Submissions for variant NM_000059.4(BRCA2):c.9918C>A (p.Thr3306=)

gnomAD frequency: 0.00002  dbSNP: rs562881210

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)	RCV000495663	SCV000579198	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	RCV000199121	SCV000253065	likely benign	Hereditary breast ovarian cancer syndrome	2024-11-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001284603	SCV000521444	likely benign	not provided	2019-02-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000565035	SCV000661166	likely benign	Hereditary cancer-predisposing syndrome	2016-04-22	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	RCV000565035	SCV000689234	likely benign	Hereditary cancer-predisposing syndrome	2017-08-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000423072	SCV000695280	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284603	SCV001470472	likely benign	not provided	2019-12-02	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000423072	SCV004027496	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000495663	SCV004846248	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2023-02-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541273	SCV004757934	likely benign	BRCA2-related disorder	2023-04-05	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).