DHX30 p.Val744=
c.2232G>C · rs34727372 · VCV3051655
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.349%, afr)
Conditions
1
DHX30-related disorder
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 | GERP -2.5, phastCons 1 |
| Overall | ||
| CADD | 0.729 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.349%
African / African-American · 262/75,060 alleles
Filtering AF
0.314%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.301%
Overall
0.0173%
280/1,614,202 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.349% | 286 |
| Admixed American | 0.0167% | 6,002 |
| Remaining individualsnot grpmax-eligible | 0.0128% | 7,814 |
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
- DHX30
- Protein
- p.Val744=
- Coding
- c.2232G>C
- MANE Select
- NM_138615
- dbSNP
- rs34727372
- Type
- single nucleotide variant
- Location
- chr3:47847902 (GRCh38)
- Gene constraint
- LOEUF 0.08 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 81.09 · 1 PDB
- Residue 744
- the helicase c-terminal domain
Disease context
DHX30-related disorder
Similar variants
- DHX30 p.Arg782Trp Pathogenic ★★ same condition
- DHX30 p.Gly460Asp Likely pathogenic ★ same condition
- DHX30 p.Thr739Ile Likely pathogenic ★ same condition
- DHX30 p.Ser225Cys Uncertain significance ★ ⚠ same condition
- DHX30 p.Thr593Ile Uncertain significance ⚠ same condition
- DHX30 p.Arg894= Likely benign same condition
- DHX30 p.His695= Likely benign same condition
- DHX30 p.Lys714= Likely benign 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/dhx30-p-val744 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown