NBAS c.(?_5028
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
short stature-optic atrophy-Pelger-Huët anomaly syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- NBAS
- Coding
- c.(?_5028
- MANE Select
- NM_015909
- Type
- Deletion
- Gene constraint
- LOEUF 0.761 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.42
Similar variants
- NBAS p.Asp2149_Ile2150insTer Pathogenic/Likely pathogenic ★★ same condition
- NBAS p.Ile984fs Pathogenic/Likely pathogenic ★★ same condition
- NBAS p.Leu1726fs Pathogenic/Likely pathogenic ★★ same condition
- NBAS p.Ser1419fs Pathogenic ★★ same condition
- NBAS c.4657_4659+18del Likely pathogenic ★ same condition
- NBAS p.Ala1686fs Likely pathogenic ★ same condition
- NBAS p.Phe1701_Met1702insTer Pathogenic ★ same condition
- NBAS p.Ile512fs Conflicting classifications of pathogenicity ★ same condition
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/nbas-c-5028 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown