ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.316_316+3del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005199997 SCV005831827 likely pathogenic Hereditary breast ovarian cancer syndrome 2024-08-27 criteria provided, single submitter clinical testing This variant results in the deletion of exon 3 (c.316_316+3del) of the BRCA2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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 is present in population databases (rs756310203, gnomAD 0.0009%). This variant has been observed in individual(s) with breast cancer (PMID: 26689913, 31173646). This variant is also known as c.314_317delTAGG, g.32893460_32893463delTAGG. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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