P844H (p.Pro844His) variant of PMS2 (P54278)
P844H (p.Pro844His) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary nonpolyposis colon cancer; Hereditary nonpolyposis colorectal neoplas. The record also includes published literature and structural context.
P844H (p.Pro844His) variant details
- p.Pro844His
- rs587782787
- ClinGen CA011663
- ClinVar RCV000132336
- ClinVar RCV000469886
- Pathogenic/Likely pathogenic
- Hereditary nonpolyposis colon cancer; Hereditary nonpolyposis colorectal neoplas
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hereditary nonpolyposis colon cancer; Hereditary nonpolyposis co)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)