ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.115CGC[1] (p.Arg40del)

dbSNP: rs774900889
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248225 SCV001421695 uncertain significance Peutz-Jeghers syndrome 2019-09-30 criteria provided, single submitter clinical testing This variant has been observed in an individual affected with breast and/or ovarian cancer (PMID: 29470806). This variant is present in population databases (rs774900889, ExAC 0.006%). This variant, c.118_120del, results in the deletion of 1 amino acid(s) of the STK11 protein (p.Arg40del), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002339692 SCV002639167 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-18 criteria provided, single submitter clinical testing The c.118_120delCGC variant (also known as p.R40del) is located in coding exon 1 of the STK11 gene. This variant results from an in-frame CGC deletion at nucleotide positions 118 to 120. This results in the in-frame deletion of an arginine at codon 40. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV002339692 SCV004362377 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-24 criteria provided, single submitter clinical testing This variant is an in-frame deletion of arginine at codon 40 of the STK11 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals with an indication of breast and/or ovarian cancer in the literature (PMID: 29470806). This variant has been identified in 1/248062 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.
All of Us Research Program, National Institutes of Health RCV001248225 SCV004816315 uncertain significance Peutz-Jeghers syndrome 2023-06-08 criteria provided, single submitter clinical testing This variant is an in-frame deletion of arginine at codon 40 of the STK11 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals with an indication of breast and/or ovarian cancer in the literature (PMID: 29470806). This variant has been identified in 1/248062 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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