Is TAB2 p.Gln603fs (c.1807del) pathogenic?

TAB2 p.Gln603fs (c.1807del) is classified Likely pathogenic in TAB2 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-11-30). Associated with congenital heart defects, multiple types, 2.

What condition is associated with TAB2 p.Gln603fs (c.1807del)?

TAB2 p.Gln603fs (c.1807del) is associated with congenital heart defects, multiple types, 2 (ClinVar).

TAB2 p.Gln603fs

c.1807del · VCV4820166

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

congenital heart defects, multiple types, 2

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 5 of 7
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.8	GERP 1.6, phastCons 1

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

Variant & gene context

Gene: TAB2
Protein: p.Gln603fs
Coding: c.1807del
MANE Select: NM_001292034
Type: Deletion
Location: chr6:149398010 (GRCh38)
Gene constraint: LOEUF 0.117 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 53.24 · 6 PDB

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

Disease context

congenital heart defects, multiple types, 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

TAB2 p.His158fs Pathogenic ★ same condition
TAB2 p.Pro208fs Pathogenic ★ same condition
TAB2 p.Gln603His Uncertain significance ★ ⚠ same residue
TAB2 p.Ile8fs Pathogenic same condition
TAB2 p.Ala148fs Uncertain significance same condition
TAB2 c.1764+1G>A Pathogenic/Likely pathogenic ★★ same condition
TAB2 p.Arg574Ter Likely pathogenic ★★ same condition
TAB2 p.Arg96Lys 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-gln603fs (accessed [today's date]).

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