ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.291-1G>A

dbSNP: rs112675807
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016940 SCV001177949 pathogenic Hereditary cancer-predisposing syndrome 2018-11-13 criteria provided, single submitter clinical testing The c.291-1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide upstream from coding exon 2 of the STK11 gene. This variant has been reported in one Chinese family with Peutz-Jeghers syndrome (Wang Z et al. Hum. Mutat., 2014 Jul;35:851-8). This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

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