Is NBAS p.Gln44fs (c.130del) pathogenic?

NBAS p.Gln44fs (c.130del) is classified Pathogenic/Likely pathogenic in NBAS (ClinVar, Multiple submitters, 2 submitters; last evaluated 2023-12-19). No gnomAD frequency available for this variant.

How common is NBAS p.Gln44fs (c.130del) in the general population?

NBAS p.Gln44fs (c.130del) is no gnomAD frequency available for this variant (gnomAD).

NBAS p.Gln44fs

c.130del · rs1064795199 · VCV421538

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 2 of 52
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4	GERP 1.1, 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: NBAS
Protein: p.Gln44fs
Coding: c.130del
MANE Select: NM_015909
dbSNP: rs1064795199
Type: Deletion
Location: chr2:15558622 (GRCh38)
Gene constraint: LOEUF 0.761 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 74.42
Residue 44: the 'interaction with use1' region; a UniProt-annotated variant site (in)

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

Similar variants

NBAS p.Gln44Glu Benign ★★ same residue
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.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-gln44fs (accessed [today's date]).

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