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4p16.3-16.1 deletion

Copy-numberCNV-lossPathogenicCytoplasmic · predicted
Copy-number variant · Chromosome 4p16.3-16.1 · WFS1 (Wolframin)

CNV-loss — Copy-number deletion — 4p16.3-16.1

Gene-level event

This is a large copy-number / structural variant spanning Chromosome 4p16.3-16.1. 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-loss
Copy-number deletion — 4p16.3-16.1
Domain
Chromosome 4p16.3-16.1
Status
—

Therapeutic Implication · CNV-loss

This is a large copy-number deletion spanning 4p16.3-16.1 — a gene-level event causing loss of one copy of this region (wolframin haploinsufficiency or, with a second hit, loss of function). 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 statuscriteria provided, single submitter
Associated conditionsSee cases
Population frequency (gnomAD v4)Absent from gnomAD v4
cDNA change4p16.3-16.1 deletion
Protein consequence4p16.3-16.1 deletion
ClinVar variantGRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1
ClinVar accessionVCV000057936
Last evaluated2011/08/12 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 4p16.3-16.1 deletion card below and upload it to Wolfram Intelligence to generate therapeutic-strategy proposals matched to this CNV-loss copy-number variant and its domain context.

Download 4p16.3-16.1 deletion PDF card ↓or markdown ↓

Full Variant Card

4p16.3-16.1 deletion — WFS1 Molecular Atlas Card

Variant type: Copy-number variant (deletion) Region: Chromosome 4p16.3-16.1 (gene-level structural event)

CNV-loss — Copy-number deletion — 4p16.3-16.1

This is a large copy-number deletion spanning 4p16.3-16.1 — a gene-level event causing loss of one copy of this region (wolframin haploinsufficiency or, with a second hit, loss of function). 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: criteria provided, single submitter
  • Associated conditions: See cases
  • ClinVar accession: VCV000057936
  • Genomic variant: GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1
  • Last evaluated: 2011/08/12 00:00

Card generated by wolfram-atlas-batch (CNV pipeline) on 2026-06-08T03:03:52.352841Z. CNVs are gene-level events; WFS1 protein reference UniProt O76024 is not residue-mapped here.