ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3396A>G (p.Lys1132=) (rs1801406)

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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656596 SCV000602740 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130987 SCV000185907 benign Hereditary cancer-predisposing syndrome 2014-10-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000114982 SCV000541016 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113170 SCV000146225 benign Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152873 SCV000586941 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000130987 SCV000537334 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Counsyl RCV000113170 SCV000154055 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 30.7 %.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113170 SCV000744438 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113170 SCV000733244 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152873 SCV000202284 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113170 SCV000245027 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 0.3846 (Asian), 0.1646 (African), 0.2942 (European), derived from 1000 genomes (2012-04-30).
GeneKor MSA RCV000152873 SCV000693635 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000113170 SCV000743284 benign Breast-ovarian cancer, familial 2 2014-10-10 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000114982 SCV000148883 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.
Illumina Clinical Services Laboratory,Illumina RCV000337515 SCV000383673 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375777 SCV000383674 benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000375777 SCV000494317 benign Hereditary breast and ovarian cancer syndrome 2013-12-20 criteria provided, single submitter clinical testing
Invitae RCV000375777 SCV000635278 benign Hereditary breast and ovarian cancer syndrome 2017-07-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152873 SCV000605774 benign not specified 2016-05-23 criteria provided, single submitter clinical testing p.Lys1132Lys in exon 11 of BRCA2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 38.48% (3323/8636) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs1801406).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656596 SCV000778663 benign not provided 2016-11-28 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113170 SCV000195975 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152873 SCV000301761 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113170 SCV000189303 benign Breast-ovarian cancer, familial 2 2011-03-17 no assertion criteria provided clinical testing

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