BAZ2B p.Lys2004fs
c.6010_6013del · VCV4957128
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 35 of 37 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.5 | GERP 0.66, phastCons 0.93 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BAZ2B
- Protein
- p.Lys2004fs
- Coding
- c.6010_6013del
- MANE Select
- NM_013450
- Type
- Microsatellite
- Location
- chr2:159325849 (GRCh38)
- Gene constraint
- LOEUF 0.386 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 55.23 · 265 PDB
- Residue 2004
- the 'disordered' region
Similar variants
- BAZ2B c.3075+3_3075+6del Likely pathogenic ★ same type
- BAZ2B p.Asp286del Uncertain significance ★ same type
- BAZ2B p.Glu290_Ser291insTer Uncertain significance ★ same type
- BAZ2B p.Glu275_Asp276insGlu Likely benign 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/baz2b-p-lys2004fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown