ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.186A>G (p.Ala62=)

dbSNP: rs764252214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213249 SCV000276930 likely benign Hereditary cancer-predisposing syndrome 2015-07-01 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 RCV000213249 SCV000910012 likely benign Hereditary cancer-predisposing syndrome 2018-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000842702 SCV000984732 likely benign not provided 2018-04-30 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.
Invitae RCV001426077 SCV001628722 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-01-14 criteria provided, single submitter clinical testing

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