D22G (p.Asp22Gly) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
D22G (p.Asp22Gly) 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 Hereditary cancer-predisposing syndrome; not provided; PTEN hamartoma tumor synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D22G (p.Asp22Gly) variant details
- p.Asp22Gly
- rs1554890398
- ClinGen CA377782015
- ClinVar RCV000571172
- ClinVar RCV004794415
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; PTEN hamartoma tumor synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.87
- MetaLR 0.93
- MetaSVM 1.03
- CADD 25.70
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; PTEN hama)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- PTEN VAMP-seq Combined: score 0.901
- 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)