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NM_000048.4(ASL):c.117del (p.Gln40fs) AND Argininosuccinate lyase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 27, 2022
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:
RCV002309155.2

Allele description [Variation Report for NM_000048.4(ASL):c.117del (p.Gln40fs)]

NM_000048.4(ASL):c.117del (p.Gln40fs)

Gene:
ASL:argininosuccinate lyase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q11.21
Genomic location:
Preferred name:
NM_000048.4(ASL):c.117del (p.Gln40fs)
HGVS:
  • NC_000007.14:g.66081907del
  • NG_009288.1:g.11119del
  • NM_000048.4:c.117delMANE SELECT
  • NM_001024943.2:c.117del
  • NM_001024944.2:c.117del
  • NM_001024946.2:c.117del
  • NP_000039.2:p.Gln40fs
  • NP_001020114.1:p.Gln40fs
  • NP_001020115.1:p.Gln40fs
  • NP_001020117.1:p.Gln40fs
  • NC_000007.13:g.65546894del
Protein change:
Q40fs
Molecular consequence:
  • NM_000048.4:c.117del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001024943.2:c.117del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001024944.2:c.117del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001024946.2:c.117del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Argininosuccinate lyase deficiency
Synonyms:
Arginino succinase deficiency; Inborn error of urea synthesis, arginino succinic type; Urea cycle disorder, arginino succinase type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008815; MedGen: C0268547; Orphanet: 23; OMIM: 207900; Human Phenotype Ontology: HP:0025630

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002602964Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Mar 27, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002602964.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_001024943.1(ASL):c.117delT(Q40Kfs*28) is expected to be pathogenic in the context of argininosuccinic aciduria. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ASL, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 24, 2022