AIP p.Gln239fs
c.717del · VCV4656364
Pathogenic
Multiple submitters
Classification
Pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
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. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AIP
- Protein
- p.Gln239fs
- Coding
- c.717del
- MANE Select
- NM_017900 · reported on NM_003977
- Type
- Deletion
- Location
- chr11:67490387 (GRCh38)
- Structure
- AlphaFold pLDDT 70.14 · 81 PDB
Similar variants
- AIP p.Gln239Arg Uncertain significance ★★ ⚠ same residue
- AIP p.Gln239Pro Uncertain significance ★ same residue
- AIP p.Lys273fs Pathogenic ★★ same condition
- AIP p.Arg325fs Uncertain significance ★★ same condition
- AIP p.Asn264del Uncertain significance ★★ same condition
- AIP p.Gly47_Arg54del Uncertain significance ★★ same condition
- AIP p.Lys316del Uncertain significance ★★ same condition
- AIP c.100-4del Likely benign ★★ 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/aip-p-gln239fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown