S34G (p.Ser34Gly) variant of PMS2 (P54278)
S34G (p.Ser34Gly) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lynch syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S34G (p.Ser34Gly) variant details
- p.Ser34Gly
- rs730881912
- ClinGen CA366745064
- ClinVar RCV002440875
- ClinVar RCV004808122
- Uncertain significance
- Lynch syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.43
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Uncertain significance (Lynch syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)