RAD52
Chr 12RAD52 DNA repair protein
This protein is essential for DNA double-strand break repair and homologous recombination, binding single-stranded DNA ends and promoting the annealing of complementary DNA strands while stimulating RAD51 recombinase activity. Mutations cause autosomal recessive primary immunodeficiency with microcephaly and growth retardation, affecting immune system development and neurological growth. The gene is highly constrained against loss-of-function variants, indicating that complete loss of RAD52 function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
178 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 | 0 | 61 | 0 | 61 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 1 | 34 | 21 | 0 | 56 |
Likely Benign | 0 | 3 | 7 | 1 | 11 |
Benign | 0 | 1 | 1 | 0 | 2 |
| Total | 1 | 38 | 94 | 1 | 134 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RAD52 · 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