RAD51 p.Ile136=
c.408C>A · rs759998508 · VCV2049158
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.167%, eas)
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 1.2 | GERP -0.16, phastCons 1 |
| Overall | ||
| CADD | 9.833 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.167%
East Asian · 75/44,898 alleles
Filtering AF
0.137%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.125%
Overall
0.00471%
76/1,613,890 alleles · rare
exomes 73/1,461,720 · genomes 3/152,170 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.167% | 599 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,486 |
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
- RAD51
- Protein
- p.Ile136=
- Coding
- c.408C>A
- MANE Select
- NM_002875
- dbSNP
- rs759998508
- Type
- single nucleotide variant
- Location
- chr15:40709089 (GRCh38)
- Gene constraint
- LOEUF 0.467 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 91.59 · 52 PDB
- Residue 136
- an α-helix
Similar variants
- RAD51 p.Ile136Met Uncertain significance ★ ⚠ same residue
- RAD51 p.Ala293Thr Pathogenic/Likely pathogenic ★★ same type
- RAD51 p.Glu258Lys Likely pathogenic ★★ same type
- RAD51 p.Ala157Thr Uncertain significance ★★ ⚠ same type
- RAD51 p.Ala209Thr Uncertain significance ★★ same type
- RAD51 p.Ala256Thr Uncertain significance ★★ ⚠ same type
- RAD51 p.Ala328Ser Uncertain significance ★★ ⚠ same type
- RAD51 p.Ala79Val 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/rad51-p-ile136 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown