| - GRCh37:
- Chr13:32903605-32903606
- GRCh38:
- Chr13:32329468-32329469
| BRCA2 | V220fs | Fanconi anemia complementation group D1 | Pathogenic
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32913281-32913282
- GRCh38:
- Chr13:32339144-32339145
| BRCA2 | L1598fs | Fanconi anemia complementation group D1, Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3,
Medulloblastoma, Wilms tumor 1, Malignant tumor of prostate,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Hereditary breast ovarian cancer syndrome
| Pathogenic
(Apr 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32913225
- GRCh38:
- Chr13:32339088
| BRCA2 | L1578* | Fanconi anemia complementation group D1, Hereditary breast ovarian cancer syndrome | Pathogenic/Likely pathogenic
(Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32913926
- GRCh38:
- Chr13:32339789
| BRCA2 | E1812K | Hereditary cancer-predisposing syndrome, Wilms tumor 1, Familial cancer of breast,
Medulloblastoma, Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2,
Glioma susceptibility 3, Malignant tumor of prostate, Pancreatic cancer, susceptibility to, 2
| Uncertain significance
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32912308
- GRCh38:
- Chr13:32338171
| BRCA2 | M1272I | Hereditary breast ovarian cancer syndrome | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32893330
- GRCh38:
- Chr13:32319193
| BRCA2 | F62L | Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32973530
- GRCh38:
- Chr13:32399393
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32906459
- GRCh38:
- Chr13:32332322
| BRCA2 | H282D | Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32903577
- GRCh38:
- Chr13:32329440
| BRCA2 | | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2
| Conflicting interpretations of pathogenicity
(Dec 2, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32906839
- GRCh38:
- Chr13:32332702
| BRCA2 | M408I | Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32889624
- GRCh38:
- Chr13:32315487
| BRCA2, LOC106721785 | | Hereditary cancer-predisposing syndrome, not provided, Hereditary breast ovarian cancer syndrome,
Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1 | Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32972410
- GRCh38:
- Chr13:32398273
| BRCA2 | K3254E | Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32973178
- GRCh38:
- Chr13:32399041
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32973041
- GRCh38:
- Chr13:32398904
| BRCA2 | | Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Apr 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32906557
- GRCh38:
- Chr13:32332420
| BRCA2 | | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial, susceptibility to, 2,
Fanconi anemia complementation group D1 | Conflicting interpretations of pathogenicity
(Jun 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32910741
- GRCh38:
- Chr13:32336604
| BRCA2 | D750V | Fanconi anemia complementation group D1, Wilms tumor 1, Malignant tumor of prostate,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Medulloblastoma,
Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3, Hereditary breast ovarian cancer syndrome
| Uncertain significance
(Dec 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32913278
- GRCh38:
- Chr13:32339141
| BRCA2 | N1596fs | Hereditary breast ovarian cancer syndrome | Pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32912802
- GRCh38:
- Chr13:32338665
| BRCA2 | S1437T | Medulloblastoma, Wilms tumor 1, Malignant tumor of prostate,
Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3, Fanconi anemia complementation group D1,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, not specified
| Uncertain significance
(Mar 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32914096
- GRCh38:
- Chr13:32339959
| BRCA2 | | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2,
Fanconi anemia complementation group D1 | Conflicting interpretations of pathogenicity
(Dec 27, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32913945
- GRCh38:
- Chr13:32339808
| BRCA2 | S1818* | Fanconi anemia complementation group D1, Hereditary cancer-predisposing syndrome | Pathogenic
(Jan 14, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32900726-32900727
- GRCh38:
- Chr13:32326589-32326590
| BRCA2 | L204fs | Hereditary cancer-predisposing syndrome, not provided, Malignant tumor of prostate,
Medulloblastoma, Familial cancer of breast, Pancreatic cancer, susceptibility to, 2,
Glioma susceptibility 3, Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1,
Wilms tumor 1, Hereditary breast ovarian cancer syndrome ...see more | Pathogenic/Likely pathogenic
(Apr 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32911512
- GRCh38:
- Chr13:32337375
| BRCA2 | G1007V | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Medulloblastoma,
Wilms tumor 1, Glioma susceptibility 3, Malignant tumor of prostate,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1,
Pancreatic cancer, susceptibility to, 2 | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32900747
- GRCh38:
- Chr13:32326610
| BRCA2 | I210V | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer, familial, susceptibility to, 2,
Fanconi anemia complementation group D1 | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32972343
- GRCh38:
- Chr13:32398206
| BRCA2 | L3232fs | Fanconi anemia complementation group D1 | Pathogenic
(Apr 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32929153
- GRCh38:
- Chr13:32355016
| BRCA2 | T2388I | Wilms tumor 1, Malignant tumor of prostate, Familial cancer of breast,
Medulloblastoma, Breast-ovarian cancer, familial, susceptibility to, 2, Pancreatic cancer, susceptibility to, 2,
Glioma susceptibility 3, Fanconi anemia complementation group D1, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32907132
- GRCh38:
- Chr13:32332995
| BRCA2 | F506S | Wilms tumor 1, Breast-ovarian cancer, familial, susceptibility to, 2, Malignant tumor of prostate,
Glioma susceptibility 3, Pancreatic cancer, susceptibility to, 2, Fanconi anemia complementation group D1,
Familial cancer of breast, Medulloblastoma, Hereditary cancer-predisposing syndrome,
Hereditary breast ovarian cancer syndrome, not provided ...see more | Uncertain significance
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32912888
- GRCh38:
- Chr13:32338751
| BRCA2 | L1466I | Wilms tumor 1, Breast-ovarian cancer, familial, susceptibility to, 2, Malignant tumor of prostate,
Glioma susceptibility 3, Pancreatic cancer, susceptibility to, 2, Fanconi anemia complementation group D1,
Familial cancer of breast, Medulloblastoma, Hereditary breast ovarian cancer syndrome
| Uncertain significance
(Jun 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32930708
- GRCh38:
- Chr13:32356571
| BRCA2 | | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group D1, Hereditary breast ovarian cancer syndrome
| Pathogenic
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32968864
- GRCh38:
- Chr13:32394727
| BRCA2 | N3099D | Hereditary cancer-predisposing syndrome, Wilms tumor 1, Breast-ovarian cancer, familial, susceptibility to, 2,
Glioma susceptibility 3, Medulloblastoma, Malignant tumor of prostate,
Familial cancer of breast, Pancreatic cancer, susceptibility to, 2, Fanconi anemia complementation group D1,
Hereditary breast ovarian cancer syndrome | Uncertain significance
(Sep 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32911088
- GRCh38:
- Chr13:32336951
| BRCA2 | E866K | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2,
Hereditary breast ovarian cancer syndrome | Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32950846
- GRCh38:
- Chr13:32376709
| BRCA2 | T2891R | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome | Uncertain significance
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32936808
- GRCh38:
- Chr13:32362671
| BRCA2 | V2652M | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Wilms tumor 1,
Breast-ovarian cancer, familial, susceptibility to, 2, Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3,
Malignant tumor of prostate, Familial cancer of breast, Fanconi anemia complementation group D1,
Medulloblastoma | Uncertain significance
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32907520
- GRCh38:
- Chr13:32333383
| BRCA2 | D635E | Hereditary cancer-predisposing syndrome, Wilms tumor 1, Breast-ovarian cancer, familial, susceptibility to, 2,
Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3, Malignant tumor of prostate,
Familial cancer of breast, Fanconi anemia complementation group D1, Medulloblastoma,
Hereditary breast ovarian cancer syndrome | Uncertain significance
(Jan 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32931954
- GRCh38:
- Chr13:32357817
| BRCA2 | E2565K | Medulloblastoma, Wilms tumor 1, Pancreatic cancer, susceptibility to, 2,
Glioma susceptibility 3, Fanconi anemia complementation group D1, Familial cancer of breast,
Breast-ovarian cancer, familial, susceptibility to, 2, Malignant tumor of prostate, Hereditary cancer-predisposing syndrome,
not provided, Hereditary breast ovarian cancer syndrome ...see more | Uncertain significance
(Oct 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32914094
- GRCh38:
- Chr13:32339957
| BRCA2 | D1868N | Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2, Hereditary cancer-predisposing syndrome,
Hereditary breast ovarian cancer syndrome | Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32889811
- GRCh38:
- Chr13:32315674
| BRCA2, LOC106721785 | | Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial, susceptibility to, 2, not specified,
Hereditary breast ovarian cancer syndrome, Fanconi anemia complementation group D1 | Conflicting interpretations of pathogenicity
(Sep 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32929094
- GRCh38:
- Chr13:32354957
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Likely benign
(Jun 29, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr13:32972763
- GRCh38:
- Chr13:32398626
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Likely benign
(Jun 29, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr13:32890611
- GRCh38:
- Chr13:32316474
| BRCA2 | E7fs | Breast-ovarian cancer, familial, susceptibility to, 2 | Pathogenic
(Dec 15, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr13:32915022
- GRCh38:
- Chr13:32340885
| BRCA2 | I2177T | Wilms tumor 1, Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2,
Medulloblastoma, Malignant tumor of prostate, Glioma susceptibility 3,
Pancreatic cancer, susceptibility to, 2, Fanconi anemia complementation group D1, Hereditary cancer-predisposing syndrome,
Hereditary breast ovarian cancer syndrome | Uncertain significance
(Sep 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32937325
- GRCh38:
- Chr13:32363188
| BRCA2 | | not specified, Hereditary breast ovarian cancer syndrome, Familial cancer of breast,
Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1, Pancreatic cancer, susceptibility to, 2,
Glioma susceptibility 3, Medulloblastoma, Wilms tumor 1,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome ...see more | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32973761
- GRCh38:
- Chr13:32399624
| BRCA2 | | Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32973746
- GRCh38:
- Chr13:32399609
| BRCA2 | | not provided, Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1
| Likely benign
(Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32973660
- GRCh38:
- Chr13:32399523
| BRCA2 | | Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32973603
- GRCh38:
- Chr13:32399466
| BRCA2 | | Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32973452
- GRCh38:
- Chr13:32399315
| BRCA2 | | Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32973306
- GRCh38:
- Chr13:32399169
| BRCA2 | | Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32973289
- GRCh38:
- Chr13:32399152
| BRCA2 | | Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2 | Likely benign
(Mar 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32973199
- GRCh38:
- Chr13:32399062
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32973155
- GRCh38:
- Chr13:32399018
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32973079
- GRCh38:
- Chr13:32398942
| BRCA2 | | not provided, Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1
| Conflicting interpretations of pathogenicity
(May 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32972957
- GRCh38:
- Chr13:32398820
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32911907
- GRCh38:
- Chr13:32337770
| BRCA2 | K1139Q | Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32900680
- GRCh38:
- Chr13:32326543
| BRCA2 | | Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32889634
- GRCh38:
- Chr13:32315497
| LOC106721785, BRCA2 | | Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr13:32937452
- GRCh38:
- Chr13:32363315
| BRCA2 | S2705G | not specified, not provided, Hereditary breast ovarian cancer syndrome,
Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32944538
- GRCh38:
- Chr13:32370401
| BRCA2 | | Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3, Familial cancer of breast,
Fanconi anemia complementation group D1, Medulloblastoma, Malignant tumor of prostate,
Breast-ovarian cancer, familial, susceptibility to, 2, Wilms tumor 1, Breast-ovarian cancer, familial, susceptibility to, 2
| Pathogenic
(Dec 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32973748
- GRCh38:
- Chr13:32399611
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Benign
(Sep 28, 2016) | reviewed by expert panel |
| - GRCh37:
- Chr13:32973749
- GRCh38:
- Chr13:32399612
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Benign
(Sep 28, 2016) | reviewed by expert panel |
| - GRCh37:
- Chr13:32930592-32930593
- GRCh38:
- Chr13:32356455-32356456
| BRCA2 | D2489* | Breast-ovarian cancer, familial, susceptibility to, 2 | Pathogenic
(Sep 8, 2016) | reviewed by expert panel |
| - GRCh37:
- Chr13:32893475
- GRCh38:
- Chr13:32319338
| BRCA2 | | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Fanconi anemia complementation group D1,
Breast-ovarian cancer, familial, susceptibility to, 2, not specified, not provided
| Conflicting interpretations of pathogenicity
(Dec 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32929024
- GRCh38:
- Chr13:32354887
| BRCA2 | Q2345R | not provided, Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2
| Uncertain significance
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32910897
- GRCh38:
- Chr13:32336760
| BRCA2 | N802S | Malignant tumor of prostate, Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1,
Medulloblastoma, Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3,
Familial cancer of breast, Wilms tumor 1, not provided,
Breast-ovarian cancer, familial, susceptibility to, 2, Hereditary cancer-predisposing syndromeHereditary breast ovarian cancer syndrome,
...see more | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32932042
- GRCh38:
- Chr13:32357905
| BRCA2 | K2594R | Malignant tumor of prostate, Breast-ovarian cancer, familial, susceptibility to, 2, Fanconi anemia complementation group D1,
Medulloblastoma, Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3,
Familial cancer of breast, Wilms tumor 1, not provided,
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome ...see more | Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32913759
- GRCh38:
- Chr13:32339622
| BRCA2 | V1756E | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, not provided,
Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Aug 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32911939
- GRCh38:
- Chr13:32337802
| BRCA2 | M1149I | Breast and/or ovarian cancer, not provided, Hereditary breast ovarian cancer syndrome,
Fanconi anemia complementation group D1, Hereditary cancer-predisposing syndrome, Breast-ovarian cancer, familial, susceptibility to, 2
| Uncertain significance
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32929350
- GRCh38:
- Chr13:32355213
| BRCA2 | I2454F | Hereditary cancer-predisposing syndrome, not provided, Hereditary breast ovarian cancer syndrome,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Medulloblastoma,
Wilms tumor 1, Malignant tumor of prostate, Fanconi anemia complementation group D1,
Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3 ...see more | Uncertain significance
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32900408
- GRCh38:
- Chr13:32326271
| BRCA2 | K169Q | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Wilms tumor 1,
Glioma susceptibility 3, Pancreatic cancer, susceptibility to, 2, Fanconi anemia complementation group D1,
Breast-ovarian cancer, familial, susceptibility to, 2, Familial cancer of breast, Malignant tumor of prostate,
Medulloblastoma | Uncertain significance
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32914839
- GRCh38:
- Chr13:32340702
| BRCA2 | H2116L | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, not provided
| Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32937673
- GRCh38:
- Chr13:32363536
| BRCA2 | | Familial cancer of breast, Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3,
Breast-ovarian cancer, familial, susceptibility to, 2, Medulloblastoma, Fanconi anemia complementation group D1,
Wilms tumor 1, Malignant tumor of prostate, Hereditary cancer-predisposing syndrome,
not specified, Hereditary breast ovarian cancer syndromenot provided,
...see more | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32929410-32929412
- GRCh38:
- Chr13:32355273-32355275
| BRCA2 | E2476del | not specified, not provided, Hereditary cancer-predisposing syndrome,
Hereditary breast ovarian cancer syndrome, Fanconi anemia complementation group D1, Familial cancer of breast,
Breast-ovarian cancer, familial, susceptibility to, 2, Wilms tumor 1, Pancreatic cancer, susceptibility to, 2,
Glioma susceptibility 3, MedulloblastomaMalignant tumor of prostate,
...see more | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32913317
- GRCh38:
- Chr13:32339180
| BRCA2 | T1609A | Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer, not provided,
Hereditary breast ovarian cancer syndrome, Wilms tumor 1, Malignant tumor of prostate,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Medulloblastoma,
Fanconi anemia complementation group D1, Pancreatic cancer, susceptibility to, 2Glioma susceptibility 3,
...see more | Uncertain significance
(Jun 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32912300
- GRCh38:
- Chr13:32338163
| BRCA2 | V1270I | not provided, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group D1,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Wilms tumor 1,
Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3, Medulloblastoma,
Malignant tumor of prostate | Uncertain significance
(Oct 19, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32906889
- GRCh38:
- Chr13:32332752
| BRCA2 | E425G | Hereditary breast ovarian cancer syndrome, Fanconi anemia complementation group D1, Hereditary cancer-predisposing syndrome,
Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32945135
- GRCh38:
- Chr13:32370998
| BRCA2 | E2844K | Hereditary breast ovarian cancer syndrome, Fanconi anemia complementation group D1, Breast-ovarian cancer, familial, susceptibility to, 2,
Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Jun 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32971063
- GRCh38:
- Chr13:32396926
| BRCA2 | E3177G | Fanconi anemia complementation group D1, Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Wilms tumor 1,
Medulloblastoma, Malignant tumor of prostate, Hereditary cancer-predisposing syndrome,
not specified, not providedHereditary breast ovarian cancer syndrome,
...see more | Uncertain significance
(Dec 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32914522
- GRCh38:
- Chr13:32340385
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Likely benign
(Jun 29, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr13:32914756
- GRCh38:
- Chr13:32340619
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Likely benign
(Jun 29, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr13:32913004-32913014
- GRCh38:
- Chr13:32338867-32338877
| BRCA2 | F1506fs | Breast-ovarian cancer, familial, susceptibility to, 2 | Pathogenic
(Sep 8, 2016) | reviewed by expert panel |
| - GRCh37:
- Chr13:32913483
- GRCh38:
- Chr13:32339346
| BRCA2 | I1664T | Fanconi anemia complementation group D1, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
| Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32906524
- GRCh38:
- Chr13:32332387
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Likely benign
(Jun 29, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr13:32913520
- GRCh38:
- Chr13:32339383
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Likely benign
(Jun 29, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr13:32973439
- GRCh38:
- Chr13:32399302
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Benign
(Jan 12, 2015) | reviewed by expert panel |
| - GRCh37:
- Chr13:32973304
- GRCh38:
- Chr13:32399167
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Benign
(Jan 12, 2015) | reviewed by expert panel |
| - GRCh37:
- Chr13:32973297
- GRCh38:
- Chr13:32399160
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Benign
(Jan 12, 2015) | reviewed by expert panel |
| - GRCh37:
- Chr13:32973276
- GRCh38:
- Chr13:32399139
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Benign
(Jan 12, 2015) | reviewed by expert panel |
| - GRCh37:
- Chr13:32973202
- GRCh38:
- Chr13:32399065
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Benign
(Jan 12, 2015) | reviewed by expert panel |
| - GRCh37:
- Chr13:32889792
- GRCh38:
- Chr13:32315655
| BRCA2, LOC106721785 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Benign
(Jan 12, 2015) | reviewed by expert panel |
| - GRCh37:
- Chr13:32889669
- GRCh38:
- Chr13:32315532
| LOC106721785, BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Benign
(Jan 12, 2015) | reviewed by expert panel |
| - GRCh37:
- Chr13:32911987
- GRCh38:
- Chr13:32337850
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Benign
(Jun 29, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr13:32906897
- GRCh38:
- Chr13:32332760
| BRCA2 | L428I | Wilms tumor 1, Pancreatic cancer, susceptibility to, 2, Fanconi anemia complementation group D1,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Glioma susceptibility 3,
Malignant tumor of prostate, Medulloblastoma, Hereditary cancer-predisposing syndrome,
not provided, not specifiedHereditary breast ovarian cancer syndrome,
...see more | Uncertain significance
(Jan 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32910723
- GRCh38:
- Chr13:32336586
| BRCA2 | S744L | Wilms tumor 1, Pancreatic cancer, susceptibility to, 2, Fanconi anemia complementation group D1,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Glioma susceptibility 3,
Malignant tumor of prostate, Medulloblastoma, not provided,
Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome ...see more | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32913403-32913404
- GRCh38:
- Chr13:32339266-32339267
| BRCA2 | V1639fs | Breast-ovarian cancer, familial, susceptibility to, 2 | Pathogenic
(Sep 8, 2016) | reviewed by expert panel |
| - GRCh37:
- Chr13:32913712
- GRCh38:
- Chr13:32339575
| BRCA2 | L1740F | Wilms tumor 1, Pancreatic cancer, susceptibility to, 2, Fanconi anemia complementation group D1,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Glioma susceptibility 3,
Malignant tumor of prostate, Medulloblastoma, Hereditary cancer-predisposing syndrome,
Hereditary breast ovarian cancer syndrome | Uncertain significance
(Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32911989
- GRCh38:
- Chr13:32337852
| BRCA2 | V1166D | Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group D1,
Breast-ovarian cancer, familial, susceptibility to, 2 | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32915187
- GRCh38:
- Chr13:32341050
| BRCA2 | K2232I | Wilms tumor 1, Pancreatic cancer, susceptibility to, 2, Fanconi anemia complementation group D1,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Glioma susceptibility 3,
Malignant tumor of prostate, Medulloblastoma, Hereditary cancer-predisposing syndrome,
Hereditary breast ovarian cancer syndrome | Uncertain significance
(Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:32913517
- GRCh38:
- Chr13:32339380
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Likely benign
(Jun 29, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr13:32911018
- GRCh38:
- Chr13:32336881
| BRCA2 | | Breast-ovarian cancer, familial, susceptibility to, 2 | Likely benign
(Jun 29, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr13:32953981-32953986
- GRCh38:
- Chr13:32379844-32379849
| BRCA2 | | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group D1, Wilms tumor 1,
Familial cancer of breast, Breast-ovarian cancer, familial, susceptibility to, 2, Medulloblastoma,
Malignant tumor of prostate, Pancreatic cancer, susceptibility to, 2, Glioma susceptibility 3,
not specified, not providedHereditary breast ovarian cancer syndrome,
Breast-ovarian cancer, familial, susceptibility to, 2, ...see more | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:32893462
- GRCh38:
- Chr13:32319325
| BRCA2 | G106R | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, not specified,
Fanconi anemia complementation group D1 | Conflicting interpretations of pathogenicity
(Oct 5, 2021) | criteria provided, conflicting interpretations |