TNFRSF13B
Chr 17ADARTNF receptor superfamily member 13B
Also known as: CD267, CVID, CVID2, IGAD2, RYZN, TACI, TNFRSF14B
The TNFRSF13B protein is a lymphocyte-specific receptor that binds APRIL and BAFF ligands to regulate B- and T-cell function and humoral immunity through activation of transcription factors including NF-AT, NF-kappa-B, and AP-1. Mutations cause common variable immunodeficiency and IgA deficiency, with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene shows high tolerance to loss-of-function variants (high LOEUF score), suggesting variable penetrance or that some variants may act through alternative mechanisms.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
496 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 23 | 0 | 104 | 0 | 127 |
Likely Pathogenic | 9 | 0 | 1 | 0 | 10 |
VUS | 14 | 169 | 19 | 4 | 206 |
Likely Benign | 0 | 8 | 29 | 74 | 111 |
Benign | 0 | 2 | 11 | 5 | 18 |
Conflicting | — | 23 | |||
| Total | 46 | 179 | 164 | 83 | 495 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TNFRSF13B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools