APC2 p.Ala340fs
c.1000_1016dup · VCV4085202
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 9 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -2.6 | GERP -3.5 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- APC2
- Protein
- p.Ala340fs
- Coding
- c.1000_1016dup
- MANE Select
- NM_005883
- Type
- Duplication
- Location
- chr19:1457030 (GRCh38)
- Gene constraint
- LOEUF 0.961 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 48.87
- Residue 340
- a UniProt-annotated variant site (in cdcbm10)
Similar variants
- APC2 p.Cys313fs Likely pathogenic ★ same type
- APC2 p.Gln267fs Likely pathogenic ★ same type
- APC2 p.Glu254fs Likely pathogenic ★ same type
- APC2 p.His734fs Likely pathogenic ★ same type
- APC2 p.Ser552fs Pathogenic ★ same type
- APC2 p.Ala841_Lys842insAlaAla Uncertain significance ★ same type
- APC2 p.Gly397_Gly398insGluGly Uncertain significance ★ same type
- APC2 c.1853+18dup Benign ★ 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/apc2-p-ala340fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown