ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3081G>A (p.Glu1027=)

dbSNP: rs777660106
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581744 SCV000689368 likely benign Hereditary cancer-predisposing syndrome 2017-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581744 SCV001179779 likely benign Hereditary cancer-predisposing syndrome 2017-12-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001482487 SCV001686861 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-12-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000581744 SCV002533674 likely benign Hereditary cancer-predisposing syndrome 2021-09-16 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV004787988 SCV005405736 benign Familial cancer of breast 2024-09-09 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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