NBN p.Asn511fs
c.1533_1534del · VCV3366333
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Nijmegen breakage syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.5 | GERP -0.81, phastCons 0.01 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- NBN
- Protein
- p.Asn511fs
- Coding
- c.1533_1534del
- MANE Select
- NM_057091 · reported on NM_002485
- Type
- Deletion
- Location
- chr8:89953555 (GRCh38)
- Structure
- AlphaFold pLDDT 75.83 · 5 PDB
Similar variants
- NBN p.Asn511Lys Uncertain significance ★★ ⚠ same residue
- NBN p.Asn511Thr Uncertain significance ★★ ⚠ same residue
- NBN p.Asn511= Likely benign ★★ same residue
- NBN p.Asn511Asp Uncertain significance ★ ⚠ same residue
- NBN p.Asn511_Glu512del Uncertain significance ★ same residue
- NBN c.1397+1_1397+9del Likely pathogenic ★★ same condition
- NBN c.1397+1del Pathogenic ★★ same condition
- NBN c.163_171+3del Pathogenic/Likely pathogenic ★★ 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/nbn-p-asn511fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown