ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1923T>C (p.Ser641=)

dbSNP: rs1057522492
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436513 SCV000528075 likely benign not specified 2016-05-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000637844 SCV000759323 likely benign Hereditary breast ovarian cancer syndrome 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013711 SCV001174332 likely benign Hereditary cancer-predisposing syndrome 2018-02-11 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000436513 SCV001821418 likely benign not specified 2021-08-29 criteria provided, single submitter clinical testing

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