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c.712+131C>T

SpliceS3BenignCytoplasmic · predicted
Splice variant · splice site near at position 238 · N-terminal cytoplasmic (intrinsically disordered) · WFS1 (Wolframin)

S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)

Interactive 3D Structure

Interactive structure
rotate · zoom · variant + 5 Å neighbors
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AlphaFold wild-type wolframin · the variant site near residue 238 (N-terminal cytoplasmic (intrinsically disordered)) is highlighted.

Variant Assessment

Variant type
Splice
Schema
S3
Minimal predicted splicing impact (SpliceAI ΔS 0.01)
Domain
N-terminal cytoplasmic (intrinsically disordered)
Status
—

Therapeutic Implication · S3

SpliceAI predicts little splicing disruption at this donor (5') site (max ΔS 0.01 < 0.2; acceptor-gain 0.00, acceptor-loss 0.01, donor-gain 0.01, donor-loss 0.00). The variant may be tolerated or act through a weak/again-tissue-specific mechanism; wet-lab RNA validation is the arbiter before any therapeutic call.

Clinical Evidence

ClinVar classificationBenign
Review statuscriteria provided, single submitter
Associated conditions—
Population frequency (gnomAD v4)Absent from gnomAD v4
cDNA changec.712+131C>T
ClinVar variantNM_006005.3(WFS1):c.712+131C>T
ClinVar accessionVCV001222165
Last evaluated2018/06/23 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

c.712+131C_T — WFS1 Molecular Atlas Card

Variant type: Splice site Boundary: donor (5' splice site) · intronic offset +131 Nearest protein position: ~238 (N-terminal cytoplasmic (intrinsically disordered))

Schema category: S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.01)

SpliceAI predicts little splicing disruption at this donor (5') site (max ΔS 0.01 < 0.2; acceptor-gain 0.00, acceptor-loss 0.01, donor-gain 0.01, donor-loss 0.00). The variant may be tolerated or act through a weak/again-tissue-specific mechanism; wet-lab RNA validation is the arbiter before any therapeutic call.

Splice prediction

  • Affected site: donor (5' splice site), extended splice region
  • SpliceAI delta scores (GRCh38 chr4:6292128 C>T):
    • acceptor gain 0.00 · acceptor loss 0.01
    • donor gain 0.01 · donor loss 0.00
  • Predicted outcome: Minimal predicted splicing impact (SpliceAI ΔS 0.01)

Clinical evidence

  • Classification: Benign
  • Review status: criteria provided, single submitter
  • cDNA change: c.712+131C>T
  • ClinVar accession: VCV001222165
  • Last evaluated: 2018/06/23 00:00
  • Submissions: 1

Card generated by wolfram-atlas-batch (splice pipeline) on 2026-06-08T07:51:46.924660Z. Schema: reference/card_schema_extension.md (S1–S3). WFS1: UniProt O76024, AlphaFold v6.