PMS2 p.Arg211del
c.632_634del · VCV3308085
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hereditary neoplastic syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 6.1 | phastCons 1 |
Variant & gene context
- Gene
- PMS2
- Protein
- p.Arg211del
- Coding
- c.632_634del
- MANE Select
- NM_000535
- Type
- Deletion
- Location
- chr7:5999179 (GRCh38)
- Gene constraint
- LOEUF 0.898 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 71.37 · 9 PDB
- Residue 211
- a β-strand
Similar variants
- PMS2 p.Arg211fs Pathogenic ★★ same residue
- PMS2 p.Arg211Ter Pathogenic ★★ same residue
- PMS2 p.Arg211Gly Uncertain significance ★★ ⚠ same residue
- PMS2 p.Arg211Leu Uncertain significance ★★ same residue
- PMS2 p.Arg211= Benign/Likely benign ★★ same residue
- PMS2 p.Arg211Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
- PMS2 c.989-296_1144+706del Pathogenic ★★★ same condition
- PMS2 p.Glu180_Tyr181insTer Pathogenic ★★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/pms2-p-arg211del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown