DHX34 p.Ser613=
c.1839C>T · rs151030783 · VCV718689
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.39%, mid)
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 -12 | GERP -3.4 |
| Overall | ||
| CADD | 3.774 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.39%
Middle Eastern · 84/6,060 alleles
Filtering AF
1.15%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.06%
Overall
0.052%
839/1,613,146 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 1.39% | 72 |
| Ashkenazi Jewishnot grpmax-eligible | 0.433% | 231 |
| Remaining individualsnot grpmax-eligible | 0.117% | 856 |
| Admixed American | 0.065% | 1,538 |
| European (non-Finnish) | 0.0402% | 2,489 |
| African / African-American | 0.0293% | 3,412 |
| South Asian | 0.0198% | 5,060 |
| Finnishnot grpmax-eligible | 0.00158% | 63,274 |
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.Ser613=
- Coding
- c.1839C>T
- MANE Select
- NM_014681
- dbSNP
- rs151030783
- Type
- single nucleotide variant
- Location
- chr19:47372800 (GRCh38)
- Gene constraint
- LOEUF 1.047 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.85
- Residue 613
- a UniProt-annotated variant site (found in a patient with a neurodevelopmental disorder; uncertain significance)
Similar variants
- 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
- DHX34 p.Ala817Thr 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-ser613 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown