c.832+1G>A

SpliceS3Pathogenic/Likely pathogenicCytoplasmic · predicted

Splice variant · splice site near at position 278 · N-terminal cytoplasmic (intrinsically disordered) · WFS1 (Wolframin)

S3 — SpliceAI could not score this variant — wet-lab validation

Interactive 3D Structure

Interactive structure

rotate · zoom · variant + 5 Å neighbors

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AlphaFold wild-type wolframin · the variant site near residue 278 (N-terminal cytoplasmic (intrinsically disordered)) is highlighted. The SpliceAI isoform prediction that resolves the exact structural outcome is computing and backfills here.

Variant Assessment

Variant type

Splice

Schema

SpliceAI could not score this variant — wet-lab validation

Domain

N-terminal cytoplasmic (intrinsically disordered)

Depth

computing

SpliceAI isoform prediction

Computational depth pending. The schema call above is from sequence-level analysis. The SpliceAI isoform prediction that resolves the definitive structural/splicing outcome is computing and backfills onto this card (Wave 2).

Therapeutic Implication · S3

SpliceAI returned no usable prediction (no genomic coordinate / SpliceAI record). The canonical splice-region call stands; wet-lab RNA validation is required to resolve the isoform.

Clinical Evidence

ClinVar classificationPathogenic/Likely pathogenic

Review status—

Associated conditions—

Population frequency (gnomAD v4)Absent from gnomAD v4

cDNA changec.832+1G>A

ClinVar variantc.832+1G>A

ClinVar accession—

Last evaluated—

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

Therapeutic Strategy Handoff · prediction

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Full Variant Card

c.832+1G_A — WFS1 Molecular Atlas Card

Variant type: Splice site Boundary: donor (5' splice site) · intronic offset +1 Nearest protein position: ~278 (N-terminal cytoplasmic (intrinsically disordered))

Schema category: S3 — SpliceAI could not score this variant — wet-lab validation

SpliceAI returned no usable prediction (no genomic coordinate / SpliceAI record). The canonical splice-region call stands; wet-lab RNA validation is required to resolve the isoform.

Splice prediction

Affected site: donor (5' splice site), canonical (±1/±2 core)
SpliceAI: no genomic coordinate / SpliceAI record

Clinical evidence

Not found in the cached WFS1 ClinVar set (_reference/WFS1_clinvar_variants.csv).

Card generated by wolfram-atlas-batch (splice pipeline) on 2026-06-08T07:53:13.337833Z. Schema: reference/card_schema_extension.md (S1–S3). WFS1: UniProt O76024, AlphaFold v6.