ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7617+2T>G (rs81002843)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045261 SCV000073274 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-21 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 15 of the BRCA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. This particular variant has been reported in individuals affected with breast and ovarian cancer (PMID: 18693280, 24156927, 25112434). ClinVar contains an entry for this variant (Variation ID: 52364). Experimental studies have shown that this intronic change leads to the out-of-frame skipping of exon 15 of the BRCA2 gene (PMID: 18693280, 25146914). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113793 SCV000327694 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000045261 SCV000588115 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-20 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113793 SCV000744524 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113793 SCV000147146 pathogenic Breast-ovarian cancer, familial 2 2010-12-17 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113793 SCV000733304 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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