ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.250A>T (p.Lys84Ter)

dbSNP: rs137853076
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132431 SCV000187525 pathogenic Hereditary cancer-predisposing syndrome 2020-01-23 criteria provided, single submitter clinical testing The p.K84* pathogenic mutation (also known as c.250A>T), located in coding exon 1 of the STK11 gene, results from an A to T substitution at nucleotide position 250. This changes the amino acid from a lysine to a stop codon within coding exon 1. This mutation has been reported in several unrelated individuals diagnosed with Peutz-Jeghers syndrome (Hemminki A et al. Nature 1998 Jan;391:184-7; Lim W et al. Gastroenterology 2004 Jun;126:1788-94; Mehenni H et al. Dig. Dis. Sci. 2007 Aug;52:1924-33; Jiang Y et al. BMC Med. Genet. 2018 08;19(1):141). In addition to the clinical data presented in the literature, 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.
Invitae RCV000007869 SCV000541165 pathogenic Peutz-Jeghers syndrome 2023-06-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 7443). This premature translational stop signal has been observed in individuals with Peutz-Jeghers syndrome (PMID: 9428765, 9887330, 15188174, 17404884). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys84*) in the STK11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760079 SCV000889854 pathogenic not provided 2018-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000760079 SCV001816775 pathogenic not provided 2021-04-29 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 9428765, 24830819, 29310834, 24652667, 28251689, 28082048, 32390703, 9887330, 17404884, 12865922, 15188174, 30092773, 30807303, 31515776, 28152038)
Genome-Nilou Lab RCV000007869 SCV002057356 pathogenic Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
OMIM RCV000007869 SCV000028074 pathogenic Peutz-Jeghers syndrome 1998-01-08 no assertion criteria provided literature only

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