DHX37 p.Thr897=
c.2691C>T · rs374620898 · VCV2643577
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.334%, sas)
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 -11 | GERP -3.6 |
| Overall | ||
| CADD | 0.483 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.334%
South Asian · 304/90,928 alleles
Filtering AF
0.303%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.291%
Overall
0.0202%
326/1,611,200 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.334% | 299 |
| Middle Eastern | 0.0168% | 5,944 |
| African / African-American | 0.00933% | 10,716 |
| Remaining individualsnot grpmax-eligible | 0.00803% | 12,456 |
| East Asian | 0.00223% | 44,798 |
| European (non-Finnish) | 0.000678% | 147,395 |
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
- DHX37
- Protein
- p.Thr897=
- Coding
- c.2691C>T
- MANE Select
- NM_032656
- dbSNP
- rs374620898
- Type
- single nucleotide variant
- Location
- chr12:124953884 (GRCh38)
- Gene constraint
- LOEUF 0.518 · pLI 0.20 (gnomAD)
- Structure
- AlphaFold pLDDT 76.27 · 1 PDB
- Residue 897
- an α-helix
Similar variants
- DHX37 p.Arg308Gln Pathogenic ★★ same type
- DHX37 p.Arg674Trp Likely pathogenic ★★ same type
- DHX37 p.Ala1142Gly Uncertain significance ★★ ⚠ same type
- DHX37 p.Ala469Ser Uncertain significance ★★ ⚠ same type
- DHX37 p.Ala687Val Uncertain significance ★★ ⚠ same type
- DHX37 p.Ala743Thr Uncertain significance ★★ ⚠ same type
- DHX37 p.Ala864Ser Uncertain significance ★★ ⚠ same type
- DHX37 p.Arg1029Pro 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/dhx37-p-thr897 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown