T560R (p.Thr560Arg) variant of CDH1 (Cadherin-1)
T560R (p.Thr560Arg) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CDH1-related diffuse gastric and lobular breast cancer syndrome. The record also includes population frequency data, published literature, and structural context.
T560R (p.Thr560Arg) variant details
- p.Thr560Arg
- rs746481984
- ClinGen CA10577547
- cosmic curated COSV55729
- ClinVar RCV000219965
- Pathogenic
- CDH1-related diffuse gastric and lobular breast cancer syndrome
- Missense
- ClinVar: Pathogenic (CDH1-related diffuse gastric and lobular breast cancer syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)