ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.865A>C (p.Asn289His)

gnomAD frequency: 0.03693  dbSNP: rs766173
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 38
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112858 SCV000245001 benign Breast-ovarian cancer, familial, susceptibility to, 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), 0.01423 (African), 0.03694 (European), derived from 1000 genomes (2012-04-30).
Counsyl RCV000112858 SCV000154039 benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 3.7 %.
GeneDx RCV000120305 SCV000167328 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 RCV000130996 SCV000185919 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 RCV000112858 SCV000195955 benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-11-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000120305 SCV000224756 benign not specified 2015-06-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000130996 SCV000292098 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000120305 SCV000301778 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351416 SCV000383616 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.
Illumina Laboratory Services, Illumina RCV000112858 SCV000383617 benign Breast-ovarian cancer, familial, susceptibility to, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000393165 SCV000494345 benign Hereditary breast ovarian cancer syndrome 2014-01-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000470594 SCV000541027 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency RCV000120305 SCV000586920 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034465 SCV000602763 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneKor MSA RCV000120305 SCV000693628 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000112858 SCV000743252 benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-10-09 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000112858 SCV000744395 benign Breast-ovarian cancer, familial, susceptibility to, 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 RCV000768559 SCV000899228 benign Breast carcinoma 2019-04-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000393165 SCV001000604 benign Hereditary breast ovarian cancer syndrome 2024-02-01 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV000393165 SCV002026057 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited RCV000112858 SCV002097612 benign Breast-ovarian cancer, familial, susceptibility to, 2 criteria provided, single submitter clinical testing
Genetics Program, Instituto Nacional de Cancer RCV000393165 SCV002515245 benign Hereditary breast ovarian cancer syndrome 2021-11-01 criteria provided, single submitter research
Sema4, Sema4 RCV000130996 SCV002531965 benign Hereditary cancer-predisposing syndrome 2020-01-02 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000120305 SCV002550267 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496513 SCV002809668 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 2022-04-28 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000112858 SCV004016818 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 RCV000112858 SCV004846832 benign Breast-ovarian cancer, familial, susceptibility to, 2 2024-02-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000034465 SCV005236033 benign not provided criteria provided, single submitter not provided
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034465 SCV000043192 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000120305 SCV000084457 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA2) RCV000112858 SCV000145781 benign Breast-ovarian cancer, familial, susceptibility to, 2 2002-05-29 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112858 SCV000189317 benign Breast-ovarian cancer, familial, susceptibility to, 2 2011-03-15 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000112858 SCV000733219 benign Breast-ovarian cancer, familial, susceptibility to, 2 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000034465 SCV000778637 benign not provided 2017-03-06 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000120305 SCV001550120 benign not specified no assertion criteria provided clinical testing #N/A
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000120305 SCV001799411 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000120305 SCV001906181 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000120305 SCV001959362 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.