SPTB p.Val2011fs
c.6032_6035del · VCV4685739
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 30 of 36 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.97 | GERP -5.4, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- SPTB
- Protein
- p.Val2011fs
- Coding
- c.6032_6035del
- MANE Select
- NM_001355436
- Type
- Deletion
- Location
- chr14:64767847 (GRCh38)
- Gene constraint
- LOEUF 0.228 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 79.55 · 6 PDB
- Residue 2011
- an α-helix
Similar variants
- SPTB c.5789_5798+1del Pathogenic/Likely pathogenic ★★ same type
- SPTB p.Arg1576fs Pathogenic/Likely pathogenic ★★ same type
- SPTB p.Ile1952fs Pathogenic/Likely pathogenic ★★ same type
- SPTB p.Phe257fs Likely pathogenic ★★ same type
- SPTB p.Phe367fs Pathogenic/Likely pathogenic ★★ same type
- SPTB p.Pro1197fs Pathogenic/Likely pathogenic ★★ same type
- SPTB p.Ser1216fs Likely pathogenic ★★ same type
- SPTB p.Ser1968fs Pathogenic ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/sptb-p-val2011fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown