K440N (p.Lys440Asn) variant of CDH1 (Cadherin-1)
K440N (p.Lys440Asn) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian cancer. The record also includes published literature and structural context.
K440N (p.Lys440Asn) variant details
- p.Lys440Asn
- rs1555515925
- ClinGen CA396461956
- NCI-TCGA Cosmic COSV5572
- cosmic curated COSV55728
- Likely pathogenic
- Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian cancer
- Missense
- ClinVar: Likely pathogenic (Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. (PMID 28301459)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)