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A586=

SynonymousSilentConflictingTransmembrane · predicted
Synonymous variant · codon at position 586 · Transmembrane helix 9 · WFS1 (Wolframin)

Silent — Silent — no amino-acid change

Interactive 3D Structure

Interactive structure
rotate · zoom · variant + 5 Å neighbors
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AlphaFold wild-type wolframin · the variant site near residue 586 (Transmembrane helix 9) is highlighted.

Variant Assessment

Variant type
Synonymous
Schema
Silent
Silent — no amino-acid change
Domain
Transmembrane helix 9
Status
—

Therapeutic Implication · Silent

No amino-acid change (A586 is unchanged): the codon is altered but the protein sequence is identical to wild-type. No structural, stability or AlphaMissense effect applies. Synonymous variants are typically benign unless they affect splicing or regulatory elements; this one is not adjacent to an exon boundary.

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditionsWFS1-Related Spectrum Disorders; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6
Population frequency (gnomAD v4)Low frequency · AF 0.036%
cDNA changec.1758C>T
Protein consequenceA586=
ClinVar variantNM_006005.3(WFS1):c.1758C>T (p.Ala586=)
ClinVar accessionVCV000178595
Last evaluated2026/03/01 00:00

Observed in the general population.

Therapeutic Strategy Handoff · prediction

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Full Variant Card

A586= — WFS1 Molecular Atlas Card

Variant type: Synonymous (silent) Codon: position 586 (Alanine, A) — amino acid unchanged Domain context: Transmembrane helix 9

Schema category: Silent — Silent — no amino-acid change

No amino-acid change (A586 is unchanged): the codon is altered but the protein sequence is identical to wild-type. No structural, stability or AlphaMissense effect applies. Synonymous variants are typically benign unless they affect splicing or regulatory elements; this one is not adjacent to an exon boundary.

Clinical evidence

  • Classification: Conflicting classifications of pathogenicity
  • Review status: criteria provided, conflicting classifications
  • Associated conditions: WFS1-Related Spectrum Disorders; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6
  • cDNA change: c.1758C>T
  • ClinVar accession: VCV000178595
  • Last evaluated: 2026/03/01 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:54:55.812666Z. WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.