RAD51B p.Arg151=
c.453A>G · VCV3786401
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0556%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3 | GERP -0.51, phastCons 1 |
| Overall | ||
| CADD | 13.32 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0556%
South Asian · 50/89,868 alleles
Filtering AF
0.0433%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.039%
Overall
0.00424%
68/1,603,298 alleles · ultra-rare
exomes 67/1,450,978 · genomes 1/152,320 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0556% | 1,797 |
| Middle Eastern | 0.0167% | 5,990 |
| Remaining individualsnot grpmax-eligible | 0.00161% | 61,998 |
| European (non-Finnish) | 0.00136% | 73,295 |
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
- RAD51B
- Protein
- p.Arg151=
- Coding
- c.453A>G
- MANE Select
- NM_133510
- Type
- single nucleotide variant
- Location
- chr14:67885869 (GRCh38)
- Gene constraint
- LOEUF 1.247 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 79.50 · 5 PDB
Similar variants
- RAD51B p.Arg151Ile Uncertain significance ★ ⚠ same residue
- RAD51B p.Arg151Thr Uncertain significance ★ ⚠ same residue
- RAD51B c.315+2T>A Uncertain significance ★★ same type
- RAD51B p.Ala146Thr Uncertain significance ★★ ⚠ same type
- RAD51B p.Ala268Pro Uncertain significance ★★ ⚠ same type
- RAD51B p.Arg47Ter Uncertain significance ★★ same type
- RAD51B p.Pro326Ala Uncertain significance ★★ same type
- RAD51B p.Tyr68Cys 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/rad51b-p-arg151 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown