ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.863-14C>G

dbSNP: rs756001994
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480152 SCV000568922 uncertain significance not provided 2016-11-23 criteria provided, single submitter clinical testing This variant is denoted STK11 c.863-14C>G or IVS6-14C>G and consists of a C>G nucleotide substitution at the -14 position of intron 6 of the STK11 gene. Multiple in silico models predict this variant to weaken the nearby natural acceptor site, and to possibly cause abnormal gene splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. STK11 c.863-14C>G was not observed in approximately 5,800 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The cytosine (C) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether STK11 c.863-14C>G is pathogenic or benign.
Color Diagnostics, LLC DBA Color Health RCV001185055 SCV001351194 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-01 criteria provided, single submitter clinical testing This variant causes a C to G nucleotide substitution at the -14 position of intron 6 of the STK11 gene. Splice site prediction tools suggest that this variant may not impact RNA splicing. However, this prediction has not been confirmed in published RNA studies. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified 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 RCV001809435 SCV002057864 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Invitae RCV001809435 SCV002480816 likely benign Peutz-Jeghers syndrome 2023-10-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001809435 SCV004816537 uncertain significance Peutz-Jeghers syndrome 2023-04-03 criteria provided, single submitter clinical testing This variant causes a C to G nucleotide substitution at the -14 position of intron 6 of the STK11 gene. Splice site prediction tools suggest that this variant may not impact RNA splicing. However, this prediction has not been confirmed in published RNA studies. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified 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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