AIM2 p.Asn265=
c.795T>C · rs34419602 · VCV720287
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.822%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · A>T here scores Δ0.29 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.19 | GERP -2.8 |
| Overall | ||
| CADD | 0.855 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.822%
African / African-American · 616/74,896 alleles
Filtering AF
0.769%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.747%
Overall
0.0418%
673/1,611,598 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.822% | 122 |
| Middle Eastern | 0.0496% | 2,015 |
| Admixed American | 0.0435% | 2,297 |
| Remaining individualsnot grpmax-eligible | 0.0417% | 2,400 |
| European (non-Finnish) | 0.00017% | 589,359 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- AIM2
- Protein
- p.Asn265=
- Coding
- c.795T>C
- MANE Select
- NM_004833
- dbSNP
- rs34419602
- Type
- single nucleotide variant
- Location
- chr1:159065931 (GRCh38)
- Gene constraint
- LOEUF 1.421 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.18 · 6 PDB
- Residue 265
- the hin-200 domain; a β-strand
Similar variants
- AIM2 c.396+6A>T Benign ★★ same type
- AIM2 p.Glu83= Benign ★★ same type
- AIM2 p.Pro250= Benign ★★ same type
- AIM2 p.Ala112Ser Uncertain significance ★ ⚠ same type
- AIM2 p.Ala230Val Uncertain significance ★ ⚠ same type
- AIM2 p.Arg115Gly Uncertain significance ★ ⚠ same type
- AIM2 p.Arg205Thr Uncertain significance ★ ⚠ same type
- AIM2 p.Arg211Ile Uncertain significance ★ ⚠ 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/aim2-p-asn265 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown