ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1139A>G (p.Asn380Ser)

gnomAD frequency: 0.00001  dbSNP: rs1247102370
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556098 SCV000629064 likely benign Peutz-Jeghers syndrome 2024-06-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000774976 SCV000909069 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-23 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 380 of the STK11 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with STK11-related disorders in the literature. This variant has been identified in 1/31366 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV000556098 SCV002057938 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774976 SCV002606762 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-05 criteria provided, single submitter clinical testing The c.1139A>G (p.N380S) alteration is located in exon 9 (coding exon 9) of the STK11 gene. This alteration results from a A to G substitution at nucleotide position 1139, causing the asparagine (N) at amino acid position 380 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV000556098 SCV004818992 uncertain significance Peutz-Jeghers syndrome 2023-10-23 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 380 of the STK11 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/31366 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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