COL5A1 c.4646dupG
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
Ehlers-Danlos 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 11 | GERP 1.8, phastCons 1 |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. 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
- COL5A1
- Coding
- c.4646dupG
- MANE Select
- NM_000093
- dbSNP
- rs2132879262
- Type
- Duplication
- Location
- chr9:134823414 (GRCh38)
- Gene constraint
- LOEUF 0.089 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 52.54 · 1 PDB
Similar variants
- COL5A1 p.Glu1571fs Pathogenic ★★ same condition
- COL5A1 p.Gly1351fs Pathogenic/Likely pathogenic ★★ same condition
- COL5A1 p.Pro1271fs Likely pathogenic ★ same condition
- COL5A1 c.2034+1G>A Pathogenic ★★ same condition
- COL5A1 c.2952+2_2952+3del Pathogenic/Likely pathogenic ★★ same condition
- COL5A1 c.655-2A>T Likely pathogenic ★★ same condition
- COL5A1 p.Arg1133Ter Pathogenic ★★ same condition
- COL5A1 p.Arg792Ter 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/col5a1-c-4646dupg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown