RareResearch.AI
← Back to atlas

V536=

SynonymousSilentLikely benignTransmembrane · predicted
Synonymous variant · codon at position 536 · Transmembrane helix 8 · WFS1 (Wolframin)

Silent — Silent — no amino-acid change

Interactive 3D Structure

Interactive structure
rotate · zoom · variant + 5 Å neighbors
Fullscreen ↗

AlphaFold wild-type wolframin · the variant site near residue 536 (Transmembrane helix 8) is highlighted.

Variant Assessment

Variant type
Synonymous
Schema
Silent
Silent — no amino-acid change
Domain
Transmembrane helix 8
Status
—

Therapeutic Implication · Silent

No amino-acid change (V536 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.1608G>C
Protein consequenceV536=
ClinVar variantNM_006005.3(WFS1):c.1608G>C (p.Val536=)
ClinVar accessionVCV002825205
Last evaluated2022/12/18 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 V536= card below and upload it to Wolfram Intelligence to generate therapeutic-strategy proposals matched to this Silent synonymous variant and its domain context.

Download V536= PDF card ↓or markdown ↓

Full Variant Card

V536= — WFS1 Molecular Atlas Card

Variant type: Synonymous (silent) Codon: position 536 (Valine, V) — amino acid unchanged Domain context: Transmembrane helix 8

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

No amino-acid change (V536 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.1608G>C
  • ClinVar accession: VCV002825205
  • Last evaluated: 2022/12/18 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:54:21.686375Z. WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.