C3 p.Lys408fs
c.1196_1223dup · rs2512263954 · VCV2698807
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 11 of 41 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.9 | GERP -3.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- C3
- Protein
- p.Lys408fs
- Coding
- c.1196_1223dup
- MANE Select
- NM_000064
- dbSNP
- rs2512263954
- Type
- Duplication
- Location
- chr19:6712302 (GRCh38)
- Gene constraint
- LOEUF 0.541 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.84 · 80 PDB
- Residue 408
- a β-strand
Similar variants
- C3 p.Asn103fs Pathogenic/Likely pathogenic ★★ same type
- C3 p.Leu125fs Pathogenic/Likely pathogenic ★★ same type
- C3 c.-3_-2dup Benign/Likely benign ★★ same type
- C3 p.Glu1040fs Pathogenic ★ same type
- C3 p.Leu894fs Pathogenic ★ same type
- C3 p.Lys688fs Likely pathogenic ★ same type
- C3 p.Thr1272fs Likely pathogenic ★ same type
- C3 c.1480-14_1608dup Uncertain significance ★ 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/c3-p-lys408fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown