4(BRCA2):c.5381T>G (p.Val1794Gly)
|
SNV Germline |
Chr13:32339736 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785206 |
rs_2072528202 |
2 SubmittersRCV001284429RCV003158644 |
|
NM_000059.4(BRCA2):c.5836T>A (p.Ser1946Thr)
|
SNV Germline |
Chr13:32340191 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787343 |
rs_80358811 |
2 SubmittersRCV001283932RCV003158638 |
|
NM_000059.4(BRCA2):c.6226G>A (p.Val2076Ile)
|
SNV Germline |
Chr13:32340581 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940937 |
rs_776348927 |
3 SubmittersRCV001284433RCV005094330RCV003158645 |
|
NM_000059.4(BRCA2):c.6319C>T (p.Pro2107Ser)
|
SNV Germline |
Chr13:32340674 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789062 |
rs_1593908231 |
3 SubmittersRCV001284436RCV001317029RCV003158646 |
|
NM_000059.4(BRCA2):c.6413T>G (p.Val2138Gly)
|
SNV Germline |
Chr13:32340768 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789265 |
rs_80358877 |
3 SubmittersRCV001284437RCV001401750RCV003158647 |
|
NM_000059.4(BRCA2):c.6644A>G (p.Tyr2215Cys)
|
SNV Germline |
Chr13:32340999 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940972 |
rs_753615126 |
4 SubmittersRCV001284579RCV002366105RCV003645226 |
|
NM_000059.4(BRCA2):c.8696A>G (p.Gln2899Arg)
|
SNV Germline |
Chr13:32376733 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387754835 |
rs_2072875390 |
4 SubmittersRCV001284590RCV002375327RCV002542970 |
|
NM_000059.4(BRCA2):c.8756G>C (p.Gly2919Ala)
|
SNV Germline |
Chr13:32379318 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387755704 |
rs_80359131 |
3 SubmittersRCV001284593RCV002375328RCV002541766 |
|
NM_000059.4(BRCA2):c.7682A>C (p.Gln2561Pro)
|
SNV Germline |
Chr13:32357806 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387745132 |
rs_55647716 |
3 SubmittersRCV001290189RCV004035576 |
|
NM_000059.4(BRCA2):c.7786G>C (p.Gly2596Arg)
|
SNV Germline |
Chr13:32357910 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387746004 |
rs_398122591 |
1 SubmittersRCV001290192 |
|
NM_000059.4(BRCA2):c.7807G>C (p.Ala2603Pro)
|
SNV Germline |
Chr13:32362524 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387746924 |
rs_730881560 |
1 SubmittersRCV001290193 |
|
NM_000059.4(BRCA2):c.7888A>C (p.Lys2630Gln)
|
SNV Germline |
Chr13:32362605 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387747122 |
rs_1380792392 |
1 SubmittersRCV001290194 |
|
NM_000059.4(BRCA2):c.8174G>T (p.Trp2725Leu)
|
SNV Germline |
Chr13:32363376 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387749613 |
rs_730881581 |
1 SubmittersRCV001290196 |
|
NM_000059.4(BRCA2):c.9226G>C (p.Gly3076Arg)
|
SNV Germline |
Chr13:32380115 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387758502 |
rs_1566253644 |
1 SubmittersRCV001290200 |
|
NM_000059.4(BRCA2):c.3169A>G (p.Lys1057Glu)
|
SNV Germline |
Chr13:32337524 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387775804 |
rs_1566227924 |
4 SubmittersRCV001290630RCV003158656RCV004004948RCV001776174 |
|
NM_000059.4(BRCA2):c.3593A>C (p.Asn1198Thr)
|
SNV Germline |
Chr13:32337948 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777448 |
rs_780927790 |
2 SubmittersRCV001290550RCV003158655 |
|
NM_000059.4(BRCA2):c.3784T>G (p.Ser1262Ala)
|
SNV Germline |
Chr13:32338139 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778342 |
rs_2072488451 |
2 SubmittersRCV001290514RCV003158654 |
|
NM_000059.4(BRCA2):c.4609G>C (p.Glu1537Gln)
|
SNV Germline |
Chr13:32338964 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247508135 |
rs_753244927 |
5 SubmittersRCV001294058RCV002339718RCV002538431RCV005423961 |
|
NM_000059.4(BRCA2):c.9946G>A (p.Glu3316Lys)
|
SNV Germline |
Chr13:32398459 |
Conflicting classifications of pathogenicity |
Wilms tumor 1 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387767277 |
rs_758051959 |
2 SubmittersRCV001294151RCV004951447 |
|
NM_000059.4(BRCA2):c.468T>G (p.Asp156Glu)
|
SNV Germline |
Chr13:32326143 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757225 |
rs_1197305103 |
3 SubmittersRCV001304088RCV002341605 |
|
NM_000059.4(BRCA2):c.962A>C (p.Gln321Pro)
|
SNV Germline |
Chr13:32332440 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760889 |
rs_2072401397 |
2 SubmittersRCV001308271RCV003158694 |
|
NM_000059.4(BRCA2):c.1145A>G (p.Lys382Arg)
|
SNV Germline |
Chr13:32332623 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761828 |
rs_1396595519 |
2 SubmittersRCV001306676RCV003158688 |
|
NM_000059.4(BRCA2):c.1817C>G (p.Pro606Arg)
|
SNV Germline |
Chr13:32333295 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766031 |
rs_80358469 |
2 SubmittersRCV001305954RCV003158686 |
|
NM_000059.4(BRCA2):c.1970T>G (p.Leu657Trp)
|
SNV Germline |
Chr13:32336325 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768542 |
rs_397507279 |
2 SubmittersRCV001303117RCV003158682 |
|
NM_000059.4(BRCA2):c.2008T>G (p.Cys670Gly)
|
SNV Germline |
Chr13:32336363 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387768744 |
rs_1566225927 |
2 SubmittersRCV003158677RCV001302015 |
|
NM_000059.4(BRCA2):c.2390A>G (p.Lys797Arg)
|
SNV Germline |
Chr13:32336745 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387771894 |
rs_2072456610 |
4 SubmittersRCV001294442RCV002451649RCV003399068 |
|
NM_000059.4(BRCA2):c.2759C>G (p.Pro920Arg)
|
SNV Germline |
Chr13:32337114 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773658 |
rs_1555282835 |
2 SubmittersRCV003158678RCV001302264 |
|
NM_000059.4(BRCA2):c.2773T>C (p.Ser925Pro)
|
SNV Germline |
Chr13:32337128 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773690 |
rs_2072464474 |
3 SubmittersRCV001294809RCV004004956RCV003158658 |
|
NM_000059.4(BRCA2):c.2916A>C (p.Lys972Asn)
|
SNV Germline |
Chr13:32337271 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774201 |
rs_2072467749 |
3 SubmittersRCV001296693RCV003158663 |
|
NM_000059.4(BRCA2):c.2955A>T (p.Lys985Asn)
|
SNV Germline |
Chr13:32337310 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774400 |
rs_1555282971 |
2 SubmittersRCV001309066RCV003158697 |
|
NM_000059.4(BRCA2):c.2973C>G (p.Asn991Lys)
|
SNV Germline |
Chr13:32337328 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774534 |
rs_2072469477 |
3 SubmittersRCV001307063RCV002437048 |
|
NM_000059.4(BRCA2):c.2996C>T (p.Pro999Leu)
|
SNV Germline |
Chr13:32337351 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774645 |
rs_2072470050 |
2 SubmittersRCV001304600RCV003158683 |
|
NM_000059.4(BRCA2):c.3128C>T (p.Ala1043Val)
|
SNV Germline |
Chr13:32337483 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775723 |
rs_1555283059 |
2 SubmittersRCV003158667RCV001298884 |
|
NM_000059.4(BRCA2):c.3153G>C (p.Leu1051Phe)
|
SNV Germline |
Chr13:32337508 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775771 |
rs_1566227877 |
4 SubmittersRCV001309058RCV002258191 |
|
NM_000059.4(BRCA2):c.3272T>C (p.Leu1091Ser)
|
SNV Germline |
Chr13:32337627 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776056 |
rs_1064795577 |
2 SubmittersRCV001295384RCV003158661 |
|
NM_000059.4(BRCA2):c.3344C>A (p.Ser1115Tyr)
|
SNV Germline |
Chr13:32337699 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776323 |
rs_879255448 |
3 SubmittersRCV001298929RCV002322196 |
|
NM_000059.4(BRCA2):c.3461C>A (p.Thr1154Asn)
|
SNV Germline |
Chr13:32337816 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776743 |
rs_786202212 |
2 SubmittersRCV001297766RCV003158666 |
|
NM_000059.4(BRCA2):c.3495T>G (p.His1165Gln)
|
SNV Germline |
Chr13:32337850 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776924 |
rs_776655838 |
2 SubmittersRCV001306895RCV003158690 |
|
NM_000059.4(BRCA2):c.3527T>C (p.Val1176Ala)
|
SNV Germline |
Chr13:32337882 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777088 |
rs_2072482870 |
2 SubmittersRCV001309571RCV003158698 |
|
NM_000059.4(BRCA2):c.3624A>C (p.Leu1208Phe)
|
SNV Germline |
Chr13:32337979 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387777587 |
rs_2072484830 |
2 SubmittersRCV003158676RCV001301916 |
|
NM_000059.4(BRCA2):c.3708A>T (p.Lys1236Asn)
|
SNV Germline |
Chr13:32338063 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778063 |
rs_2072486840 |
2 SubmittersRCV001304663RCV003158684 |
|
NM_000059.4(BRCA2):c.3739A>G (p.Ile1247Val)
|
SNV Germline |
Chr13:32338094 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778141 |
rs_2072487518 |
2 SubmittersRCV001300678RCV003158672 |
|
NM_000059.4(BRCA2):c.4054G>A (p.Asp1352Asn)
|
SNV Germline |
Chr13:32338409 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779116 |
rs_80358655 |
2 SubmittersRCV001307172RCV003158691 |
|
NM_000059.4(BRCA2):c.4208C>T (p.Thr1403Ile)
|
SNV Germline |
Chr13:32338563 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780248 |
rs_2072498862 |
4 SubmittersRCV001298801RCV004779042RCV002327642 |
|
NM_000059.4(BRCA2):c.4287G>T (p.Gln1429His)
|
SNV Germline |
Chr13:32338642 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387780642 |
rs_2072500788 |
4 SubmittersRCV001308016RCV001525789RCV004005048 |
|
NM_000059.4(BRCA2):c.4436G>A (p.Ser1479Asn)
|
SNV Germline |
Chr13:32338791 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781313 |
rs_80358678 |
4 SubmittersRCV001305185RCV001523986 |
|
NM_000059.4(BRCA2):c.4738T>C (p.Cys1580Arg)
|
SNV Germline |
Chr13:32339093 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783048 |
rs_2072511910 |
3 SubmittersRCV001305948RCV002341610 |
|
NM_000059.4(BRCA2):c.4990A>G (p.Ile1664Val)
|
SNV Germline |
Chr13:32339345 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783889 |
rs_2072517745 |
3 SubmittersRCV001296964RCV003158665 |
|
NM_000059.4(BRCA2):c.5491A>C (p.Ile1831Leu)
|
SNV Germline |
Chr13:32339846 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785758 |
rs_1593905631 |
2 SubmittersRCV001296279RCV003158662 |
|
NM_000059.4(BRCA2):c.5493A>G (p.Ile1831Met)
|
SNV Germline |
Chr13:32339848 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785768 |
rs_2072530727 |
2 SubmittersRCV001302503RCV003158679 |
|
NM_000059.4(BRCA2):c.5728A>G (p.Asn1910Asp)
|
SNV Germline |
Chr13:32340083 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387786893 |
rs_2072537077 |
3 SubmittersRCV001300784RCV003158673RCV004803612 |
|
NM_000059.4(BRCA2):c.5942C>G (p.Ala1981Gly)
|
SNV Germline |
Chr13:32340297 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787572 |
rs_2072542244 |
2 SubmittersRCV001307719RCV003158692 |
|
NM_000059.4(BRCA2):c.6071A>T (p.Gln2024Leu)
|
SNV Germline |
Chr13:32340426 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387787972 |
rs_80358845 |
3 SubmittersRCV003158680RCV001302770RCV004803614 |
|
NM_000059.4(BRCA2):c.6169G>A (p.Gly2057Arg)
|
SNV Germline |
Chr13:32340524 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788354 |
rs_80358856 |
2 SubmittersRCV003158670RCV001300299 |
|
NM_000059.4(BRCA2):c.6366G>A (p.Met2122Ile)
|
SNV Germline |
Chr13:32340721 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789158 |
rs_1163477792 |
2 SubmittersRCV003158671RCV001300571 |
|
NM_000059.4(BRCA2):c.6575T>C (p.Met2192Thr)
|
SNV Germline |
Chr13:32340930 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789926 |
rs_2072559893 |
2 SubmittersRCV001308414RCV003158695 |
|
NM_000059.4(BRCA2):c.6653A>T (p.Asp2218Val)
|
SNV Germline |
Chr13:32341008 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790411 |
rs_2072561785 |
4 SubmittersRCV001751561RCV001296043RCV002366117 |
|
NM_000059.4(BRCA2):c.7892T>C (p.Leu2631Pro)
|
SNV Germline |
Chr13:32362609 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387747130 |
rs_2072746856 |
3 SubmittersRCV001301794RCV001374714RCV005306381 |
|
NM_000059.4(BRCA2):c.7918A>G (p.Lys2640Glu)
|
SNV Germline |
Chr13:32362635 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387747180 |
rs_2072747596 |
3 SubmittersRCV001298538RCV004770014RCV003355364 |
|
NM_000059.4(BRCA2):c.8078T>C (p.Ile2693Thr)
|
SNV Germline |
Chr13:32363280 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387749216 |
rs_398122595 |
2 SubmittersRCV001295669RCV002411941 |
|
NM_000059.4(BRCA2):c.9022A>T (p.Ile3008Phe)
|
SNV Germline |
Chr13:32379818 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757485 |
rs_864622696 |
2 SubmittersRCV001298300RCV002375348 |
|
NM_000059.4(BRCA2):c.9056A>G (p.Lys3019Arg)
|
SNV Germline |
Chr13:32379852 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757553 |
rs_2072909723 |
2 SubmittersRCV001299689RCV004036145 |
|
NM_000059.4(BRCA2):c.9457G>A (p.Gly3153Ser)
|
SNV Germline |
Chr13:32394889 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761679 |
rs_1566259215 |
3 SubmittersRCV001299290RCV004998800RCV003284148 |
|
NM_000059.4(BRCA2):c.8487+2T>G
|
SNV Germline |
Chr13:32370559 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 1 |
Criteria Provided Single Submitter |
CA387752651 |
rs_886040944 |
1 SubmittersRCV001310183 |
|
NM_000059.4(BRCA2):c.8602A>G (p.Lys2868Glu)
|
SNV Germline |
Chr13:32371070 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387752891 |
rs_1469574477 |
2 SubmittersRCV002448002RCV004804455 |
|
NM_000059.4(BRCA2):c.886T>C (p.Tyr296His)
|
SNV Germline |
Chr13:32332364 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760651 |
rs_1347459118 |
4 SubmittersRCV001317026RCV003158714 |
|
NM_000059.4(BRCA2):c.1055A>G (p.Tyr352Cys)
|
SNV Germline |
Chr13:32332533 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761309 |
rs_2072403426 |
2 SubmittersRCV001319672RCV003158721 |
|
NM_000059.4(BRCA2):c.1319T>G (p.Leu440Arg)
|
SNV Germline |
Chr13:32332797 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762649 |
rs_2072409540 |
3 SubmittersRCV002384416RCV001321846 |
|
NM_000059.4(BRCA2):c.1567C>T (p.His523Tyr)
|
SNV Germline |
Chr13:32333045 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764718 |
rs_2072416501 |
3 SubmittersRCV001321138RCV002402893 |
|
NM_000059.4(BRCA2):c.1651G>T (p.Asp551Tyr)
|
SNV Germline |
Chr13:32333129 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765002 |
rs_876660500 |
2 SubmittersRCV001317706RCV003158717 |
|
NM_000059.4(BRCA2):c.1685G>T (p.Ser562Ile)
|
SNV Germline |
Chr13:32333163 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765162 |
rs_2072419618 |
2 SubmittersRCV001314989RCV003158706 |
|
NM_000059.4(BRCA2):c.1945C>A (p.Gln649Lys)
|
SNV Germline |
Chr13:32336300 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768388 |
rs_398122735 |
2 SubmittersRCV001316099RCV003158709 |
|
NM_000059.4(BRCA2):c.1990G>A (p.Gly664Arg)
|
SNV Germline |
Chr13:32336345 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387768645 |
rs_1346252146 |
3 SubmittersRCV001327285RCV003158747RCV005432671 |
|
NM_000059.4(BRCA2):c.2000T>C (p.Leu667Pro)
|
SNV Germline |
Chr13:32336355 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768696 |
rs_2072448677 |
2 SubmittersRCV001316635RCV003158712 |
|
NM_000059.4(BRCA2):c.2028T>G (p.Cys676Trp)
|
SNV Germline |
Chr13:32336383 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768865 |
rs_2072449178 |
3 SubmittersRCV001326622RCV003158743 |
|
NM_000059.4(BRCA2):c.2225A>G (p.Gln742Arg)
|
SNV Germline |
Chr13:32336580 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770705 |
rs_1282599125 |
5 SubmittersRCV001316100RCV004005083RCV002431898 |
|
NM_000059.4(BRCA2):c.2297C>A (p.Ala766Asp)
|
SNV Germline |
Chr13:32336652 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387771268 |
rs_2072454625 |
3 SubmittersRCV001316048RCV003158708RCV003230659 |
|
NM_000059.4(BRCA2):c.2386G>T (p.Asp796Tyr)
|
SNV Germline |
Chr13:32336741 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771874 |
rs_1555282650 |
2 SubmittersRCV001320787RCV003158727 |
|
NM_000059.4(BRCA2):c.2694G>T (p.Arg898Ser)
|
SNV Germline |
Chr13:32337049 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773472 |
rs_2072463067 |
2 SubmittersRCV001316922RCV003158713 |
|
NM_000059.4(BRCA2):c.2894T>C (p.Met965Thr)
|
SNV Germline |
Chr13:32337249 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774135 |
rs_2072467391 |
2 SubmittersRCV001320983RCV003158728 |
|
NM_000059.4(BRCA2):c.2908G>T (p.Asp970Tyr)
|
SNV Germline |
Chr13:32337263 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774184 |
rs_397507295 |
2 SubmittersRCV001323287RCV003158736 |
|
NM_000059.4(BRCA2):c.2935A>G (p.Ile979Val)
|
SNV Germline |
Chr13:32337290 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387774269 |
rs_2072468286 |
4 SubmittersRCV001313624RCV003158703RCV004803624 |
|
NM_000059.4(BRCA2):c.2938G>C (p.Asp980His)
|
SNV Germline |
Chr13:32337293 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774286 |
rs_397507298 |
2 SubmittersRCV001315796RCV003158707 |
|
NM_000059.4(BRCA2):c.2986C>G (p.Leu996Val)
|
SNV Germline |
Chr13:32337341 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774588 |
rs_2072469725 |
2 SubmittersRCV001325902RCV003158742 |
|
NM_000059.4(BRCA2):c.3047A>C (p.Glu1016Ala)
|
SNV Germline |
Chr13:32337402 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775024 |
rs_1566227668 |
2 SubmittersRCV001327669RCV003158748 |
|
NM_000059.4(BRCA2):c.3089T>C (p.Phe1030Ser)
|
SNV Germline |
Chr13:32337444 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775263 |
rs_2072472146 |
2 SubmittersRCV001317840RCV003158718 |
|
NM_000059.4(BRCA2):c.3097G>C (p.Asp1033His)
|
SNV Germline |
Chr13:32337452 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940665 |
rs_780279081 |
2 SubmittersRCV001316282RCV003158710 |
|
NM_000059.4(BRCA2):c.3197A>T (p.Asn1066Ile)
|
SNV Germline |
Chr13:32337552 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387775857 |
rs_762752733 |
4 SubmittersRCV001318719RCV002322234RCV003994264 |
|
NM_000059.4(BRCA2):c.3259A>G (p.Thr1087Ala)
|
SNV Germline |
Chr13:32337614 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776007 |
rs_775142613 |
3 SubmittersRCV001324042RCV003158737 |
|
NM_000059.4(BRCA2):c.3283C>G (p.Gln1095Glu)
|
SNV Germline |
Chr13:32337638 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776099 |
rs_397507662 |
2 SubmittersRCV001322893RCV003158734 |
|
NM_000059.4(BRCA2):c.3928A>T (p.Thr1310Ser)
|
SNV Germline |
Chr13:32338283 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387778844 |
rs_2072491912 |
3 SubmittersRCV001321397RCV003158731RCV003478779 |
|
NM_000059.4(BRCA2):c.4087A>G (p.Asn1363Asp)
|
SNV Germline |
Chr13:32338442 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779205 |
rs_2072495655 |
2 SubmittersRCV001320612RCV003158724 |
|
NM_000059.4(BRCA2):c.4117A>T (p.Met1373Leu)
|
SNV Germline |
Chr13:32338472 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779315 |
rs_781119815 |
2 SubmittersRCV001313615RCV003158702 |
|
NM_000059.4(BRCA2):c.4213A>C (p.Asn1405His)
|
SNV Germline |
Chr13:32338568 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780266 |
rs_1555283633 |
3 SubmittersRCV001312878RCV002327693 |
|
NM_000059.4(BRCA2):c.4340T>C (p.Val1447Ala)
|
SNV Germline |
Chr13:32338695 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780887 |
rs_2072501995 |
3 SubmittersRCV001320771RCV003158725 |
|
NM_000059.4(BRCA2):c.4358A>G (p.Lys1453Arg)
|
SNV Germline |
Chr13:32338713 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780955 |
rs_2072502303 |
2 SubmittersRCV001327889RCV003158749 |
|
NM_000059.4(BRCA2):c.4837C>T (p.Pro1613Ser)
|
SNV Germline |
Chr13:32339192 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783340 |
rs_2072513922 |
4 SubmittersRCV001327197RCV001773656RCV003158746 |
|
NM_000059.4(BRCA2):c.4838C>G (p.Pro1613Arg)
|
SNV Germline |
Chr13:32339193 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783343 |
rs_1360725610 |
2 SubmittersRCV001320265RCV003158723 |
|
NM_000059.4(BRCA2):c.4865G>T (p.Arg1622Ile)
|
SNV Germline |
Chr13:32339220 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783439 |
rs_864622427 |
3 SubmittersRCV001316543RCV002341643 |
|
NM_000059.4(BRCA2):c.5007A>T (p.Leu1669Phe)
|
SNV Germline |
Chr13:32339362 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783935 |
rs_2072518124 |
2 SubmittersRCV001317626RCV003158716 |
|
NM_000059.4(BRCA2):c.5108A>T (p.Glu1703Val)
|
SNV Germline |
Chr13:32339463 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387784132 |
rs_746177907 |
3 SubmittersRCV001319765RCV003158722RCV001810724 |
|
NM_000059.4(BRCA2):c.5436A>T (p.Glu1812Asp)
|
SNV Germline |
Chr13:32339791 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785509 |
rs_754090538 |
2 SubmittersRCV001318536RCV003158719 |
|
NM_000059.4(BRCA2):c.5497A>G (p.Asn1833Asp)
|
SNV Germline |
Chr13:32339852 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785779 |
rs_2072530840 |
2 SubmittersRCV001325132RCV003158739 |
|
NM_000059.4(BRCA2):c.5502T>A (p.Ser1834Arg)
|
SNV Germline |
Chr13:32339857 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785802 |
rs_2072530948 |
2 SubmittersRCV001313246RCV003158701 |
|
NM_000059.4(BRCA2):c.5558G>A (p.Cys1853Tyr)
|
SNV Germline |
Chr13:32339913 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785968 |
rs_2072532051 |
3 SubmittersRCV001313356RCV002350568 |
|
NM_000059.4(BRCA2):c.5620A>G (p.Ile1874Val)
|
SNV Germline |
Chr13:32339975 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247510697 |
rs_921917607 |
3 SubmittersRCV001317174RCV002350580 |
|
NM_000059.4(BRCA2):c.5825T>G (p.Val1942Gly)
|
SNV Germline |
Chr13:32340180 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787306 |
rs_2072539383 |
3 SubmittersRCV001323118RCV002476518RCV003158735 |
|
NM_000059.4(BRCA2):c.5927G>A (p.Gly1976Glu)
|
SNV Germline |
Chr13:32340282 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA6940914 |
rs_587782751 |
5 SubmittersRCV001324151RCV003158738RCV004803638 |
|
NM_000059.4(BRCA2):c.5961G>C (p.Gln1987His)
|
SNV Germline |
Chr13:32340316 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387787610 |
rs_387907575 |
3 SubmittersRCV001321005RCV003158729RCV001773640 |
|
NM_000059.4(BRCA2):c.6164T>C (p.Phe2055Ser)
|
SNV Germline |
Chr13:32340519 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788333 |
rs_2072548028 |
2 SubmittersRCV001317290RCV003158715 |
|
NM_000059.4(BRCA2):c.6258C>G (p.Ile2086Met)
|
SNV Germline |
Chr13:32340613 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788944 |
rs_1060504611 |
3 SubmittersRCV001313227RCV002366160 |
|
NM_000059.4(BRCA2):c.6287C>T (p.Pro2096Leu)
|
SNV Germline |
Chr13:32340642 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387789005 |
rs_587781396 |
3 SubmittersRCV001320774RCV003158726RCV004005103 |
|
NM_000059.4(BRCA2):c.6612T>A (p.Pro2204=)
|
SNV Germline |
Chr13:32340967 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483439295 |
rs_2072560682 |
2 SubmittersRCV001315597RCV002375402 |
|
NM_000059.4(BRCA2):c.6682G>A (p.Val2228Ile)
|
SNV Germline |
Chr13:32341037 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790566 |
rs_1593909466 |
3 SubmittersRCV001317923RCV002366172 |
|
NM_000059.4(BRCA2):c.6686A>T (p.Glu2229Val)
|
SNV Germline |
Chr13:32341041 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790581 |
rs_2072562512 |
2 SubmittersRCV001325500RCV003158741 |
|
NM_000059.4(BRCA2):c.6703A>G (p.Met2235Val)
|
SNV Germline |
Chr13:32341058 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387790647 |
rs_2072563047 |
4 SubmittersRCV001319896RCV002366181RCV005408830 |
|
NM_000059.4(BRCA2):c.6832A>C (p.Ile2278Leu)
|
SNV Germline |
Chr13:32341187 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387791484 |
rs_772645059 |
4 SubmittersRCV001319273RCV003158720RCV004005096 |
|
NM_000059.4(BRCA2):c.7465G>A (p.Asp2489Asn)
|
SNV Germline |
Chr13:32356457 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387743173 |
rs_1422201756 |
2 SubmittersRCV002395724RCV001326947 |
|
NM_000059.4(BRCA2):c.8086T>G (p.Leu2696Val)
|
SNV Germline |
Chr13:32363288 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749247 |
rs_767912817 |
2 SubmittersRCV002418980RCV001326661 |
|
NM_000059.4(BRCA2):c.8795A>G (p.His2932Arg)
|
SNV Germline |
Chr13:32379357 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387755962 |
rs_2072898238 |
3 SubmittersRCV001314836RCV004005075RCV003166799 |
|
NM_000059.4(BRCA2):c.9547A>C (p.Ile3183Leu)
|
SNV Germline |
Chr13:32396943 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387763179 |
rs_377123889 |
3 SubmittersRCV001321386RCV004803634RCV002377401 |
|
NM_000059.4(BRCA2):c.5731G>A (p.Asp1911Asn)
|
SNV Germline |
Chr13:32340086 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786915 |
rs_2072537137 |
3 SubmittersRCV001328380RCV003158751RCV002546257 |
|
NM_000059.4(BRCA2):c.931T>C (p.Cys311Arg)
|
SNV Germline |
Chr13:32332409 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Malignant tumor of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247496296 |
rs_61754140 |
3 SubmittersRCV001337541RCV001357899RCV003158755 |
|
NM_000059.4(BRCA2):c.944G>A (p.Cys315Tyr)
|
SNV Germline |
Chr13:32332422 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760821 |
rs_2072400977 |
2 SubmittersRCV001349173RCV003158800 |
|
NM_000059.4(BRCA2):c.1015G>C (p.Asp339His)
|
SNV Germline |
Chr13:32332493 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761102 |
rs_1555281693 |
2 SubmittersRCV001339151RCV003158764 |
|
NM_000059.4(BRCA2):c.1020A>T (p.Glu340Asp)
|
SNV Germline |
Chr13:32332498 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761120 |
rs_2072402711 |
2 SubmittersRCV001344453RCV003158785 |
|
NM_000059.4(BRCA2):c.1331A>T (p.Asn444Ile)
|
SNV Germline |
Chr13:32332809 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387762683 |
rs_2072409915 |
5 SubmittersRCV001351847RCV001751689RCV003158810RCV005057308 |
|
NM_000059.4(BRCA2):c.1412A>G (p.Glu471Gly)
|
SNV Germline |
Chr13:32332890 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764197 |
rs_2072412299 |
2 SubmittersRCV001337340RCV003158754 |
|
NM_000059.4(BRCA2):c.1518C>G (p.Phe506Leu)
|
SNV Germline |
Chr13:32332996 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764548 |
rs_1438502006 |
3 SubmittersRCV001350672RCV002395777 |
|
NM_000059.4(BRCA2):c.1782A>G (p.Ile594Met)
|
SNV Germline |
Chr13:32333260 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765703 |
rs_2072421971 |
2 SubmittersRCV001352129RCV003158813 |
|
NM_000059.4(BRCA2):c.2018A>G (p.Asn673Ser)
|
SNV Germline |
Chr13:32336373 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768795 |
rs_1193025774 |
3 SubmittersRCV001341912RCV003158771 |
|
NM_000059.4(BRCA2):c.2161C>A (p.Pro721Thr)
|
SNV Germline |
Chr13:32336516 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770250 |
rs_867089743 |
2 SubmittersRCV001350968RCV003158808 |
|
NM_000059.4(BRCA2):c.2194G>A (p.Glu732Lys)
|
SNV Germline |
Chr13:32336549 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770457 |
rs_1244303575 |
2 SubmittersRCV001342866RCV003158775 |
|
NM_000059.4(BRCA2):c.2311T>G (p.Leu771Val)
|
SNV Germline |
Chr13:32336666 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771390 |
rs_2072454912 |
3 SubmittersRCV001339258RCV003158766 |
|
NM_000059.4(BRCA2):c.2428A>C (p.Thr810Pro)
|
SNV Germline |
Chr13:32336783 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772143 |
rs_80358508 |
2 SubmittersRCV001350555RCV003158804 |
|
NM_000059.4(BRCA2):c.2549A>G (p.Gln850Arg)
|
SNV Germline |
Chr13:32336904 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772519 |
rs_2072459937 |
4 SubmittersRCV001341255RCV002438781 |
|
NM_000059.4(BRCA2):c.2692A>G (p.Arg898Gly)
|
SNV Germline |
Chr13:32337047 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773464 |
rs_2072463015 |
2 SubmittersRCV001349129RCV003158799 |
|
NM_000059.4(BRCA2):c.2700T>G (p.Asn900Lys)
|
SNV Germline |
Chr13:32337055 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773496 |
rs_1593897567 |
2 SubmittersRCV001342970RCV003158777 |
|
NM_000059.4(BRCA2):c.2767A>G (p.Lys923Glu)
|
SNV Germline |
Chr13:32337122 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773675 |
rs_2072464353 |
2 SubmittersRCV001350614RCV003158806 |
|
NM_000059.4(BRCA2):c.2984G>A (p.Gly995Glu)
|
SNV Germline |
Chr13:32337339 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774577 |
rs_397507299 |
3 SubmittersRCV001337563RCV003158756 |
|
NM_000059.4(BRCA2):c.3004A>G (p.Asn1002Asp)
|
SNV Germline |
Chr13:32337359 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940654 |
rs_780365246 |
4 SubmittersRCV001343189RCV004998838RCV003158779 |
|
NM_000059.4(BRCA2):c.3049A>C (p.Ile1017Leu)
|
SNV Germline |
Chr13:32337404 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775030 |
rs_2072470931 |
3 SubmittersRCV001340278RCV003158768 |
|
NM_000059.4(BRCA2):c.3179G>A (p.Ser1060Asn)
|
SNV Germline |
Chr13:32337534 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387775822 |
rs_2072474262 |
3 SubmittersRCV001349434RCV003158801RCV004531147 |
|
NM_000059.4(BRCA2):c.3250A>T (p.Ser1084Cys)
|
SNV Germline |
Chr13:32337605 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775976 |
rs_369907107 |
2 SubmittersRCV001337933RCV003158761 |
|
NM_000059.4(BRCA2):c.3448A>G (p.Thr1150Ala)
|
SNV Germline |
Chr13:32337803 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776669 |
rs_367789070 |
2 SubmittersRCV001338556RCV003158763 |
|
NM_000059.4(BRCA2):c.3478A>G (p.Arg1160Gly)
|
SNV Germline |
Chr13:32337833 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776837 |
rs_2072481649 |
2 SubmittersRCV001352461RCV003158814 |
|
NM_000059.4(BRCA2):c.3508G>A (p.Ala1170Thr)
|
SNV Germline |
Chr13:32337863 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776992 |
rs_2072482404 |
3 SubmittersRCV001348868RCV003158796 |
|
NM_000059.4(BRCA2):c.3540G>T (p.Lys1180Asn)
|
SNV Germline |
Chr13:32337895 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777157 |
rs_864622363 |
2 SubmittersRCV001348961RCV003158797 |
|
NM_000059.4(BRCA2):c.3962A>T (p.Asp1321Val)
|
SNV Germline |
Chr13:32338317 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247506226 |
rs_80358645 |
2 SubmittersRCV001345057RCV003158788 |
|
NM_000059.4(BRCA2):c.4043G>T (p.Cys1348Phe)
|
SNV Germline |
Chr13:32338398 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387779092 |
rs_1307056903 |
4 SubmittersRCV001339704RCV002322276RCV005414597 |
|
NM_000059.4(BRCA2):c.4127G>A (p.Gly1376Glu)
|
SNV Germline |
Chr13:32338482 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387779357 |
rs_780458959 |
3 SubmittersRCV001343425RCV003158780RCV004596445 |
|
NM_000059.4(BRCA2):c.4201G>A (p.Gly1401Ser)
|
SNV Germline |
Chr13:32338556 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780213 |
rs_2072498754 |
4 SubmittersRCV001776212RCV001347707RCV003158794 |
|
NM_000059.4(BRCA2):c.4207A>G (p.Thr1403Ala)
|
SNV Germline |
Chr13:32338562 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387780242 |
rs_2072498842 |
4 SubmittersRCV001345271RCV002329326RCV003478790 |
|
NM_000059.4(BRCA2):c.4482T>G (p.Ser1494Arg)
|
SNV Germline |
Chr13:32338837 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940783 |
rs_761826517 |
2 SubmittersRCV001344570RCV003158786 |
|
NM_000059.4(BRCA2):c.4616T>C (p.Leu1539Ser)
|
SNV Germline |
Chr13:32338971 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782031 |
rs_2072509102 |
4 SubmittersRCV001345544RCV002246322RCV003158789 |
|
NM_000059.4(BRCA2):c.4621A>C (p.Lys1541Gln)
|
SNV Germline |
Chr13:32338976 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782051 |
rs_2072509204 |
3 SubmittersRCV001345920RCV003158792 |
|
NM_000059.4(BRCA2):c.4828G>C (p.Val1610Leu)
|
SNV Germline |
Chr13:32339183 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783312 |
rs_80358705 |
2 SubmittersRCV001342363RCV003158774 |
|
NM_000059.4(BRCA2):c.4940C>T (p.Thr1647Ile)
|
SNV Germline |
Chr13:32339295 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783711 |
rs_1593903891 |
3 SubmittersRCV001348610RCV002341727 |
|
NM_000059.4(BRCA2):c.4969A>T (p.Asn1657Tyr)
|
SNV Germline |
Chr13:32339324 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783818 |
rs_587781599 |
3 SubmittersRCV001337591RCV002246315RCV003158757 |
|
NM_000059.4(BRCA2):c.5120C>G (p.Thr1707Ser)
|
SNV Germline |
Chr13:32339475 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784156 |
rs_786202354 |
2 SubmittersRCV001343921RCV003158783 |
|
NM_000059.4(BRCA2):c.5162A>G (p.Asn1721Ser)
|
SNV Germline |
Chr13:32339517 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784244 |
rs_2072522047 |
2 SubmittersRCV001349454RCV003158802 |
|
NM_000059.4(BRCA2):c.5365A>C (p.Lys1789Gln)
|
SNV Germline |
Chr13:32339720 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785116 |
rs_587782240 |
3 SubmittersRCV001341554RCV002350622 |
|
NM_000059.4(BRCA2):c.5374T>C (p.Ser1792Pro)
|
SNV Germline |
Chr13:32339729 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785161 |
rs_2072527957 |
3 SubmittersRCV001342941RCV003158776 |
|
NM_000059.4(BRCA2):c.5428G>T (p.Val1810Phe)
|
SNV Germline |
Chr13:32339783 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785467 |
rs_80358766 |
4 SubmittersRCV001343687RCV002070216RCV001762578RCV003158781 |
|
NM_000059.4(BRCA2):c.5524C>A (p.Pro1842Thr)
|
SNV Germline |
Chr13:32339879 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785889 |
rs_2072531201 |
3 SubmittersRCV001348643RCV002350647 |
|
NM_000059.4(BRCA2):c.5600C>A (p.Thr1867Lys)
|
SNV Germline |
Chr13:32339955 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786060 |
rs_2072533075 |
2 SubmittersRCV001337713RCV003158758 |
|
NM_000059.4(BRCA2):c.5722C>G (p.Leu1908Val)
|
SNV Germline |
Chr13:32340077 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786852 |
rs_878939010 |
3 SubmittersRCV001341537RCV002350621 |
|
NM_000059.4(BRCA2):c.5755A>G (p.Lys1919Glu)
|
SNV Germline |
Chr13:32340110 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787041 |
rs_2072537659 |
2 SubmittersRCV001340660RCV003158770 |
|
NM_000059.4(BRCA2):c.5855T>C (p.Leu1952Ser)
|
SNV Germline |
Chr13:32340210 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787407 |
rs_375064902 |
2 SubmittersRCV001352013RCV003158812 |
|
NM_000059.4(BRCA2):c.5944A>G (p.Ser1982Gly)
|
SNV Germline |
Chr13:32340299 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787576 |
rs_2072542296 |
3 SubmittersRCV001340043RCV004005163RCV003158767 |
|
NM_000059.4(BRCA2):c.5945G>A (p.Ser1982Asn)
|
SNV Germline |
Chr13:32340300 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940916 |
rs_28897738 |
4 SubmittersRCV001348747RCV001586140RCV003158795 |
|
NM_000059.4(BRCA2):c.6008T>G (p.Ile2003Arg)
|
SNV Germline |
Chr13:32340363 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787694 |
rs_80358837 |
2 SubmittersRCV001345767RCV003158791 |
|
NM_000059.4(BRCA2):c.6101G>T (p.Arg2034Leu)
|
SNV Germline |
Chr13:32340456 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788096 |
rs_80358849 |
2 SubmittersRCV001345656RCV003158790 |
|
NM_000059.4(BRCA2):c.6307T>C (p.Ser2103Pro)
|
SNV Germline |
Chr13:32340662 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789040 |
rs_2072551841 |
3 SubmittersRCV001348969RCV002250751RCV003158798 |
|
NM_000059.4(BRCA2):c.6345G>C (p.Glu2115Asp)
|
SNV Germline |
Chr13:32340700 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789114 |
rs_1432047332 |
2 SubmittersRCV001350688RCV003158807 |
|
NM_000059.4(BRCA2):c.6447T>G (p.Ile2149Met)
|
SNV Germline |
Chr13:32340802 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789323 |
rs_1593908723 |
2 SubmittersRCV001344303RCV003158784 |
|
NM_000059.4(BRCA2):c.6550C>A (p.Gln2184Lys)
|
SNV Germline |
Chr13:32340905 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789777 |
rs_80358887 |
2 SubmittersRCV001344662RCV003158787 |
|
NM_000059.4(BRCA2):c.6580A>G (p.Ile2194Val)
|
SNV Germline |
Chr13:32340935 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789964 |
rs_1566234950 |
2 SubmittersRCV001337788RCV003158759 |
|
NM_000059.4(BRCA2):c.6827C>T (p.Pro2276Leu)
|
SNV Germline |
Chr13:32341182 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247514700 |
rs_748541466 |
2 SubmittersRCV001340378RCV003158769 |
|
NM_000059.4(BRCA2):c.7645T>G (p.Cys2549Gly)
|
SNV Germline |
Chr13:32357769 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387744881 |
rs_2072708250 |
4 SubmittersRCV001339666RCV001524142RCV003473867 |
|
NM_000059.4(BRCA2):c.9473C>T (p.Thr3158Ile)
|
SNV Germline |
Chr13:32394905 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761770 |
rs_2073025198 |
2 SubmittersRCV001342619RCV004036001 |
|
NM_000059.4(BRCA2):c.1300A>C (p.Lys434Gln)
|
SNV Germline |
Chr13:32332778 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762528 |
rs_2137469817 |
3 SubmittersRCV001356703RCV002384497 |
|
NM_000059.4(BRCA2):c.1910-1G>A
|
SNV Germline |
Chr13:32336264 |
Pathogenic/Likely pathogenic |
Malignant tumor of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387768198 |
rs_1566225769 |
3 SubmittersRCV001358371RCV003645230RCV003473880 |
|
NM_000059.4(BRCA2):c.3380T>G (p.Phe1127Cys)
|
SNV Germline |
Chr13:32337735 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776427 |
rs_2137495989 |
3 SubmittersRCV001358242RCV003158831RCV002547687 |
|
NM_000059.4(BRCA2):c.3449C>T (p.Thr1150Ile)
|
SNV Germline |
Chr13:32337804 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776675 |
rs_730881524 |
3 SubmittersRCV001355744RCV002547615RCV003158820 |
|
NM_000059.4(BRCA2):c.3923A>C (p.Glu1308Ala)
|
SNV Germline |
Chr13:32338278 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778833 |
rs_2137501297 |
4 SubmittersRCV001358069RCV002322310RCV002547685 |
|
NM_000059.4(BRCA2):c.4021T>C (p.Ser1341Pro)
|
SNV Germline |
Chr13:32338376 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387779043 |
rs_2137502159 |
3 SubmittersRCV001358160RCV003158829RCV003530192 |
|
NM_000059.4(BRCA2):c.6334A>T (p.Arg2112Ter)
|
SNV Germline |
Chr13:32340689 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387789089 |
rs_2137526529 |
2 SubmittersRCV001357973RCV005306431 |
|
NM_000059.4(BRCA2):c.7726G>T (p.Gly2576Ter)
|
SNV Unknown |
Chr13:32357850 |
Pathogenic |
Malignant tumor of breast |
No Assertion Criteria Provided |
CA387745496 |
rs_1210418849 |
1 SubmittersRCV001358527 |
|
NM_000059.4(BRCA2):c.8668C>G (p.Leu2890Val)
|
SNV Germline |
Chr13:32376705 |
Conflicting classifications of pathogenicity |
Malignant tumor of breast Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754738 |
rs_80359127 |
5 SubmittersRCV001356685RCV001871936RCV002476633RCV002447446 |
|
NM_000059.4(BRCA2):c.656C>T (p.Thr219Ile)
|
SNV Germline |
Chr13:32329467 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387759448 |
rs_2072373199 |
3 SubmittersRCV001363259RCV004005290RCV004601477 |
|
NM_000059.4(BRCA2):c.1180G>A (p.Glu394Lys)
|
SNV Germline |
Chr13:32332658 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761982 |
rs_397507575 |
2 SubmittersRCV001373021RCV003158888 |
|
NM_000059.4(BRCA2):c.1289A>G (p.Asp430Gly)
|
SNV Germline |
Chr13:32332767 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762470 |
rs_2137469640 |
2 SubmittersRCV001368710RCV003158872 |
|
NM_000059.4(BRCA2):c.1728T>G (p.Asn576Lys)
|
SNV Germline |
Chr13:32333206 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765373 |
rs_1555282035 |
2 SubmittersRCV001374136RCV003158893 |
|
NM_000059.4(BRCA2):c.1807A>C (p.Lys603Gln)
|
SNV Germline |
Chr13:32333285 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765938 |
rs_1555282089 |
2 SubmittersRCV001363742RCV003158852 |
|
NM_000059.4(BRCA2):c.1823A>G (p.Asp608Gly)
|
SNV Germline |
Chr13:32333301 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766099 |
rs_2137475288 |
2 SubmittersRCV001372302RCV003158883 |
|
NM_000059.4(BRCA2):c.1832C>T (p.Ser611Leu)
|
SNV Germline |
Chr13:32333310 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940544 |
rs_80358474 |
5 SubmittersRCV003478801RCV003158876RCV001369191RCV003493851 |
|
NM_000059.4(BRCA2):c.1846T>A (p.Cys616Ser)
|
SNV Germline |
Chr13:32333324 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766337 |
rs_2137475583 |
3 SubmittersRCV001374268RCV004006845RCV003158896 |
|
NM_000059.4(BRCA2):c.1865C>G (p.Ala622Gly)
|
SNV Germline |
Chr13:32333343 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387766515 |
rs_80358477 |
3 SubmittersRCV001363901RCV003158853RCV004006783 |
|
NM_000059.4(BRCA2):c.1960G>A (p.Glu654Lys)
|
SNV Germline |
Chr13:32336315 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer |
