# c.316-14T_C — WFS1 Molecular Atlas Card

**Variant type:** Splice site
**Boundary:** acceptor (3' splice site) · intronic offset -14
**Nearest protein position:** ~106 (N-terminal cytoplasmic (intrinsically disordered))

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## Schema category: **S3 — Minimal predicted splicing impact (SpliceAI ΔS 0.00)**

SpliceAI predicts little splicing disruption at this acceptor (3') site (max ΔS 0.00 < 0.2; acceptor-gain 0.00, acceptor-loss 0.00, donor-gain 0.00, 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.

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## Splice prediction

- **Affected site:** acceptor (3' splice site), extended splice region
- **SpliceAI delta scores** (GRCh38 chr4:6288973 T>C):
  - acceptor gain **0.00** · acceptor loss **0.00**
  - donor gain **0.00** · donor loss **0.00**
- **Predicted outcome:** Minimal predicted splicing impact (SpliceAI ΔS 0.00)

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## Clinical evidence

- **Classification:** Likely benign
- **Review status:** criteria provided, multiple submitters, no conflicts
- **Associated conditions:** Wolfram syndrome 1; Cataract 41; Wolfram-like syndrome; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus
- **cDNA change:** c.316-14T>C
- **ClinVar accession:** VCV000385813
- **Last evaluated:** 2025/07/23 00:00
- **Submissions:** 1

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_Card generated by `wolfram-atlas-batch` (splice pipeline) on 2026-06-08T07:50:09.966343Z._
_Schema: `reference/card_schema_extension.md` (S1–S3). WFS1: UniProt O76024, AlphaFold v6._