COL7A1 c.7760del
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
recessive dystrophic epidermolysis bullosa
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 -1.6 | GERP -3.7 |
| Non-coding constraint | Z 5.22 | 1 kb window · o/e 0.69 · regional · uncalibrated |
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
- COL7A1
- Coding
- c.7760del
- MANE Select
- NM_000094
- dbSNP
- rs2107638590
- Type
- Deletion
- Location
- chr3:48568533 (GRCh38)
- Gene constraint
- LOEUF 0.69 · pLI <0.01 (gnomAD)
Disease context
recessive dystrophic epidermolysis bullosa — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Neonatal
- Prevalence
- 1-9 / 1 000 000 (United States)
Similar variants
- COL7A1 c.3832_3833del Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.4199del Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.4519-2del Likely pathogenic ★★ same condition
- COL7A1 c.5304_5307+1del Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.6349-2del Likely pathogenic ★★ same condition
- COL7A1 c.6751-2_6751-1del Pathogenic ★★ same condition
- COL7A1 c.8357_8358+4del Pathogenic ★★ same condition
- COL7A1 p.Ala121fs 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/col7a1-c-7760del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown