| - GRCh37:
- Chr11:108155180
- GRCh38:
- Chr11:108284453
| ATM | E1325* | Breast cancer, susceptibility to | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr5:162911217
- GRCh38:
- Chr5:163484211
| HMMR, HMMR-AS1 | V556A, V627A, V642A, V643A | Breast cancer, susceptibility to | Uncertain significance
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23646568
- GRCh38:
- Chr16:23635247
| PALB2 | L433F | Breast cancer, susceptibility to, Pancreatic cancer, susceptibility to, 3 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr16:23634311-23634312
- GRCh38:
- Chr16:23622990-23622991
| PALB2 | M992fs | Breast cancer, susceptibility to, Pancreatic cancer, susceptibility to, 3, Hereditary cancer-predisposing syndrome
| Pathogenic/Likely pathogenic
(Oct 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29121089
- GRCh38:
- Chr22:28725101
| CHEK2 | Y156*, Y199* | Familial cancer of breast, Prostate cancer, susceptibility to, Breast cancer, susceptibility to
| Pathogenic/Likely pathogenic
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108121656
- GRCh38:
- Chr11:108250929
| ATM | W488* | Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to,
Hereditary cancer-predisposing syndrome, Abnormal central motor function | Conflicting interpretations of pathogenicity
(Jul 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:23640597
- GRCh38:
- Chr16:23629276
| PALB2 | | Familial cancer of breast, Breast cancer, susceptibility to, Pancreatic cancer, susceptibility to, 3,
Hereditary cancer-predisposing syndrome | Likely pathogenic
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108235869
- GRCh38:
- Chr11:108365142
| ATM, C11orf65 | Q2971* | Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome,
Ataxia-telangiectasia syndrome | Pathogenic/Likely pathogenic
(Oct 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32944671-32944678
- GRCh38:
- Chr13:32370534-32370541
| BRCA2 | I2822fs | Breast cancer, susceptibility to | Likely pathogenic
(Mar 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:1219376
- GRCh38:
- Chr19:1219377
| STK11 | V143A | Breast cancer, susceptibility to | Uncertain significance
(Mar 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32912517
- GRCh38:
- Chr13:32338380
| BRCA2 | S1342N | BRCA2-related condition, Ovarian cancer, Hereditary breast ovarian cancer syndrome,
Hereditary cancer-predisposing syndrome, Breast cancer, susceptibility to | Conflicting interpretations of pathogenicity
(Apr 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32937504
- GRCh38:
- Chr13:32363367
| BRCA2 | T2722I | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast cancer, susceptibility to
| Conflicting interpretations of pathogenicity
(Nov 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32944684
- GRCh38:
- Chr13:32370547
| BRCA2 | Y2826F | Hereditary cancer-predisposing syndrome, Breast cancer, susceptibility to | Uncertain significance
(Oct 18, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32914640-32914641
- GRCh38:
- Chr13:32340503-32340504
| BRCA2 | N2051fs | Breast cancer, susceptibility to | Likely pathogenic
(Mar 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32893412
- GRCh38:
- Chr13:32319275
| BRCA2 | P89Q | Breast cancer, susceptibility to | Uncertain significance
(Mar 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32950884-32950885
- GRCh38:
- Chr13:32376747-32376748
| BRCA2 | Y2905fs | Breast cancer, susceptibility to | Likely pathogenic
(Mar 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41246105-41246106
- GRCh38:
- Chr17:43094088-43094089
| BRCA1 | I435fs, I482fs, I354fs, I355fs, I371fs, I186fs, I411fs, I415fs, I440fs, I456fs, I479fs, I481fs, I314fs, I393fs, I412fs, I441fs, I370fs, I394fs, I414fs, I434fs, I455fs | Breast cancer, susceptibility to | Likely pathogenic
(Mar 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41226443-41226444
- GRCh38:
- Chr17:43074426-43074427
| BRCA1 | E1548M, E423M, E1480M, E1527M, E1230M, E1437M, E1455M, E1479M, E256M, E334M, E352M, E353M, E357M, E375M, E384M, E385M, E397M, E398M, E421M, E658M, E1399M, E1416M, E1457M, E1458M, E1460M, E1483M, E1485M, E1499M, E1501M, E1400M, E1438M, E1439M, E1456M, E1478M, E1484M, E1522M, E1523M, E1524M, E1525M, E296M, E311M, E354M, E399M, E420M, E422M, E659M, E1508M, E1549M, E310M, E314M, E315M, E336M, E356M, E376M, E377M, E379M, E381M, E383M, E445M, E1231M, E1358M, E1398M, E1414M, E1415M, E1486M, E1500M, E1507M, E1526M, E1547M, E297M, E335M, E342M, E344M, E382M, E424M, E446M | Hereditary cancer-predisposing syndrome, Breast cancer, susceptibility to | Uncertain significance
(Feb 28, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:41256914
- GRCh38:
- Chr17:43104897
| BRCA1 | C91Y, C44Y, C47Y, C21Y, C65Y | Breast cancer, susceptibility to | Uncertain significance
(Mar 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:41246224
- GRCh38:
- Chr17:43094207
| BRCA1 | C442S, C395S, C330S, C331S, C372S, C415S, C416S, C274S, C315S, C400S, C401S, C314S, C353S, C354S, C375S, C394S, C146S, C371S, C374S, C439S, C441S | Hereditary cancer-predisposing syndrome, Breast cancer, susceptibility to | Conflicting interpretations of pathogenicity
(Mar 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:90965787
- GRCh38:
- Chr8:89953559
| NBN | E510D, E428D | Microcephaly, normal intelligence and immunodeficiency, not provided, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Nov 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29115459-29115460
- GRCh38:
- Chr22:28719471-28719472
| CHEK2 | D203*, D246* | Breast cancer, susceptibility to, Prostate cancer, susceptibility to, Hereditary cancer-predisposing syndrome,
Familial cancer of breast | Pathogenic/Likely pathogenic
(Jun 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29130390
- GRCh38:
- Chr22:28734402
| CHEK2 | | Familial cancer of breast, Breast cancer, susceptibility to, Prostate cancer, susceptibility to,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Jun 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32893258
- GRCh38:
- Chr13:32319121
| BRCA2 | E38K | Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome,
not provided | Uncertain significance
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108143509
- GRCh38:
- Chr11:108272782
| ATM | E1072* | Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome,
Hereditary cancer-predisposing syndrome, not provided | Pathogenic
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23649390
- GRCh38:
- Chr16:23638069
| PALB2 | | Breast cancer, susceptibility to, Pancreatic cancer, susceptibility to, 3, Hereditary cancer-predisposing syndrome,
Familial cancer of breast, not provided | Likely pathogenic
(May 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32912375
- GRCh38:
- Chr13:32338238
| BRCA2 | Q1295* | Breast-ovarian cancer, familial, susceptibility to, 2 | Pathogenic
(Dec 15, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr11:108175528
- GRCh38:
- Chr11:108304801
| ATM | R1875* | Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome,
Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast
| Pathogenic
(Dec 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:89725071-89725073
- GRCh38:
- Chr10:87965314-87965316
| PTEN | E353del, E156del, E526del | Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome, Breast cancer, susceptibility to
| Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32911211
- GRCh38:
- Chr13:32337074
| BRCA2 | K907E | not provided, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome,
Breast cancer, susceptibility to | Conflicting interpretations of pathogenicity
(Mar 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:41244192
- GRCh38:
- Chr17:43092175
| BRCA1, LOC126862571 | T1119S, T1072S, T1008S, T1048S, T951S, T1030S, T1031S, T1078S, T1093S, T1118S, T823S, T991S, T992S, T1049S, T1051S, T1071S, T1092S, T1116S, T1007S, T1052S, T1077S | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast cancer, susceptibility to
| Conflicting interpretations of pathogenicity
(Mar 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:108188128
- GRCh38:
- Chr11:108317401
| ATM, C11orf65 | L2077fs | Hereditary cancer-predisposing syndrome, Breast cancer, susceptibility to, not provided,
Ataxia-telangiectasia syndrome | Pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108235935
- GRCh38:
- Chr11:108365208
| ATM, C11orf65 | R2993* | Hereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome,
Breast cancer, susceptibility to, Familial cancer of breast, Ataxia-telangiectasia syndrome
| Pathogenic/Likely pathogenic
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108236050
- GRCh38:
- Chr11:108365323
| ATM, C11orf65 | | Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome,
Ataxia-telangiectasia syndrome | Pathogenic/Likely pathogenic
(May 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108142105
- GRCh38:
- Chr11:108271378
| ATM | Q1017* | Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome,
not provided, Ataxia-telangiectasia syndrome | Pathogenic/Likely pathogenic
(Nov 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108214099-108214102
- GRCh38:
- Chr11:108343372-108343375
| C11orf65, ATM | | Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome,
Familial cancer of breast, Ataxia-telangiectasia syndrome, not provided
| Pathogenic
(Feb 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23647641
- GRCh38:
- Chr16:23636320
| PALB2 | | Pancreatic cancer, susceptibility to, 3, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome,
Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
not provided, BAP1-related tumor predisposition syndrome, Familial cancer of breast
| Pathogenic/Likely pathogenic
(Mar 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29130389
- GRCh38:
- Chr22:28734401
| CHEK2 | | Breast cancer, susceptibility to, Prostate cancer, susceptibility to, Hereditary cancer-predisposing syndrome,
Li-Fraumeni syndrome 2, Familial cancer of breast, Bone osteosarcoma,
Malignant tumor of prostate, not provided, Familial cancer of breast
| Pathogenic/Likely pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23647443
- GRCh38:
- Chr16:23636122
| PALB2 | K142* | PALB2-related disorder, Hereditary cancer-predisposing syndrome, not provided,
Familial cancer of breast, Breast cancer, susceptibility to, Malignant tumor of breast
| Pathogenic
(Sep 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23634322
- GRCh38:
- Chr16:23623001
| PALB2 | | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N,
Pancreatic cancer, susceptibility to, 3, not provided, Familial cancer of breast,
Breast cancer, susceptibility to | Pathogenic
(Aug 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108214075
- GRCh38:
- Chr11:108343348
| ATM, C11orf65 | Q2800fs | Hereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome,
Breast cancer, susceptibility to | Pathogenic
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108106446
- GRCh38:
- Chr11:108235719
| ATM | | Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome,
not provided, Ataxia-telangiectasia syndrome, Familial cancer of breast
| Pathogenic/Likely pathogenic
(Oct 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108181032
- GRCh38:
- Chr11:108310305
| ATM, C11orf65 | Q1970* | Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to, Hereditary cancer-predisposing syndrome,
Familial cancer of breast, Ataxia-telangiectasia syndrome, not provided,
Ataxia-telangiectasia syndrome | Pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215617196
- GRCh38:
- Chr2:214752472
| BARD1 | S551*, S532*, S100*, S81* | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast,
Breast cancer, susceptibility to | Pathogenic/Likely pathogenic
(Oct 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108216596
- GRCh38:
- Chr11:108345869
| C11orf65, ATM | R2849* | Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome,
not provided, Ataxia-telangiectasia syndrome, Tip-toe gait
| Pathogenic/Likely pathogenic
(Dec 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23641355
- GRCh38:
- Chr16:23630034
| PALB2 | | Breast cancer, susceptibility to, Pancreatic cancer, susceptibility to, 3, Hereditary cancer-predisposing syndrome,
not provided, Familial cancer of breast | Pathogenic
(May 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29121230
- GRCh38:
- Chr22:28725242
| CHEK2 | | Melanoma, CHEK2-Related Cancer Susceptibility, Hereditary cancer-predisposing syndrome,
Familial cancer of breast, Li-Fraumeni syndrome 2, Malignant tumor of prostate,
Bone osteosarcoma, Colorectal cancer, not provided,
Breast and colorectal cancer, susceptibility to, Li-Fraumeni syndrome 2Familial cancer of breast,
Breast cancer, susceptibility to, ...see more | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29121326
- GRCh38:
- Chr22:28725338
| CHEK2 | R117G, R160G | Familial cancer of breast, CHEK2-related disorder, not provided,
Malignant tumor of breast, CHEK2-Related Cancer Susceptibility, Hereditary breast ovarian cancer syndrome,
Predisposition to cancer, Prostate cancer, susceptibility to, Breast cancer, susceptibility to,
Breast and/or ovarian cancer, Hereditary cancer-predisposing syndromeLi-Fraumeni syndrome 2,
Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma,
Malignant tumor of prostate, Colorectal cancer, ...see more | Pathogenic/Likely pathogenic
(Mar 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29091857
- GRCh38:
- Chr22:28695869
| CHEK2 | T146fs, T338fs, T410fs, T300fs, T367fs | Predisposition to cancer, CHEK2-Related Cancer Susceptibility, CHEK2-related condition,
Familial cancer of breast, Malignant tumor of prostate, Colorectal cancer,
Breast and/or ovarian cancer, Familial cancer of breast, Li-Fraumeni syndrome 2,
Malignant tumor of prostate, Bone osteosarcomaAstrocytoma,
Colorectal cancer, Breast neoplasm, Hereditary cancer-predisposing syndrome,
not provided, Hereditary breast ovarian cancer syndrome, Li-Fraumeni syndrome 1,
Li-Fraumeni syndrome, Breast and colorectal cancer, susceptibility to, Li-Fraumeni syndrome 2,
Familial cancer of breast, Thrombocytopenia, Inflammation of the large intestine,
Colitis, Hematochezia, ...see more | Conflicting interpretations of pathogenicity
(Oct 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:131939181
- GRCh38:
- Chr5:132603489
| RAD50 | Q799H | not specified, Hereditary cancer-predisposing syndrome, not provided,
Nijmegen breakage syndrome-like disorder | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:108183151
- GRCh38:
- Chr11:108312424
| C11orf65, ATM | E1978* | Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome, Breast and/or ovarian cancer,
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Ataxia-telangiectasia syndrome,
not provided, Familial cancer of breast, Ataxia-telangiectasia syndrome
| Pathogenic
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108098600
- GRCh38:
- Chr11:108227873
| ATM | W57* | Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome,
not provided, Familial cancer of breast, Ataxia-telangiectasia syndrome
| Pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:108121531
- GRCh38:
- Chr11:108250804
| ATM | R447* | Breast cancer, susceptibility to, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome,
not provided, Ataxia-telangiectasia syndrome | Pathogenic/Likely pathogenic
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23647357-23647358
- GRCh38:
- Chr16:23636036-23636037
| PALB2 | | Breast cancer, susceptibility to, Pancreatic cancer, susceptibility to, 3, PALB2-related condition,
PALB2-Related Disorders, Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome,
Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3,
not specified, not providedBreast-ovarian cancer, familial, susceptibility to, 1,
Familial cancer of breast, Fanconi anemia complementation group N, Malignant tumor of breast,
...see more | Pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23625410
- GRCh38:
- Chr16:23614089
| PALB2 | | Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome, Familial cancer of breast,
Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, Hereditary breast ovarian cancer syndrome,
not provided, Familial cancer of breast | Pathogenic/Likely pathogenic
(May 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23632683
- GRCh38:
- Chr16:23621362
| PALB2 | W1038* | Familial cancer of breast | Pathogenic
(Apr 5, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr16:23641152
- GRCh38:
- Chr16:23629831
| PALB2 | Q775* | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast,
Malignant tumor of breast | Pathogenic
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23646275
- GRCh38:
- Chr16:23634954
| PALB2 | L531fs | Familial cancer of breast | Pathogenic
(Apr 5, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr16:23646840
- GRCh38:
- Chr16:23635519
| PALB2 | Q343* | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast
| Pathogenic
(Feb 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32915336
- GRCh38:
- Chr13:32341199
| BRCA2 | | not provided | Uncertain significance
(Oct 6, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:47481625
- GRCh38:
- Chr17:49404263
| PHB1 | | Breast cancer, susceptibility to | risk factor
(May 19, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr14:104165927
- GRCh38:
- Chr14:103699590
| KLC1, XRCC3 | | Breast cancer, susceptibility to | risk factor
(Jun 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr2:215617178
- GRCh38:
- Chr2:214752454
| BARD1 | C557S, C106S, C538S, C87S | Hereditary cancer-predisposing syndrome, not specified, Hereditary breast ovarian cancer syndrome,
Familial cancer of breast | Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29091207
- GRCh38:
- Chr22:28695219
| CHEK2 | S428F, S399F, S207F, S361F, S471F | CHEK2-Related Cancer Susceptibility, CHEK2-related cancer risk, Li-Fraumeni syndrome 2,
Familial cancer of breast, Malignant tumor of prostate, Bone osteosarcoma,
Colorectal cancer, Hereditary cancer-predisposing syndrome, Breast neoplasm,
not provided, Hereditary breast ovarian cancer syndromeBreast and colorectal cancer, susceptibility to,
Familial cancer of breast, ...see more | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:108098576
- GRCh38:
- Chr11:108227849
| ATM | S49C | Familial cancer of breast | Benign
(Mar 9, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr11:108143540-108143542
- GRCh38:
- Chr11:108272813-108272815
| ATM | H1082fs | Familial cancer of breast | Pathogenic
(Mar 9, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr11:108199929
- GRCh38:
- Chr11:108329202
| ATM, C11orf65 | V2424G | Familial cancer of breast | Pathogenic
(Mar 9, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr10:104593831
- GRCh38:
- Chr10:102834074
| CYP17A1, CYP17A1-AS1 | R239* | not provided | Pathogenic
(Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23634324
- GRCh38:
- Chr16:23623003
| PALB2 | Q988* | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast
| Pathogenic
(Apr 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614792
- GRCh38:
- Chr16:23603471
| PALB2 | Y1183* | PALB2-Related Disorders, Hereditary cancer-predisposing syndrome, not provided,
Familial cancer of breast, Fanconi anemia complementation group N | Pathogenic/Likely pathogenic
(Nov 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112175211
- GRCh38:
- Chr5:112839514
| APC | I1307K, I1289K, I1266K, I1317K, I1325K, I1147K, I1206K, I1216K, I1282K, I1024K, I1181K, I1248K, I1279K | Colorectal cancer, Hereditary cancer-predisposing syndrome, not provided,
not specified, Familial multiple polyposis syndrome, Familial adenomatous polyposis 1,
Carcinoma of colon, Colorectal cancer, susceptibility to | Conflicting interpretations of pathogenicity; association; risk factor
(Aug 15, 2023) | criteria provided, conflicting interpretations |