Submissions for variant NM_007294.4(BRCA1):c.1419C>T (p.Asn473=)

gnomAD frequency: 0.00004  dbSNP: rs777228325

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000241043	SCV000578426	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	RCV000165155	SCV000215866	likely benign	Hereditary cancer-predisposing syndrome	2014-07-07	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	RCV000229396	SCV000289744	likely benign	Hereditary breast ovarian cancer syndrome	2024-12-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000587123	SCV000698864	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
Counsyl	RCV000241043	SCV000785261	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2017-06-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000165155	SCV000909383	likely benign	Hereditary cancer-predisposing syndrome	2018-02-23	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284533	SCV001470372	likely benign	not provided	2020-09-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001284533	SCV001945235	benign	not provided	2015-07-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004804742	SCV005428616	likely benign	BRCA1-related cancer predisposition	2024-03-05	criteria provided, single submitter	clinical testing
Department of Medical Genetics, University Hospital of North Norway	RCV000241043	SCV000301430	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1	2016-05-01	no assertion criteria provided	clinical testing