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4p16.3-11 duplication

Copy-numberCNV-gainPathogenicCytoplasmic · predicted
Copy-number variant · Chromosome 4p16.3-11 · WFS1 (Wolframin)

CNV-gain — Copy-number duplication — 4p16.3-11

Gene-level event

This is a large copy-number / structural variant spanning Chromosome 4p16.3-11. It acts by gene dosage rather than by altering a single residue, so there is no per-residue AlphaFold structure to display — see the assessment and ClinVar evidence below.

Variant Assessment

Variant type
Copy-number
Schema
CNV-gain
Copy-number duplication — 4p16.3-11
Domain
Chromosome 4p16.3-11
Status
—

Therapeutic Implication · CNV-gain

This is a large copy-number duplication spanning 4p16.3-11 — a gene-level event causing an extra copy of this region (gene over-dosage / partial trisomy). CNVs act by dosage rather than by altering a single residue, so AlphaFold residue mapping, ΔΔG, NMD and AlphaMissense don't apply. Therapeutically these are gene-replacement candidates (restore a working copy); per-residue chaperone/readthrough strategies are not relevant. Confirm breakpoints and gene content against the ClinVar record below.

Clinical Evidence

ClinVar classificationPathogenic
Review statusno assertion criteria provided
Associated conditionsnot provided
Population frequency (gnomAD v4)Absent from gnomAD v4
cDNA change4p16.3-11 duplication
Protein consequence4p16.3-11 duplication
ClinVar variantGRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3
ClinVar accessionVCV000562874
Last evaluated2018/01/15 00:00

Not observed in ~730k individuals — consistent with a rare allele (ACMG PM2_supporting).

Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the 4p16.3-11 duplication card below and upload it to Wolfram Intelligence to generate therapeutic-strategy proposals matched to this CNV-gain copy-number variant and its domain context.

Download 4p16.3-11 duplication PDF card ↓or markdown ↓

Full Variant Card

4p16.3-11 duplication — WFS1 Molecular Atlas Card

Variant type: Copy-number variant (duplication) Region: Chromosome 4p16.3-11 (gene-level structural event)

CNV-gain — Copy-number duplication — 4p16.3-11

This is a large copy-number duplication spanning 4p16.3-11 — a gene-level event causing an extra copy of this region (gene over-dosage / partial trisomy). CNVs act by dosage rather than by altering a single residue, so AlphaFold residue mapping, ΔΔG, NMD and AlphaMissense don't apply. Therapeutically these are gene-replacement candidates (restore a working copy); per-residue chaperone/readthrough strategies are not relevant. Confirm breakpoints and gene content against the ClinVar record below.

Clinical evidence

  • Classification: Pathogenic
  • Review status: no assertion criteria provided
  • Associated conditions: not provided
  • ClinVar accession: VCV000562874
  • Genomic variant: GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3
  • Last evaluated: 2018/01/15 00:00

Card generated by wolfram-atlas-batch (CNV pipeline) on 2026-06-08T03:03:52.339997Z. CNVs are gene-level events; WFS1 protein reference UniProt O76024 is not residue-mapped here.