Submissions for variant NM_032043.3(BRIP1):c.240T>G (p.Ala80=)

dbSNP: rs745422385

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420174	SCV000535544	likely benign	not specified	2016-12-23	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.
Ambry Genetics	RCV000563017	SCV000668916	likely benign	Hereditary cancer-predisposing syndrome	2017-09-06	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	RCV000563017	SCV000910011	likely benign	Hereditary cancer-predisposing syndrome	2017-12-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001411770	SCV001613836	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2023-12-27	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004786716	SCV005406196	benign	Familial cancer of breast	2024-08-09	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.
PreventionGenetics, part of Exact Sciences	RCV004732883	SCV005364776	likely benign	BRIP1-related disorder	2024-05-05	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).