Submissions for variant NM_032043.3(BRIP1):c.1071A>G (p.Glu357=)

gnomAD frequency: 0.00001  dbSNP: rs761017296

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162831	SCV000213317	likely benign	Hereditary cancer-predisposing syndrome	2015-12-09	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	RCV000228755	SCV000290969	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2023-12-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162831	SCV000689242	likely benign	Hereditary cancer-predisposing syndrome	2016-02-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001528003	SCV001739160	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149995	SCV003838378	likely benign	Breast and/or ovarian cancer	2022-01-18	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004791287	SCV005406540	benign	Familial cancer of breast	2024-08-23	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.