Submissions for variant NM_007294.4(BRCA1):c.2217A>G (p.Lys739=)

gnomAD frequency: 0.00002  dbSNP: rs200521980

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000495290	SCV000578167	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	RCV000572103	SCV000668494	likely benign	Hereditary cancer-predisposing syndrome	2017-06-09	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.
Color Diagnostics, LLC DBA Color Health	RCV000572103	SCV000683020	likely benign	Hereditary cancer-predisposing syndrome	2016-10-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000466094	SCV000717752	likely benign	not provided	2019-12-03	criteria provided, single submitter	clinical testing
Invitae	RCV001497945	SCV001702684	likely benign	Hereditary breast ovarian cancer syndrome	2024-01-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000572103	SCV002538103	likely benign	Hereditary cancer-predisposing syndrome	2020-05-06	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003493587	SCV004242835	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing