NBN p.Pro495fs
c.1483_1484delinsA · rs764884516 · VCV186736
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 7 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 6.704e-06)
Conditions
4
aplastic anemia
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 8.6 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
0.00067%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- NBN
- Protein
- p.Pro495fs
- Coding
- c.1483_1484delinsA
- MANE Select
- NM_057091 · reported on NM_002485
- dbSNP
- rs764884516
- Type
- Indel
- Location
- chr8:89953605 (GRCh38)
- Structure
- AlphaFold pLDDT 75.83 · 5 PDB
Similar variants
- NBN p.Pro495Arg Uncertain significance ★★ ⚠ same residue
- NBN p.Pro495Leu Uncertain significance ★★ ⚠ same residue
- NBN p.Pro495Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
- NBN p.Pro495Thr Uncertain significance ★ ⚠ same residue
- NBN p.Pro495Ala Uncertain significance ⚠ same residue
- NBN c.585-1_585delinsC Likely pathogenic ★★ same condition
- NBN p.Glu179fs Pathogenic/Likely pathogenic ★★ same condition
- NBN p.Pro198fs 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-pro495fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown