ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) (rs1799967)

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Total submissions: 33
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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) RCV000112434 SCV000244374 benign Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000148. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.02243 (European), derived from 1000 genomes (2012-04-30).
Invitae RCV000048709 SCV000076722 benign Hereditary breast and ovarian cancer syndrome 2020-12-01 criteria provided, single submitter clinical testing
Counsyl RCV000112434 SCV000153999 benign Breast-ovarian cancer, familial 1 2014-01-02 criteria provided, single submitter literature only
GeneDx RCV000120261 SCV000167315 benign not specified 2013-09-04 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 RCV000128916 SCV000172783 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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 RCV000112434 SCV000195935 benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000120261 SCV000226314 benign not specified 2014-08-07 criteria provided, single submitter clinical testing
Vantari Genetics RCV000128916 SCV000267003 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-22 criteria provided, single submitter clinical testing
Color Health, Inc RCV000128916 SCV000292109 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000048709 SCV000297227 benign Hereditary breast and ovarian cancer syndrome 2015-11-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120261 SCV000311798 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000112434 SCV000403056 likely benign Breast-ovarian cancer, familial 1 2018-01-24 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000048709 SCV000494358 benign Hereditary breast and ovarian cancer syndrome 2014-01-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV000476093 SCV000540962 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000112434 SCV000575712 likely benign Breast-ovarian cancer, familial 1 2015-09-03 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120261 SCV000586904 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283017 SCV000602685 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
GeneKor MSA RCV000120261 SCV000693618 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112434 SCV000743385 benign Breast-ovarian cancer, familial 1 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112434 SCV000744605 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Mendelics RCV000112434 SCV001140499 benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000112434 SCV001440666 likely benign Breast-ovarian cancer, familial 1 2019-01-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120261 SCV001470003 benign not specified 2020-06-15 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034756 SCV000043153 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000120261 SCV000084413 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA1) RCV000112434 SCV000145222 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112434 SCV000189346 benign Breast-ovarian cancer, familial 1 2011-03-08 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000112434 SCV000733603 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000034756 SCV000778735 benign not provided 2016-11-17 no assertion criteria provided clinical testing
True Health Diagnostics RCV000128916 SCV000787908 benign Hereditary cancer-predisposing syndrome 2017-11-15 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000112434 SCV001243268 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro
Center of Medical Genetics and Primary Health Care RCV001270155 SCV001450446 benign Malignant tumor of breast no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120261 SCV001551789 benign not specified no assertion criteria provided clinical testing

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