Is ARID2 p.Asp1405Phe (c.4213_4214delinsTT) pathogenic?

ARID2 p.Asp1405Phe (c.42134214delinsTT) is classified Uncertain significance in ARID2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-03). Absent from gnomAD.

How common is ARID2 p.Asp1405Phe (c.4213_4214delinsTT) in the general population?

ARID2 p.Asp1405Phe (c.4213_4214delinsTT) is absent from gnomAD (gnomAD).

ARID2 p.Asp1405Phe

c.4213_4214delinsTT · rs2547663275 · VCV2637537

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 2.9, phastCons 1
Regional constraint	o/e 1.05	unconstrained · MANE · 1,024 bp · p 0.35 · regional, not allelic

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: ARID2
Protein: p.Asp1405Phe
Coding: c.4213_4214delinsTT
MANE Select: NM_152641
dbSNP: rs2547663275
Type: Indel
Location: chr12:45852336 (GRCh38)
Gene constraint: LOEUF 0.224 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 52.30 · 2 PDB
Residue 1405: a UniProt-annotated variant site (in css6)

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

Similar variants

ARID2 c.284+3_284+13delinsAAT Likely pathogenic ★ same type
ARID2 p.Cys1814fs Likely pathogenic ★ same type
ARID2 p.Gln1823fs Likely pathogenic ★ same type
ARID2 p.Phe650fs Likely pathogenic ★ same type
ARID2 p.Thr1514fs Pathogenic ★ same type
ARID2 p.Ser4Lys Uncertain significance ★ 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/arid2-p-asp1405phe (accessed [today's date]).

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