C2CD3 p.Arg844fs
c.2531del · VCV4711910
Pathogenic
Single submitter
Classification
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 14 of 33 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.31 | GERP 0.76, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- C2CD3
- Protein
- p.Arg844fs
- Coding
- c.2531del
- MANE Select
- NM_001286577
- Type
- Deletion
- Location
- chr11:74103180 (GRCh38)
- Gene constraint
- LOEUF 0.637 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 55.65
- Residue 844
- the c2 2 domain
Similar variants
- C2CD3 c.708-2_708-1del Likely pathogenic ★★ same type
- C2CD3 p.Ala913fs Pathogenic/Likely pathogenic ★★ same type
- C2CD3 c.5496-6del Benign/Likely benign ★★ same type
- C2CD3 c.5496-7_5496-6del Benign ★★ same type
- C2CD3 c.1962+1del Pathogenic ★ same type
- C2CD3 c.708-2del Likely pathogenic ★ same type
- C2CD3 p.Cys1114fs Pathogenic ★ same type
- C2CD3 p.Cys1255fs 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/c2cd3-p-arg844fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown