Is ADAR p.Arg100fs (c.296dup) pathogenic?

ADAR p.Arg100fs (c.296dup) is classified Pathogenic in ADAR (ClinVar, Single submitter, 1 submitter; last evaluated 2022-02-22). No gnomAD frequency available for this variant; Associated with dyschromatosis symmetrica hereditaria.

What condition is associated with ADAR p.Arg100fs (c.296dup)?

ADAR p.Arg100fs (c.296dup) is associated with dyschromatosis symmetrica hereditaria, Aicardi-Goutieres syndrome 6 (ClinVar).

How common is ADAR p.Arg100fs (c.296dup) in the general population?

ADAR p.Arg100fs (c.296dup) is no gnomAD frequency available for this variant (gnomAD).

How is Dyschromatosis symmetrica hereditaria inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

ADAR p.Arg100fs

c.296dup · rs2526668775 · VCV2083083

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

dyschromatosis symmetrica hereditaria

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 2 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.9	GERP -0.46

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.Arg100fs
Coding: c.296dup
MANE Select: NM_001111
dbSNP: rs2526668775
Type: Duplication
Location: chr1:154602345 (GRCh38)
Gene constraint: LOEUF 0.449 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 68.86 · 24 PDB
Residue 100: a UniProt-annotated variant site (in)

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

Disease context

dyschromatosis symmetrica hereditaria — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Aicardi-Goutieres syndrome 6

For Dyschromatosis symmetrica hereditaria (Orphanet):

Inheritance: Autosomal dominant
Onset: Childhood

Similar variants

ADAR p.Arg100Ala Uncertain significance ★ same residue
ADAR p.Arg100= Benign ★ same residue
ADAR p.Arg100Gly Likely benign ★ same residue
ADAR p.Lys1122Ter Pathogenic/Likely pathogenic ★★ same condition
ADAR c.2497-5dup Benign/Likely benign ★★ same condition
ADAR p.Asn711fs Pathogenic ★ same condition
ADAR p.His531fs Pathogenic ★ same condition
ADAR p.Met981fs 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/adar-p-arg100fs (accessed [today's date]).

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