Submissions for variant NM_007294.4(BRCA1):c.5157G>T (p.Val1719=)

gnomAD frequency: 0.00004  dbSNP: rs28897697

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000412133	SCV000578291	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	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/).
Ambry Genetics	RCV000163249	SCV000213776	likely benign	Hereditary cancer-predisposing syndrome	2014-11-20	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.
Invitae	RCV001080088	SCV000253511	likely benign	Hereditary breast ovarian cancer syndrome	2023-12-13	criteria provided, single submitter	clinical testing
Counsyl	RCV000412133	SCV000488667	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2016-05-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163249	SCV000683266	likely benign	Hereditary cancer-predisposing syndrome	2017-05-09	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759554	SCV000888938	likely benign	not provided	2023-07-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000508671	SCV000916784	likely benign	not specified	2019-07-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000508671	SCV001156852	likely benign	not specified	2018-11-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000759554	SCV001757871	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30209399)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149998	SCV003838893	likely benign	Breast and/or ovarian cancer	2022-09-29	criteria provided, single submitter	clinical testing
Brotman Baty Institute, University of Washington	RCV000412133	SCV001241807	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro