Submissions for variant NM_032043.3(BRIP1):c.267A>G (p.Ala89=)

dbSNP: rs764027029

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001448703	SCV001651802	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2024-01-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429135	SCV002743915	likely benign	Hereditary cancer-predisposing syndrome	2020-07-17	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	RCV002429135	SCV004360303	likely benign	Hereditary cancer-predisposing syndrome	2022-08-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004786628	SCV005406733	benign	Familial cancer of breast	2024-08-12	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.