ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.753C>T (p.Arg251=)

gnomAD frequency: 0.00001  dbSNP: rs876659416
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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 RCV000217375 SCV000275849 likely benign Hereditary cancer-predisposing syndrome 2015-05-18 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 RCV000863471 SCV000532950 likely benign not provided 2021-02-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19101574)
Color Diagnostics, LLC DBA Color Health RCV000217375 SCV000904778 likely benign Hereditary cancer-predisposing syndrome 2017-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001505300 SCV001710192 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2023-08-25 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004786586 SCV005404101 benign Familial cancer of breast 2024-08-22 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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