AIP p.Ala297=
c.891C>A · rs35665586 · VCV305732
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.88%, afr)
Conditions
2
hereditary neoplastic syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.19 | GERP -0.49, phastCons 0.26 |
| Overall | ||
| CADD | 8.122 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.88%
African / African-American · 1,410/75,060 alleles
Filtering AF
1.8%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.76%
Overall
0.0967%
1,559/1,612,736 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.88% | 53 |
| Admixed American | 0.123% | 811 |
| Remaining individualsnot grpmax-eligible | 0.106% | 947 |
| South Asian | 0.0022% | 45,538 |
| European (non-Finnish) | 0.000593% | 168,566 |
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
- AIP
- Protein
- p.Ala297=
- Coding
- c.891C>A
- MANE Select
- NM_017900 · reported on NM_003977
- dbSNP
- rs35665586
- Type
- single nucleotide variant
- Location
- chr11:67490891 (GRCh38)
- Structure
- AlphaFold pLDDT 70.14 · 81 PDB
Similar variants
- AIP p.Ala297Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
- AIP p.Arg271Trp Pathogenic/Likely pathogenic ★★ same condition
- AIP p.Arg304Ter Pathogenic ★★ same condition
- AIP p.Arg81Ter Pathogenic ★★ same condition
- AIP p.Cys238Tyr Likely pathogenic ★★ same condition
- AIP p.Gln126Ter Pathogenic ★★ same condition
- AIP p.Gln14Ter Pathogenic ★★ same condition
- AIP p.Gln217Ter 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/aip-p-ala297 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown