Submissions for variant NM_000059.4(BRCA2):c.3615T>C (p.Ser1205=)

dbSNP: rs769677997

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)	RCV000495540	SCV000578820	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/).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000543138	SCV000635293	likely benign	Hereditary breast ovarian cancer syndrome	2024-11-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000569761	SCV000668794	likely benign	Hereditary cancer-predisposing syndrome	2017-05-15	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.
Color Diagnostics, LLC DBA Color Health	RCV000569761	SCV002053224	likely benign	Hereditary cancer-predisposing syndrome	2021-04-15	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002268128	SCV002550324	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004802090	SCV005424389	likely benign	BRCA2-related cancer predisposition	2024-04-25	criteria provided, single submitter	clinical testing