Y46C (p.Tyr46Cys) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
Y46C (p.Tyr46Cys) 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 Autosomal dominant PTEN-related disorders; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y46C (p.Tyr46Cys) variant details
- p.Tyr46Cys
- rs786204915
- ClinGen CA000320
- ClinVar RCV001874356
- ClinVar RCV006635551
- Conflicting interpretations
- Autosomal dominant PTEN-related disorders; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.98
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Autosomal dominant PTEN-related disorders; Hereditary cancer-pre)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.725
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: PTEN Hamartoma Tumor Syndrome. (PMID 20301661)