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L484=

SynonymousSilentLikely benignTransmembrane · predicted
Synonymous variant · codon at position 484 · Lumenal loop 3 · 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 484 (Lumenal loop 3) is highlighted.

Variant Assessment

Variant type
Synonymous
Schema
Silent
Silent — no amino-acid change
Domain
Lumenal loop 3
Status
—

Therapeutic Implication · Silent

No amino-acid change (L484 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 classificationLikely benign
Review statuscriteria provided, multiple submitters, no conflicts
Associated conditions—
Population frequency (gnomAD v4)Absent from gnomAD v4
cDNA changec.1452T>C
Protein consequenceL484=
ClinVar variantNM_006005.3(WFS1):c.1452T>C (p.Leu484=)
ClinVar accessionVCV000259897
Last evaluated2023/04/27 00:00

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

Therapeutic Strategy Handoff · prediction

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Full Variant Card

L484= — WFS1 Molecular Atlas Card

Variant type: Synonymous (silent) Codon: position 484 (Leucine, L) — amino acid unchanged Domain context: Lumenal loop 3

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

No amino-acid change (L484 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: Likely benign
  • Review status: criteria provided, multiple submitters, no conflicts
  • cDNA change: c.1452T>C
  • ClinVar accession: VCV000259897
  • Last evaluated: 2023/04/27 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:53:51.506726Z. WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.