ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1365A>G (p.Ser455=) (rs1801439)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656587 SCV000602760 benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131025 SCV000185954 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000476213 SCV000541028 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112914 SCV000145860 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000173629 SCV000586927 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000131025 SCV000537348 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Counsyl RCV000112914 SCV000154041 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 3.7 %.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112914 SCV000744409 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112914 SCV000733229 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173629 SCV000224757 benign not specified 2015-06-30 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112914 SCV000245004 benign Breast-ovarian cancer, familial 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).
GeneDx RCV000173629 SCV000167332 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.
GeneKor MSA RCV000173629 SCV000693630 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112914 SCV000743258 benign Breast-ovarian cancer, familial 2 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387648 SCV000383631 benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288642 SCV000383632 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000387648 SCV000494302 benign Hereditary breast and ovarian cancer syndrome 2014-01-13 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656587 SCV000778644 benign not provided 2017-03-06 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112914 SCV000195960 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000173629 SCV000301755 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112914 SCV000189294 benign Breast-ovarian cancer, familial 2 2011-03-15 no assertion criteria provided clinical testing

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