ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7806-2A>G (rs81002836)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131088 SCV000186018 pathogenic Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Functionally-validated splicing mutation
Breast Cancer Information Core (BIC) (BRCA2) RCV000077414 SCV000147193 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414989 SCV000492750 pathogenic Neoplasm of ovary 2015-10-06 criteria provided, single submitter clinical testing
Color RCV000131088 SCV000903528 likely pathogenic Hereditary cancer-predisposing syndrome 2018-07-11 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077414 SCV000327739 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000045321 SCV000592147 pathogenic Hereditary breast and ovarian cancer syndrome 2014-11-19 criteria provided, single submitter clinical testing
Invitae RCV000045321 SCV000073334 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-26 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 16 of the BRCA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with breast/ovarian cancer and is considered a founder mutation in the Slovenian population (PMID: 10449599, 12461697, 23199084, 12461697, 18439106, 18783588, 21232165). ClinVar contains an entry for this variant (Variation ID: 52418). Experimental studies have shown that this splice site change leads to aberrant splicing (PMID: 10449599, 12461697). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077414 SCV000296681 pathogenic Breast-ovarian cancer, familial 2 2015-04-21 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000045321 SCV000587912 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077414 SCV000109212 likely pathogenic Breast-ovarian cancer, familial 2 2007-08-10 no assertion criteria provided clinical testing

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