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We report a  STK11  splicing variant comprising a 131-bp insertion that is derived from intron 1, which has previously been reported to possess potent pathogenicity. The same variant was detected in a Peutz–Jeghers syndrome patient harboring a genomic deletion in the vicinity of exon 1 of the  STK11  gene, which indicated that this variant was derived from the wild-type allele. We also found the same variant in other normal subjects. This variant corresponds to the predicted transcript variant of  STK11  ( XM_011528209 ), which is derived from the genomic sequence of Chr19 ( NT_011295.12 ). Therefore, we concluded that the splicing variant was not pathogenic.

human genome variation

Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz–Jeghers syndrome harboring genomic deletion of the STK11 gene