Submissions for variant NM_032043.3(BRIP1):c.1695A>C (p.Ser565=)

gnomAD frequency: 0.00004  dbSNP: rs142572387

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162605	SCV000213031	likely benign	Hereditary cancer-predisposing syndrome	2015-01-21	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	RCV000229541	SCV000290984	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2024-09-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000427139	SCV000527882	likely benign	not specified	2016-05-12	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	RCV000162605	SCV000689280	likely benign	Hereditary cancer-predisposing syndrome	2016-01-14	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000162605	SCV002531373	likely benign	Hereditary cancer-predisposing syndrome	2022-03-18	criteria provided, single submitter	curation
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000162605	SCV004228111	likely benign	Hereditary cancer-predisposing syndrome	2023-09-05	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004786438	SCV005403227	benign	Familial cancer of breast	2024-08-29	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.
PreventionGenetics, part of Exact Sciences	RCV004544478	SCV004771385	likely benign	BRIP1-related disorder	2019-12-02	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).