ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) (rs28897679)

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Total submissions: 21
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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) RCV000111743 SCV000244747 benign Breast-ovarian cancer, familial 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 and ovarian cancer syndrome 2020-12-04 criteria provided, single submitter clinical testing
Counsyl RCV000111743 SCV000153992 benign Breast-ovarian cancer, familial 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 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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173846 SCV000225007 benign not specified 2015-09-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000111743 SCV000403069 benign Breast-ovarian cancer, familial 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 and 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 1 2015-08-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282377 SCV000602680 benign none provided 2020-07-29 criteria provided, single submitter clinical testing
Color Health, Inc 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 1 2014-10-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000111743 SCV000744669 benign Breast-ovarian cancer, familial 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
Breast Cancer Information Core (BIC) (BRCA1) RCV000111743 SCV000144265 uncertain significance Breast-ovarian cancer, familial 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

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