GENE REFERENCE / HGNC:291

ADSL

adenylosuccinate lyase

protein-coding gene22q13.1Gene information

What does this gene do?

The ADSL gene provides instructions for making an enzyme called adenylosuccinate lyase. This enzyme performs two steps in the process that produces (synthesizes) purine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP that serve as energy sources in the cell. Adenylosuccinate lyase and other enzymes involved in purine synthesis form a group of proteins (a protein complex) called the purinosome. This complex comes together when there is a shortage of purines or when a large amount of purines is needed, such as during cell division. As part of this complex, adenylosuccinate lyase converts a molecule called succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and converts succinyladenosine monophosphate (SAMP) to adenosine monophosphate (AMP).

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2014-12.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
adenylosuccinate lyase deficiencyMONDO:0007068 · Evaluated 2020-09-06	Autosomal recessive	DefinitiveIntellectual Disability and Autism Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 958
Submissions for variants in or overlapping this gene: 1,427
Submissions explicitly reporting this gene: 1,389
Alleles reported pathogenic / likely pathogenic: 78
VariationIDs with uncertain significance: 525
VariationIDs with conflicting classifications: 49

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ADSL?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 78 alleles in ADSL reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ADSL.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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