Criteria Provided Conflicting Classifications |
CA387768480 |
rs_786203845 |
4 SubmittersRCV001374097RCV002420847RCV003492250 |
|
NM_000059.4(BRCA2):c.2218C>G (p.Pro740Ala)
|
SNV Germline |
Chr13:32336573 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770655 |
rs_2137484346 |
3 SubmittersRCV001371122RCV002432044 |
|
NM_000059.4(BRCA2):c.2443A>T (p.Met815Leu)
|
SNV Germline |
Chr13:32336798 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772235 |
rs_786203814 |
2 SubmittersRCV001369055RCV003158874 |
|
NM_000059.4(BRCA2):c.2593G>A (p.Glu865Lys)
|
SNV Germline |
Chr13:32336948 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772614 |
rs_587782014 |
2 SubmittersRCV001362157RCV003158845 |
|
NM_000059.4(BRCA2):c.2680G>C (p.Val894Leu)
|
SNV Germline |
Chr13:32337035 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773420 |
rs_28897715 |
2 SubmittersRCV001368026RCV003158868 |
|
NM_000059.4(BRCA2):c.2754C>G (p.Asn918Lys)
|
SNV Germline |
Chr13:32337109 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773648 |
rs_753073979 |
3 SubmittersRCV001373969RCV003158892 |
|
NM_000059.4(BRCA2):c.2783T>C (p.Val928Ala)
|
SNV Germline |
Chr13:32337138 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773712 |
rs_2137489850 |
2 SubmittersRCV001366865RCV003158865 |
|
NM_000059.4(BRCA2):c.2865C>G (p.Asn955Lys)
|
SNV Germline |
Chr13:32337220 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773998 |
rs_2137490709 |
3 SubmittersRCV001359180RCV003158834 |
|
NM_000059.4(BRCA2):c.3020G>A (p.Gly1007Asp)
|
SNV Germline |
Chr13:32337375 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774831 |
rs_1566227648 |
2 SubmittersRCV001363502RCV003158851 |
|
NM_000059.4(BRCA2):c.3077A>C (p.Lys1026Thr)
|
SNV Germline |
Chr13:32337432 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775196 |
rs_1060502380 |
2 SubmittersRCV001372593RCV003158885 |
|
NM_000059.4(BRCA2):c.3413A>G (p.Gln1138Arg)
|
SNV Germline |
Chr13:32337768 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776495 |
rs_80358584 |
2 SubmittersRCV001362912RCV003158849 |
|
NM_000059.4(BRCA2):c.3721T>C (p.Phe1241Leu)
|
SNV Germline |
Chr13:32338076 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778085 |
rs_2137499348 |
3 SubmittersRCV001366256RCV001509439RCV003158863 |
|
NM_000059.4(BRCA2):c.3757G>T (p.Ala1253Ser)
|
SNV Germline |
Chr13:32338112 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778206 |
rs_1226138707 |
2 SubmittersRCV001372595RCV003158886 |
|
NM_000059.4(BRCA2):c.3886A>G (p.Asn1296Asp)
|
SNV Germline |
Chr13:32338241 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778755 |
rs_1427687544 |
3 SubmittersRCV001368249RCV002368190 |
|
NM_000059.4(BRCA2):c.3967A>G (p.Lys1323Glu)
|
SNV Germline |
Chr13:32338322 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778925 |
rs_80358648 |
2 SubmittersRCV001368256RCV003158870 |
|
NM_000059.4(BRCA2):c.4186C>A (p.Gln1396Lys)
|
SNV Germline |
Chr13:32338541 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780143 |
rs_776286311 |
3 SubmittersRCV001365628RCV002329371 |
|
NM_000059.4(BRCA2):c.4243G>C (p.Glu1415Gln)
|
SNV Germline |
Chr13:32338598 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780398 |
rs_397507327 |
4 SubmittersRCV001361209RCV001732136RCV002329359 |
|
NM_000059.4(BRCA2):c.4273G>A (p.Asp1425Asn)
|
SNV Germline |
Chr13:32338628 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780563 |
rs_2137504699 |
3 SubmittersRCV001368711RCV003158873 |
|
NM_000059.4(BRCA2):c.4556C>A (p.Pro1519His)
|
SNV Germline |
Chr13:32338911 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781814 |
rs_587781534 |
2 SubmittersRCV001373749RCV003158891 |
|
NM_000059.4(BRCA2):c.4571T>G (p.Phe1524Cys)
|
SNV Germline |
Chr13:32338926 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781869 |
rs_1743560254 |
3 SubmittersRCV001360342RCV002341753 |
|
NM_000059.4(BRCA2):c.4643A>C (p.Glu1548Ala)
|
SNV Germline |
Chr13:32338998 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782155 |
rs_1428922464 |
3 SubmittersRCV001371132RCV002329392 |
|
NM_000059.4(BRCA2):c.4705T>A (p.Tyr1569Asn)
|
SNV Germline |
Chr13:32339060 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782910 |
rs_2137509279 |
2 SubmittersRCV001361459RCV003158841 |
|
NM_000059.4(BRCA2):c.4740T>G (p.Cys1580Trp)
|
SNV Germline |
Chr13:32339095 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783054 |
rs_2137509697 |
2 SubmittersRCV001369124RCV003158875 |
|
NM_000059.4(BRCA2):c.4954G>A (p.Ala1652Thr)
|
SNV Germline |
Chr13:32339309 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783769 |
rs_80358720 |
3 SubmittersRCV001372276RCV003158882 |
|
NM_000059.4(BRCA2):c.5237C>T (p.Ser1746Phe)
|
SNV Germline |
Chr13:32339592 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784676 |
rs_2137515447 |
3 SubmittersRCV001360569RCV003321832RCV003158839 |
|
NM_000059.4(BRCA2):c.5264A>G (p.Glu1755Gly)
|
SNV Germline |
Chr13:32339619 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784731 |
rs_2137515724 |
3 SubmittersRCV001370851RCV002341801 |
|
NM_000059.4(BRCA2):c.5273A>G (p.Asn1758Ser)
|
SNV Germline |
Chr13:32339628 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387784748 |
rs_2072525612 |
5 SubmittersRCV001363645RCV001820063RCV002350682RCV004006780 |
|
NM_000059.4(BRCA2):c.5336T>C (p.Val1779Ala)
|
SNV Germline |
Chr13:32339691 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784956 |
rs_2072526947 |
3 SubmittersRCV003158879RCV001370957 |
|
NM_000059.4(BRCA2):c.5401C>T (p.Pro1801Ser)
|
SNV Germline |
Chr13:32339756 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785325 |
rs_2072528556 |
3 SubmittersRCV001372271RCV002350714 |
|
NM_000059.4(BRCA2):c.5592C>A (p.Asp1864Glu)
|
SNV Germline |
Chr13:32339947 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786042 |
rs_1198204828 |
3 SubmittersRCV001360418RCV002051938RCV003158837 |
|
NM_000059.4(BRCA2):c.5627A>G (p.Glu1876Gly)
|
SNV Germline |
Chr13:32339982 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786117 |
rs_2137519300 |
3 SubmittersRCV001362549RCV003158848 |
|
NM_000059.4(BRCA2):c.5915C>T (p.Ala1972Val)
|
SNV Germline |
Chr13:32340270 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787521 |
rs_2137522256 |
2 SubmittersRCV001365250RCV003158859 |
|
NM_000059.4(BRCA2):c.5950A>G (p.Lys1984Glu)
|
SNV Germline |
Chr13:32340305 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787587 |
rs_2137522625 |
2 SubmittersRCV001367815RCV003158867 |
|
NM_000059.4(BRCA2):c.5960A>G (p.Gln1987Arg)
|
SNV Germline |
Chr13:32340315 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787607 |
rs_1364714267 |
3 SubmittersRCV001372768RCV002357270 |
|
NM_000059.4(BRCA2):c.6249T>G (p.Phe2083Leu)
|
SNV Germline |
Chr13:32340604 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387788927 |
rs_2072550078 |
4 SubmittersRCV001373389RCV002368207RCV004998859 |
|
NM_000059.4(BRCA2):c.6344A>T (p.Glu2115Val)
|
SNV Germline |
Chr13:32340699 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789112 |
rs_397507370 |
3 SubmittersRCV001360442RCV003158838 |
|
NM_000059.4(BRCA2):c.6677A>C (p.Glu2226Ala)
|
SNV Germline |
Chr13:32341032 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790547 |
rs_1281267586 |
2 SubmittersRCV001365399RCV003158860 |
|
NM_000059.4(BRCA2):c.6703A>T (p.Met2235Leu)
|
SNV Germline |
Chr13:32341058 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790648 |
rs_2072563047 |
3 SubmittersRCV001364785RCV003158858 |
|
NM_000059.4(BRCA2):c.6785T>C (p.Met2262Thr)
|
SNV Germline |
Chr13:32341140 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791287 |
rs_80358904 |
2 SubmittersRCV001368640RCV003158871 |
|
NM_000059.4(BRCA2):c.7735A>G (p.Ile2579Val)
|
SNV Germline |
Chr13:32357859 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387745580 |
rs_2137567207 |
2 SubmittersRCV001369251RCV002404878 |
|
NM_000059.4(BRCA2):c.9220C>G (p.Leu3074Val)
|
SNV Germline |
Chr13:32380109 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387758445 |
rs_151275325 |
2 SubmittersRCV001370272RCV004037465 |
|
NM_000059.4(BRCA2):c.1865C>A (p.Ala622Glu)
|
SNV Germline |
Chr13:32333343 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766512 |
rs_80358477 |
2 SubmittersRCV001375529RCV003158897 |
|
NM_000059.4(BRCA2):c.-39-1G>C
|
SNV Germline |
Chr13:32316421 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA2499222006 |
rs_1060499566 |
3 SubmittersRCV001379392RCV005520520RCV003234794 |
|
NM_000059.4(BRCA2):c.444T>A (p.Cys148Ter)
|
SNV Germline |
Chr13:32326119 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387757067 |
rs_2137449498 |
2 SubmittersRCV001389530RCV003136060 |
|
NM_000059.4(BRCA2):c.724A>T (p.Lys242Ter)
|
SNV Germline |
Chr13:32330961 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387760002 |
rs_2137461517 |
2 SubmittersRCV001385053RCV004762141 |
|
NM_000059.4(BRCA2):c.1018G>T (p.Glu340Ter)
|
SNV Germline |
Chr13:32332496 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387761113 |
rs_2137466889 |
1 SubmittersRCV001389884 |
|
NM_000059.4(BRCA2):c.1156G>T (p.Glu386Ter)
|
SNV Germline |
Chr13:32332634 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387761898 |
rs_1593892076 |
2 SubmittersRCV001388006RCV002357294 |
|
NM_000059.4(BRCA2):c.1228A>T (p.Lys410Ter)
|
SNV Germline |
Chr13:32332706 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387762175 |
rs_2137468996 |
2 SubmittersRCV001387666RCV004951663 |
|
NM_000059.4(BRCA2):c.1943C>A (p.Ser648Ter)
|
SNV Germline |
Chr13:32336298 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004952399 |
|
NM_000059.4(BRCA2):c.2173A>T (p.Lys725Ter)
|
SNV Germline |
Chr13:32336528 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387770319 |
rs_431825294 |
2 SubmittersRCV001390181RCV003169952 |
|
NM_000059.4(BRCA2):c.2409T>A (p.Tyr803Ter)
|
SNV Germline |
Chr13:32336764 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387772024 |
rs_80358504 |
1 SubmittersRCV001381778 |
|
NM_000059.4(BRCA2):c.2410G>T (p.Glu804Ter)
|
SNV Germline |
Chr13:32336765 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387772034 |
rs_2137486181 |
1 SubmittersRCV001387561 |
|
NM_000059.4(BRCA2):c.2809C>T (p.Gln937Ter)
|
SNV Germline |
Chr13:32337164 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387773764 |
rs_2137490179 |
2 SubmittersRCV001385424RCV002438889 |
|
NM_000059.4(BRCA2):c.3472G>T (p.Glu1158Ter)
|
SNV Germline |
Chr13:32337827 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387776807 |
rs_1555283258 |
2 SubmittersRCV001382445RCV003316839 |
|
NM_000059.4(BRCA2):c.4057G>T (p.Glu1353Ter)
|
SNV Germline |
Chr13:32338412 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387779124 |
rs_2137502511 |
1 SubmittersRCV001386796 |
|
NM_000059.4(BRCA2):c.4318A>T (p.Lys1440Ter)
|
SNV Germline |
Chr13:32338673 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387780815 |
rs_80358668 |
1 SubmittersRCV001384652 |
|
NM_000059.4(BRCA2):c.5217T>G (p.Tyr1739Ter)
|
SNV Germline |
Chr13:32339572 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387784629 |
rs_80358746 |
2 SubmittersRCV001387235RCV002341828 |
|
NM_000059.4(BRCA2):c.5899A>T (p.Lys1967Ter)
|
SNV Germline |
Chr13:32340254 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA247511916 |
rs_988285170 |
2 SubmittersRCV001389041RCV004037701 |
|
NM_000059.4(BRCA2):c.5947G>T (p.Gly1983Ter)
|
SNV Germline |
Chr13:32340302 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387787580 |
rs_1555284478 |
2 SubmittersRCV001387082RCV004601487 |
|
NM_000059.4(BRCA2):c.6284C>A (p.Ser2095Ter)
|
SNV Germline |
Chr13:32340639 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387788999 |
rs_1593908124 |
1 SubmittersRCV001383956 |
|
NM_000059.4(BRCA2):c.6407T>G (p.Leu2136Ter)
|
SNV Germline |
Chr13:32340762 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387789252 |
rs_2137527241 |
1 SubmittersRCV001381720 |
|
NM_000059.4(BRCA2):c.6920C>A (p.Ser2307Ter)
|
SNV Germline |
Chr13:32344636 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387792924 |
rs_2137537327 |
1 SubmittersRCV001386206 |
|
NM_000059.4(BRCA2):c.7018G>T (p.Glu2340Ter)
|
SNV Germline |
Chr13:32354871 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387794103 |
rs_2137555167 |
1 SubmittersRCV001385305 |
|
NM_000059.4(BRCA2):c.8437G>T (p.Gly2813Ter)
|
SNV Germline |
Chr13:32370507 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387752558 |
rs_2137597605 |
1 SubmittersRCV001382438 |
|
NM_000059.4(BRCA2):c.8487+1G>C
|
SNV Germline |
Chr13:32370558 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387752649 |
rs_81002798 |
1 SubmittersRCV001390836 |
|
NM_000059.4(BRCA2):c.8487+2T>A
|
SNV Germline |
Chr13:32370559 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387752650 |
rs_886040944 |
1 SubmittersRCV001384152 |
|
NM_000059.4(BRCA2):c.8517C>G (p.Tyr2839Ter)
|
SNV Germline |
Chr13:32370985 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387752710 |
rs_863224315 |
1 SubmittersRCV001384169 |
|
NM_000059.4(BRCA2):c.8633-2A>C
|
SNV Germline |
Chr13:32376668 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387754590 |
rs_81002886 |
2 SubmittersRCV001381420RCV004951656 |
|
NM_000059.4(BRCA2):c.8755-2A>T
|
SNV Germline |
Chr13:32379315 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387755675 |
rs_1566252482 |
3 SubmittersRCV001382127RCV001800992RCV002377568 |
|
NM_000059.4(BRCA2):c.8857G>T (p.Glu2953Ter)
|
SNV Germline |
Chr13:32379419 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387756319 |
rs_775261666 |
2 SubmittersRCV001382121RCV002377567 |
|
NM_000059.4(BRCA2):c.9699T>A (p.Cys3233Ter)
|
SNV Germline |
Chr13:32398212 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Multiple Submitters No Conflicts |
CA387765360 |
rs_746413844 |
6 SubmittersRCV001390686RCV003284297RCV003473999RCV004006852RCV005361596 |
|
NM_000059.4(BRCA2):c.6621A>G (p.Thr2207=)
|
SNV Germline |
Chr13:32340976 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483439312 |
rs_1433893010 |
3 SubmittersRCV001399965RCV003234063RCV004601488 |
|
NM_000059.4(BRCA2):c.7436-5G>A
|
SNV Germline |
Chr13:32356423 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA2499222287 |
rs_2137561628 |
2 SubmittersRCV001411487RCV005520526 |
|
NM_000059.4(BRCA2):c.7875A>G (p.Arg2625=)
|
SNV Germline |
Chr13:32362592 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483260908 |
rs_2137577015 |
3 SubmittersRCV001404446RCV002268481RCV002413954 |
|
NM_000059.4(BRCA2):c.7436-12A>G
|
SNV Germline |
Chr13:32356416 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA2499222285 |
rs_2137561595 |
2 SubmittersRCV001448657RCV001524719 |
|
NM_000059.4(BRCA2):c.7767C>T (p.Pro2589=)
|
SNV Germline |
Chr13:32357891 |
Conflicting classifications of pathogenicity |
Condition: not provided not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483439268 |
rs_2072711060 |
5 SubmittersRCV001800995RCV003230674RCV004007012RCV002414049RCV001440096 |
|
NM_000059.4(BRCA2):c.9648+9A>C
|
SNV Germline |
Chr13:32397053 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA2499222386 |
rs_2137659925 |
2 SubmittersRCV004998894RCV001433086 |
|
NM_000059.4(BRCA2):c.10013C>A (p.Ser3338Ter)
|
SNV Germline |
Chr13:32398526 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387767714 |
rs_1593202166 |
4 SubmittersRCV001465636RCV002272472RCV003327517RCV004038643 |
|
NM_000059.4(BRCA2):c.-39-8T>C
|
SNV Germline |
Chr13:32316414 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA697324399 |
rs_1268066075 |
2 SubmittersRCV001492607RCV004699402 |
|
NM_000059.4(BRCA2):c.-13A>G
|
SNV Germline |
Chr13:32316448 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA2499222009 |
rs_2138697841 |
2 SubmittersRCV001494149RCV004007184 |
|
NM_000059.4(BRCA2):c.717T>C (p.Ser239=)
|
SNV Germline |
Chr13:32330954 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA483274416 |
rs_2137461423 |
5 SubmittersRCV001497810RCV002377864RCV004794539RCV004782751 |
|
NM_000059.4(BRCA2):c.6841+8T>G
|
SNV Germline |
Chr13:32341204 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Condition: not provided Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA2499222256 |
rs_2137531137 |
4 SubmittersRCV001482271RCV001801000RCV001810739RCV005369893 |
|
NM_000059.4(BRCA2):c.10225C>T (p.Gln3409Ter)
|
SNV Germline |
Chr13:32398738 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387768546 |
rs_2137667834 |
3 SubmittersRCV001493315RCV002432384RCV003331170 |
|
NM_000059.4(BRCA2):c.5837C>T (p.Ser1946Leu)
|
SNV Germline |
Chr13:32340192 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787349 |
rs_2137521516 |
2 SubmittersRCV001508341RCV003158898 |
|
NM_000059.4(BRCA2):c.883G>A (p.Val295Ile)
|
SNV Germline |
Chr13:32332361 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387760644 |
rs_1254525537 |
4 SubmittersRCV001526230RCV002568121RCV004528506 |
|
NM_000059.4(BRCA2):c.1844A>G (p.Asn615Ser)
|
SNV Germline |
Chr13:32333322 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766313 |
rs_1593894051 |
2 SubmittersRCV001526223 |
|
NM_000059.4(BRCA2):c.2368G>A (p.Glu790Lys)
|
SNV Germline |
Chr13:32336723 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940601 |
rs_398122746 |
4 SubmittersRCV001524153RCV005057474 |
|
NM_000059.4(BRCA2):c.2451G>C (p.Lys817Asn)
|
SNV Germline |
Chr13:32336806 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772279 |
rs_767686668 |
2 SubmittersRCV001523847 |
|
NM_000059.4(BRCA2):c.2457A>C (p.Gln819His)
|
SNV Germline |
Chr13:32336812 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772308 |
rs_1555282684 |
2 SubmittersRCV001525332 |
|
NM_000059.4(BRCA2):c.2722G>T (p.Glu908Ter)
|
SNV Germline |
Chr13:32337077 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387773578 |
rs_2137489223 |
2 SubmittersRCV001525203RCV003478868 |
|
NM_000059.4(BRCA2):c.2852T>C (p.Leu951Pro)
|
SNV Germline |
Chr13:32337207 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773938 |
rs_2137490572 |
2 SubmittersRCV001524951 |
|
NM_000059.4(BRCA2):c.3259A>T (p.Thr1087Ser)
|
SNV Germline |
Chr13:32337614 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940685 |
rs_775142613 |
4 SubmittersRCV001524218RCV003222332 |
|
NM_000059.4(BRCA2):c.3360A>C (p.Glu1120Asp)
|
SNV Germline |
Chr13:32337715 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776380 |
rs_2137495828 |
2 SubmittersRCV001525960 |
|
NM_000059.4(BRCA2):c.4433T>C (p.Leu1478Pro)
|
SNV Germline |
Chr13:32338788 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781301 |
rs_1382689372 |
2 SubmittersRCV001524725 |
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
SNV Germline |
Chr13:32339789 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA387785496 |
rs_80358767 |
4 SubmittersRCV001524201RCV002488342 |
|
NM_000059.4(BRCA2):c.5878T>G (p.Cys1960Gly)
|
SNV Germline |
Chr13:32340233 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787455 |
rs_1566233377 |
3 SubmittersRCV001524612 |
|
NM_000059.4(BRCA2):c.6112C>A (p.His2038Asn)
|
SNV Germline |
Chr13:32340467 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788132 |
rs_587778123 |
2 SubmittersRCV001524206 |
|
NM_000059.4(BRCA2):c.6332A>G (p.Lys2111Arg)
|
SNV Germline |
Chr13:32340687 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789084 |
rs_2137526511 |
2 SubmittersRCV001523955 |
|
NM_000059.4(BRCA2):c.6393A>T (p.Lys2131Asn)
|
SNV Germline |
Chr13:32340748 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA6940948 |
rs_765669556 |
6 SubmittersRCV001525253RCV001873661RCV005361643RCV005419164 |
|
NM_000059.4(BRCA2):c.7956G>A (p.Val2652=)
|
SNV Germline |
Chr13:32362673 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483261027 |
rs_2137577856 |
3 SubmittersRCV001524625RCV002071881 |
|
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val)
|
SNV Germline |
Chr13:32363445 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749910 |
rs_80359071 |
3 SubmittersRCV001524453RCV001872034 |
|
NM_000059.4(BRCA2):c.8429G>A (p.Ser2810Asn)
|
SNV Germline |
Chr13:32370499 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387752542 |
rs_2072821561 |
4 SubmittersRCV001525861RCV003156349RCV003474003 |
|
NM_000059.4(BRCA2):c.9219C>T (p.Asp3073=)
|
SNV Germline |
Chr13:32380108 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA483262110 |
rs_2137625533 |
5 SubmittersRCV001524027RCV003645232RCV003478866RCV004007249 |
|
NM_000059.4(BRCA2):c.9518G>A (p.Cys3173Tyr)
|
SNV Germline |
Chr13:32396914 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762932 |
rs_2073040056 |
3 SubmittersRCV001526085RCV003645233 |
|
NM_000059.4(BRCA2):c.2419G>A (p.Val807Ile)
|
SNV Germline |
Chr13:32336774 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772083 |
rs_2137486258 |
4 SubmittersRCV001527056RCV003158899RCV004779128RCV003530194 |
|
NM_000059.4(BRCA2):c.5213C>T (p.Thr1738Ile)
|
SNV Germline |
Chr13:32339568 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784621 |
rs_1593904785 |
4 SubmittersRCV001530052RCV002334582 |
|
NM_000059.4(BRCA2):c.4058A>C (p.Glu1353Ala)
|
SNV Germline |
Chr13:32338413 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779125 |
rs_2137502526 |
2 SubmittersRCV001532232RCV003158902 |
|
NM_000059.4(BRCA2):c.2484T>A (p.Tyr828Ter)
|
SNV Germline |
Chr13:32336839 |
Pathogenic |
Condition: not provided |
Criteria Provided Single Submitter |
CA387772392 |
rs_45619134 |
1 SubmittersRCV001546994 |
|
NM_000059.4(BRCA2):c.1564G>A (p.Gly522Ser)
|
SNV Germline |
Chr13:32333042 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764709 |
rs_80358442 |
2 SubmittersRCV001551384RCV003158904 |
|
NM_000059.4(BRCA2):c.5632A>C (p.Asn1878His)
|
SNV Germline |
Chr13:32339987 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786128 |
rs_397507358 |
4 SubmittersRCV001552453RCV002343725RCV001882631 |
|
NM_000059.4(BRCA2):c.5351A>G (p.Asn1784Ser)
|
SNV Germline |
Chr13:32339706 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785042 |
rs_2072527448 |
2 SubmittersRCV001558852RCV003158905 |
|
NM_000059.4(BRCA2):c.9256+2T>G
|
SNV Germline |
Chr13:32380147 |
Likely pathogenic |
Condition: not provided |
Criteria Provided Single Submitter |
CA387758746 |
rs_1555288591 |
1 SubmittersRCV001558156 |
|
NM_000059.4(BRCA2):c.1507A>T (p.Lys503Ter)
|
SNV Germline |
Chr13:32332985 |
Pathogenic |
Breast carcinoma Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387764511 |
rs_2137472200 |
2 SubmittersRCV001559124RCV004591550 |
|
NM_000059.4(BRCA2):c.9502-40T>A
|
SNV Germline |
Chr13:32396858 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247507876 |
rs_563731281 |
3 SubmittersRCV001576751RCV002256822RCV002568492 |
|
NM_000059.4(BRCA2):c.4034A>G (p.Asp1345Gly)
|
SNV Germline |
Chr13:32338389 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779075 |
rs_2137502285 |
3 SubmittersRCV001581786RCV001866138RCV003158907 |
|
NM_000059.4(BRCA2):c.1897A>G (p.Asn633Asp)
|
SNV Germline |
Chr13:32333375 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial pancreatic carcinoma |
Criteria Provided Conflicting Classifications |
CA387766797 |
rs_2137476122 |
5 SubmittersRCV002820189RCV003157256RCV004999814RCV005362889 |
|
NM_000059.4(BRCA2):c.5017A>T (p.Thr1673Ser)
|
SNV Germline |
Chr13:32339372 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940841 |
rs_746274489 |
4 SubmittersRCV002343124RCV003096566RCV004785603 |
|
NM_000059.4(BRCA2):c.8789A>C (p.Asn2930Thr)
|
SNV Germline |
Chr13:32379351 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387755905 |
rs_397508008 |
2 SubmittersRCV003008354RCV004948886 |
|
NM_000059.4(BRCA2):c.9434T>C (p.Val3145Ala)
|
SNV Germline |
Chr13:32394866 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761554 |
rs_2073024407 |
2 SubmittersRCV002374005RCV003530258 |
|
NM_000059.4(BRCA2):c.151G>T (p.Glu51Ter)
|
SNV Germline |
Chr13:32319160 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387754284 |
rs_1566215788 |
1 SubmittersRCV003079158 |
|
NM_000059.4(BRCA2):c.1834G>T (p.Glu612Ter)
|
SNV Germline |
Chr13:32333312 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005527575 |
|
NM_000059.4(BRCA2):c.2790T>G (p.Tyr930Ter)
|
SNV Germline |
Chr13:32337145 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387773725 |
rs_2548524652 |
1 SubmittersRCV004519318 |
|
NM_000059.4(BRCA2):c.3795T>A (p.Cys1265Ter)
|
SNV Germline |
Chr13:32338150 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387778391 |
rs_2137500050 |
2 SubmittersRCV002635358RCV003464574 |
|
NM_000059.4(BRCA2):c.3895G>T (p.Glu1299Ter)
|
SNV Germline |
Chr13:32338250 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387778778 |
rs_2137501010 |
2 SubmittersRCV005239365RCV002366366 |
|
NM_000059.4(BRCA2):c.4126G>T (p.Gly1376Ter)
|
SNV Germline |
Chr13:32338481 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387779355 |
rs_2137503142 |
2 SubmittersRCV001994544RCV003348688 |
|
NM_000059.4(BRCA2):c.4729G>T (p.Glu1577Ter)
|
SNV Germline |
Chr13:32339084 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387783005 |
rs_878853586 |
2 SubmittersRCV003062574 |
|
NM_000059.4(BRCA2):c.5467A>T (p.Lys1823Ter)
|
SNV Germline |
Chr13:32339822 |
Pathogenic |
Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387785666 |
rs_276174858 |
2 SubmittersRCV002250809RCV003094069 |
|
NM_000059.4(BRCA2):c.6010G>T (p.Glu2004Ter)
|
SNV Germline |
Chr13:32340365 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387787697 |
rs_2137523213 |
3 SubmittersRCV003140365RCV003477057RCV004949041 |
|
NM_000059.4(BRCA2):c.6193C>T (p.Gln2065Ter)
|
SNV Germline |
Chr13:32340548 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387788821 |
rs_2137525105 |
1 SubmittersRCV003644824 |
|
NM_000059.4(BRCA2):c.6656C>A (p.Ser2219Ter)
|
SNV Germline |
Chr13:32341011 |
Pathogenic |
Gastric cancer |
No Assertion Criteria Provided |
CA387790423 |
rs_80358893 |
1 SubmittersRCV003164640 |
|
NM_000059.4(BRCA2):c.7252A>T (p.Arg2418Ter)
|
SNV Germline |
Chr13:32355105 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387740481 |
rs_80358953 |
2 SubmittersRCV001877120RCV004601561 |
|
NM_000059.4(BRCA2):c.7588C>T (p.Gln2530Ter)
|
SNV Germline |
Chr13:32356580 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387743872 |
rs_2548541662 |
1 SubmittersRCV003062578 |
|
NM_000059.4(BRCA2):c.7969A>T (p.Lys2657Ter)
|
SNV Germline |
Chr13:32362686 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387747327 |
rs_2137577993 |
2 SubmittersRCV003087398 |
|
NM_000059.4(BRCA2):c.8219T>G (p.Leu2740Ter)
|
SNV Germline |
Chr13:32363421 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005199999 |
|
NM_000059.4(BRCA2):c.8715T>A (p.Tyr2905Ter)
|
SNV Germline |
Chr13:32376752 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387754925 |
rs_45555831 |
1 SubmittersRCV002243577 |
|
NM_000059.4(BRCA2):c.8827C>T (p.Gln2943Ter)
|
SNV Germline |
Chr13:32379389 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387756146 |
rs_2137619580 |
2 SubmittersRCV001946769RCV004762276RCV003388847 |
|
NM_000059.4(BRCA2):c.9019A>T (p.Arg3007Ter)
|
SNV Germline |
Chr13:32379815 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
|
|
2 SubmittersRCV004690648 |
|
NM_000059.4(BRCA2):c.9398C>G (p.Ser3133Ter)
|
SNV Germline |
Chr13:32394830 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387761356 |
rs_876659439 |
3 SubmittersRCV004812499RCV003585025 |
|
NM_000059.4(BRCA2):c.517-1G>C
|
SNV Germline |
Chr13:32326498 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387757767 |
rs_81002849 |
2 SubmittersRCV002338399RCV005096748 |
|
NM_000059.4(BRCA2):c.7436-1G>A
|
SNV Germline |
Chr13:32356427 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387742943 |
rs_886040939 |
2 SubmittersRCV002385044RCV005097112 |
|
NM_000059.4(BRCA2):c.7618-2A>T
|
SNV Unknown |
Chr13:32357740 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387744748 |
rs_886040940 |
1 SubmittersRCV003335618 |
|
NM_000059.4(BRCA2):c.8488-2A>G
|
SNV Germline |
Chr13:32370954 |
Likely pathogenic |
Condition: not provided |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005052412 |
|
NM_000059.4(BRCA2):c.8632+2T>C
|
SNV Germline |
Chr13:32371102 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387753034 |
rs_397507998 |
4 SubmittersRCV001963311RCV004946942RCV003475260RCV003991046 |
|
NM_000059.4(BRCA2):c.9117+2T>G
|
SNV Germline |
Chr13:32379915 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387757757 |
rs_397508038 |
1 SubmittersRCV002635360 |
|
NM_000059.4(BRCA2):c.9502-1G>A
|
SNV Germline |
Chr13:32396897 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387762818 |
rs_1566260055 |
1 SubmittersRCV002374155 |
|
NM_000059.4(BRCA2):c.9648+1G>T
|
SNV Germline |
Chr13:32397045 |
Pathogenic |
Gastric cancer |
No Assertion Criteria Provided |
CA387763868 |
rs_730881573 |
1 SubmittersRCV003164575 |
|
NM_000059.4(BRCA2):c.6464T>G (p.Leu2155Arg)
|
SNV Germline |
Chr13:32340819 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789378 |
rs_2137527830 |
4 SubmittersRCV001730424RCV002032709RCV003158913 |
|
NM_000059.4(BRCA2):c.6661A>G (p.Asn2221Asp)
|
SNV Germline |
Chr13:32341016 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790449 |
rs_1555284785 |
2 SubmittersRCV001774765RCV003158923 |
|
NM_000059.4(BRCA2):c.1063G>A (p.Val355Ile)
|
SNV Germline |
Chr13:32332541 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761358 |
rs_2072403612 |
4 SubmittersRCV001755256RCV002414329RCV002540609 |
|
NM_000059.4(BRCA2):c.5163C>G (p.Asn1721Lys)
|
SNV Germline |
Chr13:32339518 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784247 |
rs_1566231837 |
2 SubmittersRCV001755277RCV003158925 |
|
NM_000059.4(BRCA2):c.4880T>C (p.Leu1627Pro)
|
SNV Germline |
Chr13:32339235 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783491 |
rs_2137511221 |
2 SubmittersRCV001757343RCV003158926 |
|
NM_000059.4(BRCA2):c.3583C>G (p.Leu1195Val)
|
SNV Germline |
Chr13:32337938 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777397 |
rs_878853571 |
2 SubmittersRCV001767991RCV003158930 |
|
NM_000059.4(BRCA2):c.4137G>C (p.Gln1379His)
|
SNV Germline |
Chr13:32338492 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779398 |
rs_768918982 |
2 SubmittersRCV001758877RCV003158927 |
|
NM_000059.4(BRCA2):c.2925C>G (p.Ile975Met)
|
SNV Germline |
Chr13:32337280 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774214 |
rs_1555282943 |
3 SubmittersRCV001759209RCV001868709RCV003158928 |
|
NM_000059.4(BRCA2):c.2512A>G (p.Lys838Glu)
|
SNV Germline |
Chr13:32336867 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940609 |
rs_747578057 |
3 SubmittersRCV001759214RCV003158929RCV003530206 |
|
NM_000059.4(BRCA2):c.1607C>A (p.Ser536Tyr)
|
SNV Germline |
Chr13:32333085 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764855 |
rs_2137473160 |
2 SubmittersRCV001753230RCV003158931 |
|
NM_000059.4(BRCA2):c.6215C>T (p.Ser2072Phe)
|
SNV Germline |
Chr13:32340570 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247513282 |
rs_80358862 |
4 SubmittersRCV001885115RCV003237570RCV003158932 |
|
NM_000059.4(BRCA2):c.3358G>T (p.Glu1120Ter)
|
SNV Germline |
Chr13:32337713 |
Pathogenic |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387776374 |
rs_587778124 |
2 SubmittersRCV003237575RCV004601528 |
|
NM_000059.4(BRCA2):c.3002C>T (p.Ser1001Leu)
|
SNV Germline |
Chr13:32337357 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387774680 |
rs_1555283001 |
2 SubmittersRCV003158934RCV003237576 |
|
NM_000059.4(BRCA2):c.1535C>G (p.Pro512Arg)
|
SNV Germline |
Chr13:32333013 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387764609 |
rs_1184226464 |
3 SubmittersRCV003158935RCV003237577 |
|
NM_000059.4(BRCA2):c.1009A>G (p.Asn337Asp)
|
SNV Germline |
Chr13:32332487 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761087 |
rs_2137466790 |
2 SubmittersRCV003237579RCV003158936 |
|
NM_000059.4(BRCA2):c.6040G>A (p.Val2014Ile)
|
SNV Germline |
Chr13:32340395 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787832 |
rs_2137523569 |
2 SubmittersRCV001776372RCV003158939 |
|
NM_000059.4(BRCA2):c.5126A>T (p.Asp1709Val)
|
SNV Germline |
Chr13:32339481 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784166 |
rs_786202836 |
2 SubmittersRCV001776944RCV003158940 |
|
NM_000059.4(BRCA2):c.2096A>G (p.Gln699Arg)
|
SNV Germline |
Chr13:32336451 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387769876 |
rs_2137483250 |
5 SubmittersRCV001776976RCV003158941RCV005095112 |
|
NM_000059.4(BRCA2):c.2468C>T (p.Ala823Val)
|
SNV Germline |
Chr13:32336823 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772357 |
rs_1555282694 |
3 SubmittersRCV001777010RCV002458604 |
|
NM_000059.4(BRCA2):c.3506A>C (p.Asn1169Thr)
|
SNV Germline |
Chr13:32337861 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776976 |
rs_1194031580 |
4 SubmittersRCV001779481RCV003158942RCV005057611 |
|
NM_000059.4(BRCA2):c.832A>G (p.Ser278Gly)
|
SNV Germline |
Chr13:32332310 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760464 |
rs_2137465127 |
4 SubmittersRCV001779527RCV003158943RCV002034539 |
|
NM_000059.4(BRCA2):c.7762A>G (p.Ile2588Val)
|
SNV Germline |
Chr13:32357886 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387745862 |
rs_2137567485 |
2 SubmittersRCV002222216 |
|
NM_000059.4(BRCA2):c.8954-2A>G
|
SNV Germline |
Chr13:32379748 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387757352 |
rs_1135401928 |
3 SubmittersRCV002222219RCV002255691 |
|
NM_000059.4(BRCA2):c.9105T>A (p.Tyr3035Ter)
|
SNV Germline |
Chr13:32379901 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387757707 |
rs_886040819 |
2 SubmittersRCV001885197 |
|
NM_000059.4(BRCA2):c.682-11A>G
|
SNV Germline |
Chr13:32330908 |
Conflicting classifications of pathogenicity |
not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247494124 |
rs_994470407 |
3 SubmittersRCV001822005RCV003493874RCV002222256 |
|
NM_000059.4(BRCA2):c.8953+80G>A
|
SNV Germline |
Chr13:32379595 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA247493617 |
rs_543831222 |
2 SubmittersRCV001787428 |
|
NM_000059.4(BRCA2):c.4408A>G (p.Ile1470Val)
|
SNV Germline |
Chr13:32338763 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781170 |
rs_2137506004 |
4 SubmittersRCV001797967RCV003645236RCV002329759 |
|
NM_000059.4(BRCA2):c.1140T>G (p.Ser380Arg)
|
SNV Germline |
Chr13:32332618 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761799 |
rs_2137468017 |
3 SubmittersRCV003158950RCV001801044RCV003645237 |
|
NM_000059.4(BRCA2):c.8296A>G (p.Thr2766Ala)
|
SNV Germline |
Chr13:32363498 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6941207 |
rs_774027004 |
5 SubmittersRCV001801048RCV001885241RCV002256841 |
|
NM_000059.4(BRCA2):c.5795A>G (p.His1932Arg)
|
SNV Germline |
Chr13:32340150 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787190 |
rs_1566233236 |
4 SubmittersRCV001801049RCV002359260RCV002074149 |
|
NM_000059.4(BRCA2):c.4585G>T (p.Gly1529Trp)
|
SNV Germline |
Chr13:32338940 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781917 |
rs_28897728 |
2 SubmittersRCV001801064RCV003158952 |
|
NM_000059.4(BRCA2):c.7805+2T>A
|
SNV Unknown |
Chr13:32357931 |
Likely pathogenic |
Condition: not provided |
Criteria Provided Single Submitter |
CA387746187 |
rs_886040941 |
1 SubmittersRCV001801065 |
|
NM_000059.4(BRCA2):c.2027G>A (p.Cys676Tyr)
|
SNV Germline |
Chr13:32336382 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768861 |
rs_1060502422 |
2 SubmittersRCV001801069RCV003158954 |
|
NM_000059.4(BRCA2):c.4714G>A (p.Ala1572Thr)
|
SNV Germline |
Chr13:32339069 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782946 |
rs_1266192644 |
2 SubmittersRCV001801073RCV003158955 |
|
NM_000059.4(BRCA2):c.7701T>G (p.Tyr2567Ter)
|
SNV Germline |
Chr13:32357825 |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Multiple Submitters No Conflicts |
CA387745258 |
rs_1555286423 |
2 SubmittersRCV002397751RCV001801083 |
|
NM_000059.4(BRCA2):c.902A>T (p.Asp301Val)
|
SNV Germline |
Chr13:32332380 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760682 |
rs_730881508 |
2 SubmittersRCV001801101RCV003158957 |
|
NM_000059.4(BRCA2):c.3270G>A (p.Met1090Ile)
|
SNV Germline |
Chr13:32337625 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776048 |
rs_80358574 |
4 SubmittersRCV002324202RCV001801120RCV001869453 |
|
NM_000059.4(BRCA2):c.7873A>C (p.Arg2625=)
|
SNV Germline |
Chr13:32362590 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483260903 |
rs_2137577004 |
2 SubmittersRCV001801130RCV005095176 |
|
NM_000059.4(BRCA2):c.2654A>T (p.Asp885Val)
|
SNV Germline |
Chr13:32337009 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773316 |
rs_398122750 |
2 SubmittersRCV001801135RCV003158960 |
|
NM_000059.4(BRCA2):c.892A>G (p.Thr298Ala)
|
SNV Germline |
Chr13:32332370 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760663 |
rs_2137465582 |
2 SubmittersRCV001801139RCV003158961 |
|
NM_000059.4(BRCA2):c.8223G>A (p.Lys2741=)
|
SNV Germline |
Chr13:32363425 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483439655 |
rs_2072759313 |
2 SubmittersRCV001801142RCV002541346 |
|
NM_000059.4(BRCA2):c.4060A>T (p.Thr1354Ser)
|
SNV Germline |
Chr13:32338415 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779132 |
rs_2137502543 |
2 SubmittersRCV001801148RCV003158963 |
|
NM_000059.4(BRCA2):c.1424A>T (p.Glu475Val)
|
SNV Germline |
Chr13:32332902 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764241 |
rs_1213277350 |
2 SubmittersRCV001806735RCV003158964 |
|
NM_000059.4(BRCA2):c.3193A>T (p.Ile1065Phe)
|
SNV Germline |
Chr13:32337548 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775849 |
rs_2137494162 |
2 SubmittersRCV001806765RCV003158965 |
|
NM_000059.4(BRCA2):c.8807T>A (p.Leu2936Ter)
|
SNV Germline |
Chr13:32379369 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387756035 |
rs_398122714 |
1 SubmittersRCV001804260 |
|
NM_000059.4(BRCA2):c.1430A>C (p.His477Pro)
|
SNV Germline |
Chr13:32332908 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764263 |
rs_2137471377 |
2 SubmittersRCV001804289 |
|
NM_000059.4(BRCA2):c.8342A>G (p.Asn2781Ser)
|
SNV Germline |
Chr13:32370412 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752354 |
rs_1434821822 |
4 SubmittersRCV001804319RCV002541396 |
|
NM_000059.4(BRCA2):c.5240A>T (p.Asn1747Ile)
|
SNV Germline |
Chr13:32339595 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784681 |
rs_1555284128 |
3 SubmittersRCV001804382RCV005057629 |
|
NM_000059.4(BRCA2):c.3065A>G (p.His1022Arg)
|
SNV Germline |
Chr13:32337420 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA247503593 |
rs_1032226790 |
5 SubmittersRCV001804438RCV005369958RCV005232666 |
|
NM_000059.4(BRCA2):c.5141A>C (p.Tyr1714Ser)
|
SNV Germline |
Chr13:32339496 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784200 |
rs_1566231796 |
3 SubmittersRCV001804611RCV002300593 |
|
NM_000059.4(BRCA2):c.5320C>T (p.Pro1774Ser)
|
SNV Germline |
Chr13:32339675 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784897 |
rs_2137516298 |
4 SubmittersRCV001804679RCV003530210 |
|
NM_000059.4(BRCA2):c.1494T>G (p.Phe498Leu)
|
SNV Germline |
Chr13:32332972 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247497635 |
rs_900882465 |
4 SubmittersRCV001805254RCV005095206 |
|
NM_000059.4(BRCA2):c.4453A>G (p.Ile1485Val)
|
SNV Germline |
Chr13:32338808 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781381 |
rs_2072504654 |
3 SubmittersRCV001805343RCV002300595 |
|
NM_000059.4(BRCA2):c.5354C>T (p.Thr1785Ile)
|
SNV Germline |
Chr13:32339709 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785067 |
rs_2137516710 |
2 SubmittersRCV001805361 |
|
NM_000059.4(BRCA2):c.2990T>C (p.Leu997Ser)
|
SNV Germline |
Chr13:32337345 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774603 |
rs_397507649 |
2 SubmittersRCV001805422 |
|
NM_000059.4(BRCA2):c.6495G>C (p.Leu2165Phe)
|
SNV Germline |
Chr13:32340850 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789520 |
rs_1555284722 |
2 SubmittersRCV001805446 |
|
NM_000059.4(BRCA2):c.1644G>C (p.Gln548His)
|
SNV Germline |
Chr13:32333122 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764976 |
rs_55986646 |
2 SubmittersRCV001805565 |
|
NM_000059.4(BRCA2):c.2300G>A (p.Ser767Asn)
|
SNV Germline |
Chr13:32336655 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771292 |
rs_2137485146 |
2 SubmittersRCV001805572 |
|
NM_000059.4(BRCA2):c.3019G>A (p.Gly1007Ser)
|
SNV Germline |
Chr13:32337374 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387774823 |
rs_2137492293 |
4 SubmittersRCV001805669RCV005057634RCV003478878 |
|
NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter)
|
SNV Germline |
Chr13:32339088 |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387783030 |
rs_2137509604 |
3 SubmittersRCV001806374RCV002541449RCV005601798 |
|
NM_000059.4(BRCA2):c.4632C>G (p.Asn1544Lys)
|
SNV Germline |
Chr13:32338987 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782107 |
rs_1593902960 |
2 SubmittersRCV001817303RCV003158966 |
|
NM_000059.4(BRCA2):c.4731A>G (p.Glu1577=)
|
SNV Germline |
Chr13:32339086 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483438169 |
rs_2137509579 |
3 SubmittersRCV001819639RCV002334709RCV003645240 |
|
NM_000059.4(BRCA2):c.1417C>T (p.His473Tyr)
|
SNV Germline |
Chr13:32332895 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764217 |
rs_2137471224 |
2 SubmittersRCV001822326RCV003158967 |
|
NM_000059.4(BRCA2):c.4997A>G (p.Asn1666Ser)
|
SNV Germline |
Chr13:32339352 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783908 |
rs_1344419982 |
4 SubmittersRCV001825064RCV003158968RCV002034677 |
|
NM_000059.4(BRCA2):c.4093T>C (p.Cys1365Arg)
|
SNV Germline |
Chr13:32338448 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779229 |
rs_2137502841 |
4 SubmittersRCV001844635RCV002543321RCV003158969 |
|
NM_000059.4(BRCA2):c.2015G>T (p.Arg672Ile)
|
SNV Germline |
Chr13:32336370 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768782 |
rs_2137482557 |
3 SubmittersRCV002028677RCV002423237 |
|
NM_000059.4(BRCA2):c.3964A>C (p.Asn1322His)
|
SNV Germline |
Chr13:32338319 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778920 |
rs_879255449 |
2 SubmittersRCV001962136RCV003159024 |
|
NM_000059.4(BRCA2):c.4397T>C (p.Leu1466Ser)
|
SNV Germline |
Chr13:32338752 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781120 |
rs_886040526 |
2 SubmittersRCV003159025RCV001962137 |
|
NM_000059.4(BRCA2):c.3898A>G (p.Met1300Val)
|
SNV Germline |
Chr13:32338253 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778785 |
rs_2137501041 |
2 SubmittersRCV001944934RCV003159026 |
|
NM_000059.4(BRCA2):c.4603G>T (p.Ala1535Ser)
|
SNV Germline |
Chr13:32338958 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781980 |
rs_2072508845 |
5 SubmittersRCV001962201RCV003483846RCV003159027 |
|
NM_000059.4(BRCA2):c.6824A>T (p.Glu2275Val)
|
SNV Germline |
Chr13:32341179 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791453 |
rs_2137530962 |
2 SubmittersRCV001927429RCV003156815 |
|
NM_000059.4(BRCA2):c.5037T>G (p.Thr1679=)
|
SNV Germline |
Chr13:32339392 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483438401 |
rs_1593904213 |
3 SubmittersRCV001977938RCV004946965RCV004999583 |
|
NM_000059.4(BRCA2):c.1072G>T (p.Val358Leu)
|
SNV Germline |
Chr13:32332550 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761399 |
rs_1555281727 |
2 SubmittersRCV002008137RCV003156953 |
|
NM_000059.4(BRCA2):c.8146G>C (p.Val2716Leu)
|
SNV Germline |
Chr13:32363348 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387749501 |
rs_777094216 |
2 SubmittersRCV002014867RCV003303546 |
|
NM_000059.4(BRCA2):c.1682G>A (p.Gly561Glu)
|
SNV Germline |
Chr13:32333160 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765146 |
rs_1593893593 |
3 SubmittersRCV002035920RCV003157044 |
|
NM_000059.4(BRCA2):c.6391A>C (p.Lys2131Gln)
|
SNV Germline |
Chr13:32340746 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789213 |
rs_2137527027 |
2 SubmittersRCV001867484RCV003159033 |
|
NM_000059.4(BRCA2):c.6056A>G (p.Asn2019Ser)
|
SNV Germline |
Chr13:32340411 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787904 |
rs_2137523727 |
3 SubmittersRCV001867633RCV003159034 |
|
NM_000059.4(BRCA2):c.2384C>T (p.Ser795Leu)
|
SNV Germline |
Chr13:32336739 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771868 |
rs_2072456490 |
3 SubmittersRCV001897331RCV002458716 |
|
NM_000059.4(BRCA2):c.4132A>T (p.Thr1378Ser)
|
SNV Germline |
Chr13:32338487 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779379 |
rs_1204269313 |
3 SubmittersRCV001961204RCV002331541 |
|
NM_000059.4(BRCA2):c.4798A>C (p.Asn1600His)
|
SNV Germline |
Chr13:32339153 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783250 |
rs_774484160 |
2 SubmittersRCV001956744RCV003156914 |
|
NM_000059.4(BRCA2):c.3781T>A (p.Ser1261Thr)
|
SNV Germline |
Chr13:32338136 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778323 |
rs_2137499946 |
2 SubmittersRCV002024315RCV003157071 |
|
NM_000059.4(BRCA2):c.5941G>C (p.Ala1981Pro)
|
SNV Germline |
Chr13:32340296 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787569 |
rs_2137522505 |
2 SubmittersRCV001880621RCV003159004 |
|
NM_000059.4(BRCA2):c.5777G>T (p.Ser1926Ile)
|
SNV Germline |
Chr13:32340132 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787129 |
rs_869320795 |
2 SubmittersRCV001924889RCV003156792 |
|
NM_000059.4(BRCA2):c.4694A>C (p.Lys1565Thr)
|
SNV Germline |
Chr13:32339049 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782872 |
rs_2137509148 |
2 SubmittersRCV001978678RCV003156880 |
|
NM_000059.4(BRCA2):c.2042T>C (p.Val681Ala)
|
SNV Germline |
Chr13:32336397 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA247500491 |
rs_1039304689 |
5 SubmittersRCV001959588RCV002266074RCV002423164RCV002466724 |
|
NM_000059.4(BRCA2):c.6938-1G>T
|
SNV Germline |
Chr13:32346826 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387792965 |
rs_886040936 |
1 SubmittersRCV001966213 |
|
NM_000059.4(BRCA2):c.3276T>A (p.Phe1092Leu)
|
SNV Germline |
Chr13:32337631 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776073 |
rs_2137495021 |
2 SubmittersRCV001970316RCV003156924 |
|
NM_000059.4(BRCA2):c.2191G>C (p.Glu731Gln)
|
SNV Germline |
Chr13:32336546 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770434 |
rs_2137484084 |
2 SubmittersRCV002031234RCV003157078 |
|
NM_000059.4(BRCA2):c.1898A>T (p.Asn633Ile)
|
SNV Germline |
Chr13:32333376 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766831 |
rs_2137476132 |
2 SubmittersRCV001966065RCV003156922 |
|
NM_000059.4(BRCA2):c.1026A>C (p.Glu342Asp)
|
SNV Germline |
Chr13:32332504 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761145 |
rs_777755589 |
2 SubmittersRCV001880552RCV003159001 |
|
NM_000059.4(BRCA2):c.4847T>C (p.Leu1616Ser)
|
SNV Germline |
Chr13:32339202 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783374 |
rs_398122786 |
2 SubmittersRCV001878170RCV003159002 |
|
NM_000059.4(BRCA2):c.6186T>A (p.Ser2062Arg)
|
SNV Germline |
Chr13:32340541 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387788412 |
rs_1315692124 |
3 SubmittersRCV001880563RCV003159003RCV003227042 |
|
NM_000059.4(BRCA2):c.1546T>A (p.Phe516Ile)
|
SNV Germline |
Chr13:32333024 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764645 |
rs_2137472549 |
2 SubmittersRCV001989324RCV003156997 |
|
NM_000059.4(BRCA2):c.6239T>C (p.Leu2080Ser)
|
SNV Germline |
Chr13:32340594 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387788904 |
rs_80358864 |
4 SubmittersRCV002048855RCV002361413RCV004011176 |
|
NM_000059.4(BRCA2):c.2788T>C (p.Tyr930His)
|
SNV Germline |
Chr13:32337143 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773720 |
rs_1168540941 |
2 SubmittersRCV001919892RCV003156822 |
|
NM_000059.4(BRCA2):c.4946A>G (p.Lys1649Arg)
|
SNV Germline |
Chr13:32339301 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783734 |
rs_2137511956 |
2 SubmittersRCV001990208RCV003156901 |
|
NM_000059.4(BRCA2):c.2701C>G (p.Leu901Val)
|
SNV Germline |
Chr13:32337056 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773499 |
rs_2072463186 |
3 SubmittersRCV001993023RCV003156902 |
|
NM_000059.4(BRCA2):c.4679G>C (p.Ser1560Thr)
|
SNV Germline |
Chr13:32339034 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782812 |
rs_2137508985 |
3 SubmittersRCV002048154RCV002337139 |
|
NM_000059.4(BRCA2):c.6268C>G (p.His2090Asp)
|
SNV Germline |
Chr13:32340623 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788966 |
rs_1405631299 |
3 SubmittersRCV002009611RCV003157048 |
|
NM_000059.4(BRCA2):c.6779A>G (p.Glu2260Gly)
|
SNV Germline |
Chr13:32341134 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791259 |
rs_2137530621 |
3 SubmittersRCV001891783RCV003156825 |
|
NM_000059.4(BRCA2):c.2062T>G (p.Tyr688Asp)
|
SNV Germline |
Chr13:32336417 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387769024 |
rs_2137482959 |
2 SubmittersRCV001867192RCV003158999 |
|
NM_000059.4(BRCA2):c.3991T>A (p.Ser1331Thr)
|
SNV Germline |
Chr13:32338346 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778974 |
rs_2137501854 |
2 SubmittersRCV003159069RCV001924598 |
|
NM_000059.4(BRCA2):c.6580A>T (p.Ile2194Phe)
|
SNV Germline |
Chr13:32340935 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789966 |
rs_1566234950 |
2 SubmittersRCV001892684RCV003156788 |
|
NM_000059.4(BRCA2):c.5470A>C (p.Asn1824His)
|
SNV Germline |
Chr13:32339825 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387785674 |
rs_2137517808 |
5 SubmittersRCV001948936RCV002344089RCV004010949 |
|
NM_000059.4(BRCA2):c.3733G>A (p.Glu1245Lys)
|
SNV Germline |
Chr13:32338088 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778112 |
rs_2137499510 |
2 SubmittersRCV001984314RCV003156993 |
|
NM_000059.4(BRCA2):c.1853C>T (p.Ala618Val)
|
SNV Germline |
Chr13:32333331 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766402 |
rs_2137475672 |
3 SubmittersRCV001984376RCV003156994 |
|
NM_000059.4(BRCA2):c.6387A>T (p.Glu2129Asp)
|
SNV Germline |
Chr13:32340742 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789204 |
rs_2137526976 |
2 SubmittersRCV001986618RCV003156995 |
|
NM_000059.4(BRCA2):c.3185C>T (p.Pro1062Leu)
|
SNV Germline |
Chr13:32337540 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940675 |
rs_564316199 |
3 SubmittersRCV002030892RCV003157076RCV004011166 |
|
NM_000059.4(BRCA2):c.934T>G (p.Phe312Val)
|
SNV Germline |
Chr13:32332412 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760783 |
rs_2137466032 |
2 SubmittersRCV002030938RCV003157077 |
|
NM_000059.4(BRCA2):c.8488-1G>C
|
SNV Germline |
Chr13:32370955 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387752654 |
rs_397507404 |
1 SubmittersRCV002027715 |
|
NM_000059.4(BRCA2):c.2533C>T (p.Pro845Ser)
|
SNV Germline |
Chr13:32336888 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772491 |
rs_2137487455 |
3 SubmittersRCV002030970RCV002454314 |
|
NM_000059.4(BRCA2):c.5024G>T (p.Cys1675Phe)
|
SNV Germline |
Chr13:32339379 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783970 |
rs_2137512936 |
2 SubmittersRCV001905864RCV003156796 |
|
NM_000059.4(BRCA2):c.2534C>T (p.Pro845Leu)
|
SNV Germline |
Chr13:32336889 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772492 |
rs_1288748311 |
2 SubmittersRCV001945165RCV003156850 |
|
NM_000059.4(BRCA2):c.4753A>T (p.Ile1585Phe)
|
SNV Germline |
Chr13:32339108 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783096 |
rs_2137509864 |
2 SubmittersRCV001945252RCV003156851 |
|
NM_000059.4(BRCA2):c.1031C>T (p.Ser344Phe)
|
SNV Germline |
Chr13:32332509 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761171 |
rs_1593891776 |
3 SubmittersRCV001969080RCV004011011RCV003156927 |
|
NM_000059.4(BRCA2):c.1597A>C (p.Thr533Pro)
|
SNV Germline |
Chr13:32333075 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764819 |
rs_1555281980 |
2 SubmittersRCV001970707RCV003156928 |
|
NM_000059.4(BRCA2):c.2041G>A (p.Val681Ile)
|
SNV Germline |
Chr13:32336396 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768927 |
rs_2072449369 |
3 SubmittersRCV001993721RCV003156929 |
|
NM_000059.4(BRCA2):c.2621C>G (p.Thr874Ser)
|
SNV Germline |
Chr13:32336976 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773199 |
rs_2137488252 |
2 SubmittersRCV001991775RCV003157006 |
|
NM_000059.4(BRCA2):c.5905G>C (p.Val1969Leu)
|
SNV Germline |
Chr13:32340260 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787502 |
rs_1566233487 |
2 SubmittersRCV003159011RCV001907263 |
|
NM_000059.4(BRCA2):c.9670A>C (p.Ile3224Leu)
|
SNV Germline |
Chr13:32398183 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765181 |
rs_374321381 |
2 SubmittersRCV001894282RCV004039664 |
|
NM_000059.4(BRCA2):c.6266A>C (p.Glu2089Ala)
|
SNV Germline |
Chr13:32340621 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788960 |
rs_2137525811 |
2 SubmittersRCV002015365RCV003157002 |
|
NM_000059.4(BRCA2):c.3010A>C (p.Ser1004Arg)
|
SNV Germline |
Chr13:32337365 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774738 |
rs_398122759 |
2 SubmittersRCV001991567RCV003157003 |
|
NM_000059.4(BRCA2):c.3335C>T (p.Thr1112Ile)
|
SNV Germline |
Chr13:32337690 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776291 |
rs_2137495566 |
3 SubmittersRCV001991570RCV003157004 |
|
NM_000059.4(BRCA2):c.8575C>A (p.Gln2859Lys)
|
SNV Germline |
Chr13:32371043 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387752824 |
rs_80359115 |
3 SubmittersRCV002015381RCV002443021RCV004719220 |
|
NM_000059.4(BRCA2):c.2202G>T (p.Leu734Phe)
|
SNV Germline |
Chr13:32336557 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770514 |
rs_2137484178 |
2 SubmittersRCV002009893RCV003156966 |
|
NM_000059.4(BRCA2):c.843C>A (p.Asp281Glu)
|
SNV Germline |
Chr13:32332321 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760506 |
rs_2137465225 |
2 SubmittersRCV001991189RCV003156967 |
|
NM_000059.4(BRCA2):c.1878A>C (p.Glu626Asp)
|
SNV Germline |
Chr13:32333356 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766636 |
rs_2137475937 |
2 SubmittersRCV001864669RCV003159041 |
|
NM_000059.4(BRCA2):c.1707G>T (p.Gln569His)
|
SNV Germline |
Chr13:32333185 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765278 |
rs_1555282027 |
3 SubmittersRCV001917771RCV002397869 |
|
NM_000059.4(BRCA2):c.5233A>T (p.Met1745Leu)
|
SNV Germline |
Chr13:32339588 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784664 |
rs_786202206 |
2 SubmittersRCV001929540RCV003156864 |
|
NM_000059.4(BRCA2):c.8417C>A (p.Ser2806Ter)
|
SNV Germline |
Chr13:32370487 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387752521 |
rs_587782785 |
1 SubmittersRCV001960599 |
|
NM_000059.4(BRCA2):c.7729A>T (p.Lys2577Ter)
|
SNV Germline |
Chr13:32357853 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387745513 |
rs_2137567147 |
1 SubmittersRCV001939430 |
|
NM_000059.4(BRCA2):c.3692C>T (p.Thr1231Ile)
|
SNV Germline |
Chr13:32338047 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778033 |
rs_2137499081 |
2 SubmittersRCV001988398RCV003156972 |
|
NM_000059.4(BRCA2):c.4223A>G (p.Gln1408Arg)
|
SNV Germline |
Chr13:32338578 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA6940760 |
rs_762778002 |
4 SubmittersRCV001871298RCV003156793RCV005232700 |
|
NM_000059.4(BRCA2):c.6197T>C (p.Val2066Ala)
|
SNV Germline |
Chr13:32340552 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788829 |
rs_2137525153 |
2 SubmittersRCV001989695RCV003156998 |
|
NM_000059.4(BRCA2):c.1961A>G (p.Glu654Gly)
|
SNV Germline |
Chr13:32336316 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768488 |
rs_2072447912 |
2 SubmittersRCV002046528RCV003157080 |
|
NM_000059.4(BRCA2):c.2753A>G (p.Asn918Ser)
|
SNV Germline |
Chr13:32337108 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773645 |
rs_2137489532 |
2 SubmittersRCV001961313RCV003156931 |
|
NM_000059.4(BRCA2):c.6686A>C (p.Glu2229Ala)
|
SNV Germline |
Chr13:32341041 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790579 |
rs_2072562512 |
2 SubmittersRCV001872295RCV003159007 |
|
NM_000059.4(BRCA2):c.899T>C (p.Val300Ala)
|
SNV Germline |
Chr13:32332377 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760676 |
rs_1555281625 |
3 SubmittersRCV001947750RCV003156853 |
|
NM_000059.4(BRCA2):c.2257T>G (p.Phe753Val)
|
SNV Germline |
Chr13:32336612 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770978 |
rs_878853562 |
3 SubmittersRCV001953379RCV003156885 |
|
NM_000059.4(BRCA2):c.5056T>G (p.Leu1686Val)
|
SNV Germline |
Chr13:32339411 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784030 |
rs_2137513514 |
2 SubmittersRCV001960449RCV003156886 |
|
NM_000059.4(BRCA2):c.1060T>C (p.Phe354Leu)
|
SNV Germline |
Chr13:32332538 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387761340 |
rs_1318579197 |
4 SubmittersRCV001973273RCV003156934RCV004011016 |
|
NM_000059.4(BRCA2):c.1938C>G (p.Ser646Arg)
|
SNV Germline |
Chr13:32336293 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768347 |
rs_28897711 |
4 SubmittersRCV001996427RCV003157016 |
|
NM_000059.4(BRCA2):c.4013G>A (p.Gly1338Asp)
|
SNV Germline |
Chr13:32338368 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779023 |
rs_2137502060 |
2 SubmittersRCV001900180RCV003159016 |
|
NM_000059.4(BRCA2):c.6341C>T (p.Pro2114Leu)
|
SNV Germline |
Chr13:32340696 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789106 |
rs_1593908321 |
3 SubmittersRCV002361112RCV001932324 |
|
NM_000059.4(BRCA2):c.1157A>T (p.Glu386Val)
|
SNV Germline |
Chr13:32332635 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761902 |
rs_2137468194 |
2 SubmittersRCV001875646RCV003156800 |
|
NM_000059.4(BRCA2):c.4298G>T (p.Gly1433Val)
|
SNV Germline |
Chr13:32338653 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780703 |
rs_758795405 |
2 SubmittersRCV001933183RCV003156852 |
|
NM_000059.4(BRCA2):c.6680C>T (p.Ala2227Val)
|
SNV Germline |
Chr13:32341035 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387790565 |
rs_2137529724 |
3 SubmittersRCV001964033RCV003156933RCV003154052 |
|
NM_000059.4(BRCA2):c.6097A>C (p.Ile2033Leu)
|
SNV Germline |
Chr13:32340452 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788079 |
rs_772846629 |
2 SubmittersRCV002019855RCV003157013 |
|
NM_000059.4(BRCA2):c.5135G>C (p.Gly1712Ala)
|
SNV Germline |
Chr13:32339490 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784185 |
rs_1453037467 |
2 SubmittersRCV001996274RCV003157014 |
|
NM_000059.4(BRCA2):c.3597C>G (p.Asp1199Glu)
|
SNV Germline |
Chr13:32337952 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387777476 |
rs_192892005 |
2 SubmittersRCV003159015RCV001932070 |
|
NM_000059.4(BRCA2):c.9044A>T (p.Lys3015Ile)
|
SNV Germline |
Chr13:32379840 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757527 |
rs_2137623016 |
2 SubmittersRCV001897925RCV002370453 |
|
NM_000059.4(BRCA2):c.6480A>G (p.Gln2160=)
|
SNV Germline |
Chr13:32340835 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA483439050 |
rs_2137527978 |
3 SubmittersRCV001898098RCV002359363RCV004699531 |
|
NM_000059.4(BRCA2):c.2099T>G (p.Leu700Ter)
|
SNV Germline |
Chr13:32336454 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387769900 |
rs_1555282449 |
1 SubmittersRCV001938282 |
|
NM_000059.4(BRCA2):c.5375C>T (p.Ser1792Phe)
|
SNV Germline |
Chr13:32339730 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785171 |
rs_1555284200 |
2 SubmittersRCV002014259RCV003157055 |
|
NM_000059.4(BRCA2):c.5625G>C (p.Lys1875Asn)
|
SNV Germline |
Chr13:32339980 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786113 |
rs_1316343192 |
2 SubmittersRCV002043287RCV003157057 |
|
NM_000059.4(BRCA2):c.3888T>G (p.Asn1296Lys)
|
SNV Germline |
Chr13:32338243 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778761 |
rs_2137500977 |
2 SubmittersRCV002049995RCV003158974 |
|
NM_000059.4(BRCA2):c.5954C>A (p.Ser1985Tyr)
|
SNV Germline |
Chr13:32340309 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787596 |
rs_1272409475 |
3 SubmittersRCV002050073RCV002359282 |
|
NM_000059.4(BRCA2):c.3476G>A (p.Cys1159Tyr)
|
SNV Germline |
Chr13:32337831 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776828 |
rs_2137496967 |
2 SubmittersRCV001882941RCV003159043 |
|
NM_000059.4(BRCA2):c.5302C>T (p.Leu1768Phe)
|
SNV Germline |
Chr13:32339657 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387784832 |
rs_2137516131 |
4 SubmittersRCV001936292RCV002344067RCV005232723 |
|
NM_000059.4(BRCA2):c.6829C>A (p.Leu2277Ile)
|
SNV Germline |
Chr13:32341184 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791473 |
rs_786202214 |
3 SubmittersRCV002003209RCV003156976 |
|
NM_000059.4(BRCA2):c.6098T>C (p.Ile2033Thr)
|
SNV Germline |
Chr13:32340453 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788084 |
rs_398122548 |
4 SubmittersRCV001950728RCV002352624 |
|
NM_000059.4(BRCA2):c.3397C>A (p.Pro1133Thr)
|
SNV Germline |
Chr13:32337752 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776464 |
rs_786202430 |
2 SubmittersRCV001968035RCV003156881 |
|
NM_000059.4(BRCA2):c.1567C>A (p.His523Asn)
|
SNV Germline |
Chr13:32333045 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764719 |
rs_2072416501 |
3 SubmittersRCV002398074RCV002028579 |
|
NM_000059.4(BRCA2):c.3764T>C (p.Val1255Ala)
|
SNV Germline |
Chr13:32338119 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778230 |
rs_1593900450 |
2 SubmittersRCV001992068RCV003157007 |
|
NM_000059.4(BRCA2):c.6660A>C (p.Glu2220Asp)
|
SNV Germline |
Chr13:32341015 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790445 |
rs_2137529521 |
3 SubmittersRCV001982484RCV003156889 |
|
NM_000059.4(BRCA2):c.1205G>T (p.Gly402Val)
|
SNV Germline |
Chr13:32332683 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762076 |
rs_1566223012 |
2 SubmittersRCV001982500RCV003156890 |
|
NM_000059.4(BRCA2):c.3592A>G (p.Asn1198Asp)
|
SNV Germline |
Chr13:32337947 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777443 |
rs_2137498140 |
2 SubmittersRCV002002835RCV003156940 |
|
NM_000059.4(BRCA2):c.5530T>C (p.Phe1844Leu)
|
SNV Germline |
Chr13:32339885 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785913 |
rs_2072531391 |
3 SubmittersRCV002002838RCV002344145 |
|
NM_000059.4(BRCA2):c.9352A>G (p.Met3118Val)
|
SNV Germline |
Chr13:32394784 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761106 |
rs_1566258951 |
2 SubmittersRCV001969227RCV002442967 |
|
NM_000059.4(BRCA2):c.2962G>C (p.Asp988His)
|
SNV Germline |
Chr13:32337317 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774464 |
rs_1593898237 |
2 SubmittersRCV002012991RCV003157020 |
|
NM_000059.4(BRCA2):c.6775A>G (p.Asn2259Asp)
|
SNV Germline |
Chr13:32341130 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791238 |
rs_2137530592 |
2 SubmittersRCV002013267RCV003157021 |
|
NM_000059.4(BRCA2):c.1234C>G (p.Pro412Ala)
|
SNV Germline |
Chr13:32332712 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762202 |
rs_1555281787 |
2 SubmittersRCV003159019RCV001937388 |
|
NM_000059.4(BRCA2):c.1633G>C (p.Val545Leu)
|
SNV Germline |
Chr13:32333111 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764936 |
rs_2137473390 |
2 SubmittersRCV001882052RCV003156806 |
|
NM_000059.4(BRCA2):c.2566A>C (p.Asn856His)
|
SNV Germline |
Chr13:32336921 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772557 |
rs_2137487755 |
2 SubmittersRCV001931174RCV003156855 |
|
NM_000059.4(BRCA2):c.2217C>G (p.His739Gln)
|
SNV Germline |
Chr13:32336572 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770650 |
rs_1131692117 |
2 SubmittersRCV001987656RCV003156893 |
|
NM_000059.4(BRCA2):c.4424T>G (p.Met1475Arg)
|
SNV Germline |
Chr13:32338779 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781262 |
rs_2072503948 |
3 SubmittersRCV001970885RCV002331552 |
|
NM_000059.4(BRCA2):c.5476G>A (p.Ala1826Thr)
|
SNV Germline |
Chr13:32339831 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785697 |
rs_2072530360 |
2 SubmittersRCV001967012RCV003156939 |
|
NM_000059.4(BRCA2):c.2755G>T (p.Glu919Ter)
|
SNV Germline |
Chr13:32337110 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387773649 |
rs_431825298 |
2 SubmittersRCV001931060RCV003585155 |
|
NM_000059.4(BRCA2):c.848T>G (p.Ile283Ser)
|
SNV Germline |
Chr13:32332326 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940471 |
rs_730881507 |
3 SubmittersRCV001954508RCV002449594 |
|
NM_000059.4(BRCA2):c.6596C>G (p.Thr2199Ser)
|
SNV Germline |
Chr13:32340951 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790059 |
rs_2137528906 |
2 SubmittersRCV001977502RCV003156946 |
|
NM_000059.4(BRCA2):c.4711G>A (p.Glu1571Lys)
|
SNV Germline |
Chr13:32339066 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782935 |
rs_2137509353 |
3 SubmittersRCV002005312RCV002334996 |
|
NM_000059.4(BRCA2):c.6127A>G (p.Lys2043Glu)
|
SNV Germline |
Chr13:32340482 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788187 |
rs_2137524563 |
3 SubmittersRCV001883393RCV003159047 |
|
NM_000059.4(BRCA2):c.4974G>C (p.Gln1658His)
|
SNV Germline |
Chr13:32339329 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783840 |
rs_1555284012 |
2 SubmittersRCV001925250RCV003156830 |
|
NM_000059.4(BRCA2):c.1432A>T (p.Thr478Ser)
|
SNV Germline |
Chr13:32332910 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764272 |
rs_2137471409 |
3 SubmittersRCV001925257RCV003156831 |
|
NM_000059.4(BRCA2):c.1910-2A>G
|
SNV Germline |
Chr13:32336263 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387768192 |
rs_1228762581 |
1 SubmittersRCV001953705 |
|
NM_000059.4(BRCA2):c.5093T>C (p.Phe1698Ser)
|
SNV Germline |
Chr13:32339448 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387784106 |
rs_1224120349 |
4 SubmittersRCV002008386RCV002335016RCV004011062 |
|
NM_000059.4(BRCA2):c.6652G>A (p.Asp2218Asn)
|
SNV Germline |
Chr13:32341007 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387790405 |
rs_730881547 |
4 SubmittersRCV002047007RCV003158984RCV003483842RCV004804256 |
|
NM_000059.4(BRCA2):c.6484A>G (p.Lys2162Glu)
|
SNV Germline |
Chr13:32340839 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789457 |
rs_1555284717 |
2 SubmittersRCV001964304RCV003156936 |
|
NM_000059.4(BRCA2):c.1892T>C (p.Phe631Ser)
|
SNV Germline |
Chr13:32333370 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387766752 |
rs_2137476085 |
2 SubmittersRCV003159017RCV001901958 |
|
NM_000059.4(BRCA2):c.2462T>G (p.Val821Gly)
|
SNV Germline |
Chr13:32336817 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772333 |
rs_587779361 |
2 SubmittersRCV001917583RCV003156802 |
|
NM_000059.4(BRCA2):c.3098A>G (p.Asp1033Gly)
|
SNV Germline |
Chr13:32337453 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775316 |
rs_141702094 |
4 SubmittersRCV001890966RCV004010779RCV003156803 |
|
NM_000059.4(BRCA2):c.4538A>G (p.Asp1513Gly)
|
SNV Germline |
Chr13:32338893 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781732 |
rs_1566230577 |
3 SubmittersRCV001976028RCV003156942 |
|
NM_000059.4(BRCA2):c.2588A>G (p.Asn863Ser)
|
SNV Germline |
Chr13:32336943 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940615 |
rs_760880622 |
3 SubmittersRCV002013343RCV003157022 |
|
NM_000059.4(BRCA2):c.6791T>C (p.Leu2264Ser)
|
SNV Germline |
Chr13:32341146 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791313 |
rs_1364062389 |
2 SubmittersRCV002019869RCV003157024 |
|
NM_000059.4(BRCA2):c.2496G>T (p.Glu832Asp)
|
SNV Germline |
Chr13:32336851 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772416 |
rs_786201479 |
2 SubmittersRCV001927214RCV003156814 |
|
NM_000059.4(BRCA2):c.5156A>G (p.Asn1719Ser)
|
SNV Germline |
Chr13:32339511 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784234 |
rs_1179768667 |
3 SubmittersRCV001997041RCV002334960 |
|
NM_000059.4(BRCA2):c.5059C>T (p.Leu1687Phe)
|
SNV Germline |
Chr13:32339414 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387784037 |
rs_1408726129 |
3 SubmittersRCV001997076RCV003156897RCV004010976 |
|
NM_000059.4(BRCA2):c.4086C>G (p.His1362Gln)
|
SNV Germline |
Chr13:32338441 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779202 |
rs_760304057 |
2 SubmittersRCV001976325RCV003156951 |
|
NM_000059.4(BRCA2):c.6142A>C (p.Asn2048His)
|
SNV Germline |
Chr13:32340497 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788249 |
rs_1367585890 |
2 SubmittersRCV002011176RCV003157029 |
|
NM_000059.4(BRCA2):c.2794G>T (p.Asp932Tyr)
|
SNV Germline |
Chr13:32337149 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773733 |
rs_2137489980 |
2 SubmittersRCV002011210RCV003157030 |
|
NM_000059.4(BRCA2):c.3455T>C (p.Leu1152Ser)
|
SNV Germline |
Chr13:32337810 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776701 |
rs_80358593 |
2 SubmittersRCV002011219RCV003157031 |
|
NM_000059.4(BRCA2):c.4654G>C (p.Gly1552Arg)
|
SNV Germline |
Chr13:32339009 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782212 |
rs_1566230890 |
3 SubmittersRCV002022810RCV002337130 |
|
NM_000059.4(BRCA2):c.3229G>C (p.Val1077Leu)
|
SNV Germline |
Chr13:32337584 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775919 |
rs_2137494548 |
2 SubmittersRCV001947515RCV003159031 |
|
NM_000059.4(BRCA2):c.1306A>C (p.Lys436Gln)
|
SNV Germline |
Chr13:32332784 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762579 |
rs_2137469924 |
3 SubmittersRCV002386625RCV001942686 |
|
NM_000059.4(BRCA2):c.6742C>G (p.His2248Asp)
|
SNV Germline |
Chr13:32341097 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791109 |
rs_1350512388 |
3 SubmittersRCV001912438RCV003156813 |
|
NM_000059.4(BRCA2):c.4804A>T (p.Lys1602Ter)
|
SNV Germline |
Chr13:32339159 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387783265 |
rs_1566231167 |
2 SubmittersRCV001896552 |
|
NM_000059.4(BRCA2):c.4676T>A (p.Phe1559Tyr)
|
SNV Germline |
Chr13:32339031 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782799 |
rs_1060502411 |
2 SubmittersRCV002007838RCV003156949 |
|
NM_000059.4(BRCA2):c.5444C>A (p.Thr1815Asn)
|
SNV Germline |
Chr13:32339799 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785552 |
rs_587782031 |
2 SubmittersRCV001976181RCV003156950 |
|
NM_000059.4(BRCA2):c.3785C>T (p.Ser1262Leu)
|
SNV Germline |
Chr13:32338140 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778346 |
rs_80358620 |
3 SubmittersRCV002022530RCV002346275 |
|
NM_000059.4(BRCA2):c.6154T>A (p.Ser2052Thr)
|
SNV Germline |
Chr13:32340509 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788298 |
rs_1566234040 |
2 SubmittersRCV001901734RCV003156834 |
|
NM_000059.4(BRCA2):c.4048C>G (p.His1350Asp)
|
SNV Germline |
Chr13:32338403 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779101 |
rs_2137502442 |
2 SubmittersRCV002030750RCV003156983 |
|
NM_000059.4(BRCA2):c.6212G>A (p.Ser2071Asn)
|
SNV Germline |
Chr13:32340567 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387788857 |
rs_80358861 |
5 SubmittersRCV001914659RCV002361146RCV004009255 |
|
NM_000059.4(BRCA2):c.2053G>A (p.Asp685Asn)
|
SNV Germline |
Chr13:32336408 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768982 |
rs_2137482881 |
2 SubmittersRCV001914709RCV003159054 |
|
NM_000059.4(BRCA2):c.3665C>T (p.Ala1222Val)
|
SNV Germline |
Chr13:32338020 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777983 |
rs_760071561 |
2 SubmittersRCV001914727RCV003159055 |
|
NM_000059.4(BRCA2):c.1882C>G (p.Pro628Ala)
|
SNV Germline |
Chr13:32333360 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387766671 |
rs_1163156807 |
2 SubmittersRCV003159021RCV001905493 |
|
NM_000059.4(BRCA2):c.9136T>C (p.Phe3046Leu)
|
SNV Germline |
Chr13:32380025 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757838 |
rs_2072912764 |
2 SubmittersRCV001911155RCV004041439 |
|
NM_000059.4(BRCA2):c.2218C>A (p.Pro740Thr)
|
SNV Germline |
Chr13:32336573 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770653 |
rs_2137484346 |
2 SubmittersRCV001996707RCV003156894 |
|
NM_000059.4(BRCA2):c.3530A>T (p.Asp1177Val)
|
SNV Germline |
Chr13:32337885 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777104 |
rs_761130568 |
3 SubmittersRCV002045080RCV003157026 |
|
NM_000059.4(BRCA2):c.1610A>C (p.Glu537Ala)
|
SNV Germline |
Chr13:32333088 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764865 |
rs_2072417616 |
3 SubmittersRCV002045121RCV002268596RCV003157028 |
|
NM_000059.4(BRCA2):c.839A>G (p.Lys280Arg)
|
SNV Germline |
Chr13:32332317 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387760490 |
rs_1306507591 |
4 SubmittersRCV002440988RCV001927535RCV004538591 |
|
NM_000059.4(BRCA2):c.2437A>G (p.Ile813Val)
|
SNV Germline |
Chr13:32336792 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772203 |
rs_2137486460 |
2 SubmittersRCV001891315RCV003156819 |
|
NM_000059.4(BRCA2):c.3637G>A (p.Glu1213Lys)
|
SNV Germline |
Chr13:32337992 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777924 |
rs_1566228876 |
2 SubmittersRCV002014671RCV003156900 |
|
NM_000059.4(BRCA2):c.4976C>T (p.Ser1659Phe)
|
SNV Germline |
Chr13:32339331 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783850 |
rs_1222542759 |
3 SubmittersRCV001971462RCV002335003 |
|
NM_000059.4(BRCA2):c.5749T>C (p.Ser1917Pro)
|
SNV Germline |
Chr13:32340104 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787005 |
rs_2137520531 |
2 SubmittersRCV001998343RCV003156955 |
|
NM_000059.4(BRCA2):c.5139T>G (p.Asn1713Lys)
|
SNV Germline |
Chr13:32339494 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784193 |
rs_2072521292 |
3 SubmittersRCV002018720RCV003156956 |
|
NM_000059.4(BRCA2):c.1143C>G (p.Asp381Glu)
|
SNV Germline |
Chr13:32332621 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761814 |
rs_1593892043 |
2 SubmittersRCV001927459RCV003156816 |
|
NM_000059.4(BRCA2):c.6260G>T (p.Arg2087Ile)
|
SNV Germline |
Chr13:32340615 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788949 |
rs_1593908026 |
3 SubmittersRCV001971381RCV003156954 |
|
NM_000059.4(BRCA2):c.6367G>C (p.Glu2123Gln)
|
SNV Germline |
Chr13:32340722 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789162 |
rs_2137526768 |
3 SubmittersRCV002028964RCV003157037 |
|
NM_000059.4(BRCA2):c.4310G>A (p.Ser1437Asn)
|
SNV Germline |
Chr13:32338665 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780780 |
rs_1403318277 |
2 SubmittersRCV002047884RCV003157038 |
|
NM_000059.4(BRCA2):c.3041A>G (p.Asn1014Ser)
|
SNV Germline |
Chr13:32337396 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774993 |
rs_2137492474 |
3 SubmittersRCV001928985RCV003156860 |
|
NM_000059.4(BRCA2):c.6502G>C (p.Gly2168Arg)
|
SNV Germline |
Chr13:32340857 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789547 |
rs_886040660 |
2 SubmittersRCV001980271RCV003156984 |
|
NM_000059.4(BRCA2):c.425+5G>C
|
SNV Germline |
Chr13:32325189 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA609084560 |
rs_1388671241 |
2 SubmittersRCV001980279 |
|
NM_000059.4(BRCA2):c.3766C>G (p.His1256Asp)
|
SNV Germline |
Chr13:32338121 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778239 |
rs_2137499777 |
2 SubmittersRCV002021321RCV003157070 |
|
NM_000059.4(BRCA2):c.4192G>C (p.Ala1398Pro)
|
SNV Germline |
Chr13:32338547 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780173 |
rs_876659902 |
3 SubmittersRCV001863254RCV003158996 |
|
NM_000059.4(BRCA2):c.4481G>T (p.Ser1494Ile)
|
SNV Germline |
Chr13:32338836 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781506 |
rs_1593902517 |
2 SubmittersRCV001892275RCV003159057 |
|
NM_000059.4(BRCA2):c.3919G>A (p.Glu1307Lys)
|
SNV Germline |
Chr13:32338274 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778820 |
rs_2137501256 |
2 SubmittersRCV001886432RCV003159059 |
|
NM_000059.4(BRCA2):c.1268T>A (p.Ile423Asn)
|
SNV Germline |
Chr13:32332746 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762363 |
rs_2137469393 |
2 SubmittersRCV001909444RCV003156839 |
|
NM_000059.4(BRCA2):c.2922C>A (p.Asp974Glu)
|
SNV Germline |
Chr13:32337277 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774211 |
rs_929538989 |
2 SubmittersRCV002047652RCV003157033 |
|
NM_000059.4(BRCA2):c.2212T>C (p.Cys738Arg)
|
SNV Germline |
Chr13:32336567 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770588 |
rs_2137484294 |
2 SubmittersRCV002047690RCV003157034 |
|
NM_000059.4(BRCA2):c.6798T>G (p.Asn2266Lys)
|
SNV Germline |
Chr13:32341153 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791341 |
rs_2137530753 |
2 SubmittersRCV001894573RCV003159032 |
|
NM_000059.4(BRCA2):c.5395G>A (p.Ala1799Thr)
|
SNV Germline |
Chr13:32339750 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785289 |
rs_2137517102 |
3 SubmittersRCV001954716RCV002344052 |
|
NM_000059.4(BRCA2):c.6797A>T (p.Asn2266Ile)
|
SNV Germline |
Chr13:32341152 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791338 |
rs_2072565540 |
2 SubmittersRCV001928816RCV003156859 |
|
NM_000059.4(BRCA2):c.9616C>T (p.Gln3206Ter)
|
SNV Germline |
Chr13:32397012 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387763665 |
rs_80359233 |
1 SubmittersRCV001993327 |
|
NM_000059.4(BRCA2):c.2845T>A (p.Tyr949Asn)
|
SNV Germline |
Chr13:32337200 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773906 |
rs_1328742081 |
2 SubmittersRCV002038170RCV003157047 |
|
NM_000059.4(BRCA2):c.1016A>T (p.Asp339Val)
|
SNV Germline |
Chr13:32332494 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761109 |
rs_1244056899 |
2 SubmittersRCV001926808RCV003156862 |
|
NM_000059.4(BRCA2):c.5880T>A (p.Cys1960Ter)
|
SNV Germline |
Chr13:32340235 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387787458 |
rs_368055906 |
1 SubmittersRCV002000196 |
|
NM_000059.4(BRCA2):c.4483G>T (p.Val1495Phe)
|
SNV Germline |
Chr13:32338838 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781512 |
rs_80358680 |
2 SubmittersRCV002000427RCV003156970 |
|
NM_000059.4(BRCA2):c.9257-2A>T
|
SNV Germline |
Chr13:32394687 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387760702 |
rs_886040954 |
1 SubmittersRCV001993195 |
|
NM_000059.4(BRCA2):c.4609G>T (p.Glu1537Ter)
|
SNV Germline |
Chr13:32338964 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387782004 |
rs_753244927 |
2 SubmittersRCV001993219RCV003170162 |
|
NM_000059.4(BRCA2):c.2883G>T (p.Gln961His)
|
SNV Germline |
Chr13:32337238 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774084 |
rs_11571655 |
2 SubmittersRCV001998652RCV003156962 |
|
NM_000059.4(BRCA2):c.3505A>C (p.Asn1169His)
|
SNV Germline |
Chr13:32337860 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776968 |
rs_2137497330 |
2 SubmittersRCV002035949RCV003157045 |
|
NM_000059.4(BRCA2):c.2382G>A (p.Met794Ile)
|
SNV Germline |
Chr13:32336737 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771851 |
rs_1555282646 |
4 SubmittersRCV002035960RCV003157046 |
|
NM_000059.4(BRCA2):c.5117A>G (p.Asn1706Ser)
|
SNV Germline |
Chr13:32339472 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247509061 |
rs_730881536 |
3 SubmittersRCV002006808RCV002346283 |
|
NM_000059.4(BRCA2):c.4139T>C (p.Ile1380Thr)
|
SNV Germline |
Chr13:32338494 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779411 |
rs_2137503277 |
3 SubmittersRCV001877227RCV003159036 |
|
NM_000059.4(BRCA2):c.6016A>G (p.Ser2006Gly)
|
SNV Germline |
Chr13:32340371 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787727 |
rs_2072544288 |
3 SubmittersRCV001899375RCV002359323 |
|
NM_000059.4(BRCA2):c.2769G>T (p.Lys923Asn)
|
SNV Germline |
Chr13:32337124 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773680 |
rs_2137489694 |
3 SubmittersRCV001878711RCV004804272RCV003159037 |
|
NM_000059.4(BRCA2):c.3086T>C (p.Met1029Thr)
|
SNV Germline |
Chr13:32337441 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775241 |
rs_2137493039 |
2 SubmittersRCV002000272RCV003156968 |
|
NM_000059.4(BRCA2):c.6167C>T (p.Ser2056Phe)
|
SNV Germline |
Chr13:32340522 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788349 |
rs_2137524924 |
3 SubmittersRCV001985747RCV002352661 |
|
NM_000059.4(BRCA2):c.6181G>C (p.Ala2061Pro)
|
SNV Germline |
Chr13:32340536 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788395 |
rs_1555284585 |
2 SubmittersRCV001983740RCV003156985 |
|
NM_000059.4(BRCA2):c.3563T>C (p.Ile1188Thr)
|
SNV Germline |
Chr13:32337918 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777295 |
rs_2137497887 |
3 SubmittersRCV002024539RCV003157073 |
|
NM_000059.4(BRCA2):c.6278A>G (p.His2093Arg)
|
SNV Germline |
Chr13:32340633 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387788985 |
rs_1218113889 |
4 SubmittersRCV001866589RCV002361098RCV004998971 |
|
NM_000059.4(BRCA2):c.3262C>A (p.Pro1088Thr)
|
SNV Germline |
Chr13:32337617 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776017 |
rs_80358572 |
2 SubmittersRCV001890310RCV003159064 |
|
NM_000059.4(BRCA2):c.4948A>T (p.Ser1650Cys)
|
SNV Germline |
Chr13:32339303 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783742 |
rs_2137511971 |
2 SubmittersRCV001956872RCV003156917 |
|
NM_000059.4(BRCA2):c.4208C>G (p.Thr1403Ser)
|
SNV Germline |
Chr13:32338563 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780250 |
rs_2072498862 |
2 SubmittersRCV001971689RCV003156957 |
|
NM_000059.4(BRCA2):c.3576T>A (p.Phe1192Leu)
|
SNV Germline |
Chr13:32337931 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777361 |
rs_2137497999 |
2 SubmittersRCV002018807RCV003156959 |
|
NM_000059.4(BRCA2):c.5030G>C (p.Arg1677Thr)
|
SNV Germline |
Chr13:32339385 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387783980 |
rs_375304428 |
3 SubmittersRCV001999562RCV003157042RCV003151880 |
|
NM_000059.4(BRCA2):c.8176T>A (p.Tyr2726Asn)
|
SNV Germline |
Chr13:32363378 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387749624 |
rs_2137581441 |
1 SubmittersRCV002004210 |
|
NM_000059.4(BRCA2):c.3233T>C (p.Val1078Ala)
|
SNV Germline |
Chr13:32337588 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775928 |
rs_1270386176 |
2 SubmittersRCV001976907RCV003156965 |
|
NM_000059.4(BRCA2):c.6055A>G (p.Asn2019Asp)
|
SNV Germline |
Chr13:32340410 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787899 |
rs_2137523721 |
3 SubmittersRCV001874718RCV002359327 |
|
NM_000059.4(BRCA2):c.5891A>T (p.Lys1964Met)
|
SNV Germline |
Chr13:32340246 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787479 |
rs_80358821 |
3 SubmittersRCV001874732RCV002359328 |
|
NM_000059.4(BRCA2):c.4750G>A (p.Glu1584Lys)
|
SNV Germline |
Chr13:32339105 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783081 |
rs_745632282 |
2 SubmittersRCV002002945RCV003156975 |
|
NM_000059.4(BRCA2):c.1118A>C (p.Gln373Pro)
|
SNV Germline |
Chr13:32332596 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387761649 |
rs_2137467818 |
4 SubmittersRCV002011520RCV002441208RCV004011131 |
|
NM_000059.4(BRCA2):c.3996T>A (p.His1332Gln)
|
SNV Germline |
Chr13:32338351 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778983 |
rs_1593901143 |
2 SubmittersRCV002009641RCV003157049 |
|
NM_000059.4(BRCA2):c.1139G>A (p.Ser380Asn)
|
SNV Germline |
Chr13:32332617 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761785 |
rs_780798665 |
2 SubmittersRCV001896579RCV003156827 |
|
NM_000059.4(BRCA2):c.6112C>G (p.His2038Asp)
|
SNV Germline |
Chr13:32340467 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788134 |
rs_587778123 |
3 SubmittersRCV001918046RCV002359383 |
|
NM_000059.4(BRCA2):c.6404A>G (p.Asn2135Ser)
|
SNV Germline |
Chr13:32340759 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789244 |
rs_2137527179 |
2 SubmittersRCV001949882RCV003156866 |
|
NM_000059.4(BRCA2):c.6199T>G (p.Ser2067Ala)
|
SNV Germline |
Chr13:32340554 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788832 |
rs_143806921 |
2 SubmittersRCV001933593RCV003156867 |
|
NM_000059.4(BRCA2):c.2215C>T (p.His739Tyr)
|
SNV Germline |
Chr13:32336570 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770621 |
rs_1555282536 |
2 SubmittersRCV002011491RCV003157053 |
|
NM_000059.4(BRCA2):c.2794G>C (p.Asp932His)
|
SNV Germline |
Chr13:32337149 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387773732 |
rs_2137489980 |
4 SubmittersRCV001880451RCV002440921RCV003316852 |
|
NM_000059.4(BRCA2):c.4538A>C (p.Asp1513Ala)
|
SNV Germline |
Chr13:32338893 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387781730 |
rs_1566230577 |
3 SubmittersRCV001870195RCV003159000RCV005232684 |
|
NM_000059.4(BRCA2):c.3850A>G (p.Ser1284Gly)
|
SNV Germline |
Chr13:32338205 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778607 |
rs_2137500602 |
2 SubmittersRCV001895804RCV003156789 |
|
NM_000059.4(BRCA2):c.4715C>A (p.Ala1572Asp)
|
SNV Germline |
Chr13:32339070 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782955 |
rs_2072511378 |
2 SubmittersRCV001895837RCV003156791 |
|
NM_000059.4(BRCA2):c.5489C>G (p.Ser1830Cys)
|
SNV Germline |
Chr13:32339844 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785753 |
rs_1593905616 |
2 SubmittersRCV001943043RCV003156848 |
|
NM_000059.4(BRCA2):c.8134G>C (p.Asp2712His)
|
SNV Germline |
Chr13:32363336 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387749452 |
rs_80359056 |
2 SubmittersRCV001957945RCV003167421 |
|
NM_000059.4(BRCA2):c.826G>T (p.Val276Leu)
|
SNV Germline |
Chr13:32332304 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760445 |
rs_1485423178 |
2 SubmittersRCV001879139RCV003159039 |
|
NM_000059.4(BRCA2):c.4219G>T (p.Glu1407Ter)
|
SNV Germline |
Chr13:32338574 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387780296 |
rs_2137504114 |
1 SubmittersRCV001915479 |
|
NM_000059.4(BRCA2):c.3097G>T (p.Asp1033Tyr)
|
SNV Germline |
Chr13:32337452 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775314 |
rs_780279081 |
2 SubmittersRCV001994184RCV003156971 |
|
NM_000059.4(BRCA2):c.6077C>T (p.Thr2026Ile)
|
SNV Germline |
Chr13:32340432 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787997 |
rs_1228610692 |
2 SubmittersRCV002016406RCV003157050 |
|
NM_000059.4(BRCA2):c.2408A>G (p.Tyr803Cys)
|
SNV Germline |
Chr13:32336763 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772017 |
rs_1566226664 |
3 SubmittersRCV002041535RCV002458643 |
|
NM_000059.4(BRCA2):c.7054C>A (p.Pro2352Thr)
|
SNV Germline |
Chr13:32354907 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA6941055 |
rs_776714935 |
3 SubmittersRCV001877784RCV002370418RCV003464194 |
|
NM_000059.4(BRCA2):c.5384A>C (p.Lys1795Thr)
|
SNV Germline |
Chr13:32339739 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387785220 |
rs_1566232357 |
3 SubmittersRCV001900637RCV003159045RCV005620317 |
|
NM_000059.4(BRCA2):c.4884A>T (p.Lys1628Asn)
|
SNV Germline |
Chr13:32339239 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783504 |
rs_2072514968 |
2 SubmittersRCV001925089RCV003156829 |
|
NM_000059.4(BRCA2):c.3365G>A (p.Gly1122Glu)
|
SNV Germline |
Chr13:32337720 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940692 |
rs_532871047 |
3 SubmittersRCV001938863RCV004010923RCV003156869 |
|
NM_000059.4(BRCA2):c.7150C>T (p.Gln2384Ter)
|
SNV Germline |
Chr13:32355003 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387739168 |
rs_55977008 |
1 SubmittersRCV001946957 |
|
NM_000059.4(BRCA2):c.8203C>A (p.Pro2735Thr)
|
SNV Germline |
Chr13:32363405 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387749741 |
rs_1247198934 |
3 SubmittersRCV002005837RCV004946993RCV005238141 |
|
NM_000059.4(BRCA2):c.3381T>G (p.Phe1127Leu)
|
SNV Germline |
Chr13:32337736 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776429 |
rs_1057522933 |
3 SubmittersRCV002046610RCV002307767RCV003158983 |
|
NM_000059.4(BRCA2):c.6377G>C (p.Cys2126Ser)
|
SNV Germline |
Chr13:32340732 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789184 |
rs_2137526863 |
2 SubmittersRCV002029969RCV003158977 |
|
NM_000059.4(BRCA2):c.3171G>C (p.Lys1057Asn)
|
SNV Germline |
Chr13:32337526 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775808 |
rs_2137493933 |
2 SubmittersRCV002041448RCV003158979 |
|
NM_000059.4(BRCA2):c.5348A>T (p.Lys1783Ile)
|
SNV Germline |
Chr13:32339703 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785026 |
rs_2137516609 |
2 SubmittersRCV001900501RCV003159044 |
|
NM_000059.4(BRCA2):c.8731G>A (p.Ala2911Thr)
|
SNV Germline |
Chr13:32376768 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387755004 |
rs_2137613329 |
2 SubmittersRCV001883032RCV004040610 |
|
NM_000059.4(BRCA2):c.7806-2A>C
|
SNV Germline |
Chr13:32362521 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387746909 |
rs_81002836 |
3 SubmittersRCV001951102RCV002407186RCV003136374 |
|
NM_000059.4(BRCA2):c.6773A>G (p.Glu2258Gly)
|
SNV Germline |
Chr13:32341128 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791228 |
rs_2137530584 |
2 SubmittersRCV002028130RCV003156977 |
|
NM_000059.4(BRCA2):c.3025T>C (p.Phe1009Leu)
|
SNV Germline |
Chr13:32337380 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774881 |
rs_2137492339 |
4 SubmittersRCV002028173RCV002441157 |
|
NM_000059.4(BRCA2):c.4780A>G (p.Met1594Val)
|
SNV Germline |
Chr13:32339135 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783201 |
rs_2137510137 |
2 SubmittersRCV002016825RCV003157058 |
|
NM_000059.4(BRCA2):c.9342T>G (p.Ile3114Met)
|
SNV Germline |
Chr13:32394774 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761055 |
rs_1298195804 |
2 SubmittersRCV002370355RCV002044328 |
|
NM_000059.4(BRCA2):c.3945A>T (p.Arg1315Ser)
|
SNV Germline |
Chr13:32338300 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778879 |
rs_2137501449 |
3 SubmittersRCV001986910RCV003156996 |
|
NM_000059.4(BRCA2):c.1690C>T (p.Pro564Ser)
|
SNV Germline |
Chr13:32333168 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765195 |
rs_2137473929 |
2 SubmittersRCV002036181RCV003157081 |
|
NM_000059.4(BRCA2):c.3145A>G (p.Asn1049Asp)
|
SNV Germline |
Chr13:32337500 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775755 |
rs_2137493626 |
2 SubmittersRCV002048809RCV003157084 |
|
NM_000059.4(BRCA2):c.1637G>A (p.Cys546Tyr)
|
SNV Germline |
Chr13:32333115 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764948 |
rs_2137473440 |
2 SubmittersRCV001871486RCV003156794 |
|
NM_000059.4(BRCA2):c.1287A>C (p.Leu429Phe)
|
SNV Germline |
Chr13:32332765 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762459 |
rs_80359782 |
2 SubmittersRCV001968682RCV003156925 |
|
NM_000059.4(BRCA2):c.3179G>T (p.Ser1060Ile)
|
SNV Germline |
Chr13:32337534 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775824 |
rs_2072474262 |
3 SubmittersRCV001991392RCV003157000 |
|
NM_000059.4(BRCA2):c.4885A>T (p.Thr1629Ser)
|
SNV Germline |
Chr13:32339240 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783507 |
rs_879255455 |
2 SubmittersRCV002028287RCV003157001 |
|
NM_000059.4(BRCA2):c.5060T>A (p.Leu1687His)
|
SNV Germline |
Chr13:32339415 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784038 |
rs_2072519361 |
2 SubmittersRCV002031876RCV003157085 |
|
NM_000059.4(BRCA2):c.3269T>G (p.Met1090Arg)
|
SNV Germline |
Chr13:32337624 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776045 |
rs_2137494922 |
2 SubmittersRCV001875169RCV003159042 |
|
NM_000059.4(BRCA2):c.7436-2A>C
|
SNV Germline |
Chr13:32356426 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387742928 |
rs_397507917 |
2 SubmittersRCV001896816RCV003478893 |
|
NM_000059.4(BRCA2):c.4972C>G (p.Gln1658Glu)
|
SNV Germline |
Chr13:32339327 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783830 |
rs_886038114 |
2 SubmittersRCV002050567RCV003158980 |
|
NM_000059.4(BRCA2):c.4277C>G (p.Thr1426Arg)
|
SNV Germline |
Chr13:32338632 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780591 |
rs_748591104 |
2 SubmittersRCV002041711RCV003158981 |
|
NM_000059.4(BRCA2):c.1498G>A (p.Gly500Ser)
|
SNV Germline |
Chr13:32332976 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764475 |
rs_1233016217 |
3 SubmittersRCV001871202RCV003159049 |
|
NM_000059.4(BRCA2):c.7969A>G (p.Lys2657Glu)
|
SNV Germline |
Chr13:32362686 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387747324 |
rs_2137577993 |
2 SubmittersRCV001911968RCV004946804 |
|
NM_000059.4(BRCA2):c.3193A>G (p.Ile1065Val)
|
SNV Germline |
Chr13:32337548 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387775848 |
rs_2137494162 |
3 SubmittersRCV001931601RCV003156871RCV004719202 |
|
NM_000059.4(BRCA2):c.4352A>T (p.Asp1451Val)
|
SNV Germline |
Chr13:32338707 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780934 |
rs_80358671 |
2 SubmittersRCV002001177RCV003156982 |
|
NM_000059.4(BRCA2):c.2818C>G (p.Gln940Glu)
|
SNV Germline |
Chr13:32337173 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773780 |
rs_80358532 |
2 SubmittersRCV002026443RCV003157063 |
|
NM_000059.4(BRCA2):c.7623T>G (p.Tyr2541Ter)
|
SNV Germline |
Chr13:32357747 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387744771 |
rs_2137566100 |
1 SubmittersRCV001949359 |
|
NM_000059.4(BRCA2):c.8210T>G (p.Leu2737Ter)
|
SNV Germline |
Chr13:32363412 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387749771 |
rs_1566245715 |
1 SubmittersRCV001956134 |
|
NM_000059.4(BRCA2):c.3851G>A (p.Ser1284Asn)
|
SNV Germline |
Chr13:32338206 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778615 |
rs_2137500607 |
2 SubmittersRCV002030466RCV003156981 |
|
NM_000059.4(BRCA2):c.5205A>T (p.Lys1735Asn)
|
SNV Germline |
Chr13:32339560 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784603 |
rs_1131692115 |
2 SubmittersRCV002045853RCV003157061 |
|
NM_000059.4(BRCA2):c.1162G>A (p.Val388Ile)
|
SNV Germline |
Chr13:32332640 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761917 |
rs_876660239 |
2 SubmittersRCV002045858RCV003157062 |
|
NM_000059.4(BRCA2):c.510T>G (p.Phe170Leu)
|
SNV Germline |
Chr13:32326276 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757724 |
rs_2137450631 |
2 SubmittersRCV002026104RCV004046771 |
|
NM_000059.4(BRCA2):c.2902G>A (p.Gly968Ser)
|
SNV Germline |
Chr13:32337257 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387774172 |
rs_2072467550 |
3 SubmittersRCV002440928RCV001904519 |
|
NM_000059.4(BRCA2):c.5103A>T (p.Gln1701His)
|
SNV Germline |
Chr13:32339458 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784125 |
rs_878853587 |
2 SubmittersRCV003159008RCV001904549 |
|
NM_000059.4(BRCA2):c.4033G>C (p.Asp1345His)
|
SNV Germline |
Chr13:32338388 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387779071 |
rs_1555283516 |
3 SubmittersRCV003159009RCV001904702 |
|
NM_000059.4(BRCA2):c.365C>G (p.Thr122Ser)
|
SNV Germline |
Chr13:32325124 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387756621 |
rs_2137446441 |
2 SubmittersRCV001872409RCV002268578 |
|
NM_000059.4(BRCA2):c.808T>A (p.Ser270Thr)
|
SNV Germline |
Chr13:32332286 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760383 |
rs_1566222098 |
2 SubmittersRCV001883979RCV003156797 |
|
NM_000059.4(BRCA2):c.1935A>C (p.Arg645Ser)
|
SNV Germline |
Chr13:32336290 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768331 |
rs_1555282366 |
2 SubmittersRCV001884126RCV003156798 |
|
NM_000059.4(BRCA2):c.6032T>C (p.Phe2011Ser)
|
SNV Germline |
Chr13:32340387 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787792 |
rs_2137523459 |
2 SubmittersRCV001969791RCV003156882 |
|
NM_000059.4(BRCA2):c.2516A>G (p.Tyr839Cys)
|
SNV Germline |
Chr13:32336871 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772455 |
rs_2137487301 |
3 SubmittersRCV001961735RCV002425346 |
|
NM_000059.4(BRCA2):c.2933A>C (p.Asn978Thr)
|
SNV Germline |
Chr13:32337288 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774255 |
rs_775890004 |
3 SubmittersRCV001961736RCV003156932 |
|
NM_000059.4(BRCA2):c.3974C>G (p.Thr1325Ser)
|
SNV Germline |
Chr13:32338329 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778941 |
rs_1593901084 |
2 SubmittersRCV002019816RCV003157010 |
|
NM_000059.4(BRCA2):c.4165T>A (p.Phe1389Ile)
|
SNV Germline |
Chr13:32338520 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780057 |
rs_1409088355 |
2 SubmittersRCV001996121RCV003157012 |
|
NM_000059.4(BRCA2):c.1439G>T (p.Cys480Phe)
|
SNV Germline |
Chr13:32332917 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764295 |
rs_587782648 |
2 SubmittersRCV001899790RCV003159012 |
|
NM_000059.4(BRCA2):c.1527A>C (p.Arg509Ser)
|
SNV Germline |
Chr13:32333005 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764580 |
rs_28657708 |
2 SubmittersRCV003159014RCV001931968 |
|
NM_000059.4(BRCA2):c.1924T>A (p.Ser642Thr)
|
SNV Germline |
Chr13:32336279 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768265 |
rs_2137481857 |
3 SubmittersRCV001939031RCV002407105 |
|
NM_000059.4(BRCA2):c.8486A>C (p.Gln2829Pro)
|
SNV Germline |
Chr13:32370556 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387752646 |
rs_80359100 |
2 SubmittersRCV002005945RCV004999591 |
|
NM_000059.4(BRCA2):c.5921C>G (p.Thr1974Ser)
|
SNV Germline |
Chr13:32340276 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787535 |
rs_55730620 |
2 SubmittersRCV002008291RCV003156979 |
|
NM_000059.4(BRCA2):c.4148A>T (p.Asp1383Val)
|
SNV Germline |
Chr13:32338503 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779985 |
rs_2137503361 |
2 SubmittersRCV002022968RCV003157059 |
|
NM_000059.4(BRCA2):c.2672T>C (p.Val891Ala)
|
SNV Germline |
Chr13:32337027 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773390 |
rs_1593897497 |
2 SubmittersRCV001885983RCV003159051 |
|
NM_000059.4(BRCA2):c.4501A>G (p.Asn1501Asp)
|
SNV Germline |
Chr13:32338856 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387781581 |
rs_1555283811 |
4 SubmittersRCV001889741RCV003159052RCV004009251 |
|
NM_000059.4(BRCA2):c.6589A>G (p.Thr2197Ala)
|
SNV Germline |
Chr13:32340944 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387790009 |
rs_2137528860 |
4 SubmittersRCV001899023RCV003156833RCV005361806 |
|
NM_000059.4(BRCA2):c.3922G>C (p.Glu1308Gln)
|
SNV Germline |
Chr13:32338277 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778830 |
rs_80358638 |
3 SubmittersRCV001948557RCV002370551 |
|
NM_000059.4(BRCA2):c.6041T>C (p.Val2014Ala)
|
SNV Germline |
Chr13:32340396 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787836 |
rs_2137523581 |
2 SubmittersRCV001959951RCV003156875 |
|
NM_000059.4(BRCA2):c.6706G>T (p.Glu2236Ter)
|
SNV Germline |
Chr13:32341061 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387790972 |
rs_41293503 |
1 SubmittersRCV001951296 |
|
NM_000059.4(BRCA2):c.3038C>G (p.Ser1013Ter)
|
SNV Germline |
Chr13:32337393 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387774968 |
rs_2137492443 |
2 SubmittersRCV002441106RCV001982960 |
|
NM_000059.4(BRCA2):c.9226G>A (p.Gly3076Arg)
|
SNV Germline |
Chr13:32380115 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387758500 |
rs_1566253644 |
1 SubmittersRCV002033601 |
|
NM_000059.4(BRCA2):c.2347G>A (p.Val783Ile)
|
SNV Germline |
Chr13:32336702 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771616 |
rs_1566226546 |
4 SubmittersRCV002047264RCV002256849 |
|
NM_000059.4(BRCA2):c.6408A>T (p.Leu2136Phe)
|
SNV Germline |
Chr13:32340763 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789254 |
rs_2137527249 |
2 SubmittersRCV002047338RCV003158993 |
|
NM_000059.4(BRCA2):c.1567C>G (p.His523Asp)
|
SNV Germline |
Chr13:32333045 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764717 |
rs_2072416501 |
3 SubmittersRCV001918476RCV002397891 |
|
NM_000059.4(BRCA2):c.1469G>A (p.Gly490Glu)
|
SNV Germline |
Chr13:32332947 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764390 |
rs_2137471813 |
3 SubmittersRCV001903512RCV002255700 |
|
NM_000059.4(BRCA2):c.5282G>T (p.Gly1761Val)
|
SNV Germline |
Chr13:32339637 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784766 |
rs_80358752 |
3 SubmittersRCV001959797RCV003156873 |
|
NM_000059.4(BRCA2):c.6211A>G (p.Ser2071Gly)
|
SNV Germline |
Chr13:32340566 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788855 |
rs_80358860 |
3 SubmittersRCV001981939RCV003156874 |
|
NM_000059.4(BRCA2):c.7822C>A (p.Pro2608Thr)
|
SNV Germline |
Chr13:32362539 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387746987 |
rs_879255308 |
3 SubmittersRCV001959799RCV003167358RCV005601839 |
|
NM_000059.4(BRCA2):c.8748C>A (p.Tyr2916Ter)
|
SNV Germline |
Chr13:32376785 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387755074 |
rs_2137613497 |
1 SubmittersRCV001959079 |
|
NM_000059.4(BRCA2):c.8671A>C (p.Thr2891Pro)
|
SNV Germline |
Chr13:32376708 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387754743 |
rs_2137612680 |
3 SubmittersRCV002033510RCV004946997RCV004011071 |
|
NM_000059.4(BRCA2):c.9097A>G (p.Thr3033Ala)
|
SNV Germline |
Chr13:32379893 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757674 |
rs_766308212 |
2 SubmittersRCV002033552RCV002443004 |
|
NM_000059.4(BRCA2):c.6027A>C (p.Gln2009His)
|
SNV Germline |
Chr13:32340382 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787773 |
rs_1131692109 |
2 SubmittersRCV002029314RCV003157066 |
|
NM_000059.4(BRCA2):c.4943C>A (p.Ala1648Glu)
|
SNV Germline |
Chr13:32339298 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783719 |
rs_1449458592 |
3 SubmittersRCV002044792RCV003158991 |
|
NM_000059.4(BRCA2):c.7406C>T (p.Thr2469Ile)
|
SNV Germline |
Chr13:32355259 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387741888 |
rs_2137558833 |
2 SubmittersRCV002044892RCV002386598 |
|
NM_000059.4(BRCA2):c.4036A>G (p.Thr1346Ala)
|
SNV Germline |
Chr13:32338391 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387779079 |
rs_2137502300 |
4 SubmittersRCV001981453RCV002352627RCV003149011 |
|
NM_000059.4(BRCA2):c.475+1G>C
|
SNV Germline |
Chr13:32326151 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387757261 |
rs_81002797 |
1 SubmittersRCV001981458 |
|
NM_000059.4(BRCA2):c.1528G>A (p.Glu510Lys)
|
SNV Germline |
Chr13:32333006 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764583 |
rs_80358438 |
2 SubmittersRCV001975639RCV003156937 |
|
NM_000059.4(BRCA2):c.4649A>T (p.Glu1550Val)
|
SNV Germline |
Chr13:32339004 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782186 |
rs_876660887 |
2 SubmittersRCV002003985RCV003157018 |
|
NM_000059.4(BRCA2):c.8906T>C (p.Val2969Ala)
|
SNV Germline |
Chr13:32379468 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757247 |
rs_2137620350 |
2 SubmittersRCV001902100RCV003299064 |
|
NM_000059.4(BRCA2):c.5059C>G (p.Leu1687Val)
|
SNV Germline |
Chr13:32339414 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784036 |
rs_1408726129 |
3 SubmittersRCV002334758RCV001902117 |
|
NM_000059.4(BRCA2):c.2963A>T (p.Asp988Val)
|
SNV Germline |
Chr13:32337318 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774469 |
rs_876659509 |
5 SubmittersRCV001902230RCV004804263RCV002256853 |
|
NM_000059.4(BRCA2):c.2721G>C (p.Lys907Asn)
|
SNV Germline |
Chr13:32337076 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773571 |
rs_2137489215 |
2 SubmittersRCV001891246RCV003156805 |
|
NM_000059.4(BRCA2):c.9487A>T (p.Lys3163Ter)
|
SNV Germline |
Chr13:32394919 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387761842 |
rs_2137654496 |
1 SubmittersRCV001930942 |
|
NM_000059.4(BRCA2):c.2855C>T (p.Ala952Val)
|
SNV Germline |
Chr13:32337210 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940636 |
rs_761934778 |
3 SubmittersRCV001958323RCV003156891 |
|
NM_000059.4(BRCA2):c.5618T>C (p.Val1873Ala)
|
SNV Germline |
Chr13:32339973 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786103 |
rs_2137519186 |
2 SubmittersRCV002051387RCV003158986 |
|
NM_000059.4(BRCA2):c.6710A>G (p.Asp2237Gly)
|
SNV Germline |
Chr13:32341065 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790994 |
rs_2137530022 |
2 SubmittersRCV002042252RCV003158987 |
|
NM_000059.4(BRCA2):c.4978C>T (p.Pro1660Ser)
|
SNV Germline |
Chr13:32339333 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783854 |
rs_2137512328 |
3 SubmittersRCV001906742RCV002265045RCV003156836 |
|
NM_000059.4(BRCA2):c.4220A>T (p.Glu1407Val)
|
SNV Germline |
Chr13:32338575 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780304 |
rs_1593901726 |
2 SubmittersRCV001944315RCV003156876 |
|
NM_000059.4(BRCA2):c.1537A>T (p.Lys513Ter)
|
SNV Germline |
Chr13:32333015 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387764613 |
rs_1555281938 |
2 SubmittersRCV001962416RCV002397955 |
|
NM_000059.4(BRCA2):c.4231G>T (p.Ala1411Ser)
|
SNV Germline |
Chr13:32338586 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780355 |
rs_1202062406 |
2 SubmittersRCV001965990RCV003156906 |
|
NM_000059.4(BRCA2):c.6485A>C (p.Lys2162Thr)
|
SNV Germline |
Chr13:32340840 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789465 |
rs_11571660 |
2 SubmittersRCV001985565RCV003156908 |
|
NM_000059.4(BRCA2):c.4454T>A (p.Ile1485Lys)
|
SNV Germline |
Chr13:32338809 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781384 |
rs_1555283790 |
2 SubmittersRCV002026957RCV003157069 |
|
NM_000059.4(BRCA2):c.6305T>G (p.Val2102Gly)
|
SNV Germline |
Chr13:32340660 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789038 |
rs_2137526201 |
2 SubmittersRCV001952806RCV003156877 |
|
NM_000059.4(BRCA2):c.1458G>C (p.Gln486His)
|
SNV Germline |
Chr13:32332936 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764359 |
rs_61753156 |
2 SubmittersRCV001983255RCV003156905 |
|
NM_000059.4(BRCA2):c.5402C>G (p.Pro1801Arg)
|
SNV Germline |
Chr13:32339757 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785329 |
rs_1060502429 |
3 SubmittersRCV001978202RCV002344177 |
|
NM_000059.4(BRCA2):c.3683A>T (p.Asn1228Ile)
|
SNV Germline |
Chr13:32338038 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778014 |
rs_786202838 |
3 SubmittersRCV001863470RCV002458657 |
|
NM_000059.4(BRCA2):c.5746C>G (p.His1916Asp)
|
SNV Germline |
Chr13:32340101 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786986 |
rs_2137520497 |
2 SubmittersRCV001863473RCV003158997 |
|
NM_000059.4(BRCA2):c.2283T>A (p.Tyr761Ter)
|
SNV Germline |
Chr13:32336638 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387771150 |
rs_925988904 |
2 SubmittersRCV001917330RCV005247298 |
|
NM_000059.4(BRCA2):c.3684T>A (p.Asn1228Lys)
|
SNV Germline |
Chr13:32338039 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778016 |
rs_2137498989 |
2 SubmittersRCV001909599RCV003156840 |
|
NM_000059.4(BRCA2):c.2174A>C (p.Lys725Thr)
|
SNV Germline |
Chr13:32336529 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770322 |
rs_2137483940 |
2 SubmittersRCV002005094RCV003156943 |
|
NM_000059.4(BRCA2):c.9508G>A (p.Asp3170Asn)
|
SNV Germline |
Chr13:32396904 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762854 |
rs_2137658723 |
2 SubmittersRCV002005114RCV005520644 |
|
NM_000059.4(BRCA2):c.1204G>A (p.Gly402Ser)
|
SNV Germline |
Chr13:32332682 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762069 |
rs_878853556 |
2 SubmittersRCV001911271RCV003156807 |
|
NM_000059.4(BRCA2):c.5254C>A (p.His1752Asn)
|
SNV Germline |
Chr13:32339609 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784710 |
rs_80358749 |
3 SubmittersRCV001896407RCV003156809 |
|
NM_000059.4(BRCA2):c.5774A>G (p.Gln1925Arg)
|
SNV Germline |
Chr13:32340129 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787116 |
rs_2137520813 |
3 SubmittersRCV001896410RCV003156810 |
|
NM_000059.4(BRCA2):c.2995C>G (p.Pro999Ala)
|
SNV Germline |
Chr13:32337350 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774637 |
rs_2137492059 |
2 SubmittersRCV001912409RCV003156811 |
|
NM_000059.4(BRCA2):c.5028T>A (p.Ser1676Arg)
|
SNV Germline |
Chr13:32339383 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940842 |
rs_762458631 |
4 SubmittersRCV001896432RCV003492695RCV003156812 |
|
NM_000059.4(BRCA2):c.3320A>G (p.Gln1107Arg)
|
SNV Germline |
Chr13:32337675 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776236 |
rs_1593899174 |
2 SubmittersRCV002011841RCV003156895 |
|
NM_000059.4(BRCA2):c.4686A>T (p.Gln1562His)
|
SNV Germline |
Chr13:32339041 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782840 |
rs_28897730 |
2 SubmittersRCV002011916RCV003156896 |
|
NM_000059.4(BRCA2):c.2968A>C (p.Met990Leu)
|
SNV Germline |
Chr13:32337323 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774509 |
rs_876660083 |
3 SubmittersRCV001973731RCV003156948 |
|
NM_000059.4(BRCA2):c.1631C>G (p.Thr544Ser)
|
SNV Germline |
Chr13:32333109 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764934 |
rs_80358448 |
2 SubmittersRCV001951617RCV003156903 |
|
NM_000059.4(BRCA2):c.5261A>T (p.Asp1754Val)
|
SNV Germline |
Chr13:32339616 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784725 |
rs_772772727 |
4 SubmittersRCV001963335RCV004774564RCV003156904 |
|
NM_000059.4(BRCA2):c.1018G>A (p.Glu340Lys)
|
SNV Germline |
Chr13:32332496 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761114 |
rs_2137466889 |
2 SubmittersRCV002021207RCV003157067 |
|
NM_000059.4(BRCA2):c.5697T>A (p.Asp1899Glu)
|
SNV Germline |
Chr13:32340052 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786704 |
rs_786203565 |
2 SubmittersRCV001917177RCV003159056 |
|
NM_000059.4(BRCA2):c.6454T>C (p.Ser2152Pro)
|
SNV Germline |
Chr13:32340809 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789337 |
rs_1555284705 |
2 SubmittersRCV001954174RCV003156909 |
|
NM_000059.4(BRCA2):c.3670G>A (p.Gly1224Ser)
|
SNV Germline |
Chr13:32338025 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777990 |
rs_2137498845 |
3 SubmittersRCV001968383RCV003156910 |
|
NM_000059.4(BRCA2):c.3001T>G (p.Ser1001Ala)
|
SNV Germline |
Chr13:32337356 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774676 |
rs_2137492111 |
3 SubmittersRCV002009966RCV003156986 |
|
NM_000059.4(BRCA2):c.516+4A>G
|
SNV Germline |
Chr13:32326286 |
Pathogenic/Likely pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA2573149269 |
rs_2137450725 |
3 SubmittersRCV002009968RCV002335026RCV005232758 |
|
NM_000059.4(BRCA2):c.8344A>G (p.Ser2782Gly)
|
SNV Germline |
Chr13:32370414 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387752363 |
rs_2137596450 |
3 SubmittersRCV002010043RCV002407256RCV004571923 |
|
NM_000059.4(BRCA2):c.5330A>C (p.Lys1777Thr)
|
SNV Germline |
Chr13:32339685 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784929 |
rs_2137516417 |
2 SubmittersRCV001892452RCV003159067 |
|
NM_000059.4(BRCA2):c.4009G>T (p.Asp1337Tyr)
|
SNV Germline |
Chr13:32338364 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779012 |
rs_2137502029 |
2 SubmittersRCV001892475RCV003159068 |
|
NM_000059.4(BRCA2):c.1012G>C (p.Ala338Pro)
|
SNV Germline |
Chr13:32332490 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761094 |
rs_80358396 |
2 SubmittersRCV001920316RCV003156846 |
|
NM_000059.4(BRCA2):c.5477C>T (p.Ala1826Val)
|
SNV Germline |
Chr13:32339832 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785705 |
rs_2137517885 |
2 SubmittersRCV001866728RCV003158998 |
|
NM_000059.4(BRCA2):c.1343G>T (p.Arg448Leu)
|
SNV Germline |
Chr13:32332821 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762742 |
rs_80358423 |
2 SubmittersRCV001890382RCV003159065 |
|
NM_000059.4(BRCA2):c.1178G>A (p.Cys393Tyr)
|
SNV Germline |
Chr13:32332656 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940497 |
rs_766690741 |
2 SubmittersRCV001922280RCV003159066 |
|
NM_000059.4(BRCA2):c.1852G>T (p.Ala618Ser)
|
SNV Germline |
Chr13:32333330 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766393 |
rs_80358475 |
2 SubmittersRCV001916406RCV003156843 |
|
NM_000059.4(BRCA2):c.5026A>G (p.Ser1676Gly)
|
SNV Germline |
Chr13:32339381 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387783973 |
rs_786203719 |
4 SubmittersRCV001928040RCV002334869RCV004010859 |
|
NM_000059.4(BRCA2):c.4196G>T (p.Cys1399Phe)
|
SNV Germline |
Chr13:32338551 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940759 |
rs_764939265 |
3 SubmittersRCV001962823RCV003156878 |
|
NM_000059.4(BRCA2):c.1421T>G (p.Leu474Arg)
|
SNV Germline |
Chr13:32332899 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764233 |
rs_431825281 |
2 SubmittersRCV001934006RCV003156879 |
|
NM_000059.4(BRCA2):c.6319C>G (p.Pro2107Ala)
|
SNV Germline |
Chr13:32340674 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789061 |
rs_1593908231 |
3 SubmittersRCV003156919RCV001997991 |
|
NM_000059.4(BRCA2):c.4184C>T (p.Ala1395Val)
|
SNV Germline |
Chr13:32338539 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387780139 |
rs_1782230124 |
4 SubmittersRCV002024933RCV003157075RCV003323973 |
|
NM_000059.4(BRCA2):c.1917G>T (p.Leu639Phe)
|
SNV Germline |
Chr13:32336272 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768236 |
rs_779226644 |
2 SubmittersRCV001980968RCV003156988 |
|
NM_000059.4(BRCA2):c.2624T>C (p.Val875Ala)
|
SNV Germline |
Chr13:32336979 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773207 |
rs_2137488298 |
3 SubmittersRCV001981158RCV002425387 |
|
NM_000059.4(BRCA2):c.3347C>A (p.Thr1116Asn)
|
SNV Germline |
Chr13:32337702 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified |
Criteria Provided Conflicting Classifications |
CA387776329 |
rs_2072478227 |
5 SubmittersRCV001981190RCV003156992RCV003478919RCV004801123 |
|
NM_000059.4(BRCA2):c.5506A>C (p.Asn1836His)
|
SNV Germline |
Chr13:32339861 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785817 |
rs_2137518120 |
3 SubmittersRCV002024812RCV002346315 |
|
NM_000059.4(BRCA2):c.3580G>A (p.Gly1194Ser)
|
SNV Germline |
Chr13:32337935 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777383 |
rs_2137498023 |
3 SubmittersRCV002024823RCV002454311 |
|
NM_000059.4(BRCA2):c.67+14T>C
|
SNV Germline |
Chr13:32316541 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA2573149264 |
rs_2138698697 |
2 SubmittersRCV003530213RCV002052294 |
|
NM_000059.4(BRCA2):c.68-14T>A
|
SNV Germline |
Chr13:32319063 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA2573149272 |
rs_2138703427 |
2 SubmittersRCV003530214RCV002052296 |
|
NM_000059.4(BRCA2):c.3868T>A (p.Cys1290Ser)
|
SNV Germline |
Chr13:32338223 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387778695 |
rs_2137500806 |
2 SubmittersRCV003157086RCV002052298 |
|
NM_000059.4(BRCA2):c.5472T>G (p.Asn1824Lys)
|
SNV Germline |
Chr13:32339827 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940877 |
rs_756797448 |
2 SubmittersRCV002052300RCV003157087 |
|
NM_000059.4(BRCA2):c.5985C>A (p.Asn1995Lys)
|
SNV Germline |
Chr13:32340340 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787650 |
rs_374620036 |
3 SubmittersRCV002052302RCV003157088 |
|
NM_000059.4(BRCA2):c.1099G>A (p.Asp367Asn)
|
SNV Germline |
Chr13:32332577 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761542 |
rs_2137467635 |
2 SubmittersRCV002053122RCV003157089 |
|
NM_000059.4(BRCA2):c.3037T>A (p.Ser1013Thr)
|
SNV Germline |
Chr13:32337392 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774948 |
rs_2137492436 |
2 SubmittersRCV002053125RCV003157090 |
|
NM_000059.4(BRCA2):c.2636C>A (p.Ser879Tyr)
|
SNV Germline |
Chr13:32336991 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773245 |
rs_1064793412 |
2 SubmittersRCV002053126RCV003157091 |
|
NM_000059.4(BRCA2):c.5634C>A (p.Asn1878Lys)
|
SNV Germline |
Chr13:32339989 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940892 |
rs_80358784 |
3 SubmittersRCV002187581RCV002346367 |
|
NM_000059.4(BRCA2):c.4214A>G (p.Asn1405Ser)
|
SNV Germline |
Chr13:32338569 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780274 |
rs_2137504065 |
3 SubmittersRCV002071573RCV002331771 |
|
NM_000059.4(BRCA2):c.6841+10C>A
|
SNV Germline |
Chr13:32341206 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA2573149199 |
rs_1057522119 |
2 SubmittersRCV002116829RCV003478936 |
|
NM_000059.4(BRCA2):c.4602T>A (p.Ile1534=)
|
SNV Germline |
Chr13:32338957 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483438064 |
rs_2137508164 |
2 SubmittersRCV002126325RCV003478947 |
|
NM_000059.4(BRCA2):c.6346C>G (p.His2116Asp)
|
SNV Germline |
Chr13:32340701 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789116 |
rs_2137526607 |
2 SubmittersRCV002210921RCV003157093 |
|
NM_000059.4(BRCA2):c.2921A>G (p.Asp974Gly)
|
SNV Germline |
Chr13:32337276 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774209 |
rs_2137491259 |
2 SubmittersRCV002211250RCV003157094 |
|
NM_000059.4(BRCA2):c.5125G>C (p.Asp1709His)
|
SNV Germline |
Chr13:32339480 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784163 |
rs_398122792 |
2 SubmittersRCV002222959RCV003157096 |
|
NM_000059.4(BRCA2):c.4879C>A (p.Leu1627Ile)
|
SNV Germline |
Chr13:32339234 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783487 |
rs_2137511207 |
2 SubmittersRCV002223020RCV003157098 |
|
NM_000059.4(BRCA2):c.824A>C (p.Lys275Thr)
|
SNV Germline |
Chr13:32332302 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760435 |
rs_2137465057 |
2 SubmittersRCV002226238RCV003157099 |
|
NM_000059.4(BRCA2):c.1705C>T (p.Gln569Ter)
|
SNV Germline |
Chr13:32333183 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387765259 |
rs_397507274 |
4 SubmittersRCV002226240RCV003493925 |
|
NM_000059.4(BRCA2):c.3950C>G (p.Thr1317Ser)
|
SNV Germline |
Chr13:32338305 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778891 |
rs_1593901002 |
2 SubmittersRCV002226242RCV003157100 |
|
NM_000059.4(BRCA2):c.5890A>T (p.Lys1964Ter)
|
SNV Germline |
Chr13:32340245 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387787477 |
rs_1555284445 |
2 SubmittersRCV002243566RCV004799647 |
|
NM_000059.4(BRCA2):c.5015A>G (p.Tyr1672Cys)
|
SNV Germline |
Chr13:32339370 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783953 |
rs_2072518272 |
2 SubmittersRCV002247029RCV003157105 |
|
NM_000059.4(BRCA2):c.5483A>T (p.Lys1828Ile)
|
SNV Germline |
Chr13:32339838 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785729 |
rs_879255459 |
3 SubmittersRCV003157106RCV002247030RCV003530218 |
|
NM_000059.4(BRCA2):c.8948A>T (p.Asp2983Val)
|
SNV Germline |
Chr13:32379510 |
Conflicting classifications of pathogenicity |
not specified Ovarian cancer |
Criteria Provided Conflicting Classifications |
CA387757339 |
rs_2137620740 |
2 SubmittersRCV002247036RCV003154062 |
|
NM_000059.4(BRCA2):c.3253C>T (p.His1085Tyr)
|
SNV Germline |
Chr13:32337608 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775988 |
rs_2137494760 |
3 SubmittersRCV002250804RCV002325714 |
|
NM_000059.4(BRCA2):c.4679G>A (p.Ser1560Asn)
|
SNV Germline |
Chr13:32339034 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387782810 |
rs_2137508985 |
4 SubmittersRCV002250805RCV003157108RCV003234798 |
|
NM_000059.4(BRCA2):c.5165G>C (p.Ser1722Thr)
|
SNV Germline |
Chr13:32339520 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784252 |
rs_773707172 |
4 SubmittersRCV002250807RCV002337415RCV003530219 |
|
NM_000059.4(BRCA2):c.1198C>G (p.Leu400Val)
|
SNV Germline |
Chr13:32332676 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified |
Criteria Provided Conflicting Classifications |
CA387762050 |
rs_1413065373 |
4 SubmittersRCV002255839RCV004005550RCV004596530 |
|
NM_000059.4(BRCA2):c.1598C>G (p.Thr533Ser)
|
SNV Germline |
Chr13:32333076 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764826 |
rs_781763239 |
2 SubmittersRCV002258463 |
|
NM_000059.4(BRCA2):c.1928T>G (p.Val643Gly)
|
SNV Germline |
Chr13:32336283 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247500361 |
rs_922597695 |
4 SubmittersRCV002257058RCV003774764 |
|
NM_000059.4(BRCA2):c.2798C>T (p.Thr933Ile)
|
SNV Germline |
Chr13:32337153 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387773742 |
rs_276174830 |
5 SubmittersRCV002255841RCV002300658RCV004005552 |
|
NM_000059.4(BRCA2):c.3460A>T (p.Thr1154Ser)
|
SNV Germline |
Chr13:32337815 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776742 |
rs_1555283255 |
2 SubmittersRCV002257059 |
|
NM_000059.4(BRCA2):c.4766C>A (p.Pro1589Gln)
|
SNV Germline |
Chr13:32339121 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387783146 |
rs_2137509982 |
3 SubmittersRCV002258468RCV004690275 |
|
NM_000059.4(BRCA2):c.5705A>T (p.Asp1902Val)
|
SNV Germline |
Chr13:32340060 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786747 |
rs_2072536350 |
2 SubmittersRCV002258469 |
|
NM_000059.4(BRCA2):c.5831A>C (p.Lys1944Thr)
|
SNV Germline |
Chr13:32340186 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387787323 |
rs_2137521445 |
4 SubmittersRCV002258470RCV003324008 |
|
NM_000059.4(BRCA2):c.6574A>T (p.Met2192Leu)
|
SNV Germline |
Chr13:32340929 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789921 |
rs_926784722 |
2 SubmittersRCV002258474 |
|
NM_000059.4(BRCA2):c.1660T>C (p.Cys554Arg)
|
SNV Germline |
Chr13:32333138 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387765029 |
rs_786202149 |
4 SubmittersRCV002266191RCV003157112RCV004005574 |
|
NM_000059.4(BRCA2):c.1063G>C (p.Val355Leu)
|
SNV Germline |
Chr13:32332541 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761357 |
rs_2072403612 |
3 SubmittersRCV002266210RCV003157113 |
|
NM_000059.4(BRCA2):c.2141A>C (p.Glu714Ala)
|
SNV Germline |
Chr13:32336496 |
Conflicting classifications of pathogenicity |
Chordoma Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770133 |
rs_2137483648 |
3 SubmittersRCV002267557RCV002427742 |
|
NM_000059.4(BRCA2):c.860T>A (p.Met287Lys)
|
SNV Germline |
Chr13:32332338 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760562 |
rs_2072398884 |
3 SubmittersRCV002268726RCV002443283 |
|
NM_000059.4(BRCA2):c.2828T>C (p.Ile943Thr)
|
SNV Germline |
Chr13:32337183 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773825 |
rs_2137490364 |
3 SubmittersRCV002268730RCV002434615 |
|
NM_000059.4(BRCA2):c.5773C>A (p.Gln1925Lys)
|
SNV Germline |
Chr13:32340128 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787112 |
rs_80358806 |
2 SubmittersRCV002268733RCV003157114 |
|
NM_000059.4(BRCA2):c.2563A>G (p.Thr855Ala)
|
SNV Germline |
Chr13:32336918 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772552 |
rs_1174270999 |
2 SubmittersRCV002272785RCV003157115 |
|
NM_000059.4(BRCA2):c.6340C>A (p.Pro2114Thr)
|
SNV Germline |
Chr13:32340695 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789102 |
rs_2072552879 |
3 SubmittersRCV002273700RCV003530224RCV003157116 |
|
NM_000059.4(BRCA2):c.6922A>T (p.Lys2308Ter)
|
SNV Germline |
Chr13:32344638 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Gastric cancer |
Criteria Provided Conflicting Classifications |
CA387792928 |
rs_398122570 |
3 SubmittersRCV002282924RCV002363745RCV003164418 |
|
NM_000059.4(BRCA2):c.3239A>T (p.Asp1080Val)
|
SNV Germline |
Chr13:32337594 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775940 |
rs_2072475677 |
2 SubmittersRCV002282960RCV003157118 |
|
NM_000059.4(BRCA2):c.5209G>A (p.Asp1737Asn)
|
SNV Germline |
Chr13:32339564 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784611 |
rs_1555284106 |
2 SubmittersRCV002281859RCV003157119 |
|
NM_000059.4(BRCA2):c.7903G>T (p.Glu2635Ter)
|
SNV Germline |
Chr13:32362620 |
Likely pathogenic |
Prostate cancer |
Criteria Provided Single Submitter |
CA387747153 |
rs_2137577279 |
1 SubmittersRCV002289262 |
|
NM_000059.4(BRCA2):c.362A>T (p.Lys121Ile)
|
SNV Germline |
Chr13:32325121 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387756614 |
rs_2137446416 |
3 SubmittersRCV003289499RCV003607439 |
|
NM_000059.4(BRCA2):c.4644A>C (p.Glu1548Asp)
|
SNV Germline |
Chr13:32338999 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387782161 |
rs_1257318418 |
3 SubmittersRCV003607440RCV003157121RCV004804419 |
|
NM_000059.4(BRCA2):c.7297C>T (p.Gln2433Ter)
|
SNV Germline |
Chr13:32355150 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA387740866 |
rs_2137557757 |
1 SubmittersRCV002289500 |
|
NM_000059.4(BRCA2):c.830A>G (p.Asn277Ser)
|
SNV Germline |
Chr13:32332308 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387760456 |
rs_1419882645 |
4 SubmittersRCV003157124RCV003097785RCV002290112 |
|
NM_000059.4(BRCA2):c.2743A>T (p.Thr915Ser)
|
SNV Germline |
Chr13:32337098 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387773626 |
rs_2137489400 |
3 SubmittersRCV003157127RCV003607444 |
|
NM_000059.4(BRCA2):c.5813G>T (p.Gly1938Val)
|
SNV Germline |
Chr13:32340168 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787261 |
rs_41293499 |
2 SubmittersRCV002304319RCV003157131 |
|
NM_000059.4(BRCA2):c.4613C>G (p.Ser1538Cys)
|
SNV Germline |
Chr13:32338968 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782022 |
rs_754643404 |
2 SubmittersRCV002297204RCV003157132 |
|
NM_000059.4(BRCA2):c.2164A>G (p.Lys722Glu)
|
SNV Germline |
Chr13:32336519 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770260 |
rs_2137483851 |
2 SubmittersRCV002303174RCV003157139 |
|
NM_000059.4(BRCA2):c.5935A>G (p.Ser1979Gly)
|
SNV Germline |
Chr13:32340290 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787559 |
rs_2137522453 |
2 SubmittersRCV002295867RCV003157140 |
|
NM_000059.4(BRCA2):c.1193T>A (p.Leu398Gln)
|
SNV Germline |
Chr13:32332671 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762032 |
rs_2548519786 |
2 SubmittersRCV002296522RCV003157147 |
|
NM_000059.4(BRCA2):c.5422A>G (p.Ile1808Val)
|
SNV Germline |
Chr13:32339777 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785430 |
rs_2137517397 |
4 SubmittersRCV003331341RCV002303746RCV003157161 |
|
NM_000059.4(BRCA2):c.944G>T (p.Cys315Phe)
|
SNV Germline |
Chr13:32332422 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760823 |
rs_2072400977 |
2 SubmittersRCV002303754RCV003157162 |
|
NM_000059.4(BRCA2):c.3005A>G (p.Asn1002Ser)
|
SNV Germline |
Chr13:32337360 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774699 |
rs_730881518 |
2 SubmittersRCV002304024RCV003157164 |
|
NM_000059.4(BRCA2):c.6026A>C (p.Gln2009Pro)
|
SNV Germline |
Chr13:32340381 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787771 |
rs_1285547765 |
2 SubmittersRCV002294947RCV003157178 |
|
NM_000059.4(BRCA2):c.1108G>A (p.Val370Ile)
|
SNV Germline |
Chr13:32332586 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761590 |
rs_2137467717 |
2 SubmittersRCV002300361RCV003157179 |
|
NM_000059.4(BRCA2):c.3055C>A (p.Leu1019Ile)
|
SNV Germline |
Chr13:32337410 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775084 |
rs_55638633 |
2 SubmittersRCV002300472RCV003157181 |
|
NM_000059.4(BRCA2):c.1100A>C (p.Asp367Ala)
|
SNV Germline |
Chr13:32332578 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761552 |
rs_2137467642 |
2 SubmittersRCV002305305RCV003157182 |
|
NM_000059.4(BRCA2):c.4675T>G (p.Phe1559Val)
|
SNV Germline |
Chr13:32339030 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782798 |
rs_2137508937 |
2 SubmittersRCV002297012RCV003157129 |
|
NM_000059.4(BRCA2):c.3118A>G (p.Thr1040Ala)
|
SNV Germline |
Chr13:32337473 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775473 |
rs_2137493390 |
2 SubmittersRCV002297145RCV003157130 |
|
NM_000059.4(BRCA2):c.4514C>G (p.Thr1505Ser)
|
SNV Germline |
Chr13:32338869 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781634 |
rs_1566230463 |
2 SubmittersRCV002297478RCV003157144 |
|
NM_000059.4(BRCA2):c.6317T>G (p.Leu2106Arg)
|
SNV Germline |
Chr13:32340672 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789059 |
rs_56172926 |
2 SubmittersRCV002302049RCV003157159 |
|
NM_000059.4(BRCA2):c.5585T>C (p.Val1862Ala)
|
SNV Germline |
Chr13:32339940 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786028 |
rs_1593905868 |
2 SubmittersRCV002302057RCV003157160 |
|
NM_000059.4(BRCA2):c.2301C>G (p.Ser767Arg)
|
SNV Germline |
Chr13:32336656 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771304 |
rs_2072454710 |
3 SubmittersRCV002300135RCV002427771 |
|
NM_000059.4(BRCA2):c.5066C>T (p.Ala1689Val)
|
SNV Germline |
Chr13:32339421 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784053 |
rs_2548529950 |
2 SubmittersRCV002294755RCV003157174 |
|
NM_000059.4(BRCA2):c.6492G>C (p.Gln2164His)
|
SNV Germline |
Chr13:32340847 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789504 |
rs_2137528107 |
2 SubmittersRCV002294776RCV003157175 |
|
NM_000059.4(BRCA2):c.5901G>C (p.Lys1967Asn)
|
SNV Germline |
Chr13:32340256 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787495 |
rs_556893517 |
3 SubmittersRCV002294852RCV003157176 |
|
NM_000059.4(BRCA2):c.805A>C (p.Thr269Pro)
|
SNV Germline |
Chr13:32332283 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760371 |
rs_1217128211 |
2 SubmittersRCV002304472RCV003157136 |
|
NM_000059.4(BRCA2):c.5198C>G (p.Ser1733Cys)
|
SNV Germline |
Chr13:32339553 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784588 |
rs_55639415 |
2 SubmittersRCV002299473RCV003157137 |
|
NM_000059.4(BRCA2):c.4428C>A (p.Asp1476Glu)
|
SNV Germline |
Chr13:32338783 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781278 |
rs_2137506249 |
2 SubmittersRCV002301249RCV003157138 |
|
NM_000059.4(BRCA2):c.3416A>T (p.Lys1139Met)
|
SNV Germline |
Chr13:32337771 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776499 |
rs_2548525900 |
2 SubmittersRCV002299952RCV003157151 |
|
NM_000059.4(BRCA2):c.3755C>T (p.Ser1252Phe)
|
SNV Germline |
Chr13:32338110 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778201 |
rs_1361496246 |
2 SubmittersRCV002301648RCV003157153 |
|
NM_000059.4(BRCA2):c.6772G>C (p.Glu2258Gln)
|
SNV Germline |
Chr13:32341127 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791223 |
rs_730881549 |
2 SubmittersRCV002301770RCV003157155 |
|
NM_000059.4(BRCA2):c.4130A>G (p.Asn1377Ser)
|
SNV Germline |
Chr13:32338485 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940753 |
rs_749624669 |
4 SubmittersRCV002296728RCV003157157RCV004005604 |
|
NM_000059.4(BRCA2):c.3079A>G (p.Ser1027Gly)
|
SNV Germline |
Chr13:32337434 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775206 |
rs_2137492982 |
3 SubmittersRCV002305155RCV002319753 |
|
NM_000059.4(BRCA2):c.4163C>G (p.Thr1388Ser)
|
SNV Germline |
Chr13:32338518 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780049 |
rs_28897725 |
2 SubmittersRCV002295179RCV003157194 |
|
NM_000059.4(BRCA2):c.4151T>C (p.Leu1384Ser)
|
SNV Germline |
Chr13:32338506 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779996 |
rs_397507325 |
3 SubmittersRCV002295187RCV003157195 |
|
NM_000059.4(BRCA2):c.1949A>C (p.Asn650Thr)
|
SNV Germline |
Chr13:32336304 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768418 |
rs_773619645 |
2 SubmittersRCV002302879RCV003157128 |
|
NM_000059.4(BRCA2):c.6764C>T (p.Thr2255Ile)
|
SNV Germline |
Chr13:32341119 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Hereditary cancer not specified Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA387791195 |
rs_2137530514 |
6 SubmittersRCV002303005RCV002363749RCV005232945RCV005232944RCV005356087 |
|
NM_000059.4(BRCA2):c.2357C>T (p.Ser786Phe)
|
SNV Germline |
Chr13:32336712 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387771690 |
rs_80358501 |
2 SubmittersRCV003157141RCV002304711 |
|
NM_000059.4(BRCA2):c.6466T>G (p.Ser2156Ala)
|
SNV Germline |
Chr13:32340821 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789384 |
rs_2137527843 |
2 SubmittersRCV002295980RCV003157142 |
|
NM_000059.4(BRCA2):c.4561C>G (p.Leu1521Val)
|
SNV Germline |
Chr13:32338916 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781828 |
rs_370723514 |
3 SubmittersRCV002304854RCV004005602RCV003157148 |
|
NM_000059.4(BRCA2):c.850G>A (p.Gly284Arg)
|
SNV Germline |
Chr13:32332328 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760530 |
rs_1437563380 |
2 SubmittersRCV002299718RCV003157149 |
|
NM_000059.4(BRCA2):c.3721T>G (p.Phe1241Val)
|
SNV Germline |
Chr13:32338076 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778087 |
rs_2137499348 |
2 SubmittersRCV002299857RCV003157150 |
|
NM_000059.4(BRCA2):c.6019A>G (p.Thr2007Ala)
|
SNV Germline |
Chr13:32340374 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787742 |
rs_2548532388 |
2 SubmittersRCV003157165RCV002304105 |
|
NM_000059.4(BRCA2):c.868G>A (p.Val290Ile)
|
SNV Germline |
Chr13:32332346 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760590 |
rs_1555281616 |
3 SubmittersRCV002304161RCV003157166 |
|
NM_000059.4(BRCA2):c.2833A>G (p.Lys945Glu)
|
SNV Germline |
Chr13:32337188 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773849 |
rs_2072466023 |
2 SubmittersRCV002297936RCV003157168 |
|
NM_000059.4(BRCA2):c.3224G>C (p.Ser1075Thr)
|
SNV Germline |
Chr13:32337579 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775910 |
rs_2137494493 |
2 SubmittersRCV002305104RCV003157169 |
|
NM_000059.4(BRCA2):c.1279G>T (p.Asp427Tyr)
|
SNV Germline |
Chr13:32332757 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762424 |
rs_147797288 |
2 SubmittersRCV002298043RCV003157170 |
|
NM_000059.4(BRCA2):c.5757G>C (p.Lys1919Asn)
|
SNV Germline |
Chr13:32340112 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787051 |
rs_1566233164 |
2 SubmittersRCV002305129RCV003157171 |
|
NM_000059.4(BRCA2):c.283G>C (p.Val95Leu)
|
SNV Germline |
Chr13:32319292 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754610 |
rs_1566216059 |
2 SubmittersRCV002305348RCV002434634 |
|
NM_000059.4(BRCA2):c.4013G>T (p.Gly1338Val)
|
SNV Germline |
Chr13:32338368 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387779025 |
rs_2137502060 |
4 SubmittersRCV002294964RCV003157185RCV003478962 |
|
NM_000059.4(BRCA2):c.1789G>C (p.Glu597Gln)
|
SNV Germline |
Chr13:32333267 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765760 |
rs_80358461 |
3 SubmittersRCV002294995RCV004005608RCV003157186 |
|
NM_000059.4(BRCA2):c.1475C>G (p.Ser492Cys)
|
SNV Germline |
Chr13:32332953 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764409 |
rs_2137471880 |
2 SubmittersRCV002302286RCV003157191 |
|
NM_000059.4(BRCA2):c.5713C>T (p.His1905Tyr)
|
SNV Germline |
Chr13:32340068 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786792 |
rs_1593906278 |
3 SubmittersRCV002295073RCV003157192 |
|
NM_000059.4(BRCA2):c.4375A>T (p.Asn1459Tyr)
|
SNV Germline |
Chr13:32338730 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781023 |
rs_2072502681 |
3 SubmittersRCV002302325RCV002332974 |
|
NM_000059.4(BRCA2):c.2020G>C (p.Glu674Gln)
|
SNV Germline |
Chr13:32336375 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768822 |
rs_879255439 |
2 SubmittersRCV002295127RCV003157193 |
|
NM_000059.4(BRCA2):c.2361A>C (p.Arg787Ser)
|
SNV Germline |
Chr13:32336716 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771706 |
rs_2137485700 |
3 SubmittersRCV002302609RCV002443312 |
|
NM_000059.4(BRCA2):c.4646A>T (p.Lys1549Ile)
|
SNV Germline |
Chr13:32339001 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782170 |
rs_2548528952 |
2 SubmittersRCV002302610RCV003157197 |
|
NM_000059.4(BRCA2):c.1703C>G (p.Thr568Arg)
|
SNV Germline |
Chr13:32333181 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387765252 |
rs_2072420088 |
3 SubmittersRCV002306132RCV003157198RCV005096123 |
|
NM_000059.4(BRCA2):c.2131T>C (p.Cys711Arg)
|
SNV Germline |
Chr13:32336486 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770078 |
rs_2137483563 |
2 SubmittersRCV002308602RCV003157199 |
|
NM_000059.4(BRCA2):c.3081C>G (p.Ser1027Arg)
|
SNV Germline |
Chr13:32337436 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775218 |
rs_1593898540 |
2 SubmittersRCV002319888 |
|
NM_000059.4(BRCA2):c.3083A>C (p.Lys1028Thr)
|
SNV Germline |
Chr13:32337438 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775229 |
rs_730881519 |
3 SubmittersRCV002319899RCV005058263 |
|
NM_000059.4(BRCA2):c.3209C>T (p.Ala1070Val)
|
SNV Germline |
Chr13:32337564 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775879 |
rs_2137494341 |
2 SubmittersRCV002443382 |
|
NM_000059.4(BRCA2):c.3219G>T (p.Gln1073His)
|
SNV Germline |
Chr13:32337574 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775898 |
rs_753935319 |
2 SubmittersRCV002324660 |
|
NM_000059.4(BRCA2):c.3224G>T (p.Ser1075Ile)
|
SNV Germline |
Chr13:32337579 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775911 |
rs_2137494493 |
2 SubmittersRCV002324692 |
|
NM_000059.4(BRCA2):c.3236C>A (p.Ser1079Tyr)
|
SNV Germline |
Chr13:32337591 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775933 |
rs_2072475650 |
2 SubmittersRCV002445567 |
|
NM_000059.4(BRCA2):c.1139G>C (p.Ser380Thr)
|
SNV Germline |
Chr13:32332617 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940492 |
rs_780798665 |
3 SubmittersRCV002454807RCV003775603 |
|
NM_000059.4(BRCA2):c.3398C>G (p.Pro1133Arg)
|
SNV Germline |
Chr13:32337753 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776466 |
rs_1170876773 |
2 SubmittersRCV002451968 |
|
NM_000059.4(BRCA2):c.3538A>G (p.Lys1180Glu)
|
SNV Germline |
Chr13:32337893 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387777148 |
rs_2137497630 |
3 SubmittersRCV002459454RCV003645256 |
|
NM_000059.4(BRCA2):c.3551G>A (p.Gly1184Asp)
|
SNV Germline |
Chr13:32337906 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777227 |
rs_431825309 |
2 SubmittersRCV002339746 |
|
NM_000059.4(BRCA2):c.3560A>C (p.Glu1187Ala)
|
SNV Germline |
Chr13:32337915 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777273 |
rs_2137497868 |
2 SubmittersRCV002339782 |
|
NM_000059.4(BRCA2):c.3710C>T (p.Ala1237Val)
|
SNV Germline |
Chr13:32338065 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387778068 |
rs_2137499224 |
3 SubmittersRCV002349006RCV003738193 |
|
NM_000059.4(BRCA2):c.3718C>A (p.Leu1240Met)
|
SNV Germline |
Chr13:32338073 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778080 |
rs_2137499307 |
2 SubmittersRCV002349056 |
|
NM_000059.4(BRCA2):c.3887A>G (p.Asn1296Ser)
|
SNV Germline |
Chr13:32338242 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778758 |
rs_2548527130 |
5 SubmittersRCV004005646RCV003403789RCV003645263RCV002366334 |
|
NM_000059.4(BRCA2):c.3890A>G (p.Asn1297Ser)
|
SNV Germline |
Chr13:32338245 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778766 |
rs_2137500985 |
2 SubmittersRCV002357402 |
|
NM_000059.4(BRCA2):c.4081C>T (p.Gln1361Ter)
|
SNV Germline |
Chr13:32338436 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA247506459 |
rs_587780652 |
3 SubmittersRCV002323128RCV003645267RCV005421259 |
|
NM_000059.4(BRCA2):c.4099A>T (p.Lys1367Ter)
|
SNV Germline |
Chr13:32338454 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387779247 |
rs_2137502904 |
2 SubmittersRCV002323285RCV003102520 |
|
NM_000059.4(BRCA2):c.4101A>T (p.Lys1367Asn)
|
SNV Germline |
Chr13:32338456 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779258 |
rs_786201982 |
2 SubmittersRCV002323348 |
|
NM_000059.4(BRCA2):c.4247A>T (p.Gln1416Leu)
|
SNV Germline |
Chr13:32338602 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780420 |
rs_2072499770 |
2 SubmittersRCV002329812 |
|
NM_000059.4(BRCA2):c.3203T>C (p.Val1068Ala)
|
SNV Germline |
Chr13:32337558 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775869 |
rs_2137494278 |
2 SubmittersRCV002323002 |
|
NM_000059.4(BRCA2):c.3203T>G (p.Val1068Gly)
|
SNV Germline |
Chr13:32337558 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775870 |
rs_2137494278 |
2 SubmittersRCV002443364 |
|
NM_000059.4(BRCA2):c.3324G>C (p.Lys1108Asn)
|
SNV Germline |
Chr13:32337679 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776249 |
rs_1555283170 |
2 SubmittersRCV002326412 |
|
NM_000059.4(BRCA2):c.3333T>G (p.Ile1111Met)
|
SNV Germline |
Chr13:32337688 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776281 |
rs_878853566 |
2 SubmittersRCV002326509 |
|
NM_000059.4(BRCA2):c.3337G>C (p.Glu1113Gln)
|
SNV Germline |
Chr13:32337692 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776296 |
rs_1482364471 |
2 SubmittersRCV002326541 |
|
NM_000059.4(BRCA2):c.3340C>G (p.Leu1114Val)
|
SNV Germline |
Chr13:32337695 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776310 |
rs_1468014859 |
2 SubmittersRCV002326593 |
|
NM_000059.4(BRCA2):c.3344C>T (p.Ser1115Phe)
|
SNV Germline |
Chr13:32337699 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247504849 |
rs_879255448 |
2 SubmittersRCV002326620 |
|
NM_000059.4(BRCA2):c.3493C>T (p.His1165Tyr)
|
SNV Germline |
Chr13:32337848 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776912 |
rs_2137497182 |
2 SubmittersRCV002459054 |
|
NM_000059.4(BRCA2):c.1144A>G (p.Lys382Glu)
|
SNV Germline |
Chr13:32332622 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761820 |
rs_371454630 |
2 SubmittersRCV002459137 |
|
NM_000059.4(BRCA2):c.3502A>G (p.Met1168Val)
|
SNV Germline |
Chr13:32337857 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776952 |
rs_2137497299 |
2 SubmittersRCV002459155 |
|
NM_000059.4(BRCA2):c.3511C>T (p.Pro1171Ser)
|
SNV Germline |
Chr13:32337866 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387777005 |
rs_2137497389 |
3 SubmittersRCV002459226RCV003645255 |
|
NM_000059.4(BRCA2):c.3523C>G (p.Gln1175Glu)
|
SNV Germline |
Chr13:32337878 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777063 |
rs_886040480 |
2 SubmittersRCV002459343 |
|
NM_000059.4(BRCA2):c.3664G>C (p.Ala1222Pro)
|
SNV Germline |
Chr13:32338019 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387777980 |
rs_1555283343 |
3 SubmittersRCV002452585RCV004763370 |
|
NM_000059.4(BRCA2):c.3689C>T (p.Ser1230Phe)
|
SNV Germline |
Chr13:32338044 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778026 |
rs_2137499058 |
2 SubmittersRCV002457451 |
|
NM_000059.4(BRCA2):c.3826G>T (p.Glu1276Ter)
|
SNV Germline |
Chr13:32338181 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387778508 |
rs_878853575 |
1 SubmittersRCV002355366 |
|
NM_000059.4(BRCA2):c.3842A>C (p.Lys1281Thr)
|
SNV Germline |
Chr13:32338197 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778577 |
rs_2137500507 |
2 SubmittersRCV002364076 |
|
NM_000059.4(BRCA2):c.3858A>C (p.Lys1286Asn)
|
SNV Germline |
Chr13:32338213 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778647 |
rs_1555283430 |
2 SubmittersRCV002355520 |
|
NM_000059.4(BRCA2):c.4016G>T (p.Ser1339Ile)
|
SNV Germline |
Chr13:32338371 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779031 |
rs_2137502105 |
2 SubmittersRCV002359452 |
|
NM_000059.4(BRCA2):c.4022C>G (p.Ser1341Ter)
|
SNV Germline |
Chr13:32338377 |
Pathogenic |
Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Multiple Submitters No Conflicts |
CA387779045 |
rs_1135401901 |
2 SubmittersRCV002375737RCV005008543 |
|
NM_000059.4(BRCA2):c.4025G>T (p.Ser1342Ile)
|
SNV Germline |
Chr13:32338380 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779052 |
rs_1270552356 |
2 SubmittersRCV002359511 |
|
NM_000059.4(BRCA2):c.4033G>T (p.Asp1345Tyr)
|
SNV Germline |
Chr13:32338388 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779072 |
rs_1555283516 |
2 SubmittersRCV002321179 |
|
NM_000059.4(BRCA2):c.4053A>G (p.Lys1351=)
|
SNV Germline |
Chr13:32338408 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483438141 |
rs_2548527526 |
3 SubmittersRCV002321302RCV003476956RCV005058347 |
|
NM_000059.4(BRCA2):c.4165T>C (p.Phe1389Leu)
|
SNV Germline |
Chr13:32338520 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780059 |
rs_1409088355 |
2 SubmittersRCV002333349 |
|
NM_000059.4(BRCA2):c.416T>G (p.Leu139Arg)
|
SNV Germline |
Chr13:32325175 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940356 |
rs_80358660 |
3 SubmittersRCV002333396RCV005356097RCV005096499 |
|
NM_000059.4(BRCA2):c.4199A>G (p.His1400Arg)
|
SNV Germline |
Chr13:32338554 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387780202 |
rs_1454140894 |
4 SubmittersRCV003094579RCV002327814RCV003234591 |
|
NM_000059.4(BRCA2):c.4205A>G (p.Asn1402Ser)
|
SNV Germline |
Chr13:32338560 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387780230 |
rs_2137503951 |
3 SubmittersRCV002327895RCV005096508 |
|
NM_000059.4(BRCA2):c.4372C>G (p.His1458Asp)
|
SNV Germline |
Chr13:32338727 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781010 |
rs_80358672 |
2 SubmittersRCV002333519 |
|
NM_000059.4(BRCA2):c.4412G>C (p.Arg1471Thr)
|
SNV Germline |
Chr13:32338767 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781189 |
rs_786203839 |
3 SubmittersRCV002333836RCV005096559 |
|
NM_000059.4(BRCA2):c.4420A>G (p.Lys1474Glu)
|
SNV Germline |
Chr13:32338775 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781231 |
rs_2137506148 |
3 SubmittersRCV002333902RCV003094692 |
|
NM_000059.4(BRCA2):c.3303T>A (p.His1101Gln)
|
SNV Germline |
Chr13:32337658 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776176 |
rs_2137495254 |
2 SubmittersRCV002326238 |
|
NM_000059.4(BRCA2):c.3317G>T (p.Ser1106Ile)
|
SNV Germline |
Chr13:32337672 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776224 |
rs_876660591 |
2 SubmittersRCV002454733 |
|
NM_000059.4(BRCA2):c.3476G>T (p.Cys1159Phe)
|
SNV Germline |
Chr13:32337831 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776831 |
rs_2137496967 |
2 SubmittersRCV002457327 |
|
NM_000059.4(BRCA2):c.3802T>C (p.Ser1268Pro)
|
SNV Germline |
Chr13:32338157 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778418 |
rs_751092504 |
2 SubmittersRCV002355193 |
|
NM_000059.4(BRCA2):c.3986G>T (p.Arg1329Ile)
|
SNV Germline |
Chr13:32338341 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778963 |
rs_1566229484 |
2 SubmittersRCV002375557 |
|
NM_000059.4(BRCA2):c.4007T>A (p.Phe1336Tyr)
|
SNV Germline |
Chr13:32338362 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779008 |
rs_757305371 |
2 SubmittersRCV002375693 |
|
NM_000059.4(BRCA2):c.4010A>C (p.Asp1337Ala)
|
SNV Germline |
Chr13:32338365 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779015 |
rs_1555283501 |
2 SubmittersRCV002357850 |
|
NM_000059.4(BRCA2):c.4313T>C (p.Val1438Ala)
|
SNV Germline |
Chr13:32338668 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780795 |
rs_2137505065 |
2 SubmittersRCV002331986 |
|
NM_000059.4(BRCA2):c.4316C>T (p.Ala1439Val)
|
SNV Germline |
Chr13:32338671 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780811 |
rs_80358667 |
2 SubmittersRCV002331998 |
|
NM_000059.4(BRCA2):c.4339G>T (p.Val1447Leu)
|
SNV Germline |
Chr13:32338694 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780881 |
rs_1064795076 |
2 SubmittersRCV002332173 |
|
NM_000059.4(BRCA2):c.4352A>C (p.Asp1451Ala)
|
SNV Germline |
Chr13:32338707 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780936 |
rs_80358671 |
2 SubmittersRCV002332280 |
|
NM_000059.4(BRCA2):c.4358A>C (p.Lys1453Thr)
|
SNV Germline |
Chr13:32338713 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780954 |
rs_2072502303 |
2 SubmittersRCV002332308 |
|
NM_000059.4(BRCA2):c.4361C>T (p.Pro1454Leu)
|
SNV Germline |
Chr13:32338716 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940775 |
rs_760773155 |
2 SubmittersRCV002332356 |
|
NM_000059.4(BRCA2):c.3106G>C (p.Glu1036Gln)
|
SNV Germline |
Chr13:32337461 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387775378 |
rs_1060502449 |
4 SubmittersRCV002326030RCV003645248RCV004804421 |
|
NM_000059.4(BRCA2):c.3260C>A (p.Thr1087Asn)
|
SNV Germline |
Chr13:32337615 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776009 |
rs_1555283123 |
2 SubmittersRCV002324965 |
|
NM_000059.4(BRCA2):c.3263C>A (p.Pro1088His)
|
SNV Germline |
Chr13:32337618 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776019 |
rs_876660365 |
3 SubmittersRCV002324983RCV003645252 |
|
NM_000059.4(BRCA2):c.3266A>G (p.Gln1089Arg)
|
SNV Germline |
Chr13:32337621 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776032 |
rs_2137494897 |
2 SubmittersRCV002324990 |
|
NM_000059.4(BRCA2):c.3278C>A (p.Ser1093Tyr)
|
SNV Germline |
Chr13:32337633 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776081 |
rs_2137495034 |
2 SubmittersRCV002325038 |
|
NM_000059.4(BRCA2):c.3436G>A (p.Glu1146Lys)
|
SNV Germline |
Chr13:32337791 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776594 |
rs_1237049560 |
2 SubmittersRCV002457069 |
|
NM_000059.4(BRCA2):c.3589A>G (p.Lys1197Glu)
|
SNV Germline |
Chr13:32337944 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777425 |
rs_1309043028 |
2 SubmittersRCV002455121 |
|
NM_000059.4(BRCA2):c.3604A>G (p.Lys1202Glu)
|
SNV Germline |
Chr13:32337959 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777517 |
rs_2137498258 |
2 SubmittersRCV002455250 |
|
NM_000059.4(BRCA2):c.3743G>A (p.Ser1248Asn)
|
SNV Germline |
Chr13:32338098 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778157 |
rs_1555283383 |
2 SubmittersRCV002349250 |
|
NM_000059.4(BRCA2):c.3745G>A (p.Glu1249Lys)
|
SNV Germline |
Chr13:32338100 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387778162 |
rs_1348655194 |
4 SubmittersRCV002349260RCV004005639 |
|
NM_000059.4(BRCA2):c.3777T>A (p.Ser1259Arg)
|
SNV Germline |
Chr13:32338132 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778299 |
rs_2137499913 |
2 SubmittersRCV002351115 |
|
NM_000059.4(BRCA2):c.3782C>T (p.Ser1261Phe)
|
SNV Germline |
Chr13:32338137 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778334 |
rs_276174836 |
3 SubmittersRCV002351151RCV005096388 |
|
NM_000059.4(BRCA2):c.3928A>G (p.Thr1310Ala)
|
SNV Germline |
Chr13:32338283 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778843 |
rs_2072491912 |
3 SubmittersRCV003645264RCV002373205 |
|
NM_000059.4(BRCA2):c.3937T>G (p.Tyr1313Asp)
|
SNV Germline |
Chr13:32338292 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778864 |
rs_2137501390 |
2 SubmittersRCV002373245 |
|
NM_000059.4(BRCA2):c.3952G>A (p.Glu1318Lys)
|
SNV Germline |
Chr13:32338307 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778893 |
rs_2137501500 |
4 SubmittersRCV003493935RCV003645265RCV002375436 |
|
NM_000059.4(BRCA2):c.3960A>C (p.Glu1320Asp)
|
SNV Germline |
Chr13:32338315 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778913 |
rs_1593901020 |
2 SubmittersRCV002357680 |
|
NM_000059.4(BRCA2):c.3967A>C (p.Lys1323Gln)
|
SNV Germline |
Chr13:32338322 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778924 |
rs_80358648 |
2 SubmittersRCV002375467 |
|
NM_000059.4(BRCA2):c.4112A>G (p.Gln1371Arg)
|
SNV Germline |
Chr13:32338467 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387779294 |
rs_2072496412 |
3 SubmittersRCV002323426RCV003645269 |
|
NM_000059.4(BRCA2):c.4114T>C (p.Phe1372Leu)
|
SNV Germline |
Chr13:32338469 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779301 |
rs_864622169 |
2 SubmittersRCV002323440 |
|
NM_000059.4(BRCA2):c.4123G>A (p.Glu1375Lys)
|
SNV Germline |
Chr13:32338478 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387779341 |
rs_2137503120 |
4 SubmittersRCV002333015RCV003775821 |
|
NM_000059.4(BRCA2):c.4135C>A (p.Gln1379Lys)
|
SNV Germline |
Chr13:32338490 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779387 |
rs_2072497088 |
2 SubmittersRCV002333089 |
|
NM_000059.4(BRCA2):c.4144G>T (p.Glu1382Ter)
|
SNV Germline |
Chr13:32338499 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387779962 |
rs_2137503335 |
2 SubmittersRCV002333172RCV003094545 |
|
NM_000059.4(BRCA2):c.4264G>T (p.Glu1422Ter)
|
SNV Germline |
Chr13:32338619 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387780515 |
rs_2137504588 |
1 SubmittersRCV002329970 |
|
NM_000059.4(BRCA2):c.4267A>G (p.Thr1423Ala)
|
SNV Germline |
Chr13:32338622 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940765 |
rs_779130725 |
2 SubmittersRCV002329984 |
|
NM_000059.4(BRCA2):c.4286A>G (p.Gln1429Arg)
|
SNV Germline |
Chr13:32338641 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780638 |
rs_2137504838 |
2 SubmittersRCV002330155 |
|
NM_000059.4(BRCA2):c.4291G>C (p.Ala1431Pro)
|
SNV Germline |
Chr13:32338646 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780659 |
rs_2137504870 |
2 SubmittersRCV002330221 |
|
NM_000059.4(BRCA2):c.4424T>A (p.Met1475Lys)
|
SNV Germline |
Chr13:32338779 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781257 |
rs_2072503948 |
3 SubmittersRCV002333922RCV003645275 |
|
NM_000059.4(BRCA2):c.4429A>T (p.Ile1477Phe)
|
SNV Germline |
Chr13:32338784 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781285 |
rs_1159807733 |
3 SubmittersRCV002333943RCV003094695 |
|
NM_000059.4(BRCA2):c.4448C>T (p.Thr1483Ile)
|
SNV Germline |
Chr13:32338803 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781369 |
rs_2137506455 |
2 SubmittersRCV002328308 |
|
NM_000059.4(BRCA2):c.4468A>G (p.Ile1490Val)
|
SNV Germline |
Chr13:32338823 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781449 |
rs_2137506702 |
2 SubmittersRCV002328455 |
|
NM_000059.4(BRCA2):c.4670C>A (p.Thr1557Asn)
|
SNV Germline |
Chr13:32339025 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782780 |
rs_80358698 |
2 SubmittersRCV002330509 |
|
NM_000059.4(BRCA2):c.4672A>T (p.Ser1558Cys)
|
SNV Germline |
Chr13:32339027 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387782783 |
rs_587782822 |
3 SubmittersRCV002335164RCV005096624 |
|
NM_000059.4(BRCA2):c.4691C>G (p.Ala1564Gly)
|
SNV Germline |
Chr13:32339046 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782863 |
rs_2137509103 |
2 SubmittersRCV002335258 |
|
NM_000059.4(BRCA2):c.4715C>T (p.Ala1572Val)
|
SNV Germline |
Chr13:32339070 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782958 |
rs_2072511378 |
2 SubmittersRCV002335361 |
|
NM_000059.4(BRCA2):c.4904T>C (p.Leu1635Ser)
|
SNV Germline |
Chr13:32339259 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783567 |
rs_886038110 |
2 SubmittersRCV002340666 |
|
NM_000059.4(BRCA2):c.4909G>C (p.Val1637Leu)
|
SNV Germline |
Chr13:32339264 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783586 |
rs_2137511522 |
2 SubmittersRCV002340681 |
|
NM_000059.4(BRCA2):c.4928T>A (p.Val1643Glu)
|
SNV Germline |
Chr13:32339283 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783650 |
rs_28897731 |
2 SubmittersRCV002351285 |
|
NM_000059.4(BRCA2):c.4947A>C (p.Lys1649Asn)
|
SNV Germline |
Chr13:32339302 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783737 |
rs_2137511966 |
2 SubmittersRCV002342702 |
|
NM_000059.4(BRCA2):c.5177A>G (p.Glu1726Gly)
|
SNV Germline |
Chr13:32339532 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784543 |
rs_2137514734 |
2 SubmittersRCV002338418 |
|
NM_000059.4(BRCA2):c.5183A>T (p.Asp1728Val)
|
SNV Germline |
Chr13:32339538 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784559 |
rs_2072522598 |
2 SubmittersRCV002338461 |
|
NM_000059.4(BRCA2):c.5192A>T (p.His1731Leu)
|
SNV Germline |
Chr13:32339547 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784577 |
rs_765259371 |
2 SubmittersRCV002338515 |
|
NM_000059.4(BRCA2):c.5429T>C (p.Val1810Ala)
|
SNV Germline |
Chr13:32339784 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785471 |
rs_2137517448 |
2 SubmittersRCV002349531 |
|
NM_000059.4(BRCA2):c.5433G>T (p.Glu1811Asp)
|
SNV Germline |
Chr13:32339788 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785495 |
rs_2137517478 |
2 SubmittersRCV002349563 |
|
NM_000059.4(BRCA2):c.5447G>T (p.Ser1816Ile)
|
SNV Germline |
Chr13:32339802 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387785577 |
rs_2072529621 |
4 SubmittersRCV002349629RCV003096743RCV003476964 |
|
NM_000059.4(BRCA2):c.5720C>G (p.Ser1907Cys)
|
SNV Germline |
Chr13:32340075 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786847 |
rs_1555284376 |
2 SubmittersRCV002347684 |
|
NM_000059.4(BRCA2):c.5746C>T (p.His1916Tyr)
|
SNV Germline |
Chr13:32340101 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786989 |
rs_2137520497 |
2 SubmittersRCV002347810 |
|
NM_000059.4(BRCA2):c.5747A>T (p.His1916Leu)
|
SNV Germline |
Chr13:32340102 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786993 |
rs_431825334 |
2 SubmittersRCV002349905 |
|
NM_000059.4(BRCA2):c.5759T>C (p.Val1920Ala)
|
SNV Germline |
Chr13:32340114 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787062 |
rs_2137520635 |
2 SubmittersRCV002349950 |
|
NM_000059.4(BRCA2):c.5762T>C (p.Phe1921Ser)
|
SNV Germline |
Chr13:32340117 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787074 |
rs_2137520687 |
3 SubmittersRCV003103227RCV002359603 |
|
NM_000059.4(BRCA2):c.5767G>A (p.Asp1923Asn)
|
SNV Germline |
Chr13:32340122 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787087 |
rs_2137520737 |
2 SubmittersRCV002359619 |
|
NM_000059.4(BRCA2):c.6015T>A (p.Asp2005Glu)
|
SNV Germline |
Chr13:32340370 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387787722 |
rs_2137523282 |
4 SubmittersRCV003098103RCV002358080RCV004801202 |
|
NM_000059.4(BRCA2):c.6045G>C (p.Leu2015Phe)
|
SNV Germline |
Chr13:32340400 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787846 |
rs_1593907348 |
3 SubmittersRCV002358236RCV005096886 |
|
NM_000059.4(BRCA2):c.6049A>G (p.Lys2017Glu)
|
SNV Germline |
Chr13:32340404 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787870 |
rs_886040630 |
2 SubmittersRCV002358242 |
|
NM_000059.4(BRCA2):c.6294T>G (p.Ser2098=)
|
SNV Germline |
Chr13:32340649 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA483438763 |
rs_2137526116 |
4 SubmittersRCV002368748RCV003476968RCV003530245RCV004005721 |
|
NM_000059.4(BRCA2):c.6296G>A (p.Arg2099Lys)
|
SNV Germline |
Chr13:32340651 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789017 |
rs_80358868 |
3 SubmittersRCV002368752RCV003120944 |
|
NM_000059.4(BRCA2):c.6320C>T (p.Pro2107Leu)
|
SNV Germline |
Chr13:32340675 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789065 |
rs_2072552266 |
3 SubmittersRCV002353998RCV003098205 |
|
NM_000059.4(BRCA2):c.6325G>T (p.Val2109Phe)
|
SNV Germline |
Chr13:32340680 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789070 |
rs_79456940 |
2 SubmittersRCV002368877 |
|
NM_000059.4(BRCA2):c.4600A>G (p.Ile1534Val)
|
SNV Germline |
Chr13:32338955 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781971 |
rs_2137508148 |
2 SubmittersRCV002342389 |
|
NM_000059.4(BRCA2):c.4607A>G (p.Lys1536Arg)
|
SNV Germline |
Chr13:32338962 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781994 |
rs_2137508225 |
2 SubmittersRCV002342416 |
|
NM_000059.4(BRCA2):c.4613C>A (p.Ser1538Tyr)
|
SNV Germline |
Chr13:32338968 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782020 |
rs_754643404 |
2 SubmittersRCV002342476 |
|
NM_000059.4(BRCA2):c.4641T>A (p.Asp1547Glu)
|
SNV Germline |
Chr13:32338996 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA387782145 |
rs_2137508622 |
5 SubmittersRCV002342614RCV003096396RCV003476958RCV005356100 |
|
NM_000059.4(BRCA2):c.4646A>C (p.Lys1549Thr)
|
SNV Germline |
Chr13:32339001 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782175 |
rs_2548528952 |
2 SubmittersRCV002335052 |
|
NM_000059.4(BRCA2):c.4658C>G (p.Thr1553Ser)
|
SNV Germline |
Chr13:32339013 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940804 |
rs_80358697 |
2 SubmittersRCV002335090 |
|
NM_000059.4(BRCA2):c.4848A>C (p.Leu1616Phe)
|
SNV Germline |
Chr13:32339203 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247508534 |
rs_876659259 |
3 SubmittersRCV002340255 |
|
NM_000059.4(BRCA2):c.1187C>T (p.Ser396Phe)
|
SNV Germline |
Chr13:32332665 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762010 |
rs_2137468510 |
2 SubmittersRCV002340447 |
|
NM_000059.4(BRCA2):c.4891A>G (p.Lys1631Glu)
|
SNV Germline |
Chr13:32339246 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940823 |
rs_748213879 |
2 SubmittersRCV002340549 |
|
NM_000059.4(BRCA2):c.4895G>A (p.Ser1632Asn)
|
SNV Germline |
Chr13:32339250 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783539 |
rs_1593903713 |
2 SubmittersRCV002340563 |
|
NM_000059.4(BRCA2):c.5114T>G (p.Ile1705Arg)
|
SNV Germline |
Chr13:32339469 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387784146 |
rs_2137514090 |
3 SubmittersRCV002336046RCV004804439 |
|
NM_000059.4(BRCA2):c.5127T>G (p.Asp1709Glu)
|
SNV Germline |
Chr13:32339482 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784168 |
rs_2137514214 |
2 SubmittersRCV002344208 |
|
NM_000059.4(BRCA2):c.5140T>A (p.Tyr1714Asn)
|
SNV Germline |
Chr13:32339495 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784196 |
rs_2137514343 |
2 SubmittersRCV002338205 |
|
NM_000059.4(BRCA2):c.5140T>C (p.Tyr1714His)
|
SNV Germline |
Chr13:32339495 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784195 |
rs_2137514343 |
2 SubmittersRCV002338206 |
|
NM_000059.4(BRCA2):c.5357G>C (p.Ser1786Thr)
|
SNV Germline |
Chr13:32339712 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785083 |
rs_2137516744 |
3 SubmittersRCV002346992RCV003645287 |
|
NM_000059.4(BRCA2):c.5380G>A (p.Val1794Ile)
|
SNV Germline |
Chr13:32339735 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785197 |
rs_2072528163 |
2 SubmittersRCV002347137 |
|
NM_000059.4(BRCA2):c.5386G>A (p.Asp1796Asn)
|
SNV Germline |
Chr13:32339741 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785235 |
rs_1064793715 |
2 SubmittersRCV002347153 |
|
NM_000059.4(BRCA2):c.5395G>T (p.Ala1799Ser)
|
SNV Germline |
Chr13:32339750 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785295 |
rs_2137517102 |
3 SubmittersRCV003096720RCV002347207 |
|
NM_000059.4(BRCA2):c.5419G>A (p.Asp1807Asn)
|
SNV Germline |
Chr13:32339774 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785412 |
rs_2137517363 |
2 SubmittersRCV002349456 |
|
NM_000059.4(BRCA2):c.5419G>T (p.Asp1807Tyr)
|
SNV Germline |
Chr13:32339774 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785410 |
rs_2137517363 |
2 SubmittersRCV002349457 |
|
NM_000059.4(BRCA2):c.5630A>T (p.Asn1877Ile)
|
SNV Germline |
Chr13:32339985 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786125 |
rs_2137519322 |
2 SubmittersRCV002345087 |
|
NM_000059.4(BRCA2):c.5635G>C (p.Glu1879Gln)
|
SNV Germline |
Chr13:32339990 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387786132 |
rs_55996097 |
3 SubmittersRCV002345104RCV004804444 |
|
NM_000059.4(BRCA2):c.5638A>G (p.Asn1880Asp)
|
SNV Germline |
Chr13:32339993 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786138 |
rs_2137519400 |
2 SubmittersRCV002345109 |
|
NM_000059.4(BRCA2):c.5655C>G (p.Cys1885Trp)
|
SNV Germline |
Chr13:32340010 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786170 |
rs_80358789 |
2 SubmittersRCV002345217 |
|
NM_000059.4(BRCA2):c.5657A>G (p.Gln1886Arg)
|
SNV Germline |
Chr13:32340012 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786174 |
rs_2137519595 |
2 SubmittersRCV002347294 |
|
NM_000059.4(BRCA2):c.5684A>C (p.Glu1895Ala)
|
SNV Germline |
Chr13:32340039 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786626 |
rs_2137519902 |
2 SubmittersRCV002347445 |
|
NM_000059.4(BRCA2):c.5917A>T (p.Asn1973Tyr)
|
SNV Germline |
Chr13:32340272 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787525 |
rs_1555284460 |
3 SubmittersRCV003098055RCV002355775 |
|
NM_000059.4(BRCA2):c.5933T>C (p.Phe1978Ser)
|
SNV Germline |
Chr13:32340288 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787554 |
rs_2137522439 |
3 SubmittersRCV002355891RCV005096869 |
|
NM_000059.4(BRCA2):c.5960A>C (p.Gln1987Pro)
|
SNV Germline |
Chr13:32340315 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787608 |
rs_1364714267 |
2 SubmittersRCV002356039 |
|
NM_000059.4(BRCA2):c.5971G>T (p.Ala1991Ser)
|
SNV Germline |
Chr13:32340326 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387787625 |
rs_2072543048 |
3 SubmittersRCV002356096RCV005096876 |
|
NM_000059.4(BRCA2):c.6221A>G (p.His2074Arg)
|
SNV Germline |
Chr13:32340576 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387788871 |
rs_2137525384 |
4 SubmittersRCV002366532RCV003098171RCV003321933 |
|
NM_000059.4(BRCA2):c.6254T>A (p.Leu2085Ter)
|
SNV Germline |
Chr13:32340609 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387788937 |
rs_864622082 |
1 SubmittersRCV002366689 |
|
NM_000059.4(BRCA2):c.6266A>G (p.Glu2089Gly)
|
SNV Germline |
Chr13:32340621 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788961 |
rs_2137525811 |
2 SubmittersRCV002368630 |
|
NM_000059.4(BRCA2):c.6514T>C (p.Ser2172Pro)
|
SNV Germline |
Chr13:32340869 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387789596 |
rs_1222261194 |
3 SubmittersRCV002364186RCV003493941 |
|
NM_000059.4(BRCA2):c.6520G>A (p.Val2174Ile)
|
SNV Germline |
Chr13:32340875 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387789616 |
rs_1593908972 |
3 SubmittersRCV002364241RCV004999714 |
|
NM_000059.4(BRCA2):c.6535G>A (p.Val2179Ile)
|
SNV Germline |
Chr13:32340890 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789694 |
rs_876658443 |
2 SubmittersRCV002364295 |
|
NM_000059.4(BRCA2):c.6547G>C (p.Glu2183Gln)
|
SNV Germline |
Chr13:32340902 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789762 |
rs_397507866 |
2 SubmittersRCV002364337 |
|
NM_000059.4(BRCA2):c.6560C>A (p.Pro2187His)
|
SNV Germline |
Chr13:32340915 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789830 |
rs_56019712 |
2 SubmittersRCV002364416 |
|
NM_000059.4(BRCA2):c.6563A>G (p.Lys2188Arg)
|
SNV Germline |
Chr13:32340918 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789847 |
rs_2548533620 |
2 SubmittersRCV002364424 |
|
NM_000059.4(BRCA2):c.6568G>C (p.Val2190Leu)
|
SNV Germline |
Chr13:32340923 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789884 |
rs_80358888 |
2 SubmittersRCV002364430 |
|
NM_000059.4(BRCA2):c.1226A>G (p.Glu409Gly)
|
SNV Germline |
Chr13:32332704 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762160 |
rs_2137468976 |
2 SubmittersRCV002364473 |
|
NM_000059.4(BRCA2):c.4580C>A (p.Ala1527Asp)
|
SNV Germline |
Chr13:32338935 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781898 |
rs_2137507943 |
2 SubmittersRCV002342209 |
|
NM_000059.4(BRCA2):c.4586G>C (p.Gly1529Ala)
|
SNV Germline |
Chr13:32338941 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387781924 |
rs_2072508418 |
4 SubmittersRCV002342241RCV004763379 |
|
NM_000059.4(BRCA2):c.4808A>G (p.Asn1603Ser)
|
SNV Germline |
Chr13:32339163 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783275 |
rs_890665355 |
2 SubmittersRCV002337918 |
|
NM_000059.4(BRCA2):c.4823A>C (p.Glu1608Ala)
|
SNV Germline |
Chr13:32339178 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940819 |
rs_766855850 |
3 SubmittersRCV002338033RCV004005676 |
|
NM_000059.4(BRCA2):c.4831G>A (p.Val1611Met)
|
SNV Germline |
Chr13:32339186 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783321 |
rs_1555283948 |
3 SubmittersRCV002338087RCV005096668 |
|
NM_000059.4(BRCA2):c.4834C>T (p.Pro1612Ser)
|
SNV Germline |
Chr13:32339189 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783330 |
rs_1479815532 |
2 SubmittersRCV002338098 |
|
NM_000059.4(BRCA2):c.5033A>G (p.Lys1678Arg)
|
SNV Germline |
Chr13:32339388 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783986 |
rs_28897733 |
3 SubmittersRCV002335634RCV003645283 |
|
NM_000059.4(BRCA2):c.5051C>T (p.Thr1684Ile)
|
SNV Germline |
Chr13:32339406 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784023 |
rs_80358729 |
2 SubmittersRCV002335739 |
|
NM_000059.4(BRCA2):c.5060T>C (p.Leu1687Pro)
|
SNV Germline |
Chr13:32339415 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784039 |
rs_2072519361 |
2 SubmittersRCV002335799 |
|
NM_000059.4(BRCA2):c.5085A>C (p.Glu1695Asp)
|
SNV Germline |
Chr13:32339440 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784087 |
rs_2137513857 |
2 SubmittersRCV002351465 |
|
NM_000059.4(BRCA2):c.5307T>A (p.Asp1769Glu)
|
SNV Germline |
Chr13:32339662 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784849 |
rs_767693329 |
2 SubmittersRCV002344620 |
|
NM_000059.4(BRCA2):c.5311G>A (p.Gly1771Ser)
|
SNV Germline |
Chr13:32339666 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784863 |
rs_1420648751 |
2 SubmittersRCV002344659 |
|
NM_000059.4(BRCA2):c.5563T>G (p.Ser1855Ala)
|
SNV Germline |
Chr13:32339918 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785979 |
rs_2137518630 |
2 SubmittersRCV002352012 |
|
NM_000059.4(BRCA2):c.5564C>G (p.Ser1855Ter)
|
SNV Germline |
Chr13:32339919 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387785983 |
rs_886038125 |
1 SubmittersRCV002352014 |
|
NM_000059.4(BRCA2):c.5577T>G (p.Ile1859Met)
|
SNV Germline |
Chr13:32339932 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786008 |
rs_2072532460 |
2 SubmittersRCV002344725 |
|
NM_000059.4(BRCA2):c.5583A>T (p.Lys1861Asn)
|
SNV Germline |
Chr13:32339938 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387786023 |
rs_749036329 |
3 SubmittersRCV002344763RCV003645290 |
|
NM_000059.4(BRCA2):c.5599A>G (p.Thr1867Ala)
|
SNV Germline |
Chr13:32339954 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786058 |
rs_2072533024 |
2 SubmittersRCV002344849 |
|
NM_000059.4(BRCA2):c.5617G>A (p.Val1873Ile)
|
SNV Germline |
Chr13:32339972 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387786099 |
rs_2072533593 |
4 SubmittersRCV002344986RCV003645291RCV005239381 |
|
NM_000059.4(BRCA2):c.5846A>T (p.Asp1949Val)
|
SNV Germline |
Chr13:32340201 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787377 |
rs_431825336 |
3 SubmittersRCV003645294RCV002353304 |
|
NM_000059.4(BRCA2):c.584C>A (p.Ser195Ter)
|
SNV Germline |
Chr13:32326566 |
Pathogenic |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387758077 |
rs_886038053 |
2 SubmittersRCV002353327RCV003454171 |
|
NM_000059.4(BRCA2):c.5854T>A (p.Leu1952Met)
|
SNV Germline |
Chr13:32340209 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787405 |
rs_2137521676 |
3 SubmittersRCV003530243RCV002353358 |
|
NM_000059.4(BRCA2):c.5874T>A (p.Cys1958Ter)
|
SNV Germline |
Chr13:32340229 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387787443 |
rs_1593906771 |
1 SubmittersRCV002353479 |
|
NM_000059.4(BRCA2):c.6157T>C (p.Ser2053Pro)
|
SNV Germline |
Chr13:32340512 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940931 |
rs_562893642 |
3 SubmittersRCV002360462RCV003103271 |
|
NM_000059.4(BRCA2):c.6182C>A (p.Ala2061Glu)
|
SNV Germline |
Chr13:32340537 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788402 |
rs_1566234087 |
2 SubmittersRCV002353781 |
|
NM_000059.4(BRCA2):c.6193C>G (p.Gln2065Glu)
|
SNV Germline |
Chr13:32340548 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788820 |
rs_2137525105 |
2 SubmittersRCV002353833 |
|
NM_000059.4(BRCA2):c.6421G>C (p.Gly2141Arg)
|
SNV Germline |
Chr13:32340776 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789276 |
rs_907252547 |
2 SubmittersRCV002361682 |
|
NM_000059.4(BRCA2):c.6425C>A (p.Ser2142Tyr)
|
SNV Germline |
Chr13:32340780 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789282 |
rs_2137527441 |
2 SubmittersRCV002361694 |
|
NM_000059.4(BRCA2):c.6443C>G (p.Ser2148Cys)
|
SNV Germline |
Chr13:32340798 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789317 |
rs_80358880 |
2 SubmittersRCV002361804 |
|
NM_000059.4(BRCA2):c.6463C>A (p.Leu2155Ile)
|
SNV Germline |
Chr13:32340818 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247513851 |
rs_775035051 |
2 SubmittersRCV002361913 |
|
NM_000059.4(BRCA2):c.6477A>C (p.Gln2159His)
|
SNV Germline |
Chr13:32340832 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789424 |
rs_1566234713 |
3 SubmittersRCV002356186RCV003530246 |
|
NM_000059.4(BRCA2):c.6480A>C (p.Gln2160His)
|
SNV Germline |
Chr13:32340835 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789441 |
rs_2137527978 |
2 SubmittersRCV002356209 |
|
NM_000059.4(BRCA2):c.6742C>A (p.His2248Asn)
|
SNV Germline |
Chr13:32341097 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791108 |
rs_1350512388 |
2 SubmittersRCV002377944 |
|
NM_000059.4(BRCA2):c.6742C>T (p.His2248Tyr)
|
SNV Germline |
Chr13:32341097 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387791111 |
rs_1350512388 |
4 SubmittersRCV002377945RCV003530248RCV003607477 |
|
NM_000059.4(BRCA2):c.4490T>G (p.Val1497Gly)
|
SNV Germline |
Chr13:32338845 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781544 |
rs_80358681 |
3 SubmittersRCV002328622RCV003094728 |
|
NM_000059.4(BRCA2):c.4517T>C (p.Phe1506Ser)
|
SNV Germline |
Chr13:32338872 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781644 |
rs_2548528564 |
4 SubmittersRCV002339961RCV003138188RCV005058378 |
|
NM_000059.4(BRCA2):c.4526A>C (p.Gln1509Pro)
|
SNV Germline |
Chr13:32338881 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781680 |
rs_764435740 |
2 SubmittersRCV002328728 |
|
NM_000059.4(BRCA2):c.4528C>T (p.Pro1510Ser)
|
SNV Germline |
Chr13:32338883 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781689 |
rs_2137507279 |
3 SubmittersRCV002340023RCV005096585 |
|
NM_000059.4(BRCA2):c.4720A>G (p.Lys1574Glu)
|
SNV Germline |
Chr13:32339075 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782973 |
rs_2137509444 |
2 SubmittersRCV002335411 |
|
NM_000059.4(BRCA2):c.4724A>G (p.Asp1575Gly)
|
SNV Germline |
Chr13:32339079 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782989 |
rs_2137509506 |
2 SubmittersRCV002335425 |
|
NM_000059.4(BRCA2):c.4741G>T (p.Glu1581Ter)
|
SNV Germline |
Chr13:32339096 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387783057 |
rs_368952892 |
1 SubmittersRCV002335524 |
|
NM_000059.4(BRCA2):c.4742A>G (p.Glu1581Gly)
|
SNV Germline |
Chr13:32339097 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783062 |
rs_2137509728 |
2 SubmittersRCV002335525 |
|
NM_000059.4(BRCA2):c.4763C>T (p.Ala1588Val)
|
SNV Germline |
Chr13:32339118 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783139 |
rs_2137509940 |
3 SubmittersRCV002337679RCV003645280 |
|
NM_000059.4(BRCA2):c.4770G>T (p.Lys1590Asn)
|
SNV Germline |
Chr13:32339125 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783165 |
rs_2137510051 |
2 SubmittersRCV002337733 |
|
NM_000059.4(BRCA2):c.4787A>G (p.Asn1596Ser)
|
SNV Germline |
Chr13:32339142 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783228 |
rs_2137510204 |
3 SubmittersRCV002337790 |
|
NM_000059.4(BRCA2):c.4984T>C (p.Ser1662Pro)
|
SNV Germline |
Chr13:32339339 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783872 |
rs_2137512426 |
3 SubmittersRCV002351356RCV005096709 |
|
NM_000059.4(BRCA2):c.5216A>C (p.Tyr1739Ser)
|
SNV Germline |
Chr13:32339571 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784626 |
rs_2072523751 |
3 SubmittersRCV002340792RCV003096657 |
|
NM_000059.4(BRCA2):c.5234T>C (p.Met1745Thr)
|
SNV Germline |
Chr13:32339589 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784666 |
rs_2137515418 |
2 SubmittersRCV002344321 |
|
NM_000059.4(BRCA2):c.5246A>G (p.Tyr1749Cys)
|
SNV Germline |
Chr13:32339601 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940859 |
rs_55828982 |
3 SubmittersRCV002340919RCV003776071 |
|
NM_000059.4(BRCA2):c.5266G>A (p.Val1756Ile)
|
SNV Germline |
Chr13:32339621 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387784735 |
rs_876659138 |
3 SubmittersRCV002341047RCV003645286 |
|
NM_000059.4(BRCA2):c.1198C>T (p.Leu400Phe)
|
SNV Germline |
Chr13:32332676 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762052 |
rs_1413065373 |
3 SubmittersRCV003530240RCV002344409 |
|
NM_000059.4(BRCA2):c.5491A>T (p.Ile1831Leu)
|
SNV Germline |
Chr13:32339846 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785760 |
rs_1593905631 |
3 SubmittersRCV002351552RCV005096794 |
|
NM_000059.4(BRCA2):c.5506A>G (p.Asn1836Asp)
|
SNV Germline |
Chr13:32339861 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785821 |
rs_2137518120 |
2 SubmittersRCV002351698 |
|
NM_000059.4(BRCA2):c.5531T>A (p.Phe1844Tyr)
|
SNV Germline |
Chr13:32339886 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785918 |
rs_2137518345 |
2 SubmittersRCV002351836 |
|
NM_000059.4(BRCA2):c.5779G>A (p.Glu1927Lys)
|
SNV Germline |
Chr13:32340134 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787134 |
rs_886038131 |
2 SubmittersRCV002359698 |
|
NM_000059.4(BRCA2):c.5803A>T (p.Asn1935Tyr)
|
SNV Germline |
Chr13:32340158 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787222 |
rs_2137521147 |
2 SubmittersRCV002359900 |
|
NM_000059.4(BRCA2):c.5813G>A (p.Gly1938Glu)
|
SNV Germline |
Chr13:32340168 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787259 |
rs_41293499 |
2 SubmittersRCV002353122 |
|
NM_000059.4(BRCA2):c.5816T>C (p.Leu1939Ser)
|
SNV Germline |
Chr13:32340171 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787269 |
rs_2072539219 |
2 SubmittersRCV002353133 |
|
NM_000059.4(BRCA2):c.6094G>C (p.Ala2032Pro)
|
SNV Germline |
Chr13:32340449 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788070 |
rs_786203284 |
2 SubmittersRCV002360071 |
|
NM_000059.4(BRCA2):c.6097A>T (p.Ile2033Leu)
|
SNV Germline |
Chr13:32340452 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788080 |
rs_772846629 |
2 SubmittersRCV002360080 |
|
NM_000059.4(BRCA2):c.6107C>G (p.Pro2036Arg)
|
SNV Germline |
Chr13:32340462 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387788115 |
rs_1455395828 |
3 SubmittersRCV002360196RCV003098140 |
|
NM_000059.4(BRCA2):c.6371A>C (p.Lys2124Thr)
|
SNV Germline |
Chr13:32340726 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789172 |
rs_2137526799 |
3 SubmittersRCV002354046RCV003776247 |
|
NM_000059.4(BRCA2):c.6388T>A (p.Phe2130Ile)
|
SNV Germline |
Chr13:32340743 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789206 |
rs_929941099 |
2 SubmittersRCV002354085 |
|
NM_000059.4(BRCA2):c.6417A>C (p.Glu2139Asp)
|
SNV Germline |
Chr13:32340772 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789270 |
rs_1425360495 |
2 SubmittersRCV002361652 |
|
NM_000059.4(BRCA2):c.6590C>T (p.Thr2197Ile)
|
SNV Germline |
Chr13:32340945 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790023 |
rs_1566234984 |
2 SubmittersRCV002375807 |
|
NM_000059.4(BRCA2):c.6592G>C (p.Glu2198Gln)
|
SNV Germline |
Chr13:32340947 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790032 |
rs_1555284766 |
2 SubmittersRCV002364542 |
|
NM_000059.4(BRCA2):c.6593A>G (p.Glu2198Gly)
|
SNV Germline |
Chr13:32340948 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940969 |
rs_769139609 |
2 SubmittersRCV002375811 |
|
NM_000059.4(BRCA2):c.6638C>A (p.Ser2213Tyr)
|
SNV Germline |
Chr13:32340993 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790319 |
rs_75925841 |
2 SubmittersRCV002375915 |
|
NM_000059.4(BRCA2):c.7618-187G>T
|
SNV Germline |
Chr13:32357555 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA247470669 |
rs_990732816 |
1 SubmittersRCV002396242 |
|
NM_000059.4(BRCA2):c.7949A>G (p.Glu2650Gly)
|
SNV Germline |
Chr13:32362666 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387747241 |
rs_2137577775 |
2 SubmittersRCV002416848RCV003645302 |
|
NM_000059.4(BRCA2):c.797T>A (p.Phe266Tyr)
|
SNV Germline |
Chr13:32332275 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760338 |
rs_1566222067 |
2 SubmittersRCV002419044 |
|
NM_000059.4(BRCA2):c.8309C>G (p.Ala2770Gly)
|
SNV Germline |
Chr13:32363511 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387750206 |
rs_28897750 |
2 SubmittersRCV002430365RCV005097215 |
|
NM_000059.4(BRCA2):c.8316A>T (p.Glu2772Asp)
|
SNV Germline |
Chr13:32363518 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387750237 |
rs_1555287084 |
2 SubmittersRCV002430397RCV004999726 |
|
NM_000059.4(BRCA2):c.8332-3384A>T
|
SNV Germline |
Chr13:32367018 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA2580087515 |
rs_2072787542 |
2 SubmittersRCV002434646RCV005097222 |
|
NM_000059.4(BRCA2):c.8392C>A (p.Pro2798Thr)
|
SNV Germline |
Chr13:32370462 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752480 |
rs_750640009 |
2 SubmittersRCV002434855RCV005058538 |
|
NM_000059.4(BRCA2):c.881A>C (p.Glu294Ala)
|
SNV Germline |
Chr13:32332359 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760640 |
rs_753352530 |
2 SubmittersRCV002373746 |
|
NM_000059.4(BRCA2):c.920G>T (p.Ser307Ile)
|
SNV Germline |
Chr13:32332398 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760733 |
rs_2548519116 |
2 SubmittersRCV002371257 |
|
NM_000059.4(BRCA2):c.9226G>T (p.Gly3076Ter)
|
SNV Germline |
Chr13:32380115 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387758505 |
rs_1566253644 |
1 SubmittersRCV002371303 |
|
NM_000059.4(BRCA2):c.9235G>T (p.Val3079Phe)
|
SNV Germline |
Chr13:32380124 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247495088 |
rs_55933907 |
2 SubmittersRCV002371326 |
|
NM_000059.4(BRCA2):c.9257-1G>T
|
SNV Germline |
Chr13:32394688 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387760710 |
rs_81002889 |
1 SubmittersRCV002371400 |
|
NM_000059.4(BRCA2):c.925T>C (p.Ser309Pro)
|
SNV Germline |
Chr13:32332403 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760753 |
rs_2137465924 |
3 SubmittersRCV002371421RCV005097321 |
|
NM_000059.4(BRCA2):c.9280T>G (p.Ser3094Ala)
|
SNV Germline |
Chr13:32394712 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387760803 |
rs_2137652091 |
3 SubmittersRCV002371470RCV003645308RCV004007283 |
|
NM_000059.4(BRCA2):c.929T>A (p.Leu310Ter)
|
SNV Germline |
Chr13:32332407 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387760764 |
rs_2072400713 |
2 SubmittersRCV002371506RCV005097324 |
|
NM_000059.4(BRCA2):c.6820G>A (p.Gly2274Arg)
|
SNV Germline |
Chr13:32341175 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387791437 |
rs_2137530916 |
3 SubmittersRCV002369605RCV005097020 |
|
NM_000059.4(BRCA2):c.682-1G>A
|
SNV Germline |
Chr13:32330918 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387759828 |
rs_81002831 |
1 SubmittersRCV002369608 |
|
NM_000059.4(BRCA2):c.682-3C>G
|
SNV Germline |
Chr13:32330916 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA2580087064 |
rs_1244178555 |
1 SubmittersRCV002369616 |
|
NM_000059.4(BRCA2):c.6823G>C (p.Glu2275Gln)
|
SNV Germline |
Chr13:32341178 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387791443 |
rs_587782362 |
3 SubmittersRCV002369620RCV003098396 |
|
NM_000059.4(BRCA2):c.6830T>G (p.Leu2277Arg)
|
SNV Germline |
Chr13:32341185 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247514714 |
rs_1043681551 |
2 SubmittersRCV002369656 |
|
NM_000059.4(BRCA2):c.6833T>C (p.Ile2278Thr)
|
SNV Germline |
Chr13:32341188 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387791487 |
rs_1555284865 |
3 SubmittersRCV002362030RCV003645296 |
|
NM_000059.4(BRCA2):c.1238T>C (p.Leu413Pro)
|
SNV Germline |
Chr13:32332716 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762223 |
rs_2072407340 |
3 SubmittersRCV002378377RCV003645297 |
|
NM_000059.4(BRCA2):c.7538C>T (p.Ala2513Val)
|
SNV Germline |
Chr13:32356530 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387743619 |
rs_1060502401 |
2 SubmittersRCV002393907RCV003099671 |
|
NM_000059.4(BRCA2):c.7831G>A (p.Asp2611Asn)
|
SNV Germline |
Chr13:32362548 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387747004 |
rs_2072744827 |
2 SubmittersRCV002412124RCV003099759 |
|
NM_000059.4(BRCA2):c.7849A>C (p.Arg2617=)
|
SNV Germline |
Chr13:32362566 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA483260875 |
rs_587782588 |
2 SubmittersRCV002412186RCV005356109 |
|
NM_000059.4(BRCA2):c.7862A>G (p.Tyr2621Cys)
|
SNV Germline |
Chr13:32362579 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387747072 |
rs_1566244772 |
3 SubmittersRCV002412239RCV003492758RCV003099763 |
|
NM_000059.4(BRCA2):c.787A>C (p.Ser263Arg)
|
SNV Germline |
Chr13:32331024 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760242 |
rs_2137462310 |
2 SubmittersRCV002412295RCV003099770 |
|
NM_000059.4(BRCA2):c.7901T>A (p.Met2634Lys)
|
SNV Germline |
Chr13:32362618 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387747146 |
rs_786202102 |
3 SubmittersRCV002416658RCV003776455 |
|
NM_000059.4(BRCA2):c.8680C>G (p.Gln2894Glu)
|
SNV Germline |
Chr13:32376717 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387754766 |
rs_397508002 |
2 SubmittersRCV002449692RCV004005777 |
|
NM_000059.4(BRCA2):c.8715T>G (p.Tyr2905Ter)
|
SNV Germline |
Chr13:32376752 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387754928 |
rs_45555831 |
1 SubmittersRCV002373462 |
|
NM_000059.4(BRCA2):c.9102G>T (p.Gln3034His)
|
SNV Germline |
Chr13:32379898 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387757699 |
rs_1336395181 |
3 SubmittersRCV002378654RCV003100098RCV003464500 |
|
NM_000059.4(BRCA2):c.9107A>G (p.Gln3036Arg)
|
SNV Germline |
Chr13:32379903 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387757713 |
rs_2137623768 |
2 SubmittersRCV002378658RCV003645307 |
|
NM_000059.4(BRCA2):c.9180T>G (p.Phe3060Leu)
|
SNV Germline |
Chr13:32380069 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387758066 |
rs_777390929 |
2 SubmittersRCV002378900RCV003100115 |
|
NM_000059.4(BRCA2):c.1274A>C (p.Glu425Ala)
|
SNV Germline |
Chr13:32332752 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762393 |
rs_768169574 |
2 SubmittersRCV002378927 |
|
NM_000059.4(BRCA2):c.958C>A (p.Leu320Ile)
|
SNV Germline |
Chr13:32332436 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760875 |
rs_2137466262 |
2 SubmittersRCV002385244 |
|
NM_000059.4(BRCA2):c.9649-12T>G
|
SNV Germline |
Chr13:32398150 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA2580087428 |
rs_2137662441 |
1 SubmittersRCV002385377 |
|
NM_000059.4(BRCA2):c.966A>T (p.Lys322Asn)
|
SNV Germline |
Chr13:32332444 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760905 |
rs_879255473 |
2 SubmittersRCV002376528 |
|
NM_000059.4(BRCA2):c.1280A>C (p.Asp427Ala)
|
SNV Germline |
Chr13:32332758 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762428 |
rs_1555281813 |
2 SubmittersRCV002386988 |
|
NM_000059.4(BRCA2):c.6757C>T (p.Leu2253Phe)
|
SNV Germline |
Chr13:32341112 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387791168 |
rs_1555284846 |
4 SubmittersRCV002369239RCV003776308RCV004005736 |
|
NM_000059.4(BRCA2):c.6767G>C (p.Cys2256Ser)
|
SNV Germline |
Chr13:32341122 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791206 |
rs_80358900 |
2 SubmittersRCV002369289 |
|
NM_000059.4(BRCA2):c.6769C>A (p.Pro2257Thr)
|
SNV Germline |
Chr13:32341124 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791212 |
rs_1566235374 |
2 SubmittersRCV002369291 |
|
NM_000059.4(BRCA2):c.6776A>T (p.Asn2259Ile)
|
SNV Germline |
Chr13:32341131 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791245 |
rs_2137530596 |
2 SubmittersRCV002369336 |
|
NM_000059.4(BRCA2):c.6797A>G (p.Asn2266Ser)
|
SNV Germline |
Chr13:32341152 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791337 |
rs_2072565540 |
2 SubmittersRCV002369443 |
|
NM_000059.4(BRCA2):c.6799T>A (p.Ser2267Thr)
|
SNV Germline |
Chr13:32341154 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791343 |
rs_2137530762 |
2 SubmittersRCV002369448 |
|
NM_000059.4(BRCA2):c.6806T>A (p.Ile2269Asn)
|
SNV Germline |
Chr13:32341161 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791370 |
rs_398122564 |
2 SubmittersRCV002369512 |
|
NM_000059.4(BRCA2):c.6813A>T (p.Lys2271Asn)
|
SNV Germline |
Chr13:32341168 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791402 |
rs_2548534132 |
2 SubmittersRCV002369555 |
|
NM_000059.4(BRCA2):c.6814A>G (p.Arg2272Gly)
|
SNV Germline |
Chr13:32341169 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791406 |
rs_2137530879 |
2 SubmittersRCV002369558 |
|
NM_000059.4(BRCA2):c.7089T>G (p.Tyr2363Ter)
|
SNV Germline |
Chr13:32354942 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387738531 |
rs_2137555835 |
1 SubmittersRCV002367256 |
|
NM_000059.4(BRCA2):c.7442T>G (p.Ile2481Ser)
|
SNV Germline |
Chr13:32356434 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387742987 |
rs_2137561711 |
2 SubmittersRCV002385081RCV003103404 |
|
NM_000059.4(BRCA2):c.8146G>A (p.Val2716Met)
|
SNV Germline |
Chr13:32363348 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749499 |
rs_777094216 |
2 SubmittersRCV002421378RCV003099848 |
|
NM_000059.4(BRCA2):c.8557A>G (p.Lys2853Glu)
|
SNV Germline |
Chr13:32371025 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752791 |
rs_1057517865 |
2 SubmittersRCV002414476RCV003530255 |
|
NM_000059.4(BRCA2):c.8560T>C (p.Tyr2854His)
|
SNV Germline |
Chr13:32371028 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Hereditary cancer |
Criteria Provided Conflicting Classifications |
CA387752797 |
rs_2137600401 |
3 SubmittersRCV002447867RCV003099973RCV004698869 |
|
NM_000059.4(BRCA2):c.8579A>G (p.Lys2860Arg)
|
SNV Germline |
Chr13:32371047 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752835 |
rs_2137600643 |
2 SubmittersRCV002447889RCV005058544 |
|
NM_000059.4(BRCA2):c.8614G>T (p.Glu2872Ter)
|
SNV Germline |
Chr13:32371082 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387752938 |
rs_1555287788 |
1 SubmittersRCV002448023 |
|
NM_000059.4(BRCA2):c.9017A>G (p.Tyr3006Cys)
|
SNV Germline |
Chr13:32379813 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387757475 |
rs_2137622663 |
2 SubmittersRCV002376406RCV004005787 |
|
NM_000059.4(BRCA2):c.9061G>T (p.Glu3021Ter)
|
SNV Germline |
Chr13:32379857 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387757561 |
rs_1182648647 |
1 SubmittersRCV002378527 |
|
NM_000059.4(BRCA2):c.950C>A (p.Thr317Lys)
|
SNV Germline |
Chr13:32332428 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387760847 |
rs_1341473353 |
4 SubmittersRCV002374171RCV005097348RCV004545311 |
|
NM_000059.4(BRCA2):c.6670G>C (p.Glu2224Gln)
|
SNV Germline |
Chr13:32341025 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387790517 |
rs_2137529623 |
3 SubmittersRCV002366965RCV005096979 |
|
NM_000059.4(BRCA2):c.6673A>G (p.Thr2225Ala)
|
SNV Germline |
Chr13:32341028 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387790533 |
rs_2137529657 |
3 SubmittersRCV002366973RCV003108048 |
|
NM_000059.4(BRCA2):c.6683T>G (p.Val2228Gly)
|
SNV Germline |
Chr13:32341038 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790572 |
rs_80358894 |
2 SubmittersRCV002367028 |
|
NM_000059.4(BRCA2):c.6690T>G (p.Ile2230Met)
|
SNV Germline |
Chr13:32341045 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA247514347 |
rs_919611062 |
2 SubmittersRCV002367074 |
|
NM_000059.4(BRCA2):c.67+3A>C
|
SNV Germline |
Chr13:32316530 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA2580086959 |
rs_1593880835 |
1 SubmittersRCV002367167 |
|
NM_000059.4(BRCA2):c.67+5T>C
|
SNV Germline |
Chr13:32316532 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA609083265 |
rs_587781738 |
2 SubmittersRCV002367168RCV003098339 |
|
NM_000059.4(BRCA2):c.6728C>A (p.Ser2243Tyr)
|
SNV Germline |
Chr13:32341083 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791064 |
rs_876659031 |
2 SubmittersRCV002375930 |
|
NM_000059.4(BRCA2):c.7322G>A (p.Gly2441Asp)
|
SNV Germline |
Chr13:32355175 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA247468704 |
rs_80358958 |
2 SubmittersRCV002380121RCV003103388 |
|
NM_000059.4(BRCA2):c.7334G>C (p.Ser2445Thr)
|
SNV Germline |
Chr13:32355187 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387741223 |
rs_2072682728 |
3 SubmittersRCV002380188RCV003098548RCV004572348 |
|
NM_000059.4(BRCA2):c.7672G>A (p.Glu2558Lys)
|
SNV Germline |
Chr13:32357796 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387745055 |
rs_886037816 |
2 SubmittersRCV002400456RCV005097145 |
|
NM_000059.4(BRCA2):c.8011G>A (p.Ala2671Thr)
|
SNV Germline |
Chr13:32363213 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387748752 |
rs_786201976 |
2 SubmittersRCV002419230RCV003645303 |
|
NM_000059.4(BRCA2):c.8048C>G (p.Ala2683Gly)
|
SNV Germline |
Chr13:32363250 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749049 |
rs_2137580251 |
2 SubmittersRCV002419311RCV005097185 |
|
NM_000059.4(BRCA2):c.805A>G (p.Thr269Ala)
|
SNV Germline |
Chr13:32332283 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760373 |
rs_1217128211 |
2 SubmittersRCV002419344 |
|
NM_000059.4(BRCA2):c.809C>A (p.Ser270Ter)
|
SNV Germline |
Chr13:32332287 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387760388 |
rs_276174902 |
2 SubmittersRCV002419462RCV005097193 |
|
NM_000059.4(BRCA2):c.8488-14A>G
|
SNV Germline |
Chr13:32370942 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome 8 conditions |
Criteria Provided Conflicting Classifications |
CA2082815184 |
rs_1555287728 |
2 SubmittersRCV002447650RCV005397402 |
|
NM_000059.4(BRCA2):c.892A>C (p.Thr298Pro)
|
SNV Germline |
Chr13:32332370 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760662 |
rs_2137465582 |
2 SubmittersRCV002449865 |
|
NM_000059.4(BRCA2):c.938C>G (p.Ser313Cys)
|
SNV Germline |
Chr13:32332416 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760800 |
rs_397507428 |
3 SubmittersRCV002373861RCV005097332 |
|
NM_000059.4(BRCA2):c.9406C>G (p.Leu3136Val)
|
SNV Germline |
Chr13:32394838 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387761387 |
rs_2137653701 |
3 SubmittersRCV002373951RCV002508359 |
|
NM_000059.4(BRCA2):c.1278A>C (p.Lys426Asn)
|
SNV Germline |
Chr13:32332756 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762416 |
rs_2548519930 |
2 SubmittersRCV002443451 |
|
NM_000059.4(BRCA2):c.9732C>T (p.Val3244=)
|
SNV Germline |
Chr13:32398245 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483439949 |
rs_2137663318 |
2 SubmittersRCV002387065RCV003094865 |
|
NM_000059.4(BRCA2):c.995T>C (p.Ile332Thr)
|
SNV Germline |
Chr13:32332473 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387761019 |
rs_1555281682 |
3 SubmittersRCV002382953RCV002481082 |
|
NM_000059.4(BRCA2):c.1346T>G (p.Ile449Ser)
|
SNV Germline |
Chr13:32332824 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762755 |
rs_55955023 |
2 SubmittersRCV002387832 |
|
NM_000059.4(BRCA2):c.1355T>A (p.Leu452Gln)
|
SNV Germline |
Chr13:32332833 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762800 |
rs_753512842 |
2 SubmittersRCV002383350 |
|
NM_000059.4(BRCA2):c.1357C>T (p.Pro453Ser)
|
SNV Germline |
Chr13:32332835 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762813 |
rs_1566223373 |
2 SubmittersRCV002383383 |
|
NM_000059.4(BRCA2):c.1504A>T (p.Lys502Ter)
|
SNV Germline |
Chr13:32332982 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387764498 |
rs_276174809 |
1 SubmittersRCV002389975 |
|
NM_000059.4(BRCA2):c.1508A>G (p.Lys503Arg)
|
SNV Germline |
Chr13:32332986 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764514 |
rs_1593893082 |
2 SubmittersRCV002390035 |
|
NM_000059.4(BRCA2):c.1511C>A (p.Ser504Tyr)
|
SNV Germline |
Chr13:32332989 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764524 |
rs_886037807 |
2 SubmittersRCV002392213 |
|
NM_000059.4(BRCA2):c.1666A>C (p.Asn556His)
|
SNV Germline |
Chr13:32333144 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387765051 |
rs_587781794 |
3 SubmittersRCV002403891RCV003645316 |
|
NM_000059.4(BRCA2):c.1673T>A (p.Ile558Asn)
|
SNV Germline |
Chr13:32333151 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765097 |
rs_2137473781 |
2 SubmittersRCV002405910 |
|
NM_000059.4(BRCA2):c.981G>T (p.Lys327Asn)
|
SNV Germline |
Chr13:32332459 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760956 |
rs_751890878 |
2 SubmittersRCV002376844 |
|
NM_000059.4(BRCA2):c.1028A>G (p.Lys343Arg)
|
SNV Germline |
Chr13:32332506 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387761158 |
rs_2548519388 |
3 SubmittersRCV002385850RCV004804459 |
|
NM_000059.4(BRCA2):c.1334C>T (p.Ser445Phe)
|
SNV Germline |
Chr13:32332812 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762699 |
rs_786202373 |
2 SubmittersRCV002387564 |
|
NM_000059.4(BRCA2):c.1343G>C (p.Arg448Pro)
|
SNV Germline |
Chr13:32332821 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762740 |
rs_80358423 |
3 SubmittersRCV002387761RCV003103654 |
|
NM_000059.4(BRCA2):c.1480G>T (p.Val494Leu)
|
SNV Germline |
Chr13:32332958 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387764421 |
rs_1555281919 |
3 SubmittersRCV002397137RCV003645313 |
|
NM_000059.4(BRCA2):c.1487C>A (p.Ser496Tyr)
|
SNV Germline |
Chr13:32332965 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764441 |
rs_397507269 |
2 SubmittersRCV002389606 |
|
NM_000059.4(BRCA2):c.1562C>G (p.Ser521Ter)
|
SNV Germline |
Chr13:32333040 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387764706 |
rs_2137472667 |
2 SubmittersRCV002405437RCV003530260 |
|
NM_000059.4(BRCA2):c.1562C>T (p.Ser521Leu)
|
SNV Germline |
Chr13:32333040 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764707 |
rs_2137472667 |
2 SubmittersRCV002405440 |
|
NM_000059.4(BRCA2):c.1579C>G (p.Pro527Ala)
|
SNV Germline |
Chr13:32333057 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764759 |
rs_758025325 |
2 SubmittersRCV002392642 |
|
NM_000059.4(BRCA2):c.1639T>C (p.Ser547Pro)
|
SNV Germline |
Chr13:32333117 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764959 |
rs_1593893412 |
2 SubmittersRCV002403516 |
|
NM_000059.4(BRCA2):c.1654T>A (p.Ser552Thr)
|
SNV Germline |
Chr13:32333132 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387765009 |
rs_1339661429 |
3 SubmittersRCV002395050RCV003097066 |
|
NM_000059.4(BRCA2):c.1654T>G (p.Ser552Ala)
|
SNV Germline |
Chr13:32333132 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765011 |
rs_1339661429 |
2 SubmittersRCV002395052 |
|
NM_000059.4(BRCA2):c.1729G>C (p.Ala577Pro)
|
SNV Germline |
Chr13:32333207 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765379 |
rs_2072420568 |
2 SubmittersRCV002414859 |
|
NM_000059.4(BRCA2):c.1057T>C (p.Ser353Pro)
|
SNV Germline |
Chr13:32332535 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761322 |
rs_2137467235 |
2 SubmittersRCV002407438 |
|
NM_000059.4(BRCA2):c.1466C>A (p.Ser489Tyr)
|
SNV Germline |
Chr13:32332944 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764382 |
rs_587782535 |
2 SubmittersRCV002396833 |
|
NM_000059.4(BRCA2):c.1540G>C (p.Glu514Gln)
|
SNV Germline |
Chr13:32333018 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764624 |
rs_2137472471 |
2 SubmittersRCV002403171 |
|
NM_000059.4(BRCA2):c.1556G>C (p.Ser519Thr)
|
SNV Germline |
Chr13:32333034 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764682 |
rs_2548520519 |
2 SubmittersRCV002403463 |
|
NM_000059.4(BRCA2):c.1628A>C (p.His543Pro)
|
SNV Germline |
Chr13:32333106 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764921 |
rs_1555281992 |
2 SubmittersRCV002401190 |
|
NM_000059.4(BRCA2):c.1705C>G (p.Gln569Glu)
|
SNV Germline |
Chr13:32333183 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765263 |
rs_397507274 |
2 SubmittersRCV002414730 |
|
NM_000059.4(BRCA2):c.1712C>T (p.Ser571Phe)
|
SNV Germline |
Chr13:32333190 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765305 |
rs_2137474144 |
2 SubmittersRCV002398927 |
|
NM_000059.4(BRCA2):c.1791A>C (p.Glu597Asp)
|
SNV Germline |
Chr13:32333269 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765788 |
rs_2137474931 |
2 SubmittersRCV002404213 |
|
NM_000059.4(BRCA2):c.1883C>T (p.Pro628Leu)
|
SNV Germline |
Chr13:32333361 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387766679 |
rs_2137475977 |
5 SubmittersRCV002415344RCV003100915RCV003493950RCV004999749 |
|
NM_000059.4(BRCA2):c.1294G>C (p.Glu432Gln)
|
SNV Germline |
Chr13:32332772 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762494 |
rs_2137469719 |
3 SubmittersRCV002380618RCV003094926 |
|
NM_000059.4(BRCA2):c.1372C>T (p.Pro458Ser)
|
SNV Germline |
Chr13:32332850 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387762933 |
rs_1415796889 |
3 SubmittersRCV002383730RCV005058600 |
|
NM_000059.4(BRCA2):c.1373C>T (p.Pro458Leu)
|
SNV Germline |
Chr13:32332851 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762938 |
rs_2137470775 |
2 SubmittersRCV002383753 |
|
NM_000059.4(BRCA2):c.1436A>T (p.Asp479Val)
|
SNV Germline |
Chr13:32332914 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764288 |
rs_1555281910 |
2 SubmittersRCV002394277 |
|
NM_000059.4(BRCA2):c.1523T>C (p.Ile508Thr)
|
SNV Germline |
Chr13:32333001 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387764566 |
rs_2548520440 |
3 SubmittersRCV002392485RCV004007329 |
|
NM_000059.4(BRCA2):c.1003G>T (p.Glu335Ter)
|
SNV Germline |
Chr13:32332481 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387761059 |
rs_2137466741 |
1 SubmittersRCV002398747 |
|
NM_000059.4(BRCA2):c.1760C>A (p.Thr587Lys)
|
SNV Germline |
Chr13:32333238 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765567 |
rs_786203316 |
2 SubmittersRCV002407602 |
|
NM_000059.4(BRCA2):c.1770T>G (p.Phe590Leu)
|
SNV Germline |
Chr13:32333248 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387765632 |
rs_1214812785 |
3 SubmittersRCV002401828RCV003476992 |
|
NM_000059.4(BRCA2):c.1064T>G (p.Val355Gly)
|
SNV Germline |
Chr13:32332542 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387761366 |
rs_1593891845 |
3 SubmittersRCV002413025RCV003645320 |
|
NM_000059.4(BRCA2):c.1861G>T (p.Glu621Ter)
|
SNV Germline |
Chr13:32333339 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387766465 |
rs_2137475784 |
1 SubmittersRCV002414934 |
|
NM_000059.4(BRCA2):c.1868A>G (p.Asn623Ser)
|
SNV Germline |
Chr13:32333346 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766534 |
rs_2137475856 |
2 SubmittersRCV002415019 |
|
NM_000059.4(BRCA2):c.1835A>T (p.Glu612Val)
|
SNV Germline |
Chr13:32333313 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387766211 |
rs_2137475426 |
4 SubmittersRCV002412716RCV004007370 |
|
NM_000059.4(BRCA2):c.1841T>G (p.Ile614Ser)
|
SNV Germline |
Chr13:32333319 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766291 |
rs_1566224476 |
2 SubmittersRCV002412863 |
|
NM_000059.4(BRCA2):c.1843A>C (p.Asn615His)
|
SNV Germline |
Chr13:32333321 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940545 |
rs_777641881 |
3 SubmittersRCV002412880RCV003530262 |
|
NM_000059.4(BRCA2):c.1963C>T (p.Pro655Ser)
|
SNV Germline |
Chr13:32336318 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768504 |
rs_1566225847 |
2 SubmittersRCV002423356 |
|
NM_000059.4(BRCA2):c.2168G>A (p.Ser723Asn)
|
SNV Germline |
Chr13:32336523 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770277 |
rs_2137483887 |
2 SubmittersRCV002432672 |
|
NM_000059.4(BRCA2):c.2170A>T (p.Lys724Ter)
|
SNV Germline |
Chr13:32336525 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387770288 |
rs_2137483902 |
2 SubmittersRCV002432729RCV003101106 |
|
NM_000059.4(BRCA2):c.2179T>C (p.Ser727Pro)
|
SNV Germline |
Chr13:32336534 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770351 |
rs_2137483967 |
3 SubmittersRCV002432862RCV003098690 |
|
NM_000059.4(BRCA2):c.2287C>T (p.His763Tyr)
|
SNV Germline |
Chr13:32336642 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771178 |
rs_863224585 |
2 SubmittersRCV002446177 |
|
NM_000059.4(BRCA2):c.2289T>A (p.His763Gln)
|
SNV Germline |
Chr13:32336644 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771217 |
rs_781443201 |
2 SubmittersRCV002446207 |
|
NM_000059.4(BRCA2):c.2382G>C (p.Met794Ile)
|
SNV Germline |
Chr13:32336737 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771853 |
rs_1555282646 |
2 SubmittersRCV002457914 |
|
NM_000059.4(BRCA2):c.2404A>G (p.Asn802Asp)
|
SNV Germline |
Chr13:32336759 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387771985 |
rs_2137486117 |
3 SubmittersRCV002459676RCV005098124 |
|
NM_000059.4(BRCA2):c.2633A>C (p.Asp878Ala)
|
SNV Germline |
Chr13:32336988 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773234 |
rs_765618026 |
2 SubmittersRCV002428578 |
|
NM_000059.4(BRCA2):c.1077A>T (p.Glu359Asp)
|
SNV Germline |
Chr13:32332555 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761429 |
rs_1135401832 |
2 SubmittersRCV002421864 |
|
NM_000059.4(BRCA2):c.2141A>G (p.Glu714Gly)
|
SNV Germline |
Chr13:32336496 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770131 |
rs_2137483648 |
2 SubmittersRCV002430555 |
|
NM_000059.4(BRCA2):c.2146C>T (p.Gln716Ter)
|
SNV Germline |
Chr13:32336501 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387770160 |
rs_2137483697 |
2 SubmittersRCV002430620RCV003098655 |
|
NM_000059.4(BRCA2):c.2357C>A (p.Ser786Tyr)
|
SNV Germline |
Chr13:32336712 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771686 |
rs_80358501 |
2 SubmittersRCV002448486 |
|
NM_000059.4(BRCA2):c.2362G>C (p.Gly788Arg)
|
SNV Germline |
Chr13:32336717 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771708 |
rs_1060502434 |
2 SubmittersRCV002450121 |
|
NM_000059.4(BRCA2):c.2375A>T (p.Tyr792Phe)
|
SNV Germline |
Chr13:32336730 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771799 |
rs_1566226599 |
2 SubmittersRCV002457815 |
|
NM_000059.4(BRCA2):c.2485A>T (p.Lys829Ter)
|
SNV Germline |
Chr13:32336840 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387772395 |
rs_1270048702 |
1 SubmittersRCV002430845 |
|
NM_000059.4(BRCA2):c.2494G>C (p.Glu832Gln)
|
SNV Germline |
Chr13:32336849 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772411 |
rs_786202875 |
4 SubmittersRCV002430988RCV004804479RCV003530267 |
|
NM_000059.4(BRCA2):c.2608A>G (p.Ile870Val)
|
SNV Germline |
Chr13:32336963 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940616 |
rs_546036225 |
3 SubmittersRCV002437152RCV003645326 |
|
NM_000059.4(BRCA2):c.2617A>G (p.Ile873Val)
|
SNV Germline |
Chr13:32336972 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773182 |
rs_2072461250 |
2 SubmittersRCV002426365 |
|
NM_000059.4(BRCA2):c.1934G>T (p.Arg645Ile)
|
SNV Germline |
Chr13:32336289 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387768324 |
rs_2137481950 |
4 SubmittersRCV002410970RCV003100946RCV003388117 |
|
NM_000059.4(BRCA2):c.2113G>C (p.Glu705Gln)
|
SNV Germline |
Chr13:32336468 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387769986 |
rs_2137483407 |
2 SubmittersRCV002417522 |
|
NM_000059.4(BRCA2):c.2218C>T (p.Pro740Ser)
|
SNV Germline |
Chr13:32336573 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770659 |
rs_2137484346 |
2 SubmittersRCV002425953 |
|
NM_000059.4(BRCA2):c.2221G>A (p.Val741Ile)
|
SNV Germline |
Chr13:32336576 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770676 |
rs_80358493 |
4 SubmittersRCV002428087RCV004007408RCV005098016 |
|
NM_000059.4(BRCA2):c.2226A>T (p.Gln742His)
|
SNV Germline |
Chr13:32336581 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770722 |
rs_748757085 |
2 SubmittersRCV002428138 |
|
NM_000059.4(BRCA2):c.2329G>A (p.Asp777Asn)
|
SNV Germline |
Chr13:32336684 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771511 |
rs_2072455387 |
2 SubmittersRCV002457617 |
|
NM_000059.4(BRCA2):c.2332G>C (p.Val778Leu)
|
SNV Germline |
Chr13:32336687 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771543 |
rs_587779360 |
2 SubmittersRCV002448212 |
|
NM_000059.4(BRCA2):c.2341A>G (p.Asn781Asp)
|
SNV Germline |
Chr13:32336696 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771581 |
rs_587782485 |
2 SubmittersRCV002448288 |
|
NM_000059.4(BRCA2):c.2440C>A (p.Pro814Thr)
|
SNV Germline |
Chr13:32336795 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772215 |
rs_2137486481 |
3 SubmittersRCV002460034RCV003645323 |
|
NM_000059.4(BRCA2):c.2445G>A (p.Met815Ile)
|
SNV Germline |
Chr13:32336800 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772247 |
rs_2137486537 |
3 SubmittersRCV002455391RCV003775253 |
|
NM_000059.4(BRCA2):c.2573G>A (p.Arg858Lys)
|
SNV Germline |
Chr13:32336928 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772571 |
rs_2137487821 |
2 SubmittersRCV002426022 |
|
NM_000059.4(BRCA2):c.1117C>G (p.Gln373Glu)
|
SNV Germline |
Chr13:32332595 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761642 |
rs_397507572 |
2 SubmittersRCV002435054 |
|
NM_000059.4(BRCA2):c.209C>T (p.Ser70Phe)
|
SNV Germline |
Chr13:32319218 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940330 |
rs_376931156 |
3 SubmittersRCV002424172RCV003098611 |
|
NM_000059.4(BRCA2):c.2186T>G (p.Ile729Arg)
|
SNV Germline |
Chr13:32336541 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387770406 |
rs_431825296 |
3 SubmittersRCV002425491RCV003482167 |
|
NM_000059.4(BRCA2):c.2201T>C (p.Leu734Ser)
|
SNV Germline |
Chr13:32336556 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387770504 |
rs_2548523378 |
4 SubmittersRCV002425747RCV004804473 |
|
NM_000059.4(BRCA2):c.2300G>C (p.Ser767Thr)
|
SNV Germline |
Chr13:32336655 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387771295 |
rs_2137485146 |
3 SubmittersRCV002428473RCV003491111 |
|
NM_000059.4(BRCA2):c.2434A>G (p.Asn812Asp)
|
SNV Germline |
Chr13:32336789 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772186 |
rs_2137486429 |
2 SubmittersRCV002459916 |
|
NM_000059.4(BRCA2):c.2527G>C (p.Ala843Pro)
|
SNV Germline |
Chr13:32336882 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772478 |
rs_1555282730 |
3 SubmittersRCV002433096RCV003101923 |
|
NM_000059.4(BRCA2):c.2546T>G (p.Val849Gly)
|
SNV Germline |
Chr13:32336901 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772513 |
rs_1288644511 |
2 SubmittersRCV002433266 |
|
NM_000059.4(BRCA2):c.2551T>C (p.Phe851Leu)
|
SNV Germline |
Chr13:32336906 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772524 |
rs_2137487641 |
2 SubmittersRCV002433310 |
|
NM_000059.4(BRCA2):c.2656A>G (p.Asn886Asp)
|
SNV Germline |
Chr13:32337011 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773325 |
rs_1205280922 |
2 SubmittersRCV002453099 |
|
NM_000059.4(BRCA2):c.2669T>G (p.Phe890Cys)
|
SNV Germline |
Chr13:32337024 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773379 |
rs_2548524461 |
2 SubmittersRCV002428788 |
|
NM_000059.4(BRCA2):c.2798C>A (p.Thr933Lys)
|
SNV Germline |
Chr13:32337153 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773741 |
rs_276174830 |
3 SubmittersRCV002441480RCV003645328 |
|
NM_000059.4(BRCA2):c.2747G>A (p.Cys916Tyr)
|
SNV Germline |
Chr13:32337102 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387773632 |
rs_2072463871 |
3 SubmittersRCV002439308RCV003102169 |
|
NM_000059.4(BRCA2):c.3055C>T (p.Leu1019Phe)
|
SNV Germline |
Chr13:32337410 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387775085 |
rs_55638633 |
3 SubmittersRCV002444142RCV003775452 |
|
NM_000059.4(BRCA2):c.2872A>T (p.Ser958Cys)
|
SNV Germline |
Chr13:32337227 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774034 |
rs_80358537 |
2 SubmittersRCV002437688 |
|
NM_000059.4(BRCA2):c.2876T>C (p.Val959Ala)
|
SNV Germline |
Chr13:32337231 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774053 |
rs_2548524801 |
2 SubmittersRCV002437731 |
|
NM_000059.4(BRCA2):c.2878A>C (p.Lys960Gln)
|
SNV Germline |
Chr13:32337233 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774058 |
rs_876659267 |
2 SubmittersRCV002437745 |
|
NM_000059.4(BRCA2):c.2882A>G (p.Gln961Arg)
|
SNV Germline |
Chr13:32337237 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774078 |
rs_2072467086 |
2 SubmittersRCV002437813 |
|
NM_000059.4(BRCA2):c.2884C>G (p.His962Asp)
|
SNV Germline |
Chr13:32337239 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387774088 |
rs_755777807 |
3 SubmittersRCV002437834RCV005055200 |
|
NM_000059.4(BRCA2):c.2887A>G (p.Ile963Val)
|
SNV Germline |
Chr13:32337242 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774103 |
rs_2137490936 |
2 SubmittersRCV002437857 |
|
NM_000059.4(BRCA2):c.2896A>G (p.Thr966Ala)
|
SNV Germline |
Chr13:32337251 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774151 |
rs_2137491014 |
2 SubmittersRCV002437977 |
|
NM_000059.4(BRCA2):c.3023G>T (p.Ser1008Ile)
|
SNV Germline |
Chr13:32337378 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774868 |
rs_2137492325 |
2 SubmittersRCV002435916 |
|
NM_000059.4(BRCA2):c.3940A>T (p.Lys1314Ter)
|
SNV Germline |
Chr13:32338295 |
Pathogenic |
Gastric cancer |
No Assertion Criteria Provided |
CA387778869 |
rs_2137501419 |
1 SubmittersRCV003164572 |
|
NM_000059.4(BRCA2):c.4867C>T (p.Gln1623Ter)
|
SNV Germline |
Chr13:32339222 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Gastric cancer Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387783447 |
rs_2137511115 |
3 SubmittersRCV004571167RCV003164573RCV005522694 |
|
NM_000059.4(BRCA2):c.6359C>A (p.Ser2120Ter)
|
SNV Germline |
Chr13:32340714 |
Pathogenic |
Gastric cancer |
No Assertion Criteria Provided |
CA387789144 |
rs_397507845 |
1 SubmittersRCV003164574 |
|
NM_000059.4(BRCA2):c.8005A>T (p.Arg2669Ter)
|
SNV Germline |
Chr13:32363207 |
Pathogenic |
Gastric cancer |
No Assertion Criteria Provided |
CA387748693 |
rs_2137579850 |
1 SubmittersRCV003164653 |
|
NM_000059.4(BRCA2):c.4657A>G (p.Thr1553Ala)
|
SNV Germline |
Chr13:32339012 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782736 |
rs_2137508779 |
2 SubmittersRCV002466242RCV003157200 |
|
NM_000059.4(BRCA2):c.6830T>C (p.Leu2277Pro)
|
SNV Germline |
Chr13:32341185 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791477 |
rs_1043681551 |
2 SubmittersRCV002466246RCV003157201 |
|
NM_000059.4(BRCA2):c.6235G>A (p.Val2079Met)
|
SNV Germline |
Chr13:32340590 |
Conflicting classifications of pathogenicity |
not specified Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788898 |
rs_886037812 |
2 SubmittersRCV002470077RCV003157203 |
|
NM_000059.4(BRCA2):c.3744T>A (p.Ser1248Arg)
|
SNV Germline |
Chr13:32338099 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778159 |
rs_1593900397 |
3 SubmittersRCV002481127RCV003157206RCV003530271 |
|
NM_000059.4(BRCA2):c.6460T>C (p.Tyr2154His)
|
SNV Germline |
Chr13:32340815 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387789354 |
rs_2548533379 |
4 SubmittersRCV002508536RCV003157207RCV004007477 |
|
NM_000059.4(BRCA2):c.841G>C (p.Asp281His)
|
SNV Germline |
Chr13:32332319 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387760496 |
rs_80359088 |
2 SubmittersRCV003157964RCV003051467 |
|
NM_000059.4(BRCA2):c.3371A>C (p.Gln1124Pro)
|
SNV Germline |
Chr13:32337726 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776401 |
rs_1555283204 |
2 SubmittersRCV003062572RCV003157958 |
|
NM_000059.4(BRCA2):c.3814A>T (p.Met1272Leu)
|
SNV Germline |
Chr13:32338169 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778458 |
rs_80358624 |
2 SubmittersRCV003157959RCV003062573 |
|
NM_000059.4(BRCA2):c.4256A>C (p.Lys1419Thr)
|
SNV Germline |
Chr13:32338611 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780460 |
rs_1593901833 |
3 SubmittersRCV003041185RCV003157960 |
|
NM_000059.4(BRCA2):c.3487G>A (p.Asp1163Asn)
|
SNV Germline |
Chr13:32337842 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387776888 |
rs_2137497090 |
2 SubmittersRCV003157965RCV003074292 |
|
NM_000059.4(BRCA2):c.1572G>C (p.Met524Ile)
|
SNV Germline |
Chr13:32333050 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764737 |
rs_2137472762 |
2 SubmittersRCV003072858RCV003157969 |
|
NM_000059.4(BRCA2):c.3524A>G (p.Gln1175Arg)
|
SNV Germline |
Chr13:32337879 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387777066 |
rs_2137497514 |
3 SubmittersRCV003072859RCV003157970RCV003607560 |
|
NM_000059.4(BRCA2):c.2402A>G (p.Asn801Ser)
|
SNV Germline |
Chr13:32336757 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771976 |
rs_2137486090 |
2 SubmittersRCV003083869RCV003157968 |
|
NM_000059.4(BRCA2):c.4768A>G (p.Lys1590Glu)
|
SNV Germline |
Chr13:32339123 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783156 |
rs_2137510022 |
2 SubmittersRCV002581963RCV003157973 |
|
NM_000059.4(BRCA2):c.1556G>A (p.Ser519Asn)
|
SNV Germline |
Chr13:32333034 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Nephroblastoma Familial colorectal cancer type X |
Criteria Provided Conflicting Classifications |
CA387764680 |
rs_2548520519 |
6 SubmittersRCV002620477RCV003157975RCV003477051RCV005356298 |
|
NM_000059.4(BRCA2):c.2138A>G (p.Gln713Arg)
|
SNV Germline |
Chr13:32336493 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770116 |
rs_55816687 |
2 SubmittersRCV003122060RCV003157982 |
|
NM_000059.4(BRCA2):c.3674C>G (p.Thr1225Arg)
|
SNV Germline |
Chr13:32338029 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777999 |
rs_1490822985 |
2 SubmittersRCV003109192RCV003157980 |
|
NM_000059.4(BRCA2):c.872T>C (p.Leu291Pro)
|
SNV Germline |
Chr13:32332350 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760603 |
rs_2137465433 |
2 SubmittersRCV003110384RCV003157979 |
|
NM_000059.4(BRCA2):c.5114T>C (p.Ile1705Thr)
|
SNV Germline |
Chr13:32339469 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784145 |
rs_2137514090 |
2 SubmittersRCV002587273RCV003157209 |
|
NM_000059.4(BRCA2):c.5357G>A (p.Ser1786Asn)
|
SNV Germline |
Chr13:32339712 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785077 |
rs_2137516744 |
2 SubmittersRCV002580393RCV003157208 |
|
NM_000059.4(BRCA2):c.2776A>G (p.Thr926Ala)
|
SNV Germline |
Chr13:32337131 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773695 |
rs_2548524634 |
3 SubmittersRCV002604219RCV003157212 |
|
NM_000059.4(BRCA2):c.2525T>C (p.Val842Ala)
|
SNV Germline |
Chr13:32336880 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772476 |
rs_2137487379 |
2 SubmittersRCV002630108RCV003157211 |
|
NM_000059.4(BRCA2):c.8457T>A (p.Asp2819Glu)
|
SNV Germline |
Chr13:32370527 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387752594 |
rs_876660166 |
2 SubmittersRCV002658120RCV004603215 |
|
NM_000059.4(BRCA2):c.3049A>G (p.Ile1017Val)
|
SNV Germline |
Chr13:32337404 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775031 |
rs_2072470931 |
2 SubmittersRCV002676259RCV003157217 |
|
NM_000059.4(BRCA2):c.3877A>G (p.Ile1293Val)
|
SNV Germline |
Chr13:32338232 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778730 |
rs_876659799 |
3 SubmittersRCV002676485RCV003157218 |
|
NM_000059.4(BRCA2):c.3078G>C (p.Lys1026Asn)
|
SNV Germline |
Chr13:32337433 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775200 |
rs_762692063 |
3 SubmittersRCV002695553RCV003157222 |
|
NM_000059.4(BRCA2):c.4372C>A (p.His1458Asn)
|
SNV Germline |
Chr13:32338727 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387781008 |
rs_80358672 |
4 SubmittersRCV002706512RCV003157227RCV004765554 |
|
NM_000059.4(BRCA2):c.4624G>T (p.Val1542Leu)
|
SNV Germline |
Chr13:32338979 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782071 |
rs_28897729 |
3 SubmittersRCV002686260RCV003157219 |
|
NM_000059.4(BRCA2):c.1889C>G (p.Thr630Arg)
|
SNV Germline |
Chr13:32333367 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766741 |
rs_80358479 |
2 SubmittersRCV002700930RCV003157223 |
|
NM_000059.4(BRCA2):c.6605A>T (p.Asp2202Val)
|
SNV Germline |
Chr13:32340960 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790120 |
rs_2137528989 |
2 SubmittersRCV002706312RCV003157226 |
|
NM_000059.4(BRCA2):c.6777T>A (p.Asn2259Lys)
|
SNV Germline |
Chr13:32341132 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387791248 |
rs_2072565139 |
4 SubmittersRCV002705621RCV003157220RCV003477013 |
|
NM_000059.4(BRCA2):c.4099A>C (p.Lys1367Gln)
|
SNV Germline |
Chr13:32338454 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779245 |
rs_2137502904 |
5 SubmittersRCV002690070RCV004587371RCV003477014RCV003157221 |
|
NM_000059.4(BRCA2):c.1745C>G (p.Thr582Ser)
|
SNV Germline |
Chr13:32333223 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387765470 |
rs_2137474446 |
2 SubmittersRCV002691075RCV003157224 |
|
NM_000059.4(BRCA2):c.3853G>T (p.Glu1285Ter)
|
SNV Germline |
Chr13:32338208 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387778621 |
rs_2548527062 |
1 SubmittersRCV002760189 |
|
NM_000059.4(BRCA2):c.5758G>A (p.Val1920Ile)
|
SNV Germline |
Chr13:32340113 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787054 |
rs_2548531673 |
3 SubmittersRCV002721846RCV003157230 |
|
NM_000059.4(BRCA2):c.1816C>G (p.Pro606Ala)
|
SNV Germline |
Chr13:32333294 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387766020 |
rs_765924757 |
3 SubmittersRCV002721847RCV003157231 |
|
NM_000059.4(BRCA2):c.5572A>G (p.Thr1858Ala)
|
SNV Germline |
Chr13:32339927 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940887 |
rs_779878000 |
3 SubmittersRCV002712127RCV003157232 |
|
NM_000059.4(BRCA2):c.1171T>G (p.Leu391Val)
|
SNV Germline |
Chr13:32332649 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387761951 |
rs_773412718 |
5 SubmittersRCV002746723RCV003157235RCV004007579 |
|
NM_000059.4(BRCA2):c.7647C>T (p.Cys2549=)
|
SNV Germline |
Chr13:32357771 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA483439151 |
rs_80358993 |
2 SubmittersRCV002780674RCV003477017 |
|
NM_000059.4(BRCA2):c.1114A>T (p.Asn372Tyr)
|
SNV Germline |
Chr13:32332592 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761624 |
rs_144848 |
3 SubmittersRCV002805842RCV003157240 |
|
NM_000059.4(BRCA2):c.2303C>G (p.Thr768Ser)
|
SNV Germline |
Chr13:32336658 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771342 |
rs_55824746 |
3 SubmittersRCV002756276RCV004007585RCV003157237 |
|
NM_000059.4(BRCA2):c.4070T>C (p.Leu1357Pro)
|
SNV Germline |
Chr13:32338425 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940744 |
rs_55796504 |
2 SubmittersRCV002781346RCV003157239 |
|
NM_000059.4(BRCA2):c.6377G>A (p.Cys2126Tyr)
|
SNV Germline |
Chr13:32340732 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789183 |
rs_2137526863 |
3 SubmittersRCV002819193RCV003157243 |
|
NM_000059.4(BRCA2):c.4443G>C (p.Glu1481Asp)
|
SNV Germline |
Chr13:32338798 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781345 |
rs_876659618 |
2 SubmittersRCV002824533RCV003157251 |
|
NM_000059.4(BRCA2):c.4496C>T (p.Thr1499Ile)
|
SNV Germline |
Chr13:32338851 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781569 |
rs_2137506990 |
2 SubmittersRCV002832918RCV003157257 |
|
NM_000059.4(BRCA2):c.4078G>T (p.Asp1360Tyr)
|
SNV Germline |
Chr13:32338433 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779171 |
rs_2548527587 |
3 SubmittersRCV002828079RCV003157261 |
|
NM_000059.4(BRCA2):c.5036C>T (p.Thr1679Ile)
|
SNV Germline |
Chr13:32339391 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783993 |
rs_1593904210 |
2 SubmittersRCV002810257RCV003157245 |
|
NM_000059.4(BRCA2):c.4329T>G (p.Phe1443Leu)
|
SNV Germline |
Chr13:32338684 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387780851 |
rs_2137505221 |
2 SubmittersRCV002832786RCV003157253 |
|
NM_000059.4(BRCA2):c.1052A>G (p.Lys351Arg)
|
SNV Germline |
Chr13:32332530 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761286 |
rs_1555281710 |
2 SubmittersRCV002815598RCV003157254 |
|
NM_000059.4(BRCA2):c.2777C>A (p.Thr926Asn)
|
SNV Germline |
Chr13:32337132 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773699 |
rs_1555282841 |
3 SubmittersRCV002797113RCV003157248 |
|
NM_000059.4(BRCA2):c.6812A>C (p.Lys2271Thr)
|
SNV Germline |
Chr13:32341167 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791396 |
rs_577406621 |
2 SubmittersRCV002797177RCV003157249 |
|
NM_000059.4(BRCA2):c.5509T>C (p.Phe1837Leu)
|
SNV Germline |
Chr13:32339864 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785832 |
rs_2137518146 |
2 SubmittersRCV003157250RCV002819751 |
|
NM_000059.4(BRCA2):c.1331A>G (p.Asn444Ser)
|
SNV Germline |
Chr13:32332809 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762682 |
rs_2072409915 |
2 SubmittersRCV002833109RCV003157259 |
|
NM_000059.4(BRCA2):c.5252A>G (p.Tyr1751Cys)
|
SNV Germline |
Chr13:32339607 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784706 |
rs_1341974678 |
3 SubmittersRCV002825123RCV004804513RCV003157260 |
|
NM_000059.4(BRCA2):c.5750C>T (p.Ser1917Leu)
|
SNV Germline |
Chr13:32340105 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787014 |
rs_886040609 |
2 SubmittersRCV002816250RCV003157264 |
|
NM_000059.4(BRCA2):c.1242G>T (p.Leu414Phe)
|
SNV Germline |
Chr13:32332720 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762238 |
rs_1555281791 |
2 SubmittersRCV002797050RCV003157246 |
|
NM_000059.4(BRCA2):c.2101T>C (p.Phe701Leu)
|
SNV Germline |
Chr13:32336456 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387769911 |
rs_2137483299 |
2 SubmittersRCV002810696RCV003157252 |
|
NM_000059.4(BRCA2):c.5194C>A (p.Leu1732Ile)
|
SNV Germline |
Chr13:32339549 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784580 |
rs_2137514913 |
2 SubmittersRCV002820543RCV003157258 |
|
NM_000059.4(BRCA2):c.9499G>A (p.Glu3167Lys)
|
SNV Germline |
Chr13:32394931 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761899 |
rs_2137654624 |
2 SubmittersRCV002824737RCV003308297 |
|
NM_000059.4(BRCA2):c.4084C>T (p.His1362Tyr)
|
SNV Germline |
Chr13:32338439 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387779194 |
rs_2548527602 |
3 SubmittersRCV002815909RCV003157262RCV003493970 |
|
NM_000059.4(BRCA2):c.3087G>A (p.Met1029Ile)
|
SNV Germline |
Chr13:32337442 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775246 |
rs_2137493064 |
2 SubmittersRCV002829084RCV003157276 |
|
NM_000059.4(BRCA2):c.1544C>A (p.Thr515Asn)
|
SNV Germline |
Chr13:32333022 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387764640 |
rs_786202142 |
2 SubmittersRCV002843240RCV003157282 |
|
NM_000059.4(BRCA2):c.460C>T (p.Gln154Ter)
|
SNV Germline |
Chr13:32326135 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387757153 |
rs_2137449637 |
1 SubmittersRCV002846846 |
|
NM_000059.4(BRCA2):c.2167A>C (p.Ser723Arg)
|
SNV Germline |
Chr13:32336522 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770274 |
rs_2137483874 |
2 SubmittersRCV002811964RCV003157268 |
|
NM_000059.4(BRCA2):c.5063A>G (p.Glu1688Gly)
|
SNV Germline |
Chr13:32339418 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784045 |
rs_2137513609 |
2 SubmittersRCV002837975RCV003157270 |
|
NM_000059.4(BRCA2):c.3646T>A (p.Phe1216Ile)
|
SNV Germline |
Chr13:32338001 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777943 |
rs_2137498648 |
2 SubmittersRCV002828683RCV003157274 |
|
NM_000059.4(BRCA2):c.6128A>C (p.Lys2043Thr)
|
SNV Germline |
Chr13:32340483 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788193 |
rs_2137524571 |
2 SubmittersRCV002816625RCV003157275 |
|
NM_000059.4(BRCA2):c.1927G>A (p.Val643Met)
|
SNV Germline |
Chr13:32336282 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768282 |
rs_748394046 |
2 SubmittersRCV002838908RCV003157281 |
|
NM_000059.4(BRCA2):c.2907A>C (p.Gln969His)
|
SNV Germline |
Chr13:32337262 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774181 |
rs_1555282935 |
3 SubmittersRCV002850936RCV003157277 |
|
NM_000059.4(BRCA2):c.5818G>A (p.Glu1940Lys)
|
SNV Germline |
Chr13:32340173 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787273 |
rs_1566233278 |
2 SubmittersRCV002838620RCV003157280 |
|
NM_000059.4(BRCA2):c.3328G>A (p.Glu1110Lys)
|
SNV Germline |
Chr13:32337683 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776261 |
rs_1555283173 |
3 SubmittersRCV002834685RCV003157283 |
|
NM_000059.4(BRCA2):c.6808G>A (p.Gly2270Arg)
|
SNV Germline |
Chr13:32341163 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791382 |
rs_2137530827 |
3 SubmittersRCV002834686RCV003157284 |
|
NM_000059.4(BRCA2):c.6674C>G (p.Thr2225Arg)
|
SNV Germline |
Chr13:32341029 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790538 |
rs_786203437 |
2 SubmittersRCV002839228RCV003157285 |
|
NM_000059.4(BRCA2):c.5034A>T (p.Lys1678Asn)
|
SNV Germline |
Chr13:32339389 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783989 |
rs_2137513072 |
2 SubmittersRCV002842443RCV003157273 |
|
NM_000059.4(BRCA2):c.3766C>T (p.His1256Tyr)
|
SNV Germline |
Chr13:32338121 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387778240 |
rs_2137499777 |
3 SubmittersRCV002843867RCV003157288RCV005362894 |
|
NM_000059.4(BRCA2):c.1004A>T (p.Glu335Val)
|
SNV Germline |
Chr13:32332482 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761069 |
rs_1566222581 |
2 SubmittersRCV002926697RCV003157298 |
|
NM_000059.4(BRCA2):c.1288G>C (p.Asp430His)
|
SNV Germline |
Chr13:32332766 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762461 |
rs_2137469625 |
2 SubmittersRCV002900287RCV003157297 |
|
NM_000059.4(BRCA2):c.3394A>T (p.Lys1132Ter)
|
SNV Germline |
Chr13:32337749 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387776459 |
rs_2137496133 |
2 SubmittersRCV002885236RCV004065020 |
|
NM_000059.4(BRCA2):c.5524C>G (p.Pro1842Ala)
|
SNV Germline |
Chr13:32339879 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387785890 |
rs_2072531201 |
3 SubmittersRCV002895087RCV003157292RCV004007659 |
|
NM_000059.4(BRCA2):c.2264C>A (p.Ser755Tyr)
|
SNV Germline |
Chr13:32336619 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771032 |
rs_876659060 |
3 SubmittersRCV002912465RCV003157293 |
|
NM_000059.4(BRCA2):c.5524C>T (p.Pro1842Ser)
|
SNV Germline |
Chr13:32339879 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387785892 |
rs_2072531201 |
5 SubmittersRCV003157294RCV002903345RCV005362908 |
|
NM_000059.4(BRCA2):c.2054A>G (p.Asp685Gly)
|
SNV Germline |
Chr13:32336409 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768986 |
rs_1555282420 |
2 SubmittersRCV002903352RCV003157295 |
|
NM_000059.4(BRCA2):c.6594A>C (p.Glu2198Asp)
|
SNV Germline |
Chr13:32340949 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790045 |
rs_2137528895 |
2 SubmittersRCV002913240RCV003157296 |
|
NM_000059.4(BRCA2):c.2688T>G (p.Asn896Lys)
|
SNV Germline |
Chr13:32337043 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773448 |
rs_769652613 |
2 SubmittersRCV002922668RCV003157301 |
|
NM_000059.4(BRCA2):c.8170G>A (p.Gly2724Arg)
|
SNV Germline |
Chr13:32363372 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387749597 |
rs_1057521184 |
1 SubmittersRCV002952374 |
|
NM_000059.4(BRCA2):c.517-14T>G
|
SNV Germline |
Chr13:32326485 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA609453824 |
rs_1215926483 |
2 SubmittersRCV002918631RCV003585316 |
|
NM_000059.4(BRCA2):c.5956G>A (p.Val1986Ile)
|
SNV Germline |
Chr13:32340311 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787599 |
rs_2137522671 |
2 SubmittersRCV002937209RCV003157299 |
|
NM_000059.4(BRCA2):c.8570C>T (p.Ala2857Val)
|
SNV Germline |
Chr13:32371038 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6941260 |
rs_748143090 |
2 SubmittersRCV002914013RCV004603250 |
|
NM_000059.4(BRCA2):c.6361G>T (p.Glu2121Ter)
|
SNV Germline |
Chr13:32340716 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387789147 |
rs_587782183 |
1 SubmittersRCV002923299 |
|
NM_000059.4(BRCA2):c.4666A>G (p.Ile1556Val)
|
SNV Germline |
Chr13:32339021 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387782767 |
rs_2137508843 |
2 SubmittersRCV002952772RCV003157304 |
|
NM_000059.4(BRCA2):c.2288A>G (p.His763Arg)
|
SNV Germline |
Chr13:32336643 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387771203 |
rs_2137485057 |
3 SubmittersRCV002942908RCV003157835 |
|
NM_000059.4(BRCA2):c.6299A>G (p.Gln2100Arg)
|
SNV Germline |
Chr13:32340654 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940942 |
rs_770539957 |
3 SubmittersRCV002962461RCV003157843RCV005601970 |
|
NM_000059.4(BRCA2):c.5486T>A (p.Leu1829Ter)
|
SNV Germline |
Chr13:32339841 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387785743 |
rs_2072530512 |
1 SubmittersRCV002962515 |
|
NM_000059.4(BRCA2):c.4142A>G (p.Lys1381Arg)
|
SNV Germline |
Chr13:32338497 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779422 |
rs_2072497365 |
2 SubmittersRCV002963217RCV003157845 |
|
NM_000059.4(BRCA2):c.1358C>T (p.Pro453Leu)
|
SNV Germline |
Chr13:32332836 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762822 |
rs_754587041 |
2 SubmittersRCV003009587RCV003157854 |
|
NM_000059.4(BRCA2):c.4186C>T (p.Gln1396Ter)
|
SNV Germline |
Chr13:32338541 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387780145 |
rs_776286311 |
1 SubmittersRCV003017796 |
|
NM_000059.4(BRCA2):c.2650T>C (p.Ser884Pro)
|
SNV Germline |
Chr13:32337005 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773298 |
rs_1555282771 |
2 SubmittersRCV003009569RCV003157853 |
|
NM_000059.4(BRCA2):c.3125T>G (p.Leu1042Ter)
|
SNV Germline |
Chr13:32337480 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387775713 |
rs_1593898642 |
3 SubmittersRCV002988609RCV005248897 |
|
NM_000059.4(BRCA2):c.6110A>G (p.Glu2037Gly)
|
SNV Germline |
Chr13:32340465 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788125 |
rs_2137524392 |
2 SubmittersRCV002995539RCV003157847 |
|
NM_000059.4(BRCA2):c.6746C>G (p.Ala2249Gly)
|
SNV Germline |
Chr13:32341101 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791125 |
rs_2072564276 |
2 SubmittersRCV003011397RCV003157850 |
|
NM_000059.4(BRCA2):c.3222T>A (p.Ser1074Arg)
|
SNV Germline |
Chr13:32337577 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775904 |
rs_1555283109 |
2 SubmittersRCV002996060RCV003157851 |
|
NM_000059.4(BRCA2):c.5436A>C (p.Glu1812Asp)
|
SNV Germline |
Chr13:32339791 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6940870 |
rs_754090538 |
2 SubmittersRCV003011488RCV003157852 |
|
NM_000059.4(BRCA2):c.1252T>G (p.Ser418Ala)
|
SNV Germline |
Chr13:32332730 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762284 |
rs_2072407631 |
2 SubmittersRCV002994797RCV003157849 |
|
NM_000059.4(BRCA2):c.823A>G (p.Lys275Glu)
|
SNV Germline |
Chr13:32332301 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760432 |
rs_2137465051 |
2 SubmittersRCV003005555RCV003157860 |
|
NM_000059.4(BRCA2):c.370A>G (p.Met124Val)
|
SNV Germline |
Chr13:32325129 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387756631 |
rs_397507314 |
2 SubmittersRCV003005570RCV004948881 |
|
NM_000059.4(BRCA2):c.1519A>T (p.Arg507Ter)
|
SNV Germline |
Chr13:32332997 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387764551 |
rs_2137472312 |
1 SubmittersRCV002996619 |
|
NM_000059.4(BRCA2):c.3316A>G (p.Ser1106Gly)
|
SNV Germline |
Chr13:32337671 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776219 |
rs_2137495384 |
2 SubmittersRCV003008325RCV003157864 |
|
NM_000059.4(BRCA2):c.2647T>C (p.Phe883Leu)
|
SNV Germline |
Chr13:32337002 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773284 |
rs_2548524401 |
2 SubmittersRCV003018258RCV003157857 |
|
NM_000059.4(BRCA2):c.5032A>G (p.Lys1678Glu)
|
SNV Germline |
Chr13:32339387 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387783984 |
rs_2137513035 |
3 SubmittersRCV003003088RCV003157859RCV004007761 |
|
NM_000059.4(BRCA2):c.2279T>C (p.Leu760Ser)
|
SNV Germline |
Chr13:32336634 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940592 |
rs_757410810 |
3 SubmittersRCV003157865RCV003021223 |
|
NM_000059.4(BRCA2):c.4811T>C (p.Leu1604Pro)
|
SNV Germline |
Chr13:32339166 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783281 |
rs_2137510510 |
2 SubmittersRCV003018996RCV003157867 |
|
NM_000059.4(BRCA2):c.6248T>C (p.Phe2083Ser)
|
SNV Germline |
Chr13:32340603 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA6940939 |
rs_774522471 |
4 SubmittersRCV003002900RCV003157856RCV004007759 |
|
NM_000059.4(BRCA2):c.3115C>T (p.Pro1039Ser)
|
SNV Germline |
Chr13:32337470 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387775458 |
rs_2137493358 |
2 SubmittersRCV003031114RCV003157870 |
|
NM_000059.4(BRCA2):c.92G>C (p.Trp31Ser)
|
SNV Germline |
Chr13:32319101 |
Likely pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387754108 |
rs_397508045 |
2 SubmittersRCV003138442RCV003031127 |
|
NM_000059.4(BRCA2):c.5443A>G (p.Thr1815Ala)
|
SNV Germline |
Chr13:32339798 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785550 |
rs_2072529538 |
3 SubmittersRCV003157872RCV003014404 |
|
NM_000059.4(BRCA2):c.4103T>C (p.Leu1368Ser)
|
SNV Germline |
Chr13:32338458 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779266 |
rs_2137502944 |
2 SubmittersRCV003015742RCV003157862 |
|
NM_000059.4(BRCA2):c.4561C>A (p.Leu1521Ile)
|
SNV Germline |
Chr13:32338916 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781825 |
rs_370723514 |
2 SubmittersRCV003016399RCV003157866 |
|
NM_000059.4(BRCA2):c.5460C>A (p.Cys1820Ter)
|
SNV Germline |
Chr13:32339815 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387785636 |
rs_758869410 |
1 SubmittersRCV003030848 |
|
NM_000059.4(BRCA2):c.6122C>T (p.Ser2041Phe)
|
SNV Germline |
Chr13:32340477 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788173 |
rs_2137524491 |
2 SubmittersRCV003030855RCV003157869 |
|
NM_000059.4(BRCA2):c.5918A>T (p.Asn1973Ile)
|
SNV Germline |
Chr13:32340273 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787528 |
rs_2137522283 |
2 SubmittersRCV003019860RCV003157875 |
|
NM_000059.4(BRCA2):c.1384G>C (p.Glu462Gln)
|
SNV Germline |
Chr13:32332862 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387763026 |
rs_1593892698 |
2 SubmittersRCV003041843RCV003157877 |
|
NM_000059.4(BRCA2):c.5473G>A (p.Ala1825Thr)
|
SNV Germline |
Chr13:32339828 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387785688 |
rs_745522949 |
3 SubmittersRCV003014850RCV003157878 |
|
NM_000059.4(BRCA2):c.1379A>T (p.Asn460Ile)
|
SNV Germline |
Chr13:32332857 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762970 |
rs_777093572 |
3 SubmittersRCV003015176RCV005254669RCV003157881 |
|
NM_000059.4(BRCA2):c.2237T>C (p.Val746Ala)
|
SNV Germline |
Chr13:32336592 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387770806 |
rs_2548523459 |
2 SubmittersRCV003029473RCV003157883 |
|
NM_000059.4(BRCA2):c.4554A>C (p.Glu1518Asp)
|
SNV Germline |
Chr13:32338909 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781806 |
rs_200185407 |
2 SubmittersRCV003017649RCV003157884 |
|
NM_000059.4(BRCA2):c.1591A>T (p.Lys531Ter)
|
SNV Germline |
Chr13:32333069 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387764799 |
rs_876659050 |
1 SubmittersRCV003017650 |
|
NM_000059.4(BRCA2):c.5799C>G (p.Asn1933Lys)
|
SNV Germline |
Chr13:32340154 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787207 |
rs_2137521087 |
2 SubmittersRCV003034228RCV003157887 |
|
NM_000059.4(BRCA2):c.4729G>A (p.Glu1577Lys)
|
SNV Germline |
Chr13:32339084 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783003 |
rs_878853586 |
2 SubmittersRCV003042266RCV003157892 |
|
NM_000059.4(BRCA2):c.6067G>A (p.Asp2023Asn)
|
SNV Germline |
Chr13:32340422 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787949 |
rs_1478738690 |
2 SubmittersRCV003024028RCV003157897 |
|
NM_000059.4(BRCA2):c.5607T>A (p.Ser1869Arg)
|
SNV Germline |
Chr13:32339962 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786075 |
rs_2137519078 |
2 SubmittersRCV003034338RCV003157898 |
|
NM_000059.4(BRCA2):c.4940C>G (p.Thr1647Arg)
|
SNV Germline |
Chr13:32339295 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783709 |
rs_1593903891 |
2 SubmittersRCV003157899RCV003034357 |
|
NM_000059.4(BRCA2):c.2920G>C (p.Asp974His)
|
SNV Germline |
Chr13:32337275 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774207 |
rs_539613324 |
2 SubmittersRCV003032652RCV003157905 |
|
NM_000059.4(BRCA2):c.6350G>A (p.Cys2117Tyr)
|
SNV Germline |
Chr13:32340705 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789124 |
rs_2072553110 |
2 SubmittersRCV003046484RCV003157906 |
|
NM_000059.4(BRCA2):c.4916T>C (p.Val1639Ala)
|
SNV Germline |
Chr13:32339271 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783607 |
rs_2137511622 |
2 SubmittersRCV003027191RCV003157902 |
|
NM_000059.4(BRCA2):c.2680G>T (p.Val894Leu)
|
SNV Germline |
Chr13:32337035 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773421 |
rs_28897715 |
2 SubmittersRCV003042012RCV003157880 |
|
NM_000059.4(BRCA2):c.4092A>G (p.Ile1364Met)
|
SNV Germline |
Chr13:32338447 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779225 |
rs_2137502823 |
2 SubmittersRCV003029227RCV003157882 |
|
NM_000059.4(BRCA2):c.2597A>G (p.Glu866Gly)
|
SNV Germline |
Chr13:32336952 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387772623 |
rs_1555282752 |
3 SubmittersRCV003020009RCV003157891RCV004798019 |
|
NM_000059.4(BRCA2):c.4573C>T (p.His1525Tyr)
|
SNV Germline |
Chr13:32338928 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781874 |
rs_2137507836 |
2 SubmittersRCV003026985RCV003157900 |
|
NM_000059.4(BRCA2):c.4496C>G (p.Thr1499Ser)
|
SNV Germline |
Chr13:32338851 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781568 |
rs_2137506990 |
3 SubmittersRCV003030108RCV003157904 |
|
NM_000059.4(BRCA2):c.6440A>G (p.His2147Arg)
|
SNV Germline |
Chr13:32340795 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387789311 |
rs_2072555628 |
7 SubmittersRCV003017061RCV005406560RCV005429402RCV003157874RCV004804535RCV005356243 |
|
NM_000059.4(BRCA2):c.3992C>G (p.Ser1331Cys)
|
SNV Germline |
Chr13:32338347 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778977 |
rs_2137501864 |
2 SubmittersRCV003038107RCV003157888 |
|
NM_000059.4(BRCA2):c.5698T>C (p.Ser1900Pro)
|
SNV Germline |
Chr13:32340053 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387786709 |
rs_2137520013 |
2 SubmittersRCV003020302RCV003157893 |
|
NM_000059.4(BRCA2):c.4247A>G (p.Gln1416Arg)
|
SNV Germline |
Chr13:32338602 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition |
Criteria Provided Conflicting Classifications |
CA387780419 |
rs_2072499770 |
3 SubmittersRCV003025199RCV003157916RCV004804541 |
|
NM_000059.4(BRCA2):c.4031A>G (p.Asn1344Ser)
|
SNV Germline |
Chr13:32338386 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Familial prostate cancer |
Criteria Provided Conflicting Classifications |
CA387779066 |
rs_1593901214 |
5 SubmittersRCV003157919RCV003151436RCV003046823RCV005356246 |
|
NM_000059.4(BRCA2):c.2297C>T (p.Ala766Val)
|
SNV Germline |
Chr13:32336652 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387771274 |
rs_2072454625 |
2 SubmittersRCV003157921RCV003035702 |
|
NM_000059.4(BRCA2):c.206C>T (p.Pro69Leu)
|
SNV Germline |
Chr13:32319215 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387754417 |
rs_2138704833 |
2 SubmittersRCV005308900RCV003057824 |
|
NM_000059.4(BRCA2):c.1313A>G (p.Asp438Gly)
|
SNV Germline |
Chr13:32332791 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387762623 |
rs_2137470041 |
3 SubmittersRCV003477038RCV003040288RCV003157935 |
|
NM_000059.4(BRCA2):c.3662C>G (p.Ser1221Cys)
|
SNV Germline |
Chr13:32338017 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387777977 |
rs_397507313 |
2 SubmittersRCV003030411RCV003157909 |
|
NM_000059.4(BRCA2):c.2816C>T (p.Thr939Ile)
|
SNV Germline |
Chr13:32337171 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773778 |
rs_1555282879 |
2 SubmittersRCV003039536RCV003157911 |
|
NM_000059.4(BRCA2):c.5846A>C (p.Asp1949Ala)
|
SNV Germline |
Chr13:32340201 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787376 |
rs_431825336 |
2 SubmittersRCV003024944RCV003157914 |
|
NM_000059.4(BRCA2):c.5235G>A (p.Met1745Ile)
|
SNV Germline |
Chr13:32339590 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784668 |
rs_2137515425 |
3 SubmittersRCV003059276RCV003157915 |
|
NM_000059.4(BRCA2):c.8660C>A (p.Ser2887Ter)
|
SNV Germline |
Chr13:32376697 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
CA387754716 |
rs_2072874696 |
2 SubmittersRCV003043348RCV004719285 |
|
NM_000059.4(BRCA2):c.5420A>T (p.Asp1807Val)
|
SNV Germline |
Chr13:32339775 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785419 |
rs_2137517375 |
2 SubmittersRCV003157924RCV003049462 |
|
NM_000059.4(BRCA2):c.6608T>A (p.Val2203Asp)
|
SNV Germline |
Chr13:32340963 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387790139 |
rs_2137529004 |
3 SubmittersRCV003157925RCV003040056 |
|
NM_000059.4(BRCA2):c.3982A>G (p.Ser1328Gly)
|
SNV Germline |
Chr13:32338337 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778957 |
rs_1566229480 |
2 SubmittersRCV003040065RCV003157926 |
|
NM_000059.4(BRCA2):c.2537C>T (p.Ser846Leu)
|
SNV Germline |
Chr13:32336892 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387772498 |
rs_80358518 |
2 SubmittersRCV003157927RCV003049538 |
|
NM_000059.4(BRCA2):c.1744A>T (p.Thr582Ser)
|
SNV Germline |
Chr13:32333222 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387765460 |
rs_80358457 |
2 SubmittersRCV003157928RCV003049540 |
|
NM_000059.4(BRCA2):c.964A>G (p.Lys322Glu)
|
SNV Germline |
Chr13:32332442 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760894 |
rs_11571640 |
2 SubmittersRCV003027863RCV003157907 |
|
NM_000059.4(BRCA2):c.6658G>A (p.Glu2220Lys)
|
SNV Germline |
Chr13:32341013 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387790434 |
rs_2137529502 |
2 SubmittersRCV003054782RCV003157913 |
|
NM_000059.4(BRCA2):c.3847G>C (p.Val1283Leu)
|
SNV Germline |
Chr13:32338202 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387778599 |
rs_754974533 |
2 SubmittersRCV003157918RCV003049072 |
|
NM_000059.4(BRCA2):c.7401T>G (p.Ala2467=)
|
SNV Germline |
Chr13:32355254 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483439524 |
rs_2137558789 |
2 SubmittersRCV004948929RCV003051602 |
|
NM_000059.4(BRCA2):c.6241G>C (p.Glu2081Gln)
|
SNV Germline |
Chr13:32340596 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788908 |
rs_2137525578 |
2 SubmittersRCV003054557RCV003157912 |
|
NM_000059.4(BRCA2):c.6312A>C (p.Lys2104Asn)
|
SNV Germline |
Chr13:32340667 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789049 |
rs_2548533023 |
2 SubmittersRCV003157923RCV003039663 |
|
NM_000059.4(BRCA2):c.6438T>A (p.Asn2146Lys)
|
SNV Germline |
Chr13:32340793 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789307 |
rs_1555284698 |
2 SubmittersRCV003157930RCV003043975 |
|
NM_000059.4(BRCA2):c.632-5T>C
|
SNV Germline |
Chr13:32329438 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA2580087047 |
rs_2548516947 |
2 SubmittersRCV004948927RCV003051526 |
|
NM_000059.4(BRCA2):c.1118A>G (p.Gln373Arg)
|
SNV Germline |
Chr13:32332596 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761651 |
rs_2137467818 |
2 SubmittersRCV003044887RCV003157953 |
|
NM_000059.4(BRCA2):c.5815T>A (p.Leu1939Met)
|
SNV Germline |
Chr13:32340170 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387787262 |
rs_1171546018 |
2 SubmittersRCV003065855RCV003157954 |
|
NM_000059.4(BRCA2):c.6373A>T (p.Thr2125Ser)
|
SNV Germline |
Chr13:32340728 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387789178 |
rs_2137526815 |
3 SubmittersRCV003048784RCV003157957 |
|
NM_000059.4(BRCA2):c.6244G>A (p.Glu2082Lys)
|
SNV Germline |
Chr13:32340599 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788915 |
rs_886040642 |
2 SubmittersRCV003052566RCV003157947 |
|
NM_000059.4(BRCA2):c.2627A>T (p.Asn876Ile)
|
SNV Germline |
Chr13:32336982 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773218 |
rs_997313713 |
2 SubmittersRCV003036501RCV003157948 |
|
NM_000059.4(BRCA2):c.8331+1G>C
|
SNV Germline |
Chr13:32363534 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387750311 |
rs_81002837 |
1 SubmittersRCV003041047 |
|
NM_000059.4(BRCA2):c.4384T>A (p.Leu1462Ile)
|
SNV Germline |
Chr13:32338739 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387781062 |
rs_1593902198 |
2 SubmittersRCV003157937RCV003050214 |
|
NM_000059.4(BRCA2):c.7868A>C (p.His2623Pro)
|
SNV Germline |
Chr13:32362585 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387747086 |
rs_80359012 |
1 SubmittersRCV003044395 |
|
NM_000059.4(BRCA2):c.3837T>G (p.Asn1279Lys)
|
SNV Germline |
Chr13:32338192 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387778561 |
rs_1555283421 |
2 SubmittersRCV003050356RCV003157938 |
|
NM_000059.4(BRCA2):c.1130A>C (p.Glu377Ala)
|
SNV Germline |
Chr13:32332608 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387761723 |
rs_2137467921 |
2 SubmittersRCV003052481RCV003157942 |
|
NM_000059.4(BRCA2):c.3440A>T (p.Asn1147Ile)
|
SNV Germline |
Chr13:32337795 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387776620 |
rs_1799951 |
2 SubmittersRCV003052500RCV003157944 |
|
NM_000059.4(BRCA2):c.983C>G (p.Thr328Ser)
|
SNV Germline |
Chr13:32332461 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760965 |
rs_2137466544 |
2 SubmittersRCV003040877RCV003157951 |
|
NM_000059.4(BRCA2):c.6820G>C (p.Gly2274Arg)
|
SNV Germline |
Chr13:32341175 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387791433 |
rs_2137530916 |
2 SubmittersRCV003040812RCV003157950 |
|
NM_000059.4(BRCA2):c.2078G>T (p.Cys693Phe)
|
SNV Germline |
Chr13:32336433 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387769103 |
rs_771226774 |
2 SubmittersRCV003045056RCV003157955 |
|
NM_000059.4(BRCA2):c.6193C>A (p.Gln2065Lys)
|
SNV Germline |
Chr13:32340548 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788819 |
rs_2137525105 |
2 SubmittersRCV003110031RCV003157978 |
|
NM_000059.4(BRCA2):c.941A>T (p.Lys314Ile)
|
SNV Germline |
Chr13:32332419 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760812 |
rs_2137466066 |
2 SubmittersRCV003120291RCV003157983 |
|
NM_000059.4(BRCA2):c.7171G>T (p.Glu2391Ter)
|
SNV Germline |
Chr13:32355024 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387739504 |
rs_2137556567 |
1 SubmittersRCV003123490 |
|
NM_000059.4(BRCA2):c.2158G>T (p.Asp720Tyr)
|
SNV Germline |
Chr13:32336513 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387770232 |
rs_2137483803 |
3 SubmittersRCV003126987RCV003157985RCV004009588 |
|
NM_000059.4(BRCA2):c.8633-1G>T
|
SNV Unknown |
Chr13:32376669 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387754596 |
rs_398122711 |
1 SubmittersRCV003140359 |
|
NM_000059.4(BRCA2):c.3715A>T (p.Lys1239Ter)
|
SNV Unknown |
Chr13:32338070 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387778075 |
rs_374191973 |
1 SubmittersRCV003140362 |
|
NM_000059.4(BRCA2):c.9519C>A (p.Cys3173Ter)
|
SNV Unknown |
Chr13:32396915 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387762962 |
rs_2137658819 |
1 SubmittersRCV003140369 |
|
NM_000059.4(BRCA2):c.7663A>T (p.Lys2555Ter)
|
SNV Unknown |
Chr13:32357787 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387745005 |
rs_1566242721 |
2 SubmittersRCV003140380RCV004572854 |
|
NM_000059.4(BRCA2):c.875A>T (p.Glu292Val)
|
SNV Germline |
Chr13:32332353 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA387760611 |
rs_1593891360 |
2 SubmittersRCV003157988RCV003142399 |
|
NM_000059.4(BRCA2):c.4135C>G (p.Gln1379Glu)
|
SNV Germline |
Chr13:32338490 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387779390 |
rs_2072497088 |
2 SubmittersRCV003142454RCV003157989 |
|
NM_000059.4(BRCA2):c.2024C>T (p.Thr675Ile)
|
SNV Germline |
Chr13:32336379 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387768846 |
rs_80358484 |
3 SubmittersRCV003143812RCV003157991 |
|
NM_000059.4(BRCA2):c.6083A>T (p.Glu2028Val)
|
SNV Germline |
Chr13:32340438 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387788022 |
rs_1555284531 |
2 SubmittersRCV003143813RCV003157992 |
|
NM_000059.4(BRCA2):c.9545A>C (p.His3182Pro)
|
SNV Germline |
Chr13:32396941 |
Conflicting classifications of pathogenicity |
Ovarian cancer Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387763163 |
rs_1566260129 |
3 SubmittersRCV003154730RCV003530281RCV004246185 |
|
NM_000059.4(BRCA2):c.6663C>G (p.Asn2221Lys)
|
SNV Germline |
Chr13:32341018 |
Likely pathogenic |
Ovarian cancer |
Criteria Provided Single Submitter |
CA387790463 |
rs_2137529570 |
1 SubmittersRCV003154793 |
|
NM_000059.4(BRCA2):c.8132C>T (p.Ala2711Val)
|
SNV Germline |
Chr13:32363334 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387749447 |
rs_2137581002 |
2 SubmittersRCV003182505RCV005240720 |
|
NM_000059.4(BRCA2):c.9253A>G (p.Thr3085Ala)
|
SNV Germline |
Chr13:32380142 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Familial cancer of breast |
Criteria Provided Conflicting Classifications |
CA387758719 |
rs_397507423 |
2 SubmittersRCV003187200RCV004572870 |
|
NM_000059.4(BRCA2):c.2353A>C (p.Ile785Leu)
|
SNV Germline |
Chr13:32336708 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387771660 |
rs_747748537 |
2 SubmittersRCV003187203RCV004763613 |
|
NM_000059.4(BRCA2):c.8822A>C (p.Gln2941Pro)
|
SNV Germline |
Chr13:32379384 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387756126 |
rs_779091957 |
2 SubmittersRCV003187248RCV003779519 |
|
NM_000059.4(BRCA2):c.7855T>G (p.Trp2619Gly)
|
SNV Germline |
Chr13:32362572 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387747057 |
rs_1593923998 |
1 SubmittersRCV003300652 |
|
NM_000059.4(BRCA2):c.8627A>G (p.His2876Arg)
|
SNV Germline |
Chr13:32371095 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387753007 |
rs_1060502470 |
2 SubmittersRCV003530292RCV003300661 |
|
NM_000059.4(BRCA2):c.7878G>T (p.Trp2626Cys)
|
SNV Germline |
Chr13:32362595 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387747104 |
rs_80359013 |
1 SubmittersRCV003300675 |
|
NM_000059.4(BRCA2):c.6137C>G (p.Ser2046Ter)
|
SNV Germline |
Chr13:32340492 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387788234 |
rs_2072547315 |
1 SubmittersRCV003293399 |
|
NM_000059.4(BRCA2):c.6591T>G (p.Thr2197=)
|
SNV Germline |
Chr13:32340946 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483439254 |
rs_2548533669 |
3 SubmittersRCV003293405RCV003477076RCV003645346 |
|
NM_000059.4(BRCA2):c.9256+2T>A
|
SNV Germline |
Chr13:32380147 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387758744 |
rs_1555288591 |
1 SubmittersRCV003293426 |
|
NM_000059.4(BRCA2):c.8650T>C (p.Tyr2884His)
|
SNV Germline |
Chr13:32376687 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754676 |
rs_2137612442 |
2 SubmittersRCV003302179 |
|
NM_000059.4(BRCA2):c.1848T>A (p.Cys616Ter)
|
SNV Unknown |
Chr13:32333326 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387766357 |
rs_2137475605 |
1 SubmittersRCV003316928 |
|
NM_000059.4(BRCA2):c.6841G>T (p.Gly2281Ter)
|
SNV Germline |
Chr13:32341196 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
No Assertion Criteria Provided |
CA387791519 |
rs_1390926046 |
1 SubmittersRCV003485913 |
|
NM_000059.4(BRCA2):c.7870T>G (p.Tyr2624Asp)
|
SNV Germline |
Chr13:32362587 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387747091 |
rs_1161235543 |
2 SubmittersRCV003325925 |
|
NM_000059.4(BRCA2):c.6658G>T (p.Glu2220Ter)
|
SNV Unknown |
Chr13:32341013 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
CA387790436 |
rs_2137529502 |
2 SubmittersRCV003330199RCV003475562 |
|
NM_000059.4(BRCA2):c.8755-3C>T
|
SNV Somatic |
Chr13:32379314 |
Pathogenic |
Malignant tumor of urinary bladder |
No Assertion Criteria Provided |
CA2582341821 |
rs_2072896768 |
1 SubmittersRCV003332950 |
|
NM_000059.4(BRCA2):c.7384T>C (p.Ser2462Pro)
|
SNV Germline |
Chr13:32355237 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387741731 |
rs_1593918545 |
4 SubmittersRCV003333861RCV004334121RCV004804599RCV005103960 |
|
NM_000059.4(BRCA2):c.2050C>T (p.Gln684Ter)
|
SNV Germline |
Chr13:32336405 |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387768967 |
rs_2072449598 |
2 SubmittersRCV003340830RCV003645355 |
|
NM_000059.4(BRCA2):c.8623G>A (p.Glu2875Lys)
|
SNV Germline |
Chr13:32371091 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387752980 |
rs_2137601108 |
3 SubmittersRCV003345092RCV003645361 |
|
NM_000059.4(BRCA2):c.4983T>A (p.Tyr1661Ter)
|
SNV Germline |
Chr13:32339338 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387783868 |
rs_1060499833 |
1 SubmittersRCV003341747 |
|
NM_000059.4(BRCA2):c.10048C>T (p.Gln3350Ter)
|
SNV Germline |
Chr13:32398561 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome BRCA2-related disorder |
Criteria Provided Conflicting Classifications |
CA387767828 |
rs_2137666093 |
2 SubmittersRCV003530315RCV004534412 |
|
NM_000059.4(BRCA2):c.4688G>A (p.Trp1563Ter)
|
SNV Unknown |
Chr13:32339043 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA387782849 |
rs_864622546 |
1 SubmittersRCV003460273 |
|
NM_000059.4(BRCA2):c.9502-1G>C
|
SNV Unknown |
Chr13:32396897 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA387762819 |
rs_1566260055 |
1 SubmittersRCV003474430 |
|
NM_000059.4(BRCA2):c.1910-2A>C
|
SNV Unknown |
Chr13:32336263 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA387768190 |
rs_1228762581 |
1 SubmittersRCV003474433 |
|
NM_000059.4(BRCA2):c.7439T>A (p.Leu2480Ter)
|
SNV Germline |
Chr13:32356431 |
Pathogenic/Likely pathogenic |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387742964 |
rs_2137561690 |
2 SubmittersRCV003474438RCV005310988 |
|
NM_000059.4(BRCA2):c.1045A>T (p.Lys349Ter)
|
SNV Unknown |
Chr13:32332523 |
Likely pathogenic |
Familial cancer of breast |
Criteria Provided Single Submitter |
CA387761252 |
rs_2072403180 |
1 SubmittersRCV003474441 |
|
NM_000059.4(BRCA2):c.483T>A (p.Cys161Ter)
|
SNV Unknown |
Chr13:32326249 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387757630 |
rs_397507745 |
1 SubmittersRCV003452670 |
|
NM_000059.4(BRCA2):c.7492A>T (p.Lys2498Ter)
|
SNV Unknown |
Chr13:32356484 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387743363 |
rs_2548541409 |
1 SubmittersRCV003452674 |
|
NM_000059.4(BRCA2):c.1059A>T (p.Ser353=)
|
SNV Germline |
Chr13:32332537 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6940486 |
rs_730881585 |
2 SubmittersRCV003477110RCV005100272 |
|
NM_000059.4(BRCA2):c.1374A>T (p.Pro458=)
|
SNV Germline |
Chr13:32332852 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA483436781 |
rs_1555281873 |
2 SubmittersRCV003477111RCV005100273 |
|
NM_000059.4(BRCA2):c.3198T>C (p.Asn1066=)
|
SNV Germline |
Chr13:32337553 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483437500 |
rs_2072474776 |
2 SubmittersRCV003477115RCV004364813 |
|
NM_000059.4(BRCA2):c.4519C>T (p.Gln1507Ter)
|
SNV Germline |
Chr13:32338874 |
Pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387781652 |
rs_1386446278 |
3 SubmittersRCV003477120RCV003645371 |
|
NM_000059.4(BRCA2):c.7038T>C (p.Asn2346=)
|
SNV Germline |
Chr13:32354891 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483439333 |
rs_2137555368 |
2 SubmittersRCV003477128RCV005310990 |
|
NM_000059.4(BRCA2):c.7288G>T (p.Glu2430Ter)
|
SNV Germline |
Chr13:32355141 |
Pathogenic |
Malignant tumor of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387740786 |
rs_2137557666 |
2 SubmittersRCV003493289RCV004614444 |
|
NM_000059.4(BRCA2):c.9649-6T>A
|
SNV Germline |
Chr13:32398156 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA2697551702 |
rs_2073048863 |
2 SubmittersRCV003494126RCV003645375 |
|
NM_000059.4(BRCA2):c.4792C>G (p.Leu1598Val)
|
SNV Germline |
Chr13:32339147 |
Conflicting classifications of pathogenicity |
not specified Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387783239 |
rs_2137510258 |
2 SubmittersRCV003494253RCV005100347 |
|
NM_000059.4(BRCA2):c.4171G>T (p.Glu1391Ter)
|
SNV Germline |
Chr13:32338526 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
No Assertion Criteria Provided |
CA387780083 |
rs_1593901620 |
1 SubmittersRCV003494432 |
|
NM_000059.4(BRCA2):c.5400C>A (p.Tyr1800Ter)
|
SNV Germline |
Chr13:32339755 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387785315 |
rs_780919805 |
2 SubmittersRCV003494434 |
|
NM_000059.4(BRCA2):c.7133C>A (p.Ser2378Ter)
|
SNV Germline |
Chr13:32354986 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
No Assertion Criteria Provided |
CA387738866 |
rs_276174889 |
1 SubmittersRCV003494441 |
|
NM_000059.4(BRCA2):c.8633-1G>C
|
SNV Germline |
Chr13:32376669 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
No Assertion Criteria Provided |
CA387754593 |
rs_398122711 |
1 SubmittersRCV003494451 |
|
NM_000059.4(BRCA2):c.9766G>T (p.Glu3256Ter)
|
SNV Germline |
Chr13:32398279 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387765778 |
rs_1555289952 |
1 SubmittersRCV003530452 |
|
NM_000059.4(BRCA2):c.3125T>A (p.Leu1042Ter)
|
SNV Germline |
Chr13:32337480 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387775715 |
rs_1593898642 |
1 SubmittersRCV003530328 |
|
NM_000059.4(BRCA2):c.5176G>T (p.Glu1726Ter)
|
SNV Germline |
Chr13:32339531 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387784541 |
rs_2548530163 |
1 SubmittersRCV003530375 |
|
NM_000059.4(BRCA2):c.4565T>A (p.Leu1522Ter)
|
SNV Germline |
Chr13:32338920 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387781846 |
rs_1593902785 |
1 SubmittersRCV003530434 |
|
NM_000059.4(BRCA2):c.2705C>G (p.Ala902Gly)
|
SNV Germline |
Chr13:32337060 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387773516 |
rs_749258007 |
2 SubmittersRCV003530658RCV004950404 |
|
NM_000059.4(BRCA2):c.7675T>A (p.Ser2559Thr)
|
SNV Germline |
Chr13:32357799 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387745084 |
rs_2137566623 |
2 SubmittersRCV003530803RCV004369202 |
|
NM_000059.4(BRCA2):c.1271C>A (p.Ser424Ter)
|
SNV Germline |
Chr13:32332749 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387762380 |
rs_1566223138 |
1 SubmittersRCV003530964 |
|
NM_000059.4(BRCA2):c.8697A>T (p.Gln2899His)
|
SNV Germline |
Chr13:32376734 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387754840 |
rs_786203707 |
2 SubmittersRCV003531218RCV004950455 |
|
NM_000059.4(BRCA2):c.1810A>T (p.Lys604Ter)
|
SNV Germline |
Chr13:32333288 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387765966 |
rs_80358467 |
1 SubmittersRCV003531234 |
|
NM_000059.4(BRCA2):c.8994T>G (p.Ser2998=)
|
SNV Germline |
Chr13:32379790 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA483439828 |
rs_760667279 |
2 SubmittersRCV003531337RCV004950468 |
|
NM_000059.4(BRCA2):c.9225A>G (p.Ile3075Met)
|
SNV Germline |
Chr13:32380114 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387758495 |
rs_2137625584 |
2 SubmittersRCV003531194RCV004604981 |
|
NM_000059.4(BRCA2):c.9118-6C>A
|
SNV Germline |
Chr13:32380001 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA6941345 |
rs_81002890 |
2 SubmittersRCV003531195 |
|
NM_000059.4(BRCA2):c.7241C>A (p.Ser2414Ter)
|
SNV Germline |
Chr13:32355094 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387740371 |
rs_80358951 |
1 SubmittersRCV003531343 |
|
NM_000059.4(BRCA2):c.8482A>T (p.Ile2828Leu)
|
SNV Germline |
Chr13:32370552 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387752640 |
rs_80359098 |
4 SubmittersRCV003529845RCV003584376RCV005256922 |
|
NM_000059.4(BRCA2):c.476-1G>T
|
SNV Germline/somatic |
Chr13:32326241 |
Likely pathogenic |
Neoplasm Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387757604 |
rs_397507340 |
3 SubmittersRCV004673929RCV003586054 |
|
NM_000059.4(BRCA2):c.2588A>C (p.Asn863Thr)
|
SNV Germline |
Chr13:32336943 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772605 |
rs_760880622 |
2 SubmittersRCV003586070 |
|
NM_000059.4(BRCA2):c.3337G>T (p.Glu1113Ter)
|
SNV Germline |
Chr13:32337692 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387776298 |
rs_1482364471 |
3 SubmittersRCV005100411RCV003586076 |
|
NM_000059.4(BRCA2):c.6329A>T (p.Asp2110Val)
|
SNV Germline |
Chr13:32340684 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387789078 |
rs_80358873 |
3 SubmittersRCV003586110RCV005100414 |
|
NM_000059.4(BRCA2):c.8488-9T>G
|
SNV Germline |
Chr13:32370947 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA2695217936 |
rs_2137599630 |
2 SubmittersRCV003585014 |
|
NM_000059.4(BRCA2):c.8053A>T (p.Thr2685Ser)
|
SNV Germline |
Chr13:32363255 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA6941184 |
rs_761030046 |
2 SubmittersRCV003645429RCV004371546 |
|
NM_000059.4(BRCA2):c.2911T>G (p.Leu971Val)
|
SNV Germline |
Chr13:32337266 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome not specified |
Criteria Provided Conflicting Classifications |
CA387774191 |
rs_1555282936 |
2 SubmittersRCV003645505RCV005240854 |
|
NM_000059.4(BRCA2):c.9250A>T (p.Lys3084Ter)
|
SNV Germline |
Chr13:32380139 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387758688 |
rs_2137625880 |
1 SubmittersRCV003645587 |
|
NM_000059.4(BRCA2):c.9343A>T (p.Lys3115Ter)
|
SNV Germline |
Chr13:32394775 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA387761058 |
rs_2137652875 |
2 SubmittersRCV003645687RCV004011699 |
|
NM_000059.4(BRCA2):c.6666C>G (p.Tyr2222Ter)
|
SNV Germline |
Chr13:32341021 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387790489 |
rs_2137529597 |
1 SubmittersRCV003645682 |
|
NM_000059.4(BRCA2):c.1640C>G (p.Ser547Ter)
|
SNV Germline |
Chr13:32333118 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387764962 |
rs_80358449 |
1 SubmittersRCV003645672 |
|
NM_000059.4(BRCA2):c.2840T>A (p.Leu947Ter)
|
SNV Germline |
Chr13:32337195 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387773887 |
rs_2548524738 |
1 SubmittersRCV003645850 |
|
NM_000059.4(BRCA2):c.316+5G>T
|
SNV Germline |
Chr13:32319330 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA2739277551 |
rs_81002840 |
1 SubmittersRCV003645798 |
|
NM_000059.4(BRCA2):c.964A>T (p.Lys322Ter)
|
SNV Germline |
Chr13:32332442 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387760896 |
rs_11571640 |
1 SubmittersRCV003645811 |
|
NM_000059.4(BRCA2):c.815A>T (p.Asn272Ile)
|
SNV Germline |
Chr13:32332293 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387760405 |
rs_2548518857 |
2 SubmittersRCV003644572RCV004950569 |
|
NM_000059.4(BRCA2):c.8752G>T (p.Glu2918Ter)
|
SNV Germline |
Chr13:32376789 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387755091 |
rs_1555288179 |
1 SubmittersRCV003644554 |
|
NM_000059.4(BRCA2):c.8912A>C (p.Lys2971Thr)
|
SNV Germline |
Chr13:32379474 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387757267 |
rs_2137620416 |
2 SubmittersRCV003644581RCV005522879 |
|
NM_000059.4(BRCA2):c.7075A>T (p.Lys2359Ter)
|
SNV Germline |
Chr13:32354928 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387738423 |
rs_2137555713 |
1 SubmittersRCV003644616 |
|
NM_000059.4(BRCA2):c.5830A>T (p.Lys1944Ter)
|
SNV Germline |
Chr13:32340185 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387787322 |
rs_1555284415 |
1 SubmittersRCV003644628 |
|
NM_000059.4(BRCA2):c.4774A>G (p.Lys1592Glu)
|
SNV Germline |
Chr13:32339129 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387783177 |
rs_886040548 |
2 SubmittersRCV003644784RCV004374085 |
|
NM_000059.4(BRCA2):c.426-15T>G
|
SNV Germline |
Chr13:32326086 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA2622600591 |
rs_2137449224 |
2 SubmittersRCV003644793RCV004005847 |
|
NM_000059.4(BRCA2):c.6645C>A (p.Tyr2215Ter)
|
SNV Germline |
Chr13:32341000 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387790368 |
rs_80358892 |
1 SubmittersRCV003644842 |
|
NM_000059.4(BRCA2):c.5099G>A (p.Gly1700Asp)
|
SNV Germline |
Chr13:32339454 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387784118 |
rs_2072520161 |
2 SubmittersRCV003644840RCV004950661 |
|
NM_000059.4(BRCA2):c.317-8T>C
|
SNV Germline |
Chr13:32325068 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA2622599900 |
rs_2548513921 |
2 SubmittersRCV003607198RCV005101428 |
|
NM_000059.4(BRCA2):c.2260C>T (p.Gln754Ter)
|
SNV Germline |
Chr13:32336615 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387771001 |
rs_80358496 |
2 SubmittersRCV003855740RCV005522922 |
|
NM_000059.4(BRCA2):c.2573G>C (p.Arg858Thr)
|
SNV Germline |
Chr13:32336928 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387772572 |
rs_2137487821 |
2 SubmittersRCV003860389RCV005311088 |
|
NM_000059.4(BRCA2):c.6937+6A>G
|
SNV Germline |
Chr13:32344659 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Conflicting Classifications |
CA2740097649 |
rs_2548536090 |
2 SubmittersRCV003871979RCV004006172 |
|
NM_000059.4(BRCA2):c.4531G>C (p.Glu1511Gln)
|
SNV Germline |
Chr13:32338886 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387781704 |
rs_376338226 |
2 SubmittersRCV003872753RCV005311092 |
|
NM_000059.4(BRCA2):c.2987T>C (p.Leu996Pro)
|
SNV Germline |
Chr13:32337342 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387774596 |
rs_80358545 |
2 SubmittersRCV003880722RCV005537730 |
|
NM_000059.4(BRCA2):c.133G>A (p.Glu45Lys)
|
SNV Germline |
Chr13:32319142 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387754246 |
rs_397507581 |
2 SubmittersRCV003991191RCV005103172 |
|
NM_000059.4(BRCA2):c.8846G>A (p.Arg2949Lys)
|
SNV Germline |
Chr13:32379408 |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
CA387756250 |
rs_2137619776 |
2 SubmittersRCV004014745RCV004950771 |
|
NM_000059.4(BRCA2):c.9759T>A (p.Cys3253Ter)
|
SNV Germline |
Chr13:32398272 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387765736 |
rs_1377745229 |
1 SubmittersRCV004016597 |
|
NM_000059.4(BRCA2):c.7089T>A (p.Tyr2363Ter)
|
SNV Germline |
Chr13:32354942 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387738530 |
rs_2137555835 |
2 SubmittersRCV004016664RCV005403398 |
|
NM_000059.4(BRCA2):c.9278T>A (p.Leu3093Ter)
|
SNV Germline |
Chr13:32394710 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387760791 |
rs_2137652071 |
1 SubmittersRCV004018109 |
|
NM_000059.4(BRCA2):c.8833C>T (p.Gln2945Ter)
|
SNV Germline |
Chr13:32379395 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
CA387756184 |
rs_2137619671 |
1 SubmittersRCV004018177 |
|
NM_000059.4(BRCA2):c.760G>T (p.Glu254Ter)
|
SNV Unknown |
Chr13:32330997 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
CA387760129 |
rs_2137462003 |
1 SubmittersRCV004440243 |
|
NM_000059.4(BRCA2):c.5387A>G (p.Asp1796Gly)
|
SNV Germline |
Chr13:32339742 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387785244 |
rs_2137517026 |
2 SubmittersRCV004524517RCV005100613 |
|
NM_000059.4(BRCA2):c.7810C>G (p.Leu2604Val)
|
SNV Germline |
Chr13:32362527 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387746935 |
rs_1381434852 |
3 SubmittersRCV004522571RCV005100644 |
|
NM_000059.4(BRCA2):c.8041A>C (p.Thr2681Pro)
|
SNV Germline |
Chr13:32363243 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387749012 |
rs_2137580189 |
2 SubmittersRCV004522714RCV005100648 |
|
NM_000059.4(BRCA2):c.4076C>G (p.Thr1359Ser)
|
SNV Germline |
Chr13:32338431 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
CA387779167 |
rs_878853578 |
2 SubmittersRCV004521806RCV005059465 |
|
NM_000059.4(BRCA2):c.4393G>T (p.Glu1465Ter)
|
SNV Germline |
Chr13:32338748 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387781099 |
rs_2137505820 |
1 SubmittersRCV004521952 |
|
NM_000059.4(BRCA2):c.9404T>C (p.Leu3135Pro)
|
SNV Germline |
Chr13:32394836 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
CA387761382 |
rs_2073023723 |
2 SubmittersRCV004518303RCV005255784 |
|
NM_000059.4(BRCA2):c.9712A>T (p.Lys3238Ter)
|
SNV Germline |
Chr13:32398225 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387765441 |
rs_2137663102 |
2 SubmittersRCV004520368RCV005100666 |
|
NM_000059.4(BRCA2):c.308T>G (p.Leu103Ter)
|
SNV Germline |
Chr13:32319317 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387754705 |
rs_2138705883 |
1 SubmittersRCV004519379 |
|
NM_000059.4(BRCA2):c.3538A>T (p.Lys1180Ter)
|
SNV Germline |
Chr13:32337893 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387777150 |
rs_2137497630 |
1 SubmittersRCV004519537 |
|
NM_000059.4(BRCA2):c.6814A>T (p.Arg2272Ter)
|
SNV Germline |
Chr13:32341169 |
Pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
CA387791409 |
rs_2137530879 |
2 SubmittersRCV004517826RCV005100637 |
|
NM_000059.4(BRCA2):c.227C>A (p.Ser76Ter)
|
SNV Germline |
Chr13:32319236 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
CA387754484 |
rs_80358498 |
1 SubmittersRCV004517091 |
|
NM_000059.4(BRCA2):c.7165A>T (p.Arg2389Ter)
|
SNV Germline |
Chr13:32355018 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
|
rs_2137556511 |
1 SubmittersRCV004556993 |
|
NM_000059.4(BRCA2):c.2129C>A (p.Ser710Ter)
|
SNV Germline |
Chr13:32336484 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
|
rs_886040405 |
1 SubmittersRCV004556999 |
|
NM_000059.4(BRCA2):c.9361G>T (p.Ala3121Ser)
|
SNV Germline |
Chr13:32394793 |
Conflicting classifications of pathogenicity |
Familial cancer of breast Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
|
rs_2137653139 |
2 SubmittersRCV004575445RCV004950801 |
|
NM_000059.4(BRCA2):c.8185A>T (p.Lys2729Ter)
|
SNV Unknown |
Chr13:32363387 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
|
rs_2072758358 |
1 SubmittersRCV004589002 |
|
NM_000059.4(BRCA2):c.7618C>T (p.Leu2540=)
|
SNV Germline |
Chr13:32357742 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV004607131RCV005059608 |
|
NM_000059.4(BRCA2):c.8960T>G (p.Leu2987Arg)
|
SNV Germline |
Chr13:32379756 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004602379 |
|
NM_000059.4(BRCA2):c.3088T>C (p.Phe1030Leu)
|
SNV Germline |
Chr13:32337443 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
|
|
3 SubmittersRCV004602262RCV005000566RCV005102100 |
|
NM_000059.4(BRCA2):c.5455C>A (p.Pro1819Thr)
|
SNV Germline |
Chr13:32339810 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV004602266RCV005102101 |
|
NM_000059.4(BRCA2):c.5062G>T (p.Glu1688Ter)
|
SNV Germline |
Chr13:32339417 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004602304 |
|
NM_000059.4(BRCA2):c.8510G>C (p.Gly2837Ala)
|
SNV Germline |
Chr13:32370978 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV004602308RCV005102102 |
|
NM_000059.4(BRCA2):c.2517C>G (p.Tyr839Ter)
|
SNV Germline |
Chr13:32336872 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004607128 |
|
NM_000059.4(BRCA2):c.7116A>C (p.Ser2372=)
|
SNV Germline |
Chr13:32354969 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Condition: not provided |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV004602330RCV005000567 |
|
NM_000059.4(BRCA2):c.8221A>T (p.Lys2741Ter)
|
SNV Germline |
Chr13:32363423 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004602333 |
|
NM_000059.4(BRCA2):c.2113G>T (p.Glu705Ter)
|
SNV Germline |
Chr13:32336468 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004702826 |
|
NM_000059.4(BRCA2):c.794-1G>A
|
SNV Germline |
Chr13:32332271 |
Likely pathogenic |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
|
|
2 SubmittersRCV004719444RCV004764810 |
|
NM_000059.4(BRCA2):c.9221T>C (p.Leu3074Pro)
|
SNV Germline |
Chr13:32380110 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004785263 |
|
NM_000059.4(BRCA2):c.4847T>A (p.Leu1616Ter)
|
SNV Unknown |
Chr13:32339202 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004791802 |
|
NM_000059.4(BRCA2):c.716G>A (p.Ser239Asn)
|
SNV Germline |
Chr13:32330953 |
Conflicting classifications of pathogenicity |
BRCA2-related cancer predisposition Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
|
|
3 SubmittersRCV004802913RCV004951853RCV005105193 |
|
NM_000059.4(BRCA2):c.8674A>T (p.Arg2892Ter)
|
SNV Germline |
Chr13:32376711 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004952534 |
|
NM_000059.4(BRCA2):c.3541C>T (p.Gln1181Ter)
|
SNV Germline |
Chr13:32337896 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004952371 |
|
NM_000059.4(BRCA2):c.9156G>A (p.Arg3052=)
|
SNV Germline |
Chr13:32380045 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV004952385 |
|
NM_000059.4(BRCA2):c.9749C>A (p.Ser3250Ter)
|
SNV Germline |
Chr13:32398262 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004952396 |
|
NM_000059.4(BRCA2):c.6841+2T>A
|
SNV Germline |
Chr13:32341198 |
Likely pathogenic |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Multiple Submitters No Conflicts |
|
|
2 SubmittersRCV004952398RCV005110061 |
|
NM_000059.4(BRCA2):c.2557C>T (p.Gln853Ter)
|
SNV Germline |
Chr13:32336912 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004952415 |
|
NM_000059.4(BRCA2):c.5327T>A (p.Leu1776Ter)
|
SNV Germline |
Chr13:32339682 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV004952441 |
|
NM_000059.4(BRCA2):c.7889A>G (p.Lys2630Arg)
|
SNV Germline |
Chr13:32362606 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV004952456RCV005110067 |
|
NM_000059.4(BRCA2):c.1475C>T (p.Ser492Phe)
|
SNV Germline |
Chr13:32332953 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV005110070RCV004952499 |
|
NM_000059.4(BRCA2):c.320G>A (p.Arg107Lys)
|
SNV Germline |
Chr13:32325079 |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV004952519RCV005110071 |
|
NM_000059.4(BRCA2):c.1309A>T (p.Lys437Ter)
|
SNV Unknown |
Chr13:32332787 |
Pathogenic/Likely pathogenic |
Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Multiple Submitters No Conflicts |
|
|
2 SubmittersRCV004999073RCV005422537 |
|
NM_000059.4(BRCA2):c.3654C>G (p.Gly1218=)
|
SNV Germline |
Chr13:32338009 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV004999083RCV005112510 |
|
NM_000059.4(BRCA2):c.6356A>G (p.Asn2119Ser)
|
SNV Germline |
Chr13:32340711 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV004999092RCV005311144 |
|
NM_000059.4(BRCA2):c.8574A>G (p.Gln2858=)
|
SNV Germline |
Chr13:32371042 |
Conflicting classifications of pathogenicity |
Condition: not provided Hereditary breast ovarian cancer syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV004999103RCV005112513 |
|
NM_000059.4(BRCA2):c.3478A>T (p.Arg1160Ter)
|
SNV Germline |
Chr13:32337833 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005071289 |
|
NM_000059.4(BRCA2):c.3487G>C (p.Asp1163His)
|
SNV Germline |
Chr13:32337842 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV005109596RCV005522998 |
|
NM_000059.4(BRCA2):c.1286T>A (p.Leu429Ter)
|
SNV Germline |
Chr13:32332764 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005117382 |
|
NM_000059.4(BRCA2):c.9284A>T (p.Asp3095Val)
|
SNV Germline |
Chr13:32394716 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
|
|
3 SubmittersRCV005109699RCV005429127RCV005523000 |
|
NM_000059.4(BRCA2):c.929T>G (p.Leu310Ter)
|
SNV Germline |
Chr13:32332407 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
|
|
2 SubmittersRCV005119892RCV005311180 |
|
NM_000059.4(BRCA2):c.2283T>G (p.Tyr761Ter)
|
SNV Germline |
Chr13:32336638 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005116943 |
|
NM_000059.4(BRCA2):c.2449A>T (p.Lys817Ter)
|
SNV Germline |
Chr13:32336804 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005130020 |
|
NM_000059.4(BRCA2):c.3427G>T (p.Glu1143Ter)
|
SNV Germline |
Chr13:32337782 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005130180 |
|
NM_000059.4(BRCA2):c.7805+1G>T
|
SNV Germline |
Chr13:32357930 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005131202 |
|
NM_000059.4(BRCA2):c.9080T>G (p.Leu3027Ter)
|
SNV Germline |
Chr13:32379876 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005141090 |
|
NM_000059.4(BRCA2):c.4069C>G (p.Leu1357Val)
|
SNV Germline |
Chr13:32338424 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV005154520RCV005537805 |
|
NM_000059.4(BRCA2):c.126T>G (p.Tyr42Ter)
|
SNV Germline |
Chr13:32319135 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005174179 |
|
NM_000059.4(BRCA2):c.9801G>T (p.Lys3267Asn)
|
SNV Germline |
Chr13:32398314 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV005165387RCV005523019 |
|
NM_000059.4(BRCA2):c.4123G>T (p.Glu1375Ter)
|
SNV Germline |
Chr13:32338478 |
Pathogenic |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Multiple Submitters No Conflicts |
|
|
2 SubmittersRCV005182911RCV005537814 |
|
NM_000059.4(BRCA2):c.8574A>T (p.Gln2858His)
|
SNV Germline |
Chr13:32371042 |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Criteria Provided Conflicting Classifications |
|
|
2 SubmittersRCV005179275RCV005523023 |
|
NM_000059.4(BRCA2):c.4067T>A (p.Leu1356Ter)
|
SNV Germline |
Chr13:32338422 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005204039 |
|
NM_000059.4(BRCA2):c.2857G>T (p.Glu953Ter)
|
SNV Germline |
Chr13:32337212 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005203091 |
|
NM_000059.4(BRCA2):c.8981C>G (p.Ser2994Ter)
|
SNV Germline |
Chr13:32379777 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005201292 |
|
NM_000059.4(BRCA2):c.6841+1G>T
|
SNV Germline |
Chr13:32341197 |
Likely pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005199073 |
|
NM_000059.4(BRCA2):c.5347A>T (p.Lys1783Ter)
|
SNV Germline |
Chr13:32339702 |
Pathogenic |
Hereditary breast ovarian cancer syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005206955 |
|
NM_000059.4(BRCA2):c.2542A>T (p.Lys848Ter)
|
SNV Germline |
Chr13:32336897 |
Pathogenic |
Familial cancer of breast Condition: not provided |
Criteria Provided Multiple Submitters No Conflicts |
|
|
2 SubmittersRCV005412743RCV005231862 |
|
NM_000059.4(BRCA2):c.8693T>A (p.Leu2898Ter)
|
SNV Unknown |
Chr13:32376730 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005247791 |
|
NM_000059.4(BRCA2):c.7533T>A (p.Tyr2511Ter)
|
SNV Germline |
Chr13:32356525 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005309403 |
|
NM_000059.4(BRCA2):c.4627A>T (p.Lys1543Ter)
|
SNV Germline |
Chr13:32338982 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005309469 |
|
NM_000059.4(BRCA2):c.3158T>A (p.Leu1053Ter)
|
SNV Germline |
Chr13:32337513 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005403660 |
|
NM_000059.4(BRCA2):c.1662T>A (p.Cys554Ter)
|
SNV Germline |
Chr13:32333140 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005407461 |
|
NM_000059.4(BRCA2):c.2572A>T (p.Arg858Ter)
|
SNV Unknown |
Chr13:32336927 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005427555 |
|
NM_000059.4(BRCA2):c.9499G>T (p.Glu3167Ter)
|
SNV Germline |
Chr13:32394931 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005529627 |
|
NM_000059.4(BRCA2):c.3410T>A (p.Leu1137Ter)
|
SNV Germline |
Chr13:32337765 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005529665 |
|
NM_000059.4(BRCA2):c.9117+1G>C
|
SNV Germline |
Chr13:32379914 |
Pathogenic |
Hereditary cancer-predisposing syndrome |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005537910 |
|
NM_000059.4(BRCA2):c.1276A>T (p.Lys426Ter)
|
SNV Germline |
Chr13:32332754 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005600493 |
|
NM_000059.4(BRCA2):c.4141A>T (p.Lys1381Ter)
|
SNV Unknown |
Chr13:32338496 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005621522 |
|
NM_000059.4(BRCA2):c.1135G>T (p.Gly379Ter)
|
SNV Unknown |
Chr13:32332613 |
Pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005621591 |
|
NM_000059.4(BRCA2):c.8754G>C (p.Glu2918Asp)
|
SNV Unknown |
Chr13:32376791 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005621781 |
|
NM_000059.4(BRCA2):c.8020A>T (p.Lys2674Ter)
|
SNV Germline |
Chr13:32363222 |
Likely pathogenic |
Condition: not provided |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005621840 |
|
NM_000059.4(BRCA2):c.5548A>T (p.Lys1850Ter)
|
SNV Germline |
Chr13:32339903 |
Likely pathogenic |
Breast-ovarian cancer, familial, susceptibility to, 2 |
Criteria Provided Single Submitter |
|
|
1 SubmittersRCV005624212 |