Is C3 p.Ser810= (c.2430G>A) pathogenic?

C3 p.Ser810= (c.2430G>A) is classified Benign/Likely benign in C3 (ClinVar, Multiple submitters, 9 submitters; last evaluated 2026-02-02). Common (popmax 15.5%, afr) — too common for a highly-penetrant pathogenic allele; Associated with atypical hemolytic-uremic syndrome with C3 anomaly.

What condition is associated with C3 p.Ser810= (c.2430G>A)?

C3 p.Ser810= (c.2430G>A) is associated with atypical hemolytic-uremic syndrome with C3 anomaly, age related macular degeneration 9, complement component 3 deficiency (ClinVar).

C3 p.Ser810=

Q: How common is C3 p.Ser810= (c.2430G>A) in the general population?

C3 p.Ser810= (c.2430G>A) is common (popmax 15.5%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.2430G>A · rs2230207 · VCV330304

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 9 submitters

gnomAD v4.1

Common

common (popmax 15.5%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

atypical hemolytic-uremic syndrome with C3 anomaly

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -11	GERP -3.5
Overall
CADD	0.235	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 15.5% African / African-American · 11,479/74,148 alleles

Filtering AF 15.2% ClinGen BA1/BS1 input FAF95, joint · FAF99 15.1%

Overall 0.886% 14,089/1,590,206 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	15.5%	6
Admixed American	1.15%	87
Remaining individualsnot grpmax-eligible	1.15%	87
Middle Eastern	1.05%	95
Ashkenazi Jewishnot grpmax-eligible	0.547%	183
East Asian	0.291%	344
European (non-Finnish)	0.0694%	1,441
South Asian	0.053%	1,886
Finnishnot grpmax-eligible	0.00159%	63,002

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: C3
Protein: p.Ser810=
Coding: c.2430G>A
MANE Select: NM_000064
dbSNP: rs2230207
Type: single nucleotide variant
Location: chr19:6702137 (GRCh38)
Gene constraint: LOEUF 0.541 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.84 · 80 PDB
Residue 810: a β-strand

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

Disease context

atypical hemolytic-uremic syndrome with C3 anomaly — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: age related macular degeneration 9 complement component 3 deficiency

Similar variants

C3 p.Ser810Leu Uncertain significance ★ ⚠ same residue
C3 c.1003+1G>A Pathogenic/Likely pathogenic ★★ same condition
C3 c.2863+1G>T Likely pathogenic ★★ same condition
C3 c.4030-2A>G Likely pathogenic ★★ same condition
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.Arg764Ter Pathogenic/Likely 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-ser810 (accessed [today's date]).

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