Submissions for variant NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)

gnomAD frequency: 0.00001  dbSNP: rs762458631

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)	RCV000494762	SCV000579027	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	RCV000197263	SCV000253021	likely benign	Hereditary breast ovarian cancer syndrome	2023-11-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001722106	SCV000518466	likely benign	not provided	2020-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000565599	SCV000664992	likely benign	Hereditary cancer-predisposing syndrome	2015-12-15	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	RCV000565599	SCV000683665	likely benign	Hereditary cancer-predisposing syndrome	2017-03-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000440938	SCV000917013	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798665	SCV002043104	likely benign	Breast and/or ovarian cancer	2019-09-11	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001722106	SCV002047312	benign	not provided	2022-10-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002503776	SCV002807577	likely benign	Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3	2021-09-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530183	SCV004726447	likely benign	BRCA2-related disorder	2019-07-30	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).