NM_000642.3(AGL):c.1735+1G>T AND Glycogen storage disease IIIa

Clinical significance:Pathogenic (Last evaluated: Jul 16, 1996)

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:
RCV000001159.3

Allele description [Variation Report for NM_000642.3(AGL):c.1735+1G>T]

NM_000642.3(AGL):c.1735+1G>T

Gene:
AGL:amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p21.2
Genomic location:
Preferred name:
NM_000642.3(AGL):c.1735+1G>T
HGVS:
  • NC_000001.11:g.99880047G>T
  • NG_012865.1:g.34964G>T
  • NM_000028.2:c.1735+1G>T
  • NM_000642.3:c.1735+1G>TMANE SELECT
  • NM_000643.2:c.1735+1G>T
  • NM_000644.2:c.1735+1G>T
  • NM_000646.2:c.1687+1G>T
  • NC_000001.10:g.100345603G>T
  • NM_000642.2:c.1735+1G>T
  • c.1735+1G>T
Note:
NCBI staff reviewed the sequence information reported in PubMed 8702417 Fig. 2A to determine the location of this allele on the current reference sequence.
Nucleotide change:
IVS14DS, G-T, +1
Links:
OMIM: 610860.0007; dbSNP: rs199922945
NCBI 1000 Genomes Browser:
rs199922945
Molecular consequence:
  • NM_000028.2:c.1735+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000642.3:c.1735+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000643.2:c.1735+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000644.2:c.1735+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000646.2:c.1687+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Glycogen storage disease IIIa (GSD IIIa)
Identifiers:
MedGen: C1968739

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021309OMIMno assertion criteria providedPathogenic
(Jul 16, 1996)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.

Okubo M, Aoyama Y, Murase T.

Biochem Biophys Res Commun. 1996 Jul 16;224(2):493-9. Erratum in: Biochem Biophys Res Commun. 1996 Aug 14;225(2):695.

PubMed [citation]
PMID:
8702417

Details of each submission

From OMIM, SCV000021309.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Japanese man with glycogen storage disease type IIIa (GSD3A; 232400), Okubo et al. (1996) reported heterozygosity for a 124-bp deletion in the AGL gene, corresponding to a single exon. The deletion resulted from a G-to-T transversion at the donor splice site immediately downstream of the deletion. The mutation was predicted to result in a truncated enzyme. This was the first mutation in the AGL gene identified in a patient with GSD III. The patient was a 43-year-old Japanese man who had been diagnosed with GSD III at 18 years of age. He had hepatomegaly and muscle weakness. Family history showed no consanguinity. The patient's asymptomatic father and son were also heterozygous for the mutation. Southern blot analysis of the patient's genomic DNA showed an additional, unique EcoRI fragment of 5.8 kb, inherited from the mother (610860.0008).

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

Last Updated: Nov 27, 2021

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