APC p.Ala3Ile
c.7_8delinsAT · VCV4861006
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 2.8, phastCons 1 |
| Regional constraint | o/e 1.01 | unconstrained · MANE · 61 kb · p 0.82 · regional, not allelic |
Variant & gene context
- Gene
- APC
- Protein
- p.Ala3Ile
- Coding
- c.7_8delinsAT
- MANE Select
- NM_000038
- Type
- Indel
- Location
- chr5:112754897 (GRCh38)
- Gene constraint
- LOEUF 0.321 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Similar variants
- APC p.Ala3Val Uncertain significance ★★ same residue
- APC p.Ala3Ser Uncertain significance ★ same residue
- APC c.931_933+2delinsCA Pathogenic/Likely pathogenic ★★ same condition
- APC c.-192_-191delinsTAGCAAGGG Likely pathogenic ★★ same condition
- APC p.Ala1598fs Pathogenic/Likely pathogenic ★★ same condition
- APC p.His931fs Pathogenic ★★ same condition
- APC p.Leu666_Gln667delinsTer Pathogenic ★★ same condition
- APC p.Lys1608fs 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/apc-p-ala3ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown