Is C3 p.Phe830del (c.2485TTC[1]) pathogenic?

C3 p.Phe830del (c.2485TTC[1]) is classified Uncertain significance in C3 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-02-01). No gnomAD frequency available for this variant; Associated with atypical hemolytic-uremic syndrome.

What condition is associated with C3 p.Phe830del (c.2485TTC[1])?

C3 p.Phe830del (c.2485TTC[1]) is associated with atypical hemolytic-uremic syndrome (ClinVar).

How common is C3 p.Phe830del (c.2485TTC[1]) in the general population?

C3 p.Phe830del (c.2485TTC[1]) is no gnomAD frequency available for this variant (gnomAD).

How is Atypical hemolytic uremic syndrome inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

C3 p.Phe830del

c.2485TTC[1] · rs2512248140 · VCV1712462

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

atypical hemolytic-uremic syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.7	GERP -0.36, phastCons 1

Population frequency

dbSNP / gnomAD

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.Phe830del
Coding: c.2485TTC[1]
MANE Select: NM_000064
dbSNP: rs2512248140
Type: Microsatellite
Location: chr19:6697745 (GRCh38)
Gene constraint: LOEUF 0.541 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.84 · 80 PDB
Residue 830: a β-strand

Full C3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

atypical hemolytic-uremic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For 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

C3 c.2951-5_2951-3del Conflicting classifications of pathogenicity ★ same condition
C3 p.Phe830Val Uncertain significance ★ ⚠ same residue
C3 p.Arg161Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
C3 p.Arg592Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
C3 p.Arg592Trp Likely pathogenic ★★ ⚠ same condition
C3 p.Ile1157Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
C3 p.Trp1034Arg Likely pathogenic ★★ same condition
C3 c.1269+4C>A 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/c3-p-phe830del (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown