BAZ2B p.Asp286del
c.850GAT[2] · VCV4076567
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00801%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.7, phastCons 1 |
| Overall | ||
| CADD | 18.0 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00801%
African / African-American · 6/74,916 alleles
Filtering AF
0.00347%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00229%
Overall
0.000372%
6/1,613,728 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- BAZ2B
- Protein
- p.Asp286del
- Coding
- c.850GAT[2]
- MANE Select
- NM_013450
- Type
- Microsatellite
- Location
- chr2:159439051 (GRCh38)
- Gene constraint
- LOEUF 0.386 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 55.23 · 265 PDB
- Residue 286
- the 'disordered' region
Similar variants
- BAZ2B c.3075+3_3075+6del Likely pathogenic ★ same type
- BAZ2B p.Glu290_Ser291insTer Uncertain significance ★ same type
- BAZ2B p.Lys2004fs 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-asp286del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown