ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)

gnomAD frequency: 0.00097  dbSNP: rs11571655
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Total submissions: 31
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113110 SCV000578002 benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0012 (Non-Finnish European), derived from ExAC (2014-12-17).
Labcorp Genetics (formerly Invitae), Labcorp RCV000044081 SCV000072094 benign Hereditary breast ovarian cancer syndrome 2024-02-01 criteria provided, single submitter clinical testing
Counsyl RCV000113110 SCV000154077 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-02-27 criteria provided, single submitter literature only
Michigan Medical Genetics Laboratories, University of Michigan RCV000113110 SCV000195971 benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162529 SCV000212926 likely benign Hereditary cancer-predisposing syndrome 2014-07-17 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768591 SCV000219319 likely benign Breast and/or ovarian cancer 2023-06-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000168559 SCV000225185 likely benign not specified 2014-05-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000113110 SCV000383661 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2018-05-31 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000369425 SCV000383662 likely benign Fanconi anemia complementation group D1 2018-05-31 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000044081 SCV000494371 benign Hereditary breast ovarian cancer syndrome 2014-02-27 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000044081 SCV000576434 likely benign Hereditary breast ovarian cancer syndrome 2017-02-14 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine, Queen's University RCV000168559 SCV000588086 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000168559 SCV000593708 likely benign not specified 2017-03-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000585112 SCV000602848 benign not provided 2022-05-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162529 SCV000683507 benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585112 SCV000692769 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing BRCA2: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000113110 SCV000743277 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000113110 SCV000744432 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000585112 SCV000805678 likely benign not provided 2017-04-28 criteria provided, single submitter clinical testing
Mendelics RCV000113110 SCV001139046 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000585112 SCV002010723 benign not provided 2021-11-03 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV000044081 SCV002026083 likely benign Hereditary breast ovarian cancer syndrome 2021-11-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162529 SCV002533742 likely benign Hereditary cancer-predisposing syndrome 2021-02-19 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000168559 SCV002550313 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113110 SCV000146136 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2002-05-29 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113110 SCV000189301 benign Breast-ovarian cancer, familial, susceptibility to, 2 2011-03-09 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000168559 SCV000591832 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000113110 SCV000733242 benign Breast-ovarian cancer, familial, susceptibility to, 2 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000168559 SCV001800799 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000168559 SCV001906106 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000168559 SCV001955916 benign not specified no assertion criteria provided clinical testing

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