COL6A3 p.Ala960fs
c.2879del · VCV3337962
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 44 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -12 | GERP -3.4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- COL6A3
- Protein
- p.Ala960fs
- Coding
- c.2879del
- MANE Select
- NM_004369
- Type
- Deletion
- Location
- chr2:237376963 (GRCh38)
- Gene constraint
- LOEUF 0.564 · pLI <0.01 (gnomAD)
- Residue 960
- the 'nonhelical region' region; the vwfa 5 domain
Similar variants
- COL6A3 p.Ala960Gly Conflicting classifications of pathogenicity ★ same residue
- COL6A3 c.7094del Pathogenic ★★ same type
- COL6A3 p.Ala2978fs Pathogenic ★★ same type
- COL6A3 p.Gln1375fs Pathogenic ★★ same type
- COL6A3 p.Gly1827fs Pathogenic ★★ same type
- COL6A3 p.Gly254fs Pathogenic/Likely pathogenic ★★ same type
- COL6A3 p.Phe2599fs Pathogenic ★★ same type
- COL6A3 p.Ser453fs 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/col6a3-p-ala960fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown