ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4563A>G (p.Leu1521=) (rs206075)

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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) RCV000119245 SCV000245032 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 0.8902 (African), derived from 1000 genomes (2012-04-30).
Counsyl RCV000119245 SCV000154035 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 99.9 %.
GeneDx RCV000152875 SCV000167365 benign not specified 2014-12-09 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 RCV000132170 SCV000187248 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000119245 SCV000195985 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152875 SCV000202287 benign not specified 2015-10-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152875 SCV000268809 benign not specified 2016-03-18 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.4563A) is the minor allele. This a llele (A) has been identified in 7.4% (758/10300) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2060 75) and thus meets criteria to be classified as benign.
PreventionGenetics,PreventionGenetics RCV000152875 SCV000301764 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000257902 SCV000383698 benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340564 SCV000383699 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000257902 SCV000494326 benign Hereditary breast and ovarian cancer syndrome 2013-12-20 criteria provided, single submitter clinical testing
Color RCV000132170 SCV000537315 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000461053 SCV000541017 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152875 SCV000586951 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000152875 SCV000591909 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656604 SCV000602737 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000656604 SCV000635377 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
GeneKor MSA RCV000152875 SCV000693637 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000119245 SCV000743299 benign Breast-ovarian cancer, familial 2 2014-10-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000119245 SCV000733258 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656604 SCV000778675 benign not provided 2016-11-28 no assertion criteria provided clinical testing

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