ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1332C>T (p.Ser444=)

gnomAD frequency: 0.00001  dbSNP: rs200581792
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540476 SCV000633551 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570764 SCV000666264 likely benign Hereditary cancer-predisposing syndrome 2017-06-13 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 RCV000570764 SCV001349804 likely benign Hereditary cancer-predisposing syndrome 2018-11-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004787863 SCV005407051 benign Familial cancer of breast 2024-08-27 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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