ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2751T>C (p.Ser917=)

gnomAD frequency: 0.00002  dbSNP: rs150780318
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216174 SCV000275966 likely benign Hereditary cancer-predisposing syndrome 2015-05-31 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.
GeneDx RCV000444871 SCV000531187 likely benign not specified 2018-01-09 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.
Color Diagnostics, LLC DBA Color Health RCV000216174 SCV000911527 likely benign Hereditary cancer-predisposing syndrome 2017-10-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000444871 SCV000919057 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000917930 SCV001063224 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-12-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004791340 SCV005406384 benign Familial cancer of breast 2024-09-05 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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