POLE p.Arg976del
c.2923CGC[1] · VCV4700509
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 7.6 | GERP 1.5, phastCons 1 |
Variant & gene context
- Gene
- POLE
- Protein
- p.Arg976del
- Coding
- c.2923CGC[1]
- MANE Select
- NM_006231
- Type
- Microsatellite
- Location
- chr12:132661101 (GRCh38)
- Gene constraint
- LOEUF 0.75 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 80.32 · 18 PDB
- Residue 976
- a β-strand; a UniProt-annotated variant site (in imagei)
Similar variants
- POLE p.Arg976Cys Uncertain significance ★★ ⚠ same residue
- POLE p.Arg976His Uncertain significance ★★ ⚠ same residue
- POLE p.Arg976= Benign/Likely benign ★★ same residue
- POLE p.Arg976fs Pathogenic ★ same residue
- POLE p.Arg976Gly Uncertain significance ★ ⚠ same residue
- POLE p.Arg976Pro Uncertain significance ★ ⚠ same residue
- POLE p.Ile170fs Pathogenic ★★ same type
- POLE p.Ala1225dup Uncertain significance ★★ same type
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/pole-p-arg976del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown