Is TAB2 p.Gln111Ter (c.331C>T) pathogenic?

TAB2 p.Gln111Ter (c.331C>T) is classified Likely pathogenic in TAB2 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-12-02). Absent from gnomAD v4.1; Associated with TAB2-related disorder.

What condition is associated with TAB2 p.Gln111Ter (c.331C>T)?

TAB2 p.Gln111Ter (c.331C>T) is associated with TAB2-related disorder (ClinVar).

How common is TAB2 p.Gln111Ter (c.331C>T) in the general population?

TAB2 p.Gln111Ter (c.331C>T) is absent from gnomAD v4.1 (gnomAD).

TAB2 p.Gln111Ter

c.331C>T · VCV4894351

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

TAB2-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 3 of 7
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.7	GERP 1.8, phastCons 1
Overall
CADD	36.0	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: TAB2
Protein: p.Gln111Ter
Coding: c.331C>T
MANE Select: NM_001292034
Type: single nucleotide variant
Location: chr6:149378246 (GRCh38)
Gene constraint: LOEUF 0.117 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 53.24 · 6 PDB
Residue 111: the 'disordered' region

Full TAB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

TAB2-related disorder

Similar variants

TAB2 p.Gln111Arg Uncertain significance ★ ⚠ same residue
TAB2 p.Gln111His Uncertain significance ★ ⚠ same residue
TAB2 p.Gln111= Likely benign ★ same residue
TAB2 p.Arg546Ter Pathogenic/Likely pathogenic ★★ same condition
TAB2 p.Gln170Lys Uncertain significance ★★ ⚠ same condition
TAB2 c.102+1G>A Uncertain significance ★ same condition
TAB2 p.Cys684Ser Uncertain significance ★ ⚠ same condition
TAB2 p.Gly210Glu Uncertain significance ⚠ 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/tab2-p-gln111ter (accessed [today's date]).

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