Submissions for variant NM_007294.4(BRCA1):c.4962G>A (p.Val1654=)

dbSNP: rs549640262

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000495430	SCV000578442	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/).
Color Diagnostics, LLC DBA Color Health	RCV001191302	SCV001359060	likely benign	Hereditary cancer-predisposing syndrome	2018-09-27	criteria provided, single submitter	clinical testing
Invitae	RCV001490348	SCV001694909	likely benign	Hereditary breast ovarian cancer syndrome	2024-01-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821411	SCV002070389	likely benign	not specified	2020-08-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001191302	SCV002645758	likely benign	Hereditary cancer-predisposing syndrome	2020-09-16	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.
Brotman Baty Institute, University of Washington	RCV000495430	SCV001238720	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro