Is C4B c.(?_3231 pathogenic?

C4B c.(?3231 is classified Pathogenic in C4B (ClinVar, Single submitter, 1 submitter; last evaluated 2020-10-04). Associated with complement component 4b deficiency.

What condition is associated with C4B c.(?_3231?

C4B c.(?_3231 is associated with complement component 4b deficiency (ClinVar).

C4B c.(?_3231

Q: How is Immunodeficiency due to a classical component pathway complement deficiency inherited?

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

VCV987922

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

complement component 4b deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type.

Variant & gene context

Gene: C4B
Coding: c.(?_3231
MANE Select: NM_007293 · reported on NM_001002029
Type: Deletion
Structure: AlphaFold pLDDT 83.56 · 12 PDB

Full C4B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

complement component 4b deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Immunodeficiency due to a classical component pathway complement deficiency (Orphanet):

Inheritance: Autosomal recessive

Similar variants

C4B c.3230+1G>A Likely pathogenic ★ same condition
C4B c.3676+1G>A Likely pathogenic ★ same condition
C4B c.3504+32G>A Uncertain significance ★ same condition
C4B p.Ala1148Thr Uncertain significance ★ ⚠ same condition
C4B p.Arg1072Trp 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/c4b-c-3231 (accessed [today's date]).

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