ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)

dbSNP: rs869312775
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen PTEN Variant Curation Expert Panel, Clingen RCV000988418 SCV002576555 uncertain significance PTEN hamartoma tumor syndrome 2021-06-04 reviewed by expert panel curation PTEN c.344A>G (p.Asp115Gly) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the “PTEN ACMG Specifications Summary” document (assertion method column). PM2: Absent in large sequenced populations (PMID 27535533). PP2: PTEN is defined by the PTEN Expert Panel as a gene that has a low rate of benign missense variation and where missense variants are a common mechanism of disease.
University of Washington Department of Laboratory Medicine, University of Washington RCV000210160 SCV000266122 likely pathogenic Cowden syndrome 2015-11-20 criteria provided, single submitter clinical testing
Mendelics RCV000988418 SCV001138131 likely pathogenic PTEN hamartoma tumor syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000988418 SCV001400037 uncertain significance PTEN hamartoma tumor syndrome 2024-02-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 115 of the PTEN protein (p.Asp115Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with colon cancer (PMID: 26845104). ClinVar contains an entry for this variant (Variation ID: 224542). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PTEN protein function with a negative predictive value of 80%. 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.

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