ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9375C>G (p.Leu3125=)

dbSNP: rs276174924
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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) RCV000114099 SCV000578530 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/).
Color Diagnostics, LLC DBA Color Health RCV000581482 SCV000689193 likely benign Hereditary cancer-predisposing syndrome 2017-08-09 criteria provided, single submitter clinical testing
Mendelics RCV000114099 SCV001139260 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001500034 SCV001704811 likely benign Hereditary breast ovarian cancer syndrome 2021-10-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000581482 SCV002532025 likely benign Hereditary cancer-predisposing syndrome 2021-11-01 criteria provided, single submitter curation
Ambry Genetics RCV000581482 SCV004005518 likely benign Hereditary cancer-predisposing syndrome 2023-05-14 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000114099 SCV000147622 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2007-01-12 no assertion criteria provided clinical testing

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