COL7A1 p.Pro2152=
c.6456G>A · rs746447568 · VCV1038660
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0164%, mid)
Conditions
1
epidermolysis bullosa dystrophica
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Pangolin | Δ0.21 | loss · gain 0.02 · not in the SpliceAI release · independent |
| Constraint at this position | ||
| Conservation | phyloP 0.099 | GERP -1.6, phastCons 0.94 |
| Overall | ||
| CADD | 16.65 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0164%
Middle Eastern · 1/6,082 alleles
Filtering AF
0.00437%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00309%
Overall
0.00149%
24/1,613,986 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0164% | 6,082 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,414 |
| African / African-American | 0.00934% | 10,702 |
| East Asian | 0.00445% | 22,450 |
| South Asian | 0.0011% | 91,090 |
| European (non-Finnish) | 0.000593% | 168,576 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- COL7A1
- Protein
- p.Pro2152=
- Coding
- c.6456G>A
- MANE Select
- NM_000094
- dbSNP
- rs746447568
- Type
- single nucleotide variant
- Location
- chr3:48574488 (GRCh38)
- Gene constraint
- LOEUF 0.69 · pLI <0.01 (gnomAD)
- Residue 2152
- the 'triple-helical region' region; the 'disordered' region
Similar variants
- COL7A1 p.Pro2152Leu Conflicting classifications of pathogenicity ★ same residue
- COL7A1 p.Pro2152Ser Uncertain significance ★ same residue
- COL7A1 p.Pro2152Thr Likely benign ★ same residue
- COL7A1 c.1637-1G>A Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.2587+1G>A Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.2587+40G>A Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.266+1G>A Pathogenic/Likely pathogenic ★★ same condition
- COL7A1 c.2710+2T>C 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-p-pro2152 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown