Submissions for variant NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=)

gnomAD frequency: 0.00003  dbSNP: rs556762256

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000410727	SCV000578761	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/).
Ambry Genetics	RCV000163941	SCV000214537	likely benign	Hereditary cancer-predisposing syndrome	2014-11-20	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.
Invitae	RCV000200006	SCV000253051	benign	Hereditary breast ovarian cancer syndrome	2024-01-24	criteria provided, single submitter	clinical testing
Counsyl	RCV000410727	SCV000489662	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2016-11-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163941	SCV000683992	likely benign	Hereditary cancer-predisposing syndrome	2016-12-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588872	SCV000695175	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000410727	SCV000743350	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2016-06-27	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000410727	SCV000744546	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2015-09-21	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284589	SCV001470452	likely benign	not provided	2020-02-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001284589	SCV001502174	likely benign	not provided	2020-09-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001284589	SCV001875356	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28324225)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003491888	SCV004240370	likely benign	Breast and/or ovarian cancer	2022-08-26	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000410727	SCV004846056	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2023-12-01	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000588872	SCV005090066	likely benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001284589	SCV001906391	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001284589	SCV001958030	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001284589	SCV002036388	likely benign	not provided		no assertion criteria provided	clinical testing