ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7977-3_7977-2delinsAG (rs1135401921)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000496783 SCV000759228 likely pathogenic Hereditary breast and ovarian cancer syndrome 2017-08-22 criteria provided, single submitter clinical testing This sequence change affects the acceptor splice site in intron 17 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 not been reported in the literature in individuals with BRCA2-related disease. 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496783 SCV000587926 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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