COL5A1 p.Pro765fs
c.2294del · VCV3721461
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Ehlers-Danlos syndrome, classic type, 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 26 of 66 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- COL5A1
- Protein
- p.Pro765fs
- Coding
- c.2294del
- MANE Select
- NM_000093
- Type
- Deletion
- Location
- chr9:134772795 (GRCh38)
- Gene constraint
- LOEUF 0.089 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 52.54 · 1 PDB
- Residue 765
- the 'disordered' region; the 'triple-helical region' region; a modified residue (hydroxyproline)
Disease context
Ehlers-Danlos syndrome, classic type, 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Classical Ehlers-Danlos syndrome (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Worldwide)
Similar variants
- COL5A1 p.Pro765Arg Uncertain significance ★ ⚠ same residue
- COL5A1 p.Pro765Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
- COL5A1 c.1937_1946del Pathogenic ★★ same condition
- COL5A1 c.5370+3_5370+6del Pathogenic/Likely pathogenic ★★ same condition
- COL5A1 p.Glu284fs Pathogenic ★★ same condition
- COL5A1 p.Gly502fs Pathogenic ★★ same condition
- COL5A1 p.Gly967fs Pathogenic ★★ same condition
- COL5A1 p.Leu674fs 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/col5a1-p-pro765fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown