RAD51B p.Pro276=
c.828A>T · VCV3429632
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00267%, 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 0.94 | GERP -0.095, phastCons 0.99 |
| Overall | ||
| CADD | 8.048 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00267%
African / African-American · 2/74,788 alleles
Filtering AF
0.000444%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000211%
Overall
0.00062%
10/1,613,382 alleles · very rare
exomes 7/1,461,328 · genomes 3/152,054 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00267% | 37,394 |
| European (non-Finnish) | 0.000678% | 147,448 |
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.Pro276=
- Coding
- c.828A>T
- MANE Select
- NM_133510
- Type
- single nucleotide variant
- Location
- chr14:68291955 (GRCh38)
- Gene constraint
- LOEUF 1.247 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 79.50 · 5 PDB
Similar variants
- 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
- RAD51B c.1037-95C>T Benign ★★ same type
- RAD51B c.199-21C>T Benign ★★ 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-pro276 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown