DEPDC5 p.Ser313fs
c.936_937dup · VCV3642411
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
familial focal epilepsy with variable foci
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 14 of 43 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.7 | GERP 1.6, phastCons 0.97 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DEPDC5
- Protein
- p.Ser313fs
- Coding
- c.936_937dup
- MANE Select
- NM_001242896
- Type
- Duplication
- Location
- chr22:31798644 (GRCh38)
- Gene constraint
- LOEUF 0.403 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 65.22 · 11 PDB
- Residue 313
- an α-helix
Disease context
familial focal epilepsy with variable foci — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Familial focal epilepsy with variable foci (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adolescent, Adult, Childhood, Infancy
Similar variants
- DEPDC5 p.Ser313Leu Uncertain significance ★ ⚠ same residue
- DEPDC5 p.His653fs Pathogenic/Likely pathogenic ★★ same condition
- DEPDC5 p.Ile67fs Pathogenic ★★ same condition
- DEPDC5 p.Gly142dup Uncertain significance ★★ same condition
- DEPDC5 c.2516-16dup Likely benign ★★ same condition
- DEPDC5 c.3486-5dup Likely benign ★★ same condition
- DEPDC5 p.Arg165fs Pathogenic ★ same condition
- DEPDC5 p.Arg78fs Pathogenic ★ same condition
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-ser313fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown