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H210=

SynonymousSilentConflictingCytoplasmic · predicted
Synonymous variant · codon at position 210 · N-terminal cytoplasmic (intrinsically disordered) · WFS1 (Wolframin)

Silent — Silent — but near an exon boundary (splice effect possible)

Interactive 3D Structure

Interactive structure
rotate · zoom · variant + 5 Å neighbors
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AlphaFold wild-type wolframin · the variant site near residue 210 (N-terminal cytoplasmic (intrinsically disordered)) is highlighted.

Variant Assessment

Variant type
Synonymous
Schema
Silent
Silent — but near an exon boundary (splice effect possible)
Domain
N-terminal cytoplasmic (intrinsically disordered)
Status
—

Therapeutic Implication · Silent

No amino-acid change (H210 is unchanged), so there is no protein-level structural or stability effect. However, this codon sits within 3 residues of the exon junction near protein position 210 — close enough that the nucleotide change could perturb splicing. Worth a SpliceAI check (Wave 2); otherwise expected to be benign at the protein level.

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditions—
Population frequency (gnomAD v4)Ultra-rare · AF 0.0018%
cDNA changec.630C>T
Protein consequenceH210=
ClinVar variantNM_006005.3(WFS1):c.630C>T (p.His210=)
ClinVar accessionVCV001120077
Last evaluated2024/06/26 00:00

Observed at very low frequency in gnomAD.

Therapeutic Strategy Handoff · prediction

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Full Variant Card

H210= — WFS1 Molecular Atlas Card

Variant type: Synonymous (silent) Codon: position 210 (Histidine, H) — amino acid unchanged Domain context: N-terminal cytoplasmic (intrinsically disordered)

Schema category: Silent — Silent — but near an exon boundary (splice effect possible)

No amino-acid change (H210 is unchanged), so there is no protein-level structural or stability effect. However, this codon sits within 3 residues of the exon junction near protein position 210 — close enough that the nucleotide change could perturb splicing. Worth a SpliceAI check (Wave 2); otherwise expected to be benign at the protein level.

Clinical evidence

  • Classification: Conflicting classifications of pathogenicity
  • Review status: criteria provided, conflicting classifications
  • cDNA change: c.630C>T
  • ClinVar accession: VCV001120077
  • Last evaluated: 2024/06/26 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (synonymous pipeline) on 2026-06-08T02:51:30.599458Z. WFS1: UniProt O76024, AlphaFold v6. Synonymous variants carry no protein-structural effect.