ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.375-2A>G

dbSNP: rs2080765141
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055291 SCV001219677 uncertain significance Peutz-Jeghers syndrome 2019-12-31 criteria provided, single submitter clinical testing This variant has been observed in an individual with Peutz-Jeghers syndrome (PMID: 15188174). This variant is also known as IVS2-2A>G in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 2 of the STK11 gene. It does not directly change the encoded amino acid sequence of the STK11 protein, but it affects a nucleotide within the consensus splice site of the intron. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant affects a splice site of the intron 2, which has atypical splice acceptor sequences AC, instead of the canonical AG dinucleotides. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown.

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