DHX37 p.Pro243=
c.729G>A · rs377378745 · VCV2643582
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0181%, 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 -15 | GERP -3.8 |
| Overall | ||
| CADD | 0.049 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0181%
Middle Eastern · 1/5,516 alleles
Filtering AF
0.0122%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0115%
Overall
0.0114%
184/1,607,764 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0181% | 5,516 |
| European (non-Finnish) | 0.0139% | 7,186 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00682% | 14,657 |
| African / African-American | 0.0067% | 14,920 |
| Finnishnot grpmax-eligible | 0.00628% | 15,911 |
| East Asian | 0.00447% | 22,370 |
| South Asian | 0.00332% | 30,143 |
| Remaining individualsnot grpmax-eligible | 0.00322% | 31,093 |
| Admixed American | 0.00172% | 57,974 |
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.Pro243=
- Coding
- c.729G>A
- MANE Select
- NM_032656
- dbSNP
- rs377378745
- Type
- single nucleotide variant
- Location
- chr12:124980499 (GRCh38)
- Gene constraint
- LOEUF 0.518 · pLI 0.20 (gnomAD)
- Structure
- AlphaFold pLDDT 76.27 · 1 PDB
- Residue 243
- 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-pro243 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown