Is TAB2 p.Asp605fs (c.1813_1814delinsC) pathogenic?

TAB2 p.Asp605fs (c.18131814delinsC) is classified Pathogenic in TAB2 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-09-23). No gnomAD frequency available for this variant; Associated with congenital heart defects, multiple types, 2.

What condition is associated with TAB2 p.Asp605fs (c.1813_1814delinsC)?

TAB2 p.Asp605fs (c.1813_1814delinsC) is associated with congenital heart defects, multiple types, 2 (ClinVar).

How common is TAB2 p.Asp605fs (c.1813_1814delinsC) in the general population?

TAB2 p.Asp605fs (c.1813_1814delinsC) is no gnomAD frequency available for this variant (gnomAD).

TAB2 p.Asp605fs

c.1813_1814delinsC · rs2483489255 · VCV3255073

Pathogenic Single submitter

Classification

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

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 12	GERP 1.6, 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: TAB2
Protein: p.Asp605fs
Coding: c.1813_1814delinsC
MANE Select: NM_001292034
dbSNP: rs2483489255
Type: Indel
Location: chr6:149398017 (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 c.1764+1G>A Pathogenic/Likely pathogenic ★★ same condition
TAB2 p.Arg574Ter Likely pathogenic ★★ same condition
TAB2 p.Arg96Lys Uncertain significance ★★ ⚠ same condition
TAB2 p.His6Arg Uncertain significance ★★ ⚠ same condition
TAB2 p.Ile68Thr Uncertain significance ★★ same condition
TAB2 p.Ser50Asn Uncertain significance ★★ ⚠ same condition
TAB2 p.Gln7= Benign/Likely benign ★★ same condition
TAB2 p.Gln127Ter 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/tab2-p-asp605fs (accessed [today's date]).

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