Is ARID2 p.Ile723fs (c.2168_2174del) pathogenic?

ARID2 p.Ile723fs (c.21682174del) is classified Pathogenic in ARID2 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-28). Associated with Inborn genetic diseases.

What condition is associated with ARID2 p.Ile723fs (c.2168_2174del)?

ARID2 p.Ile723fs (c.2168_2174del) is associated with Inborn genetic diseases (ClinVar).

ARID2 p.Ile723fs

c.2168_2174del · VCV3314491

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Inborn genetic diseases

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 haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 15 of 21
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.1	GERP 2.7, phastCons 1

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

Variant & gene context

Gene: ARID2
Protein: p.Ile723fs
Coding: c.2168_2174del
MANE Select: NM_152641
Type: Deletion
Location: chr12:45850288 (GRCh38)
Gene constraint: LOEUF 0.224 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 52.30 · 2 PDB
Residue 723: a UniProt-annotated variant site (in css6)

Full ARID2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ARID2 p.Asp444fs Pathogenic ★ same condition
ARID2 p.Leu1148fs Pathogenic ★ same condition
ARID2 p.Lys555fs Pathogenic ★ same condition
ARID2 p.Thr56fs Pathogenic ★ same condition
ARID2 p.Tyr939fs Pathogenic ★ same condition
ARID2 p.Arg1769Ter Pathogenic ★★ same condition
ARID2 p.Ala1335Glu Uncertain significance ★★ ⚠ same condition
ARID2 p.Asn1280Asp 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/arid2-p-ile723fs (accessed [today's date]).

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