AIP c.645+8del
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,612,740)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +8 | near-intronic (+8 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.6 | GERP 1.4, phastCons 0.77 |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,612,740). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- AIP
- Coding
- c.645+8del
- MANE Select
- NM_017900 · reported on NM_003977
- dbSNP
- rs2495406083
- Type
- Deletion
- Location
- chr11:67490221 (GRCh38)
- Structure
- AlphaFold pLDDT 70.14 · 81 PDB
Similar variants
- AIP p.Gln239fs Pathogenic ★★ same type
- AIP p.Lys273fs Pathogenic ★★ same type
- AIP p.Pro167_Trp168insTer Pathogenic/Likely pathogenic ★★ same type
- AIP p.Arg325fs Uncertain significance ★★ same type
- AIP p.Asn264del Uncertain significance ★★ same type
- AIP p.Gly47_Arg54del Uncertain significance ★★ same type
- AIP p.Lys316del Uncertain significance ★★ same type
- AIP c.100-4del Likely 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/aip-c-645-plus-8del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown