G165E (p.Gly165Glu) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
G165E (p.Gly165Glu) 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 conflicting interpretations in the context of PTEN hamartoma tumor syndrome; Cowden syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G165E (p.Gly165Glu) variant details
- p.Gly165Glu
- rs786204863
- ClinGen CA377484225
- NCI-TCGA Cosmic COSV6429
- Conflicting interpretations
- PTEN hamartoma tumor syndrome; Cowden syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.96
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (PTEN hamartoma tumor syndrome; Cowden syndrome 1)
- EBI: Pathogenic (in CWS1)
- UniProt: Pathogenic (in CWS1)
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.05
- Cited in: Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. (PMID 10234502)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)