Submissions for variant NM_000059.4(BRCA2):c.3054G>A (p.Lys1018=)

gnomAD frequency: 0.00009  dbSNP: rs368404583

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)	RCV000495515	SCV000578823	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/).
GeneDx	RCV000123960	SCV000167352	benign	not specified	2014-02-26	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	RCV000164199	SCV000214820	likely benign	Hereditary cancer-predisposing syndrome	2015-02-26	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	RCV001080053	SCV000283203	likely benign	Hereditary breast ovarian cancer syndrome	2025-01-26	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000462651	SCV000541072	benign	Familial cancer of breast	2017-02-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679166	SCV000805683	likely benign	not provided	2017-10-20	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000679166	SCV000889014	likely benign	not provided	2022-09-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000123960	SCV000918961	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000164199	SCV001354156	likely benign	Hereditary cancer-predisposing syndrome	2016-04-21	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000164199	SCV002533757	likely benign	Hereditary cancer-predisposing syndrome	2021-06-16	criteria provided, single submitter	curation