RAD52 p.Asp149=
c.447C>T · rs56061523 · VCV3151069
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.167%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4.2 | GERP -3.5 |
| Overall | ||
| CADD | 0.138 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.167%
African / African-American · 125/75,048 alleles
Filtering AF
0.143%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.134%
Overall
0.0118%
191/1,614,080 alleles · rare
exomes 117/1,461,780 · genomes 74/152,300 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.167% | 600 |
| Remaining individualsnot grpmax-eligible | 0.0208% | 4,808 |
| Admixed American | 0.0183% | 5,456 |
| Middle Eastern | 0.0165% | 6,048 |
| South Asian | 0.0143% | 7,006 |
| East Asian | 0.00891% | 11,222 |
| European (non-Finnish) | 0.00203% | 49,166 |
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
- RAD52
- Protein
- p.Asp149=
- Coding
- c.447C>T
- MANE Select
- NM_134424
- dbSNP
- rs56061523
- Type
- single nucleotide variant
- Location
- chr12:927165 (GRCh38)
- Gene constraint
- LOEUF 1.185 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.52 · 11 PDB
- Residue 149
- an α-helix
Similar variants
- RAD52 p.Gln221Glu Benign ★★ same type
- RAD52 p.Tyr415Ter Likely benign ★★ same type
- RAD52 c.84+1G>A Uncertain significance ★ same type
- RAD52 p.Arg180Cys Uncertain significance ★ ⚠ same type
- RAD52 p.Arg204Thr Uncertain significance ★ ⚠ same type
- RAD52 p.Arg271Trp Uncertain significance ★ ⚠ same type
- RAD52 p.Asn99Ser Uncertain significance ★ ⚠ same type
- RAD52 p.Gln30Pro Uncertain significance ★ ⚠ same type
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/rad52-p-asp149 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown