DHX34 p.Pro497=
c.1491C>T · rs114512655 · VCV712251
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.2%, afr)
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 -20 | GERP -4.2 |
| Overall | ||
| CADD | 0.966 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.2%
African / African-American · 899/75,010 alleles
Filtering AF
1.13%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.11%
Overall
0.0662%
1,069/1,613,794 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.2% | 83 |
| Remaining individualsnot grpmax-eligible | 0.115% | 868 |
| Middle Eastern | 0.0992% | 1,008 |
| Admixed American | 0.0634% | 1,578 |
| South Asian | 0.0165% | 6,071 |
| East Asian | 0.00446% | 22,422 |
| European (non-Finnish) | 0.00314% | 31,891 |
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
- DHX34
- Protein
- p.Pro497=
- Coding
- c.1491C>T
- MANE Select
- NM_014681
- dbSNP
- rs114512655
- Type
- single nucleotide variant
- Location
- chr19:47362591 (GRCh38)
- Gene constraint
- LOEUF 1.047 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.85
- Residue 497
- a UniProt-annotated variant site (found in a patient with a neurodevelopmental disorder; uncertain significance); the helicase c-terminal domain
Similar variants
- DHX34 p.Pro497Thr Uncertain significance ★ ⚠ same residue
- DHX34 p.Asn682Thr Uncertain significance ★★ ⚠ same type
- DHX34 p.Ser624Arg Uncertain significance ★★ ⚠ same type
- DHX34 p.Thr973Met Uncertain significance ★★ ⚠ same type
- DHX34 c.3299-3T>C Benign ★★ same type
- DHX34 c.3299-6C>T Likely benign ★★ same type
- DHX34 p.Ala127Val Likely benign ★★ ⚠ same type
- DHX34 p.Ala416Thr Benign/Likely benign ★★ 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/dhx34-p-pro497 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown