COL7A1 p.Pro2385=
c.7155A>G · VCV3768878
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00439%, sas)
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 |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.1 | GERP -4, phastCons 0.003 |
| Overall | ||
| CADD | 0.405 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00439%
South Asian · 4/91,070 alleles
Filtering AF
0.00143%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000891%
Overall
0.000248%
4/1,613,744 alleles · very rare
exomes 4/1,461,630 · genomes 0/152,114 · joint denominator
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.Pro2385=
- Coding
- c.7155A>G
- MANE Select
- NM_000094
- Type
- single nucleotide variant
- Location
- chr3:48571110 (GRCh38)
- Gene constraint
- LOEUF 0.69 · pLI <0.01 (gnomAD)
- Residue 2385
- the 'triple-helical region' region; the 'disordered' region
Similar variants
- COL7A1 p.Pro2385Ser Uncertain significance ★★ same residue
- COL7A1 p.Pro2385fs Pathogenic ★★ same residue
- COL7A1 c.1240+1G>T Likely pathogenic ★★ same type
- COL7A1 c.1637-1G>A Pathogenic/Likely pathogenic ★★ same type
- COL7A1 c.1906+1G>T Likely pathogenic ★★ same type
- COL7A1 c.2171-2A>G Likely pathogenic ★★ same type
- COL7A1 c.2587+1G>A Pathogenic/Likely pathogenic ★★ same type
- COL7A1 c.2587+40G>A Pathogenic/Likely pathogenic ★★ same type
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-pro2385 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown