N12I (p.Asn12Ile) variant of PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-)
N12I (p.Asn12Ile) 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 likely pathogenic in the context of PTEN hamartoma tumor syndrome. The record also includes experimental measurements, published literature, and structural context.
N12I (p.Asn12Ile) variant details
- p.Asn12Ile
- rs1085308044
- ClinGen CA377781896
- ClinVar RCV001214844
- Ensembl rs1085308044
- Likely pathogenic
- PTEN hamartoma tumor syndrome
- Missense
- ClinVar: Likely pathogenic (PTEN hamartoma tumor syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.435
- 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)