DHX37 p.Ser147=
c.441C>T · rs538574199 · VCV1975391
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0527%, eas)
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 -4.6 | GERP -4.4 |
| Overall | ||
| CADD | 3.159 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0527%
East Asian · 22/41,758 alleles
Filtering AF
0.0356%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0301%
Overall
0.00289%
45/1,557,024 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0527% | 1,898 |
| Admixed American | 0.0244% | 4,091 |
| Remaining individualsnot grpmax-eligible | 0.0116% | 8,647 |
| European (non-Finnish) | 0.00026% | 384,451 |
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.Ser147=
- Coding
- c.441C>T
- MANE Select
- NM_032656
- dbSNP
- rs538574199
- Type
- single nucleotide variant
- Location
- chr12:124980787 (GRCh38)
- Gene constraint
- LOEUF 0.518 · pLI 0.20 (gnomAD)
- Structure
- AlphaFold pLDDT 76.27 · 1 PDB
- Residue 147
- the 'disordered' region; a β-strand
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-ser147 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown