NM_000642.3(AGL):c.4456del (p.Ser1486fs) AND Glycogen storage disease IIIa

Clinical significance:Pathogenic (Last evaluated: Sep 1, 1997)

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:
RCV000001156.3

Allele description [Variation Report for NM_000642.3(AGL):c.4456del (p.Ser1486fs)]

NM_000642.3(AGL):c.4456del (p.Ser1486fs)

Gene:
AGL:amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p21.2
Genomic location:
Preferred name:
NM_000642.3(AGL):c.4456del (p.Ser1486fs)
HGVS:
  • NC_000001.11:g.99916706del
  • NG_012865.1:g.71623del
  • NM_000028.2:c.4456del
  • NM_000642.3:c.4456delMANE SELECT
  • NM_000643.2:c.4456del
  • NM_000644.2:c.4456del
  • NM_000646.2:c.4408del
  • NP_000019.2:p.Ser1486fs
  • NP_000633.2:p.Ser1486fs
  • NP_000634.2:p.Ser1486fs
  • NP_000635.2:p.Ser1486fs
  • NP_000637.2:p.Ser1470fs
  • NC_000001.10:g.100382262del
  • NM_000642.2:c.4455delT
  • NM_000642.2:c.4456del
  • NM_000642.2:c.4456delT
  • NM_000642.3:c.4456delTMANE SELECT
Protein change:
S1470fs
Links:
OMIM: 610860.0005; dbSNP: rs113994134
NCBI 1000 Genomes Browser:
rs113994134
Molecular consequence:
  • NM_000028.2:c.4456del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000642.3:c.4456del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000643.2:c.4456del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000644.2:c.4456del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000646.2:c.4408del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000021306OMIMno assertion criteria providedPathogenic
(Sep 1, 1997)
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 single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT.

Eur J Hum Genet. 1997 Sep-Oct;5(5):266-70.

PubMed [citation]
PMID:
9412782

Details of each submission

From OMIM, SCV000021306.2

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

Description

In 13 patients with GSD III (GSD3A; 232400) from 11 families, Parvari et al. (1997) identified a homozygous 1-bp deletion (4455delT) in exon 34 of the AGL gene, resulting in a frameshift and truncation of the last 30 amino acid residues of the protein. All patients were of North African Jewish descent and had liver and muscle involvement. While all patients showed the characteristic features related to the liver enzyme deficiency, the peripheral muscular impairment varied from minimal to severe, with neuromuscular involvement. The mutation appeared to be ethnic-specific as it was not seen in 18 patients of different ethnic origins.

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

Last Updated: Nov 27, 2021

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