Submissions for variant NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=)

gnomAD frequency: 0.00025  dbSNP: rs369047997

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000210972	SCV000578860	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	RCV000759696	SCV000210694	likely benign	not provided	2020-09-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23451180, 25451944)
Ambry Genetics	RCV000163043	SCV000213534	likely benign	Hereditary cancer-predisposing syndrome	2015-11-02	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	RCV001085841	SCV000253064	benign	Hereditary breast ovarian cancer syndrome	2025-01-28	criteria provided, single submitter	clinical testing
Michigan Medical Genetics Laboratories, University of Michigan	RCV000210972	SCV000267834	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2016-04-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163043	SCV000684097	likely benign	Hereditary cancer-predisposing syndrome	2016-06-16	criteria provided, single submitter	clinical testing
Counsyl	RCV000210972	SCV000784863	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2017-01-18	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759696	SCV000889194	likely benign	not provided	2022-09-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000759696	SCV001473646	likely benign	not provided	2019-10-14	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163043	SCV002532068	likely benign	Hereditary cancer-predisposing syndrome	2022-03-01	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002498795	SCV002799479	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	2022-05-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149972	SCV003838846	likely benign	Breast and/or ovarian cancer	2021-06-15	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000210972	SCV004016883	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2023-07-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV004596078	SCV005090078	likely benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing