DHX37 p.Ser565=
c.1695C>T · rs756681997 · VCV2048244
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0156%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.21 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -8.4 | GERP -3.5 |
| Overall | ||
| CADD | 0.915 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0156%
East Asian · 7/44,872 alleles
Filtering AF
0.00726%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00515%
Overall
0.00149%
24/1,613,602 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0156% | 6,410 |
| African / African-American | 0.00267% | 37,517 |
| Admixed American | 0.00167% | 59,974 |
| European (non-Finnish) | 0.00119% | 84,268 |
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.Ser565=
- Coding
- c.1695C>T
- MANE Select
- NM_032656
- dbSNP
- rs756681997
- Type
- single nucleotide variant
- Location
- chr12:124965708 (GRCh38)
- Gene constraint
- LOEUF 0.518 · pLI 0.20 (gnomAD)
- Structure
- AlphaFold pLDDT 76.27 · 1 PDB
- Residue 565
- the helicase c-terminal domain; the 'disordered' region
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-ser565 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown