DLG3 p.Asp32=
c.96C>T · rs1235775561 · VCV2660822
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,165,522)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.75 | GERP 0.19, phastCons 1 |
| Overall | ||
| CADD | 10.44 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,165,522). 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
- DLG3
- Protein
- p.Asp32=
- Coding
- c.96C>T
- MANE Select
- NM_021120
- dbSNP
- rs1235775561
- Type
- single nucleotide variant
- Location
- chrX:70445297 (GRCh38)
- Structure
- AlphaFold pLDDT 74.35 · 3 PDB
Similar variants
- DLG3 p.Asp32Asn Uncertain significance ★ ⚠ same residue
- DLG3 p.Arg211Ter Pathogenic ★★ same type
- DLG3 p.Arg217Ter Pathogenic ★★ same type
- DLG3 p.Arg679Ter Pathogenic/Likely pathogenic ★★ same type
- DLG3 p.Arg756Ter Pathogenic ★★ same type
- DLG3 p.Ala627Ser Uncertain significance ★★ ⚠ same type
- DLG3 p.Arg217Gln Uncertain significance ★★ ⚠ same type
- DLG3 p.Arg271Cys Uncertain significance ★★ ⚠ 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-asp32 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown