ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7806-1G>T (rs81002860)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113825 SCV000327738 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000583733 SCV000689069 pathogenic Hereditary cancer-predisposing syndrome 2017-04-26 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113825 SCV000744527 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779979 SCV000916957 pathogenic Hereditary breast and ovarian cancer syndrome 2018-01-18 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7806-1G>T variant involves the alteration of a highly conserved nucleotide in the canonical splice acceptor site. 5/5 splice prediction tools predict abrogation of the splice site. In vitro functional study shows that this change leads to activation of an alternate splice acceptor site 20 nucleotide downstream which results into frame-shift leading to premature truncation (Fraile-Bethencourt_2017). Thus this variant results into loss of function which is a known disease mechanism in HBOC. This variant is absent in 245952 control chromosomes (gnomAD). This variant has been reported in at least two unrelated HBOC patients/families in literature (Weren_2017) and a clinical database. Multiple clinical diagnostic laboratories/reputable databases have classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113825 SCV000147192 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113825 SCV000733306 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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