RAD54B
Chr 8RAD54 homolog B
Also known as: RDH54
The protein is an ATPase that functions in homologous recombination for repairing DNA double-strand breaks and guides RAD51 during the DNA repair process. Mutations cause colon cancer and non-Hodgkin lymphoma through somatic inheritance patterns. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its association with somatic rather than germline developmental disorders.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
186 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 | 0 | 1 | 37 | 0 | 38 |
Likely Pathogenic | 1 | 0 | 1 | 0 | 2 |
VUS | 0 | 90 | 2 | 0 | 92 |
Likely Benign | 1 | 8 | 0 | 1 | 10 |
Benign | 0 | 3 | 20 | 3 | 26 |
| Total | 2 | 102 | 60 | 4 | 168 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RAD54B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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