SUFU p.Asp276Phe
c.826_827delinsTT · VCV4865248
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 12 | GERP 2.9, phastCons 1 |
| Regional constraint | o/e 0.70 | unconstrained · MANE · 126 kb · p 5.7e-14 · regional, not allelic |
Variant & gene context
- Gene
- SUFU
- Protein
- p.Asp276Phe
- Coding
- c.826_827delinsTT
- MANE Select
- NM_016169
- Type
- Indel
- Location
- chr10:102597209 (GRCh38)
- Gene constraint
- LOEUF 0.214 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 82.95 · 10 PDB
- Residue 276
- a β-strand
Similar variants
- SUFU p.Asp276Gly Uncertain significance ★★ ⚠ same residue
- SUFU p.Asp276Tyr Uncertain significance ★★ ⚠ same residue
- SUFU p.Asp276Val Uncertain significance ★★ ⚠ same residue
- SUFU p.Asp276= Likely benign ★★ same residue
- SUFU p.Asp276Glu Uncertain significance ★ ⚠ same residue
- SUFU p.Leu52Thr Uncertain significance ★★ same condition
- SUFU p.Leu390_His394delinsGluTer Pathogenic ★ same condition
- SUFU c.910+3_910+4delinsCCAC Uncertain significance ★ 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/sufu-p-asp276phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown