ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1971A>G (p.Gln657_Met658=)

gnomAD frequency: 0.00707  dbSNP: rs28897679
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 26
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) RCV000111743 SCV000244747 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01829 (African), derived from 1000 genomes (2012-04-30).
Invitae RCV000047668 SCV000075681 benign Hereditary breast ovarian cancer syndrome 2021-12-11 criteria provided, single submitter clinical testing
Counsyl RCV000111743 SCV000153992 benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-01-02 criteria provided, single submitter literature only
GeneDx RCV000173846 SCV000167246 benign not specified 2013-09-17 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.
Michigan Medical Genetics Laboratories,University of Michigan RCV000111743 SCV000195898 benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162491 SCV000212871 benign Hereditary cancer-predisposing syndrome 2015-11-06 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
Eurofins NTD LLC (GA) RCV000173846 SCV000225007 benign not specified 2015-09-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000111743 SCV000403069 benign Breast-ovarian cancer, familial, susceptibility to, 1 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 RCV000047668 SCV000494305 benign Hereditary breast ovarian cancer syndrome 2014-03-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000466198 SCV000540972 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000111743 SCV000575716 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-08-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000656638 SCV000602680 benign not provided 2022-02-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162491 SCV000683005 benign Hereditary cancer-predisposing syndrome 2015-04-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000111743 SCV000743422 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2014-10-10 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000111743 SCV000744669 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173846 SCV000806906 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769721 SCV000901142 benign Breast and/or ovarian cancer 2016-03-08 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV000047668 SCV002025996 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000173846 SCV002070455 benign not specified 2021-05-24 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111743 SCV000144265 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 1998-11-17 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353799 SCV000591359 benign Malignant tumor of breast no assertion criteria provided clinical testing Borg_2010 Fackenthal_2012
Mayo Clinic Laboratories,Mayo Clinic RCV000656638 SCV000778765 likely benign not provided 2017-03-09 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162491 SCV000787894 likely benign Hereditary cancer-predisposing syndrome 2017-09-29 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000173846 SCV001905714 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000173846 SCV001956274 benign not specified no assertion criteria provided clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000173846 SCV002551026 benign not specified 2022-05-24 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.