DHX32 p.Arg129=
c.387G>C · rs767407807 · VCV2149827
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00666%, amr)
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 -1.8 | GERP -3.6 |
| Overall | ||
| CADD | 8.123 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00666%
Admixed American · 4/60,030 alleles
Filtering AF
0.00225%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00135%
Overall
0.00041%
6/1,461,888 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00666% | 15,008 |
| European (non-Finnish) | 0.000169% | 590,016 |
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
- DHX32
- Protein
- p.Arg129=
- Coding
- c.387G>C
- MANE Select
- NM_018180
- dbSNP
- rs767407807
- Type
- single nucleotide variant
- Location
- chr10:125867079 (GRCh38)
- Gene constraint
- LOEUF 0.919 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.34
- Residue 129
- the helicase atp-binding domain
Similar variants
- DHX32 p.Arg129Gln Uncertain significance ★★ ⚠ same residue
- DHX32 p.Arg129Trp Uncertain significance ★ ⚠ same residue
- DHX32 p.Ala251Val Uncertain significance ★★ ⚠ same type
- DHX32 p.Ala93Thr Uncertain significance ★★ ⚠ same type
- DHX32 p.Arg261Cys Uncertain significance ★★ ⚠ same type
- DHX32 p.Arg261His Uncertain significance ★★ ⚠ same type
- DHX32 p.Asn239Lys Uncertain significance ★★ ⚠ same type
- DHX32 p.Asn297His 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/dhx32-p-arg129 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown