Is NBN p.Arg468fs (c.1402dup) pathogenic?

NBN p.Arg468fs (c.1402dup) is classified Likely pathogenic in NBN (ClinVar, Single submitter, 1 submitter; last evaluated 2023-09-10). Absent from gnomAD; Associated with aplastic anemia.

What condition is associated with NBN p.Arg468fs (c.1402dup)?

NBN p.Arg468fs (c.1402dup) is associated with aplastic anemia (ClinVar).

How common is NBN p.Arg468fs (c.1402dup) in the general population?

NBN p.Arg468fs (c.1402dup) is absent from gnomAD (gnomAD).

NBN p.Arg468fs

c.1402dup · rs2488234559 · VCV2676935

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

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 7.6	GERP 1.8, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: NBN
Protein: p.Arg468fs
Coding: c.1402dup
MANE Select: NM_057091 · reported on NM_002485
dbSNP: rs2488234559
Type: Duplication
Location: chr8:89953686 (GRCh38)
Structure: AlphaFold pLDDT 75.83 · 5 PDB

Full NBN gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

aplastic anemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

NBN p.Arg107fs Pathogenic ★★ same condition
NBN p.Arg466fs Pathogenic/Likely pathogenic ★★ same condition
NBN p.Gln344fs Likely pathogenic ★★ same condition
NBN p.Glu248fs Pathogenic/Likely pathogenic ★★ same condition
NBN p.Glu552fs Pathogenic/Likely pathogenic ★★ same condition
NBN p.Glu573fs Pathogenic/Likely pathogenic ★★ same condition
NBN p.Gly680fs Pathogenic/Likely pathogenic ★★ same condition
NBN p.Leu654fs 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-arg468fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown