C3 p.Asn93fs
c.276del · VCV3584194
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
3
atypical hemolytic-uremic syndrome with C3 anomaly
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 3 of 41 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.69 | GERP 0.54, phastCons 0.61 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- C3
- Protein
- p.Asn93fs
- Coding
- c.276del
- MANE Select
- NM_000064
- Type
- Deletion
- Location
- chr19:6718404 (GRCh38)
- Gene constraint
- LOEUF 0.541 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.84 · 80 PDB
Similar variants
- C3 p.Asp1245_Phe1246insTer Pathogenic ★★ same condition
- C3 p.Arg668fs Pathogenic ★ same condition
- C3 p.Asn1229fs Likely pathogenic ★ same condition
- C3 p.Glu1640fs Likely pathogenic ★ same condition
- C3 p.Glu299fs Likely pathogenic ★ same condition
- C3 p.Phe872fs Likely pathogenic ★ same condition
- C3 p.Thr1333fs Pathogenic ★ same condition
- C3 p.Val57fs 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/c3-p-asn93fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown