NM_004130.4(GYG1):c.143+3G>C AND Polyglucosan body myopathy 2

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2014)

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:
RCV000150098.4

Allele description [Variation Report for NM_004130.4(GYG1):c.143+3G>C]

NM_004130.4(GYG1):c.143+3G>C

Gene:
GYG1:glycogenin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q24
Genomic location:
Preferred name:
NM_004130.4(GYG1):c.143+3G>C
HGVS:
  • NC_000003.12:g.148994280G>C
  • NG_027677.1:g.7873G>C
  • NM_001184720.2:c.143+3G>C
  • NM_001184721.2:c.143+3G>C
  • NM_004130.3:c.143+3G>C
  • NM_004130.4:c.143+3G>CMANE SELECT
  • NC_000003.11:g.148712067G>C
  • p.Asp3Glufs*4
Nucleotide change:
IVS2DS, G-C, +3
Links:
OMIM: 603942.0003; dbSNP: rs370652040
NCBI 1000 Genomes Browser:
rs370652040
Molecular consequence:
  • NM_001184720.2:c.143+3G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001184721.2:c.143+3G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004130.3:c.143+3G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004130.4:c.143+3G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Polyglucosan body myopathy 2 (PGBM2)
Identifiers:
MONDO: MONDO:0014526; MedGen: C4015452; Orphanet: 456369; OMIM: 616199

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000196922OMIMno assertion criteria providedPathogenic
(Dec 1, 2014)
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 new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A.

Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284. Epub 2014 Oct 31.

PubMed [citation]
PMID:
25272951
PMCID:
PMC4348070

Details of each submission

From OMIM, SCV000196922.2

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

Description

In 2 unrelated patients with onset of polyglucosan body myopathy-2 (PGBM2; 616199) in the first 2 decades of life, Malfatti et al. (2014) identified a homozygous G-to-C transversion (c.143+3G-C) in intron 2 of the GYG1 gene, resulting in aberrant splicing with the skipping of exon 2, a frameshift, and premature termination (Asp3GlufsTer4). Two additional unrelated patients with later onset of the disorder were found to be compound heterozygous for this splice site mutation and another pathogenic GYG1 mutation (see, e.g., R324X, 603942.0004).

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

Last Updated: Oct 25, 2021

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