NBN p.Pro203fs
c.608del · VCV3595943
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
3
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 0.049 | GERP -2.2, phastCons 0.01 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- NBN
- Protein
- p.Pro203fs
- Coding
- c.608del
- MANE Select
- NM_057091 · reported on NM_002485
- Type
- Deletion
- Location
- chr8:89971267 (GRCh38)
- Structure
- AlphaFold pLDDT 75.83 · 5 PDB
- Residue 203
- a disulfide bond
Similar variants
- NBN p.Pro203Thr Uncertain significance ★★ ⚠ same residue
- NBN p.Pro203= Likely benign ★ 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
- NBN c.2070+2del Likely pathogenic ★★ same condition
- NBN c.2071del Pathogenic/Likely pathogenic ★★ same condition
- NBN c.2226_2234+4del 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-pro203fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown