ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) (rs80359065)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129090 SCV000183800 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113885 SCV000147296 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000129090 SCV000683950 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Counsyl RCV000113885 SCV000220904 benign Breast-ovarian cancer, familial 2 2014-11-21 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120363 SCV000592178 benign not specified 2013-03-25 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113885 SCV000244483 benign Breast-ovarian cancer, familial 2 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 = 0.0000165. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.01224 (Asian), derived from 1000 genomes (2012-04-30).
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735610 SCV000863748 benign Breast and/or ovarian cancer 2013-02-14 no assertion criteria provided clinical testing
ITMI RCV000120363 SCV000084515 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000286060 SCV000383781 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000045445 SCV000383782 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000045445 SCV000073458 benign Hereditary breast and ovarian cancer syndrome 2018-01-11 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113885 SCV000267817 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
OMIM RCV000009925 SCV000030146 pathogenic Fanconi anemia, complementation group D1 2002-07-26 no assertion criteria provided literature only
PreventionGenetics RCV000120363 SCV000301777 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113885 SCV000054332 benign Breast-ovarian cancer, familial 2 2011-03-14 no assertion criteria provided clinical testing

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