Submissions for variant NM_032043.3(BRIP1):c.1890A>G (p.Thr630=)

gnomAD frequency: 0.00015  dbSNP: rs145796331

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000165296	SCV000216015	likely benign	Hereditary cancer-predisposing syndrome	2014-08-05	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	RCV001085116	SCV000253621	benign	Familial cancer of breast; Fanconi anemia complementation group J	2025-01-27	criteria provided, single submitter	clinical testing
Counsyl	RCV000412282	SCV000490061	likely benign	Fanconi anemia complementation group J	2016-10-26	criteria provided, single submitter	clinical testing
Counsyl	RCV000409844	SCV000490062	likely benign	Ovarian neoplasm	2016-10-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000759701	SCV000512421	likely benign	not provided	2021-10-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000442269	SCV000593770	likely benign	not specified	2017-05-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000165296	SCV000684165	likely benign	Hereditary cancer-predisposing syndrome	2016-06-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759701	SCV000889200	benign	not provided	2018-06-20	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000442269	SCV000917066	likely benign	not specified	2019-08-10	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003316040	SCV004019365	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.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000165296	SCV001950169	likely benign	Hereditary cancer-predisposing syndrome	2021-09-15	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535109	SCV004719432	likely benign	BRIP1-related disorder	2019-08-09	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).