RAD51 p.Val142=
c.426C>A · rs749908612 · VCV3222852
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00833%, amr)
Conditions
1
Inborn genetic diseases
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 -0.3 | GERP -3.4, phastCons 0.004 |
| Overall | ||
| CADD | 1.299 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00833%
Admixed American · 5/59,996 alleles
Filtering AF
0.00323%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00207%
Overall
0.00031%
5/1,613,068 alleles · very rare
exomes 5/1,460,752 · genomes 0/152,316 · joint denominator
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.Val142=
- Coding
- c.426C>A
- MANE Select
- NM_002875
- dbSNP
- rs749908612
- Type
- single nucleotide variant
- Location
- chr15:40709107 (GRCh38)
- Gene constraint
- LOEUF 0.467 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 91.59 · 52 PDB
- Residue 142
- an α-helix
Similar variants
- RAD51 p.Ala157Thr Uncertain significance ★★ ⚠ same condition
- RAD51 p.Ala209Thr Uncertain significance ★★ same condition
- RAD51 p.Ala256Thr Uncertain significance ★★ ⚠ same condition
- RAD51 p.Ala328Ser Uncertain significance ★★ ⚠ same condition
- RAD51 p.Ala79Val Uncertain significance ★★ ⚠ same condition
- RAD51 p.Arg130Gly Uncertain significance ★★ ⚠ same condition
- RAD51 p.Arg150Trp Uncertain significance ★★ ⚠ same condition
- RAD51 p.Arg254Gln Uncertain significance ★★ same condition
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-val142 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown