ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.831dup (p.Glu278fs)

dbSNP: rs1553645497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649773 SCV000771605 pathogenic BAP1-related tumor predisposition syndrome 2023-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu278Argfs*6) 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 variant has not been reported in the literature in individuals affected with BAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 539903). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002424514 SCV002680514 pathogenic Hereditary cancer-predisposing syndrome 2020-09-29 criteria provided, single submitter clinical testing The c.831dupA variant, located in coding exon 10 of the BAP1 gene, results from a duplication of A at nucleotide position 831, causing a translational frameshift with a predicted alternate stop codon (p.E278Rfs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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