ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) (rs16942)

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Total submissions: 24
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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) RCV000112115 SCV000244342 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 = 0.00000000000204. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3562 (European), derived from 1000 genomes (2012-04-30).
Invitae RCV000034742 SCV000076242 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000112115 SCV000154008 benign Breast-ovarian cancer, familial 1 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 32.4 %.
Ambry Genetics RCV000128991 SCV000172884 benign Hereditary cancer-predisposing syndrome 2015-11-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Michigan Medical Genetics Laboratories,University of Michigan RCV000112115 SCV000195921 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120278 SCV000202266 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Color RCV000128991 SCV000292080 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120278 SCV000311795 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000048229 SCV000403059 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000048229 SCV000494319 benign Hereditary breast and ovarian cancer syndrome 2013-12-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000460753 SCV000540957 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120278 SCV000586893 benign not specified 2017-04-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120278 SCV000602662 benign not specified 2015-09-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000120278 SCV000605733 benign not specified 2016-12-19 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it has been i dentified in 50% (8252/16506) of South Asian, including 2129 homozygotes, and 39 % (2602/66384) of European chromosomes, including 3592 homozygotes, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNPrs16942). I n addition, this variant was classified as benign on August 10, 2015 by the Clin Gen- approved ENIGMA expert panel (ClinVar SCV000244342.1)
GeneKor MSA RCV000120278 SCV000693612 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112115 SCV000743405 benign Breast-ovarian cancer, familial 1 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112115 SCV000744632 benign Breast-ovarian cancer, familial 1 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 RCV000770891 SCV000899177 benign Breast carcinoma 2019-04-22 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034742 SCV000043166 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000120278 SCV000084430 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA1) RCV000112115 SCV000144787 benign Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112115 SCV000189339 benign Breast-ovarian cancer, familial 1 2011-03-22 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112115 SCV000733625 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034742 SCV000778745 benign not provided 2015-10-02 no assertion criteria provided clinical testing

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