Is ASL c.*287C>T pathogenic?

ASL c.287C>T is classified Benign in ASL (ClinVar, Multiple submitters, 3 submitters; last evaluated 2018-07-05). Common (popmax 23.2%, mid) — too common for a highly-penetrant pathogenic allele; Associated with argininosuccinic aciduria.

What condition is associated with ASL c.*287C>T?

ASL c.*287C>T is associated with argininosuccinic aciduria (ClinVar).

How is Argininosuccinic aciduria inherited?

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

ASL c.*287C>T

Q: How common is ASL c.*287C>T in the general population?

ASL c.*287C>T is common (popmax 23.2%, mid) — too common for a highly-penetrant pathogenic allele (gnomAD).

rs160644 · VCV360574

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Common

common (popmax 23.2%, mid) — too common for a highly-penetrant pathogenic allele

Conditions

argininosuccinic aciduria

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.17	GERP -1.5
Overall
CADD	1.162	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 23.2% Middle Eastern · 409/1,766 alleles

Filtering AF 21.3% ClinGen BA1/BS1 input FAF95, joint · FAF99 20.6%

Overall 12% 61,098/509,428 alleles · common

Ancestry group	Frequency	1 in
Middle Easterngrpmax	23.2%	4
Amishnot grpmax-eligible	21.5%	5
South Asian	19.2%	5
Admixed American	17.7%	6
Ashkenazi Jewishnot grpmax-eligible	17.5%	6
East Asian	16.2%	6
Remaining individualsnot grpmax-eligible	12.2%	8
European (non-Finnish)	11%	9
African / African-American	6.2%	16
Finnishnot grpmax-eligible	5.69%	18

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ASL
Coding: c.*287C>T
MANE Select: NM_000048
dbSNP: rs160644
Type: single nucleotide variant
Location: chr7:66093199 (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 c.1062+5G>C Likely pathogenic ★★ same condition
ASL c.1143+1G>T Pathogenic/Likely pathogenic ★★ same condition
ASL c.13-1G>C Pathogenic/Likely pathogenic ★★ same condition
ASL c.291+1G>T Likely pathogenic ★★ same condition
ASL c.348+1G>A Pathogenic/Likely pathogenic ★★ same condition
ASL c.349-1G>A Likely pathogenic ★★ same condition
ASL c.446+1G>A Pathogenic ★★ same condition
ASL c.446+2T>C 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-c-star-287c-t (accessed [today's date]).

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