C3 p.Leu34fs
c.102del · rs2145438216 · VCV1458199
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 2 of 41 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.64 | GERP -3.5, phastCons 1 |
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.Leu34fs
- Coding
- c.102del
- MANE Select
- NM_000064
- dbSNP
- rs2145438216
- Type
- Deletion
- Location
- chr19:6719376 (GRCh38)
- Gene constraint
- LOEUF 0.541 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.84 · 80 PDB
- Residue 34
- a β-strand
Similar variants
- C3 p.Asp1245_Phe1246insTer Pathogenic ★★ same type
- C3 p.Ile1108_Lys1111del Uncertain significance ★★ same type
- C3 p.Arg668fs Pathogenic ★ same type
- C3 p.Asn1229fs Likely pathogenic ★ same type
- C3 p.Asn853fs Pathogenic ★ same type
- C3 p.Asn93fs Likely pathogenic ★ same type
- C3 p.Asp923_Gly924del Likely pathogenic ★ same type
- C3 p.Glu1640fs 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/c3-p-leu34fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown