R20G (p.Arg20Gly) variant of PMS2 (P54278)
R20G (p.Arg20Gly) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Lynch syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- rs573374779
- ClinGen CA050459
- ClinVar RCV000468998
- ClinVar RCV000561984
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Lynch syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.32
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Lynch syndrome; not pro)
- EBI: Likely benign (in LYNCH4)
- UniProt: Likely benign (in LYNCH4)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- 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: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)