S18Y (p.Ser18Tyr) variant of CDH1 (Cadherin-1)
S18Y (p.Ser18Tyr) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary diffuse gastric adenocarcinoma. The record also includes published literature and structural context.
S18Y (p.Ser18Tyr) variant details
- p.Ser18Tyr
- rs2543816506
- ClinGen CA396451600
- ClinVar RCV003229711
- Uncertain significance
- Hereditary diffuse gastric adenocarcinoma
- Missense
- ClinVar: Uncertain significance (Hereditary diffuse gastric adenocarcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)