Submissions for variant NM_000059.4(BRCA2):c.5976A>G (p.Ser1992=)

dbSNP: rs748854546

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000211041	SCV000578698	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2017-06-29	reviewed by expert panel	curation	Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Michigan Medical Genetics Laboratories, University of Michigan	RCV000211041	SCV000267790	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2016-04-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000563624	SCV000665112	likely benign	Hereditary cancer-predisposing syndrome	2015-02-18	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	RCV001078659	SCV000759343	likely benign	Hereditary breast ovarian cancer syndrome	2024-01-23	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000758914	SCV000887859	benign	not provided	2018-04-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000563624	SCV000906122	likely benign	Hereditary cancer-predisposing syndrome	2017-11-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000758914	SCV000982792	likely benign	not provided	2020-11-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20683152, 22684231, 28814288)
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)	RCV000211041	SCV002318943	benign	Breast-ovarian cancer, familial, susceptibility to, 2		criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000211041	SCV004016900	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000211041	SCV004846678	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2023-11-20	criteria provided, single submitter	clinical testing
BRCAlab, Lund University	RCV000211041	SCV004243696	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2020-03-02	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004732789	SCV005354169	likely benign	BRCA2-related disorder	2024-09-27	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).