Submissions for variant NM_032043.3(BRIP1):c.2274A>G (p.Val758=)

dbSNP: rs786201526

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163814	SCV000214398	likely benign	Hereditary cancer-predisposing syndrome	2014-12-08	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	RCV000604651	SCV000721811	likely benign	not specified	2017-08-02	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.
Color Diagnostics, LLC DBA Color Health	RCV000163814	SCV001355357	likely benign	Hereditary cancer-predisposing syndrome	2020-04-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001482093	SCV001686453	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2025-01-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004786451	SCV005403866	benign	Familial cancer of breast	2024-09-04	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.