R14G (p.Arg14Gly) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
R14G (p.Arg14Gly) in PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PTEN hamartoma tumor syndrome. The record also includes experimental measurements, published literature, and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- rs1085308047
- ClinGen CA377781914
- ClinVar RCV000490585
- ClinVar RCV000492940
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.41
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)