Submissions for variant NM_032043.3(BRIP1):c.852C>T (p.Val284=)

gnomAD frequency: 0.00021  dbSNP: rs144940449

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212304	SCV000210855	benign	not specified	2014-07-01	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	RCV000160349	SCV000214401	likely benign	Hereditary cancer-predisposing syndrome	2014-07-31	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	RCV001085191	SCV000259993	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2025-01-20	criteria provided, single submitter	clinical testing
Counsyl	RCV000410903	SCV000489865	likely benign	Fanconi anemia complementation group J	2016-08-29	criteria provided, single submitter	clinical testing
Counsyl	RCV000411984	SCV000489866	likely benign	Ovarian neoplasm	2016-08-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000160349	SCV000684308	likely benign	Hereditary cancer-predisposing syndrome	2016-04-22	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759717	SCV000889227	likely benign	not provided	2018-08-20	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000160349	SCV002529240	likely benign	Hereditary cancer-predisposing syndrome	2021-09-16	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV003315956	SCV004019351	benign	Familial cancer of breast	2023-02-28	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000759717	SCV005211181	likely benign	not provided		criteria provided, single submitter	not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000212304	SCV005727226	likely benign	not specified	2024-11-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535040	SCV004748874	likely benign	BRIP1-related disorder	2019-06-14	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).