DEPDC5 p.Glu1237fs
c.3709del · rs2092986219 · VCV873407
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 haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 37 of 43 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.9 | GERP 2.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DEPDC5
- Protein
- p.Glu1237fs
- Coding
- c.3709del
- MANE Select
- NM_001242896
- dbSNP
- rs2092986219
- Type
- Deletion
- Location
- chr22:31876169 (GRCh38)
- Gene constraint
- LOEUF 0.403 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 65.22 · 11 PDB
- Residue 1237
- the dep domain
Disease context
familial sleep-related hypermotor epilepsy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Sleep-related hypermotor epilepsy (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adolescent, Adult, Childhood
Similar variants
- DEPDC5 p.Gly1564_Asp1565insTer Pathogenic/Likely pathogenic ★★ same condition
- DEPDC5 p.Glu1237Lys Uncertain significance ★★ ⚠ same residue
- DEPDC5 p.Glu1237= Likely benign ★ same residue
- DEPDC5 p.Thr864Met Conflicting classifications of pathogenicity ★ ⚠ same condition
- DEPDC5 p.Asn1362fs Pathogenic ★★ same type
- DEPDC5 p.Asn437fs Pathogenic ★★ same type
- DEPDC5 p.Leu1356fs Pathogenic/Likely pathogenic ★★ same type
- DEPDC5 p.Lys229fs 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/depdc5-p-glu1237fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown