ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1975A>T (p.Lys659Ter)

dbSNP: rs1553644659
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649771 SCV000771603 pathogenic BAP1-related tumor predisposition syndrome 2023-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys659*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with uveal/ocular melanoma (PMID: 22545102, 25974357). ClinVar contains an entry for this variant (Variation ID: 539901). For these reasons, this variant has been classified as Pathogenic.

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