APC p.Asp962del
c.2884_2886del · VCV4860842
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 11 | GERP 2.9, phastCons 1 |
Variant & gene context
- Gene
- APC
- Protein
- p.Asp962del
- Coding
- c.2884_2886del
- MANE Select
- NM_000038
- Type
- Deletion
- Location
- chr5:112838476 (GRCh38)
- Gene constraint
- LOEUF 0.321 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 962
- the 'disordered' region; the 'responsible for down-regulation through a process mediated by direct ubiquitination' region
Similar variants
- APC p.Asp962Gly Uncertain significance ★★ ⚠ same residue
- APC p.Asp962His Uncertain significance ★★ ⚠ same residue
- APC p.Asp962Asn Uncertain significance ★ same residue
- APC p.Asp962fs Likely pathogenic same residue
- APC p.Glu2172fs Pathogenic ★★★ same condition
- APC p.Gly53fs Likely pathogenic ★★★ same condition
- APC p.Leu68fs Pathogenic ★★★ same condition
- APC p.Ser2601fs Likely 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-asp962del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown