DLG4 p.Ser361=
c.1083G>A · rs1227093654 · VCV1164039
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 7 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,602,318)
Conditions
1
intellectual developmental disorder 62
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.63 | donor loss · deltas |
|---|---|---|
| Pangolin | Δ0.79 | loss · gain 0.46 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 2.4, phastCons 1 |
| Overall | ||
| CADD | 26.5 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,602,318). 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
- DLG4
- Protein
- p.Ser361=
- Coding
- c.1083G>A
- MANE Select
- NM_001321075
- dbSNP
- rs1227093654
- Type
- single nucleotide variant
- Location
- chr17:7196757 (GRCh38)
- Gene constraint
- LOEUF 0.151 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 78.00 · 24 PDB
- Residue 361
- a UniProt-annotated variant site (in mrd62); the pdz 3 domain; a β-strand
Similar variants
- DLG4 p.Ser361Thr Uncertain significance ★★ ⚠ same residue
- DLG4 c.1084-1G>T Pathogenic/Likely pathogenic ★★ same condition
- DLG4 c.1478+2T>C Pathogenic/Likely pathogenic ★★ same condition
- DLG4 c.1543+2T>C Pathogenic/Likely pathogenic ★★ same condition
- DLG4 c.1592-1G>A Pathogenic/Likely pathogenic ★★ same condition
- DLG4 c.1693+1G>A Pathogenic/Likely pathogenic ★★ same condition
- DLG4 c.1866+2T>C Pathogenic/Likely pathogenic ★★ same condition
- DLG4 c.210+1G>T Likely 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/dlg4-p-ser361 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown