EHMT1 p.Arg189=
c.565A>C · rs398124409 · VCV96164
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.48e-05%, nfe)
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 6.4 | GERP -1.6, phastCons 1 |
| Overall | ||
| CADD | 8.469 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.48e-05%
European (non-Finnish) · 1/1,179,884 alleles
Overall
6.2e-05%
1/1,612,562 alleles · very rare
exomes 1/1,460,228 · genomes 0/152,334 · joint denominator
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
- EHMT1
- Protein
- p.Arg189=
- Coding
- c.565A>C
- MANE Select
- NM_024757
- dbSNP
- rs398124409
- Type
- single nucleotide variant
- Location
- chr9:137717105 (GRCh38)
- Gene constraint
- LOEUF 0.159 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 64.89 · 22 PDB
- Residue 189
- the 'disordered' region
Similar variants
- EHMT1 p.Arg189Thr Uncertain significance ★ ⚠ same residue
- EHMT1 p.Arg189Ser Likely benign ★ same residue
- EHMT1 c.1370-1G>C Likely pathogenic ★★ same type
- EHMT1 c.1647+2T>C Pathogenic/Likely pathogenic ★★ same type
- EHMT1 c.2193-1G>C Pathogenic ★★ same type
- EHMT1 c.2276-2A>G Pathogenic ★★ same type
- EHMT1 c.2712+1G>A Pathogenic ★★ same type
- EHMT1 c.2867+2T>C Pathogenic/Likely pathogenic ★★ 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/ehmt1-p-arg189 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown