ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.465-3C>T

gnomAD frequency: 0.00001  dbSNP: rs587781619
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129708 SCV000184509 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-16 criteria provided, single submitter clinical testing The c.465-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 4 in the STK11 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000469246 SCV000541150 uncertain significance Peutz-Jeghers syndrome 2023-07-12 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 141268). This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 3 of the STK11 gene. It does not directly change the encoded amino acid sequence of the STK11 protein. It affects a nucleotide within the consensus splice site.
Mendelics RCV000469246 SCV000839414 uncertain significance Peutz-Jeghers syndrome 2018-07-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000469246 SCV002057801 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000469246 SCV003807793 uncertain significance Peutz-Jeghers syndrome 2022-08-02 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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