ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2427T>C (p.Gly809=)

gnomAD frequency: 0.00001  dbSNP: rs754927538
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565323 SCV000661544 likely benign Hereditary cancer-predisposing syndrome 2016-07-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000915112 SCV001060307 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2025-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000565323 SCV001348314 likely benign Hereditary cancer-predisposing syndrome 2018-10-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001779009 SCV002014854 likely benign not specified 2021-10-10 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004787905 SCV005406985 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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