V17I (p.Val17Ile) variant of MSH2 (DNA mismatch repair protein Msh2)
V17I (p.Val17Ile) in MSH2 (DNA mismatch repair protein Msh2) 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 1; Hereditary nonpolypos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- rs63750966
- ClinGen CA346728561
- cosmic curated COSV51883
- ClinVar RCV000584099
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Lynch syndrome 1; Hereditary nonpolypos
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.54
- MetaSVM -0.44
- CADD 12.80
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Lynch syndrome 1; Hered)
- EBI: Likely benign (in gastric cancer)
- UniProt: Likely benign (in gastric cancer)
- Most common in the HGDP:SAN population (allele frequency 1)
- 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)