D92G (p.Asp92Gly) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D92G (p.Asp92Gly) 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 pathogenic/likely pathogenic in the context of PTEN hamartoma tumor syndrome; Autosomal dominant PTEN-related disorders; Heredi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D92G (p.Asp92Gly) variant details
- p.Asp92Gly
- rs1114167623
- ClinGen CA377482085
- NCI-TCGA Cosmic COSV6428
- NCI-TCGA Cosmic COSV6430
- Pathogenic/Likely pathogenic
- PTEN hamartoma tumor syndrome; Autosomal dominant PTEN-related disorders; Heredi
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.98
- CADD 29.20
- ClinVar: Pathogenic/Likely pathogenic (PTEN hamartoma tumor syndrome; Autosomal dominant PTEN-related d)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.659
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)