ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1416del (p.Ser473fs)

dbSNP: rs1060503731
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475581 SCV000553935 pathogenic BAP1-related tumor predisposition syndrome 2016-11-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 1 nucleotide from exon 13 of the BAP1 mRNA (c.1416delG), causing a frameshift at codon 473. This creates a premature translational stop signal (p.Ser473Valfs*98) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BAP1 are known to be pathogenic (PMID: 23684012, 21874000).

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