Y16C (p.Tyr16Cys) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
Y16C (p.Tyr16Cys) 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.
Y16C (p.Tyr16Cys) variant details
- p.Tyr16Cys
- rs2132145799
- ClinGen CA377781941
- ClinVar RCV003620530
- Ensembl rs2132145799
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.13
- Cited in: Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. (PMID 10866302)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)