ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=)

gnomAD frequency: 0.00001  dbSNP: rs779075029
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495154 SCV000578842 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Labcorp Genetics (formerly Invitae), Labcorp RCV001078719 SCV000635130 likely benign Hereditary breast ovarian cancer syndrome 2025-01-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581832 SCV000688687 likely benign Hereditary cancer-predisposing syndrome 2016-07-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000535852 SCV001133665 likely benign not provided 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581832 SCV002611899 likely benign Hereditary cancer-predisposing syndrome 2019-09-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002496886 SCV002804603 likely benign Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 2022-04-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000495154 SCV004846265 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-08-15 criteria provided, single submitter clinical testing

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