ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1379C>A (p.Ser460Ter)

dbSNP: rs1553644949
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527480 SCV000651853 pathogenic BAP1-related tumor predisposition syndrome 2023-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 472667). This premature translational stop signal has been observed in individual(s) with malignant mesothelioma (PMID: 21874000, 23684012, 27507853). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser460*) in the BAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BAP1 are known to be pathogenic (PMID: 21874000, 23684012).
Baylor Genetics RCV000527480 SCV004214937 pathogenic BAP1-related tumor predisposition syndrome 2021-07-22 criteria provided, single submitter clinical testing

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