ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.33T>C (p.Gly11=)

dbSNP: rs759187663
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562054 SCV000661483 likely benign Hereditary cancer-predisposing syndrome 2016-01-22 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 RCV000562054 SCV000689377 likely benign Hereditary cancer-predisposing syndrome 2016-10-07 criteria provided, single submitter clinical testing
GeneDx RCV000603612 SCV000716229 likely benign not specified 2017-02-16 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 RCV000924612 SCV001070129 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-11-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284462 SCV001470270 likely benign not provided 2019-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001284462 SCV004145823 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing BRIP1: BP4, BP7
Myriad Genetics, Inc. RCV004791578 SCV005406654 benign Familial cancer of breast 2024-08-08 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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