Is ASNS p.Arg27fs (c.79dup) pathogenic?

ASNS p.Arg27fs (c.79dup) is classified Pathogenic in ASNS (ClinVar, Single submitter, 1 submitter; last evaluated 2023-02-09). Absent from gnomAD.

How common is ASNS p.Arg27fs (c.79dup) in the general population?

ASNS p.Arg27fs (c.79dup) is absent from gnomAD (gnomAD).

ASNS p.Arg27fs

c.79dup · rs2484698452 · VCV2962440

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
NMD	predicted	premature termination codon in exon 3 of 13
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.5	GERP 1.9, phastCons 1
Region caveats
Repeat context	seg dup	· reads may not map uniquely · confidence, not pathogenicity

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: ASNS
Protein: p.Arg27fs
Coding: c.79dup
MANE Select: NM_001673
dbSNP: rs2484698452
Type: Duplication
Location: chr7:97869077 (GRCh38)
Gene constraint: LOEUF 0.745 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 94.36 · 3 PDB
Residue 27: the glutamine amidotransferase type-2 domain; an α-helix

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

Similar variants

ASNS p.Arg27Thr Uncertain significance ★★ ⚠ same residue
ASNS p.Arg27Gly Uncertain significance ★ ⚠ same residue
ASNS p.Asn80dup Uncertain significance ★★ same type
ASNS c.1239-11dup Benign/Likely benign ★★ same type
ASNS c.775+13dup Benign ★★ same type
ASNS p.Ala197fs Pathogenic ★ same type
ASNS p.Ala287fs Pathogenic ★ same type
ASNS p.Gln284fs 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/asns-p-arg27fs (accessed [today's date]).

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