ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.792_793insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGTGATTACAGGCGTGAGCCACCGCGCCCGGCCTACAAGTTGTTT (p.Glu265delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuLeuThrSerTer)

dbSNP: rs2145426910
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001892030 SCV002145774 pathogenic Peutz-Jeghers syndrome 2021-08-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Retrotransposon insertions including LINE1 (L1), Alu, and SVA (SINE-VNTR-Alu) have been reported to be disease-causing through disruption of either a coding region or splice site (PMID: 19763152, 20307669, 22406018) and loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change inserts a large fragment of DNA, likely a transposable element, in exon 6 of the STK11 gene (c.792_793ins?), causing a frameshift at codon 265 (p.Glu265fs). The exact size and sequence of the insertion cannot be determined by the current assay. However, the insertion is expected to result in an absent or disrupted protein product.

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