CFI c.904+110del
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 700,714)
Conditions
1
CFI-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +110 | deep intronic (+110 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.21 | GERP -2.5 |
| Non-coding constraint | Z 0.51 | 1 kb window · o/e 0.95 · regional · uncalibrated |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 700,714). 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
- CFI
- Coding
- c.904+110del
- MANE Select
- NM_000204
- Type
- Deletion
- Location
- chr4:109757653 (GRCh38)
- Gene constraint
- LOEUF 1.076 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.50 · 2 PDB
Similar variants
- CFI p.Asn549fs Likely pathogenic ★★ same condition
- CFI p.Glu434fs Pathogenic/Likely pathogenic ★★ same condition
- CFI p.Gly263fs Pathogenic ★★ same condition
- CFI p.Arg187Ter Pathogenic/Likely pathogenic ★★ same condition
- CFI p.Arg474Ter Pathogenic/Likely pathogenic ★★ same condition
- CFI p.Asn103fs Pathogenic/Likely pathogenic ★★ same condition
- CFI p.Trp145Ter Pathogenic ★★ same condition
- CFI p.Ala153Thr Uncertain significance ★★ ⚠ 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/cfi-c-904-plus-110del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown