N12S (p.Asn12Ser) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
N12S (p.Asn12Ser) 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.
N12S (p.Asn12Ser) variant details
- p.Asn12Ser
- rs1085308044
- ClinGen CA377781898
- ClinVar RCV001776955
- ClinVar RCV001868818
- Uncertain significance
- PTEN hamartoma tumor syndrome
- Missense
- ClinVar: Uncertain significance (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.435
- 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)