NM_000026.4(ADSL):c.-21T>A AND Adenylosuccinate lyase deficiency

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Dec 6, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002746484.3

Allele description [Variation Report for NM_000026.4(ADSL):c.-21T>A]

NM_000026.4(ADSL):c.-21T>A

Gene:

ADSL:adenylosuccinate lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

Preferred name:

NM_000026.4(ADSL):c.-21T>A

HGVS:

NC_000022.11:g.40346538T>A
NG_007993.2:g.5039T>A
NG_145867.1:g.624T>A
NG_145868.1:g.110T>A
NM_000026.4:c.-21T>AMANE SELECT
NM_001123378.3:c.-21T>A
NM_001317923.2:c.-158T>A
NM_001363840.3:c.-21T>A
NM_001410812.1:c.-21T>A
NM_001410814.1:c.-21T>A
NM_001410816.1:c.-21T>A
NC_000022.10:g.40742542T>A
NR_134256.2:n.39T>A

Links:

dbSNP: rs183190870

NCBI 1000 Genomes Browser:

rs183190870

Molecular consequence:

NM_000026.4:c.-21T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001123378.3:c.-21T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001317923.2:c.-158T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001363840.3:c.-21T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NR_134256.2:n.39T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Adenylosuccinate lyase deficiency (ADSLD)
Synonyms:: ADSL DEFICIENCY
Identifiers:: MONDO: MONDO:0007068; MedGen: C0268126; Orphanet: 46; OMIM: 103050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003010687	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 6, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003838958	Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University	no assertion criteria provided	Likely pathogenic	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003010687

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 6, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV003838958

Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University

no assertion criteria provided

Likely pathogenic

maternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	maternal	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003010687.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant occurs in a non-coding region of the ADSL gene. It does not change the encoded amino acid sequence of the ADSL protein. This variant is present in population databases (rs183190870, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ADSL-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University, SCV003838958.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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