Submissions for variant NM_000059.4(BRCA2):c.750G>A (p.Val250=)

gnomAD frequency: 0.00005  dbSNP: rs143214959

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000144219	SCV000578875	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/).
Invitae	RCV001082953	SCV000166186	benign	Hereditary breast ovarian cancer syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000123940	SCV000167327	benign	not specified	2013-09-03	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	RCV000162788	SCV000213266	likely benign	Hereditary cancer-predisposing syndrome	2014-11-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Michigan Medical Genetics Laboratories, University of Michigan	RCV000144219	SCV000267740	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2016-04-21	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000590515	SCV000600751	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162788	SCV000683881	benign	Hereditary cancer-predisposing syndrome	2016-06-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000123940	SCV000695073	likely benign	not specified	2021-01-29	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000162788	SCV002531866	likely benign	Hereditary cancer-predisposing syndrome	2020-09-16	criteria provided, single submitter	curation
Genetics and Molecular Pathology, SA Pathology	RCV000144219	SCV002556842	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2020-05-18	criteria provided, single submitter	clinical testing	The BRCA2 c.750G>A variant is classified as Likely Benign (BP2, BP6)
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000123940	SCV004242738	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965035	SCV004788948	likely benign	BRCA2-related condition	2020-03-09	criteria provided, single submitter	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).
Sharing Clinical Reports Project (SCRP)	RCV000144219	SCV000189316	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2011-03-01	no assertion criteria provided	clinical testing
Department of Medical Genetics, University Hospital of North Norway	RCV000144219	SCV000301444	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2016-05-01	no assertion criteria provided	clinical testing
King Laboratory, University of Washington	RCV000123940	SCV001251295	benign	not specified	2019-09-01	no assertion criteria provided	research