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NM_000027.4(AGA):c.454C>T (p.Gln152Ter) AND Aspartylglucosaminuria

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 14, 2023
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:
RCV001384971.4

Allele description

NM_000027.4(AGA):c.454C>T (p.Gln152Ter)

Gene:
AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q34.3
Genomic location:
Preferred name:
NM_000027.4(AGA):c.454C>T (p.Gln152Ter)
HGVS:
  • NC_000004.12:g.177438798G>A
  • NG_011845.2:g.8706C>T
  • NM_000027.4:c.454C>TMANE SELECT
  • NM_001171988.2:c.454C>T
  • NP_000018.2:p.Gln152Ter
  • NP_001165459.1:p.Gln152Ter
  • NC_000004.11:g.178359952G>A
  • NR_033655.2:n.516C>T
Protein change:
Q152*
Links:
dbSNP: rs991950983
NCBI 1000 Genomes Browser:
rs991950983
Molecular consequence:
  • NR_033655.2:n.516C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000027.4:c.454C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001171988.2:c.454C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Aspartylglucosaminuria (AGU)
Synonyms:
GLYCOASPARAGINASE; Aspartylglycosaminuria; Aspartylglucos-aminuria; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008830; MedGen: C0268225; Orphanet: 93; OMIM: 208400; Human Phenotype Ontology: HP:0012068

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001584678Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 14, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.

Isoniemi A, Hietala M, Aula P, Jalanko A, Peltonen L.

Hum Mutat. 1995;5(4):318-26.

PubMed [citation]
PMID:
7627186

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

Saarela J, Laine M, Oinonen C, von Schantz C, Jalanko A, Rouvinen J, Peltonen L.

Hum Mol Genet. 2001 Apr 15;10(9):983-95.

PubMed [citation]
PMID:
11309371
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001584678.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

ClinVar contains an entry for this variant (Variation ID: 1072287). This variant has not been reported in the literature in individuals affected with AGA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln152*) in the AGA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGA are known to be pathogenic (PMID: 7627186, 11309371). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Feb 28, 2024