Submissions for variant NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly)

gnomAD frequency: 0.00005  dbSNP: rs80357501

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164694	SCV000215361	benign	Hereditary cancer-predisposing syndrome	2014-06-02	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV000484207	SCV000564747	likely benign	not specified	2017-07-06	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.
Color Diagnostics, LLC DBA Color Health	RCV000164694	SCV000903165	benign	Hereditary cancer-predisposing syndrome	2017-05-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311125	SCV001501174	likely benign	not provided	2020-10-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001487028	SCV001691511	likely benign	Hereditary breast ovarian cancer syndrome	2024-12-24	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001311125	SCV002009426	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001311125	SCV002046152	likely benign	not provided	2023-02-21	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000164694	SCV002537820	likely benign	Hereditary cancer-predisposing syndrome	2021-03-24	criteria provided, single submitter	curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003492392	SCV004240278	likely benign	Breast and/or ovarian cancer	2023-02-22	criteria provided, single submitter	clinical testing
Sharing Clinical Reports Project (SCRP)	RCV000083218	SCV000115292	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2012-05-01	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000083218	SCV000145371	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1	2002-06-20	no assertion criteria provided	clinical testing
Brotman Baty Institute, University of Washington	RCV000083218	SCV001237813	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro