Submissions for variant NM_000059.4(BRCA2):c.7008-62A>G

gnomAD frequency: 0.00439  dbSNP: rs76584943

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000113690	SCV001161615	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2019-06-18	reviewed by expert panel	curation	IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 8.83E-264
Labcorp Genetics (formerly Invitae), Labcorp	RCV000045119	SCV000073132	benign	Hereditary breast ovarian cancer syndrome	2023-11-14	criteria provided, single submitter	clinical testing
Counsyl	RCV000113690	SCV000154103	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2014-04-12	criteria provided, single submitter	literature only
Pathway Genomics	RCV000113690	SCV000223771	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2014-10-30	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000045119	SCV000257616	uncertain significance	Hereditary breast ovarian cancer syndrome	2015-02-16	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000500825	SCV000592090	likely benign	not specified		criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000500825	SCV000593728	benign	not specified	2017-10-26	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000579764	SCV000683842	benign	Hereditary cancer-predisposing syndrome	2014-12-05	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000500825	SCV000706892	benign	not specified	2017-03-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000113690	SCV000743327	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2014-10-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679183	SCV000805754	likely benign	not provided	2016-05-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000679183	SCV000892066	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	BRCA2: BS2
Mendelics	RCV000113690	SCV001139168	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000679183	SCV001472269	benign	not provided	2021-08-06	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV000045119	SCV002025808	benign	Hereditary breast ovarian cancer syndrome	2021-11-16	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000579764	SCV002536293	benign	Hereditary cancer-predisposing syndrome	2020-06-10	criteria provided, single submitter	curation
Ambry Genetics	RCV000579764	SCV002661955	benign	Hereditary cancer-predisposing syndrome	2017-01-27	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics	RCV002496695	SCV002794821	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	2022-03-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000679183	SCV005236522	benign	not provided		criteria provided, single submitter	not provided
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113690	SCV000146999	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2010-12-17	no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000500825	SCV001906435	benign	not specified		no assertion criteria provided	clinical testing