ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) (rs1799944)

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Total submissions: 27
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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) 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).
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 %.
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.
Ambry Genetics RCV000130999 SCV000185923 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Michigan Medical Genetics Laboratories,University of Michigan RCV000113122 SCV000195973 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120317 SCV000202282 benign not specified 2016-05-09 criteria provided, single submitter clinical testing
Color RCV000130999 SCV000292097 benign Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120317 SCV000301760 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000113122 SCV000383667 benign Breast-ovarian cancer, familial 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000377822 SCV000383668 benign Fanconi anemia, complementation group D1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Integrated Genetics/Laboratory Corporation of America RCV000320859 SCV000494357 benign Hereditary breast and ovarian cancer syndrome 2014-01-13 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
Baylor Genetics RCV000471695 SCV000541030 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000113122 SCV000575744 benign Breast-ovarian cancer, familial 2 2015-09-18 criteria provided, single submitter 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000120317 SCV000602762 benign not specified 2018-07-02 criteria provided, single submitter clinical testing
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
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
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
Invitae RCV000320859 SCV001000607 benign Hereditary breast and ovarian cancer syndrome 2019-12-31 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.
ITMI RCV000120317 SCV000084469 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA2) RCV000113122 SCV000146152 not provided Breast-ovarian cancer, familial 2 no assertion provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113122 SCV000189302 benign Breast-ovarian cancer, familial 2 2011-03-15 no assertion criteria provided 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034436 SCV000778659 benign not provided 2017-03-06 no assertion criteria provided clinical testing

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