NM_000027.4(AGA):c.369_373del (p.His124fs) AND Aspartylglucosaminuria

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000049352.1

Allele description [Variation Report for NM_000027.4(AGA):c.369_373del (p.His124fs)]

NM_000027.4(AGA):c.369_373del (p.His124fs)

Gene:
AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q34.3
Genomic location:
Preferred name:
NM_000027.4(AGA):c.369_373del (p.His124fs)
HGVS:
  • NC_000004.12:g.177439597_177439601del
  • NG_011845.2:g.7903_7907del
  • NM_000027.4:c.369_373delMANE SELECT
  • NM_001171988.2:c.369_373del
  • NP_000018.2:p.His124fs
  • NP_001165459.1:p.His124fs
  • NC_000004.11:g.178360751_178360755del
  • NM_000027.3:c.369_373delACACA
  • NR_033655.2:n.431_435del
Protein change:
H124fs
Links:
dbSNP: rs386833424
NCBI 1000 Genomes Browser:
rs386833424
Molecular consequence:
  • NM_000027.4:c.369_373del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001171988.2:c.369_373del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_033655.2:n.431_435del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000081784Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)no assertion criteria providedprobable-pathogenicnot providednot provided

PubMed (2)
[See all records that cite these PMIDs]

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference

SCV000081784

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.

Park H, Vettese MB, Fensom AH, Fisher KJ, Aronson NN Jr.

Biochem J. 1993 Mar 15;290 ( Pt 3):735-41.

PubMed [citation]
PMID:
8457202
PMCID:
PMC1132342

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

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000081784.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (2)

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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