BSN p.Asp1283fs
c.3849del · VCV4685247
Uncertain significance
Single submitter
Classification
Uncertain significance
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 5 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 8 | GERP 1.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BSN
- Protein
- p.Asp1283fs
- Coding
- c.3849del
- MANE Select
- NM_003458
- Type
- Deletion
- Location
- chr3:49653405 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 (gnomAD)
Similar variants
- BSN p.Ala1112fs Pathogenic ★ same type
- BSN p.Pro1963fs Pathogenic ★ same type
- BSN p.Ala11_Gly22del Uncertain significance ★ same type
- BSN p.Arg2635fs Uncertain significance ★ same type
- BSN p.Arg3588fs Uncertain significance ★ same type
- BSN p.Glu884_Pro885del Uncertain significance ★ same type
- BSN p.Gly2231fs Uncertain significance ★ same type
- BSN p.Leu2445fs Uncertain significance ★ 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/bsn-p-asp1283fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown