EHMT1 p.Ala618fs
c.1851_1852dup · VCV3337766
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 12 of 27 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.94 | GERP -0.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EHMT1
- Protein
- p.Ala618fs
- Coding
- c.1851_1852dup
- MANE Select
- NM_024757
- Type
- Microsatellite
- Location
- chr9:137776674 (GRCh38)
- Gene constraint
- LOEUF 0.159 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 64.89 · 22 PDB
Similar variants
- EHMT1 p.Asp512fs Pathogenic/Likely pathogenic ★★ same type
- EHMT1 p.Gln1043fs Pathogenic ★★ same type
- EHMT1 p.Glu354fs Pathogenic ★★ same type
- EHMT1 p.Ser960fs Pathogenic ★★ same type
- EHMT1 p.Val955fs Pathogenic ★★ same type
- EHMT1 p.1278AQE[1] Uncertain significance ★★ same type
- EHMT1 c.2713-10_2713-9del Likely benign ★★ same type
- EHMT1 c.3375-15CT[2] Benign ★★ 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-ala618fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown