NSD2 c.2523dupG
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
NSD2-related disorder
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 1.9, phastCons 1 |
| Non-coding constraint | Z 4.74 | 1 kb window · o/e 0.70 · regional · uncalibrated |
Variant & gene context
- Gene
- NSD2
- Coding
- c.2523dupG
- MANE Select
- NM_001042424
- Type
- Duplication
- Location
- chr4:1955691 (GRCh38)
- Gene constraint
- LOEUF 0.139 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 66.22 · 24 PDB
Disease context
NSD2-related disorder
Similar variants
- NSD2 p.Pro1014_Lys1015insTer Likely pathogenic ★ same condition
- NSD2 c.1675-11_1675-10dup Likely benign same condition
- NSD2 p.Gly92Ser Uncertain significance ★★ ⚠ same condition
- NSD2 c.761-1G>C Likely pathogenic ★ same condition
- NSD2 p.Ala429fs Likely pathogenic ★ same condition
- NSD2 p.Arg319Ser Likely pathogenic ★ same condition
- NSD2 p.Arg944Trp Likely pathogenic ★ same condition
- NSD2 p.Cys743Phe 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/nsd2-c-2523dupg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown