Is ADAR p.Arg1116fs (c.3348del) pathogenic?

ADAR p.Arg1116fs (c.3348del) is classified Pathogenic in ADAR (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-01). Absent from gnomAD.

How common is ADAR p.Arg1116fs (c.3348del) in the general population?

ADAR p.Arg1116fs (c.3348del) is absent from gnomAD (gnomAD).

ADAR p.Arg1116fs

c.3348del · rs2526450124 · VCV2639372

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

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 14 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.7, 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: ADAR
Protein: p.Arg1116fs
Coding: c.3348del
MANE Select: NM_001111
dbSNP: rs2526450124
Type: Deletion
Location: chr1:154585312 (GRCh38)
Gene constraint: LOEUF 0.449 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 68.86 · 24 PDB
Residue 1116: the a to i editase domain

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

Similar variants

ADAR p.Arg1116= Likely benign ★ same residue
ADAR p.Ala813fs Pathogenic/Likely pathogenic ★★ same type
ADAR p.Ala220_Gly268del Uncertain significance ★★ same type
ADAR c.2886-11_2886-10del Benign/Likely benign ★★ same type
ADAR c.2886-1del Likely pathogenic ★ same type
ADAR p.Arg91fs Pathogenic ★ same type
ADAR p.Asn857fs Pathogenic ★ same type
ADAR p.Asp1087fs Pathogenic ★ 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/adar-p-arg1116fs (accessed [today's date]).

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