AIP c.468+111C>T
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 46.8%, amr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +111 | deep intronic (+111 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -2.2 | GERP -1.8 |
| Overall | ||
| CADD | 0.064 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
46.8%
Admixed American · 24,905/53,178 alleles
Filtering AF
46.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 46.1%
Overall
36.7%
473,953/1,291,254 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 46.8% | 2 |
| European (non-Finnish) | 40.1% | 2 |
| Amishnot grpmax-eligible | 35.1% | 3 |
| Remaining individualsnot grpmax-eligible | 34.8% | 3 |
| Middle Eastern | 33.6% | 3 |
| Finnishnot grpmax-eligible | 31.1% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 25.9% | 4 |
| South Asian | 24.5% | 4 |
| African / African-American | 21% | 5 |
| East Asian | 15.6% | 6 |
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
- Coding
- c.468+111C>T
- MANE Select
- NM_017900 · reported on NM_003977
- dbSNP
- rs4084113
- Type
- single nucleotide variant
- Location
- chr11:67489566 (GRCh38)
- Structure
- AlphaFold pLDDT 70.14 · 81 PDB
Similar variants
- AIP p.Arg271Trp Pathogenic/Likely pathogenic ★★ same type
- AIP p.Arg304Ter Pathogenic ★★ same type
- AIP p.Arg81Ter Pathogenic ★★ same type
- AIP p.Cys238Tyr Likely pathogenic ★★ same type
- AIP p.Gln126Ter Pathogenic ★★ same type
- AIP p.Gln14Ter Pathogenic ★★ same type
- AIP p.Gln217Ter Pathogenic ★★ same type
- AIP p.Gln229Ter Pathogenic/Likely pathogenic ★★ 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/aip-c-468-plus-111c-t (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown