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R517=

SynonymousSilentLikely benignTransmembrane · predicted
Synonymous variant · codon at position 517 · Transmembrane helix 7 · 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 517 (Transmembrane helix 7) is highlighted.

Variant Assessment

Variant type
Synonymous
Schema
Silent
Silent — no amino-acid change
Domain
Transmembrane helix 7
Status
—

Therapeutic Implication · Silent

No amino-acid change (R517 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, single submitter
Associated conditions—
Population frequency (gnomAD v4)Absent from gnomAD v4
cDNA changec.1551C>T
Protein consequenceR517=
ClinVar variantNM_006005.3(WFS1):c.1551C>T (p.Arg517=)
ClinVar accessionVCV003686223
Last evaluated2024/05/13 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

R517= — WFS1 Molecular Atlas Card

Variant type: Synonymous (silent) Codon: position 517 (Arginine, R) — amino acid unchanged Domain context: Transmembrane helix 7

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

No amino-acid change (R517 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, single submitter
  • cDNA change: c.1551C>T
  • ClinVar accession: VCV003686223
  • Last evaluated: 2024/05/13 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:54:09.941668Z. WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.