COL4A4 c.4523del
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Alport syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.71 | GERP -2 |
| Non-coding constraint | Z 3.12 | 1 kb window · o/e 0.75 · regional · uncalibrated |
Variant & gene context
- Gene
- COL4A4
- Coding
- c.4523del
- MANE Select
- NM_000092
- Type
- Deletion
- Location
- chr2:227008304 (GRCh38)
- Gene constraint
- LOEUF 0.607 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 49.03 · 2 PDB
Disease context
Alport syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Alport syndrome (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant
- Onset
- Adolescent, Adult, Childhood, Elderly
Similar variants
- COL4A4 c.1321_1369+3del Pathogenic/Likely pathogenic ★★ same condition
- COL4A4 c.2385del Pathogenic/Likely pathogenic ★★ same condition
- COL4A4 c.914_930+29del Pathogenic/Likely pathogenic ★★ same condition
- COL4A4 p.Ala1573fs Pathogenic/Likely pathogenic ★★ same condition
- COL4A4 p.Ala793fs Pathogenic/Likely pathogenic ★★ same condition
- COL4A4 p.Arg830fs Pathogenic/Likely pathogenic ★★ same condition
- COL4A4 p.Asp383fs Pathogenic ★★ same condition
- COL4A4 p.Cys1375fs Pathogenic/Likely 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/col4a4-c-4523del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown