ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7992T>C (p.Ile2664=)

dbSNP: rs80359800
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Total submissions: 8
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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) RCV000113852 SCV000578628 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/).
GeneDx RCV000418630 SCV000512390 likely benign not specified 2017-08-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000565087 SCV000665032 likely benign Hereditary cancer-predisposing syndrome 2015-08-27 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.
Color Diagnostics, LLC DBA Color Health RCV000565087 SCV001340331 likely benign Hereditary cancer-predisposing syndrome 2018-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001486407 SCV001690863 likely benign Hereditary breast ovarian cancer syndrome 2025-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565087 SCV002531899 likely benign Hereditary cancer-predisposing syndrome 2021-05-10 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003476931 SCV004220581 likely benign not provided 2023-01-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113852 SCV000147243 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2007-01-18 no assertion criteria provided clinical testing

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