COL6A2 p.Ala884Val
c.2651C>T · VCV3355499
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
COL6A2-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.342 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.5 | GERP 1.3, phastCons 1 |
| Regional constraint | o/e 1.16 | unconstrained · MANE · 16 kb · p 1.4e-07 · regional, not allelic |
| Overall | ||
| CADD | 25.2 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- COL6A2
- Protein
- p.Ala884Val
- Coding
- c.2651C>T
- MANE Select
- NM_001849 · reported on NM_058174
- Type
- single nucleotide variant
- Location
- chr21:46129385 (GRCh38)
- Gene constraint
- LOEUF 0.895 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.58 · 1 PDB
- Residue 884
- the vwfa 3 domain; a β-strand; the 'nonhelical region' region
Disease context
COL6A2-related disorder
Similar variants
- COL6A2 p.Ala884Thr Conflicting classifications of pathogenicity ★ same residue
- COL6A2 c.1396-1G>A Pathogenic/Likely pathogenic ★★ same condition
- COL6A2 c.1970-9G>A Pathogenic/Likely pathogenic ★★ same condition
- COL6A2 c.2422+1G>A Pathogenic ★★ same condition
- COL6A2 c.900+1G>T Pathogenic ★★ same condition
- COL6A2 c.955-1G>C Pathogenic ★★ same condition
- COL6A2 p.Asp621Asn Pathogenic/Likely pathogenic ★★ same condition
- COL6A2 p.Gly271Asp 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/col6a2-p-ala884val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown