DHX30 p.Val1094=
c.3282G>T · rs143353218 · VCV1335518
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.33 | donor loss, 3 bp away · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.7 | GERP -1.6, phastCons 1 |
| Overall | ||
| CADD | 6.333 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,062 alleles
Overall
6.84e-05%
1/1,461,756 alleles · ultra-rare
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.Val1094=
- Coding
- c.3282G>T
- MANE Select
- NM_138615
- dbSNP
- rs143353218
- Type
- single nucleotide variant
- Location
- chr3:47849720 (GRCh38)
- Gene constraint
- LOEUF 0.08 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 81.09 · 1 PDB
Similar variants
- DHX30 p.Arg782Gln Pathogenic/Likely pathogenic ★★ same type
- DHX30 p.Arg782Trp Pathogenic ★★ same type
- DHX30 p.Arg785Cys Pathogenic/Likely pathogenic ★★ same type
- DHX30 p.Arg785His Pathogenic/Likely pathogenic ★★ same type
- DHX30 c.2575+5G>A Uncertain significance ★★ same type
- DHX30 p.Arg1180Gln Uncertain significance ★★ ⚠ same type
- DHX30 p.Arg412Cys Uncertain significance ★★ ⚠ same type
- DHX30 p.Arg586Gly 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/dhx30-p-val1094 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown