CFB p.Arg32Ter
c.94_95delinsTA · VCV4280417
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Rare
Conditions
1
atypical hemolytic-uremic syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -2.4 | GERP -3.5 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CFB
- Protein
- p.Arg32Ter
- Coding
- c.94_95delinsTA
- MANE Select
- NM_001710
- Type
- Indel
- Location
- chr6:31946402 (GRCh38)
- Gene constraint
- LOEUF 0.719 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.54 · 28 PDB
- Residue 32
- a UniProt-annotated variant site (in allele s; may be associated with a reduced risk for age-related macular degeneration); a UniProt-annotated variant site (in)
Disease context
atypical hemolytic-uremic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Atypical hemolytic uremic syndrome (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Onset
- All ages
- Prevalence
- 1-9 / 1 000 000 (United States)
Similar variants
- CFB p.Arg32Trp Benign/Likely benign ★★ same residue
- CFB p.Arg32Gly Uncertain significance ★ ⚠ same residue
- CFB p.Arg138Gln Uncertain significance ★★ ⚠ same condition
- CFB p.Arg138Trp Uncertain significance ★★ ⚠ same condition
- CFB p.Arg203Gln Uncertain significance ★★ same condition
- CFB p.Arg379Cys Uncertain significance ★★ same condition
- CFB p.Gln256Ter Uncertain significance ★★ same condition
- CFB p.Glu601Lys Uncertain significance ★★ ⚠ 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/cfb-p-arg32ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown