ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8755-2A>C

dbSNP: rs1566252482
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688029 SCV000815625 likely pathogenic Hereditary breast ovarian cancer syndrome 2018-05-02 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 21 of the BRCA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. 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. 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). This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant is not present in population databases (ExAC no frequency).
Myriad Genetics, Inc. RCV003316797 SCV004018433 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2023-03-24 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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