DLG3 p.Asp699del
c.2095_2097del · VCV3781029
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 0.78, phastCons 1 |
Variant & gene context
- Gene
- DLG3
- Protein
- p.Asp699del
- Coding
- c.2095_2097del
- MANE Select
- NM_021120
- Type
- Deletion
- Location
- chrX:70499997 (GRCh38)
- Structure
- AlphaFold pLDDT 74.35 · 3 PDB
- Residue 699
- the guanylate kinase-like domain
Similar variants
- DLG3 p.Gly264fs Pathogenic/Likely pathogenic ★★ same type
- DLG3 c.357+21del Benign/Likely benign ★★ same type
- DLG3 c.1819+1del Likely pathogenic ★ same type
- DLG3 p.Ala450fs Pathogenic ★ same type
- DLG3 p.Asp540fs Likely pathogenic ★ same type
- DLG3 p.Gln457fs Pathogenic ★ same type
- DLG3 p.Gly53fs Pathogenic ★ same type
- DLG3 p.Tyr505fs 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/dlg3-p-asp699del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown