Is ASL p.Asn82fs (c.243_244del) pathogenic?

ASL p.Asn82fs (c.243244del) is classified Likely pathogenic in ASL (ClinVar, Single submitter, 1 submitter; last evaluated 2021-12-16). Absent from gnomAD; Associated with argininosuccinic aciduria.

What condition is associated with ASL p.Asn82fs (c.243_244del)?

ASL p.Asn82fs (c.243_244del) is associated with argininosuccinic aciduria (ClinVar).

How common is ASL p.Asn82fs (c.243_244del) in the general population?

ASL p.Asn82fs (c.243_244del) is absent from gnomAD (gnomAD).

How is Argininosuccinic aciduria inherited?

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

ASL p.Asn82fs

c.243_244del · rs2484995561 · VCV1726369

Likely pathogenic Single submitter

Classification

Likely 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

argininosuccinic aciduria

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 4 of 17
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.1	GERP 1.6, 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: ASL
Protein: p.Asn82fs
Coding: c.243_244del
MANE Select: NM_000048
dbSNP: rs2484995561
Type: Deletion
Location: chr7:66082403 (GRCh38)
Gene constraint: LOEUF 0.937 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 96.51 · 2 PDB

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

Disease context

argininosuccinic aciduria — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Argininosuccinic aciduria (Orphanet):

Inheritance: Autosomal recessive
Onset: All ages
Prevalence: 1-9 / 1 000 000 (United States)

Similar variants

ASL p.Asn82= Likely benign ★ same residue
ASL c.1045_1062+7del Pathogenic ★★ same condition
ASL c.1143+1del Likely pathogenic ★★ same condition
ASL p.Asp38fs Pathogenic/Likely pathogenic ★★ same condition
ASL p.Leu325fs Pathogenic ★★ same condition
ASL p.Leu419fs Pathogenic/Likely pathogenic ★★ same condition
ASL p.Val211fs Pathogenic ★★ same condition
ASL p.Val349fs 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/asl-p-asn82fs (accessed [today's date]).

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