ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1891-14_1891del

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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 RCV003644021 SCV004434362 uncertain significance BAP1-related tumor predisposition syndrome 2023-03-16 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 15 of the BAP1 gene. RNA analysis indicates that this variant induces altered splicing and likely results in the gain of 18 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. Studies have shown that this variant results in the activation of a cryptic splice site in intron 14 (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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