NM_000027.4(AGA):c.754G>C (p.Gly252Arg) 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:
RCV000049360.1

Allele description [Variation Report for NM_000027.4(AGA):c.754G>C (p.Gly252Arg)]

NM_000027.4(AGA):c.754G>C (p.Gly252Arg)

Gene:
AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q34.3
Genomic location:
Preferred name:
NM_000027.4(AGA):c.754G>C (p.Gly252Arg)
HGVS:
  • NC_000004.12:g.177434434C>G
  • NG_011845.2:g.13070G>C
  • NM_000027.4:c.754G>CMANE SELECT
  • NM_001171988.1:c.724G>C
  • NP_000018.2:p.Gly252Arg
  • NP_001165459.1:p.Gly242Arg
  • NC_000004.11:g.178355588C>G
  • NM_000027.3:c.754G>C
  • NR_033655.1:n.806G>C
  • P20933:p.Gly252Arg
Protein change:
G242R
Links:
UniProtKB: P20933#VAR_015431; dbSNP: rs386833432
NCBI 1000 Genomes Browser:
rs386833432
Molecular consequence:
  • NM_000027.4:c.754G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171988.1:c.724G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033655.1:n.806G>C - 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
SCV000081792Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)no assertion criteria providedprobable-pathogenicnot providednot provided

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

Description

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

SCV000081792

Summary from all submissions

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

Citations

PubMed

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), SCV000081792.1

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

Description

Converted during submission to Likely pathogenic.

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

Last Updated: Oct 7, 2021

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