Submissions for variant NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)

gnomAD frequency: 0.00868  dbSNP: rs11571707

Total submissions: 40

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000082973	SCV000321179	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2016-09-28	reviewed by expert panel	curation	Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1066 (Admixed American/Latino), derived from 1000 genomes (2013-05-02).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000119156	SCV000153876	benign	Hereditary breast ovarian cancer syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000082973	SCV000154062	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2014-01-02	criteria provided, single submitter	literature only
Ambry Genetics	RCV000132404	SCV000187496	benign	Hereditary cancer-predisposing syndrome	2014-11-19	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.
Michigan Medical Genetics Laboratories, University of Michigan	RCV000082973	SCV000196005	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2014-11-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768635	SCV000219395	benign	Breast and/or ovarian cancer	2016-11-11	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000120360	SCV000226198	benign	not specified	2015-01-21	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000119156	SCV000257619	benign	Hereditary breast ovarian cancer syndrome	2015-02-05	criteria provided, single submitter	clinical testing
Vantari Genetics	RCV000132404	SCV000267023	benign	Hereditary cancer-predisposing syndrome	2015-12-01	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224946	SCV000281582	benign	not provided	2016-05-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000120360	SCV000301775	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000082973	SCV000383768	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2018-01-29	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center	RCV000413233	SCV000492485	uncertain significance	Breast neoplasm		criteria provided, single submitter	research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000119156	SCV000494361	benign	Hereditary breast ovarian cancer syndrome	2014-01-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000132404	SCV000537396	benign	Hereditary cancer-predisposing syndrome	2014-11-18	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000456149	SCV000541054	benign	Familial cancer of breast	2017-02-23	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002477244	SCV000575735	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	2022-05-09	criteria provided, single submitter	clinical testing
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency	RCV000120360	SCV000586974	benign	not specified	2017-04-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000224946	SCV000602783	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000082973	SCV000743333	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2015-03-29	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000082973	SCV000744519	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2015-09-21	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV000119156	SCV002025819	benign	Hereditary breast ovarian cancer syndrome	2021-11-16	criteria provided, single submitter	clinical testing
Genetics Program, Instituto Nacional de Cancer	RCV000119156	SCV002515146	benign	Hereditary breast ovarian cancer syndrome	2021-11-01	criteria provided, single submitter	research
Sema4, Sema4	RCV000132404	SCV002531858	benign	Hereditary cancer-predisposing syndrome	2020-06-25	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000120360	SCV002551513	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000082973	SCV004016872	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000082973	SCV004844411	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000224946	SCV005236529	benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000120360	SCV000084512	not provided	not specified	2013-09-19	no assertion provided	reference population
Sharing Clinical Reports Project (SCRP)	RCV000082973	SCV000115047	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2012-10-04	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000082973	SCV000147099	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2002-05-29	no assertion criteria provided	clinical testing
Pathway Genomics	RCV000082973	SCV000187730	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2014-07-24	no assertion criteria provided	literature only
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000120360	SCV000592113	benign	not specified		no assertion criteria provided	clinical testing	Han_2006 Rodriguez_2008 Capanu_2011 Akbari_2008 Biswas_2011 Reid_2005 Weitzel_2005; Offit_2003 Caux-Moncoutier_2009 Baumbach Kim_2006
Mayo Clinic Laboratories, Mayo Clinic	RCV000224946	SCV000778710	benign	not provided	2016-12-12	no assertion criteria provided	clinical testing
True Health Diagnostics	RCV000132404	SCV000787949	benign	Hereditary cancer-predisposing syndrome	2018-01-24	no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000120360	SCV001906128	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000120360	SCV001952021	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224946	SCV002036311	likely benign	not provided		no assertion criteria provided	clinical testing
Center for Precision Medicine, Meizhou People's Hospital	RCV000456149	SCV002520830	likely benign	Familial cancer of breast		no assertion criteria provided	literature only
BRCAlab, Lund University	RCV000082973	SCV004243765	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2020-03-02	no assertion criteria provided	clinical testing