Is CFB p.Arg379= (c.1137C>T) pathogenic?

CFB p.Arg379= (c.1137C>T) is classified Benign/Likely benign in CFB (ClinVar, Multiple submitters, 11 submitters; last evaluated 2026-09-17). Common (popmax 9.53%, mid) — too common for a highly-penetrant pathogenic allele; Associated with atypical hemolytic-uremic syndrome.

What condition is associated with CFB p.Arg379= (c.1137C>T)?

CFB p.Arg379= (c.1137C>T) is associated with atypical hemolytic-uremic syndrome, kidney disorder, atypical hemolytic-uremic syndrome with B factor anomaly (ClinVar).

How is Atypical hemolytic uremic syndrome inherited?

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

CFB p.Arg379=

Q: How common is CFB p.Arg379= (c.1137C>T) in the general population?

CFB p.Arg379= (c.1137C>T) is common (popmax 9.53%, mid) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.1137C>T · rs45600936 · VCV356284

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 11 submitters

gnomAD v4.1

Common

common (popmax 9.53%, mid) — too common for a highly-penetrant pathogenic allele

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 · no allele here is in the release
Constraint at this position
Conservation	phyloP -2.6	GERP -3.8
Overall
CADD	8.062	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 9.53% Middle Eastern · 575/6,036 alleles

Filtering AF 8.88% ClinGen BA1/BS1 input FAF95, joint · FAF99 8.63%

Overall 1.01% 16,209/1,612,788 alleles · common exomes 14,754/1,460,640 · genomes 1,455/152,148 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	9.53%	10
South Asian	2.41%	42
Ashkenazi Jewishnot grpmax-eligible	2.23%	45
Remaining individualsnot grpmax-eligible	1.39%	72
Admixed American	1.06%	94
African / African-American	0.988%	101
European (non-Finnish)	0.884%	113
East Asian	0.114%	880
Finnishnot grpmax-eligible	0.0859%	1,164

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: CFB
Protein: p.Arg379=
Coding: c.1137C>T
MANE Select: NM_001710
dbSNP: rs45600936
Type: single nucleotide variant
Location: chr6:31948930 (GRCh38)
Gene constraint: LOEUF 0.719 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.54 · 28 PDB
Residue 379: an α-helix; the vwfa domain

Full CFB 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

Also linked: kidney disorder atypical hemolytic-uremic syndrome with B factor anomaly age related macular degeneration 14 complement factor b deficiency

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

CFB p.Arg379Cys Uncertain significance ★★ same residue
CFB p.Arg379His Uncertain significance ★ ⚠ same residue
CFB c.-3G>A Uncertain significance ★★ same condition
CFB p.Arg138Gln Uncertain significance ★★ ⚠ same condition
CFB p.Arg138Trp Uncertain significance ★★ ⚠ same condition
CFB p.Arg203Gln 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-arg379 (accessed [today's date]).

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