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