ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) (rs1799944)

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Total submissions: 26
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034436 SCV000602762 benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130999 SCV000185923 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Baylor Genetics RCV000471695 SCV000541030 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034436 SCV000043204 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113122 SCV000146152 not provided Breast-ovarian cancer, familial 2 no assertion provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120317 SCV000586938 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV000768558 SCV000899229 benign Breast carcinoma 2019-04-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034436 SCV000511281 benign not provided 2016-07-22 criteria provided, single submitter clinical testing
Color RCV000130999 SCV000292097 benign Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing
Counsyl RCV000113122 SCV000154057 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 3.7 %.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113122 SCV000744434 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113122 SCV000733243 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120317 SCV000202282 benign not specified 2016-05-09 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113122 SCV000245025 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1049 (Asian), 0.03049 (African), 0.03694 (European), derived from 1000 genomes (2012-04-30).
Fulgent Genetics,Fulgent Genetics RCV000113122 SCV000575744 benign Breast-ovarian cancer, familial 2 2015-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000120317 SCV000167351 benign not specified 2013-09-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
GeneKor MSA RCV000120317 SCV000693634 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113122 SCV000743280 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120317 SCV000084469 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000320859 SCV000383667 benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377822 SCV000383668 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000320859 SCV000494357 benign Hereditary breast and ovarian cancer syndrome 2014-01-13 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034436 SCV000778659 benign not provided 2017-03-06 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113122 SCV000195973 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120317 SCV000301760 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113122 SCV000189302 benign Breast-ovarian cancer, familial 2 2011-03-15 no assertion criteria provided clinical testing

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