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NM_000026.4(ADSL):c.71C>T (p.Pro24Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 21, 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:
RCV002529825.2

Allele description [Variation Report for NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)]

NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)

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.71C>T (p.Pro24Leu)
HGVS:
  • NC_000022.11:g.40346629C>T
  • NG_007993.2:g.5130C>T
  • NM_000026.4:c.71C>TMANE SELECT
  • NM_001123378.3:c.71C>T
  • NM_001317923.2:c.-67C>T
  • NM_001363840.3:c.71C>T
  • NP_000017.1:p.Pro24Leu
  • NP_001116850.1:p.Pro24Leu
  • NP_001350769.1:p.Pro24Leu
  • NC_000022.10:g.40742633C>T
  • NM_000026.2:c.71C>T
  • NR_134256.2:n.130C>T
Protein change:
P24L
Links:
dbSNP: rs1257907226
NCBI 1000 Genomes Browser:
rs1257907226
Molecular consequence:
  • NM_001317923.2:c.-67C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000026.4:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001123378.3:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363840.3:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134256.2:n.130C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003598742Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 21, 2021) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.

Mao X, Li K, Tang B, Luo Y, Ding D, Zhao Y, Wang C, Zhou X, Liu Z, Zhang Y, Wang P, Xu Q, Sun Q, Xia K, Yan X, Jiang H, Lu S, Guo J.

Sci Rep. 2017 May 9;7(1):1625. doi: 10.1038/s41598-017-01637-z.

PubMed [citation]
PMID:
28487569
PMCID:
PMC5431663

Details of each submission

From Ambry Genetics, SCV003598742.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.71C>T (p.P24L) alteration is located in exon 1 (coding exon 1) of the ADSL gene. This alteration results from a C to T substitution at nucleotide position 71, causing the proline (P) at amino acid position 24 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2025