NBAS p.Glu952fs
c.2854del · VCV4691603
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 |
|---|---|---|
| NMD | predicted | premature termination codon in exon 25 of 52 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP -0.34, phastCons 0.005 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- NBAS
- Protein
- p.Glu952fs
- Coding
- c.2854del
- MANE Select
- NM_015909
- Type
- Deletion
- Location
- chr2:15415629 (GRCh38)
- Gene constraint
- LOEUF 0.761 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.42
- Residue 952
- a UniProt-annotated variant site (in ilfs2; uncertain significance); a UniProt-annotated variant site (found in a patient with a multisystem disease involving liver, eye, immune system, connective tissue and bone; uncertain significance); a UniProt-annotated variant site (found in a patient with a multisystem disease involving liver, eye, immune system, connective tissue and bone; uncertain significance; reduced protein expression levels in fibroblasts); the 'interaction with use1' region
Similar variants
- NBAS p.Asp2149_Ile2150insTer Pathogenic/Likely pathogenic ★★ same type
- NBAS p.Cys1112fs Pathogenic ★★ same type
- NBAS p.Gln2232fs Pathogenic/Likely pathogenic ★★ same type
- NBAS p.Gln44fs Pathogenic/Likely pathogenic ★★ same type
- NBAS p.Glu1092fs Pathogenic/Likely pathogenic ★★ same type
- NBAS p.Ile984fs Pathogenic/Likely pathogenic ★★ same type
- NBAS p.Leu1507fs Pathogenic/Likely pathogenic ★★ same type
- NBAS p.Leu1726fs Pathogenic/Likely 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/nbas-p-glu952fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown