NM_005609.3(PYGM):c.2056G>A (p.Gly686Arg) AND Glycogen storage disease, type V

Clinical significance:Pathogenic (Last evaluated: Mar 1, 1998)

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:
RCV000002396.4

Allele description

NM_005609.3(PYGM):c.2056G>A (p.Gly686Arg)

Gene:
PYGM:glycogen phosphorylase, muscle associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_005609.3(PYGM):c.2056G>A (p.Gly686Arg)
HGVS:
  • NC_000011.10:g.64750497C>T
  • NG_013018.1:g.15219G>A
  • NM_001164716.1:c.1792G>A
  • NM_005609.3:c.2056G>A
  • NP_001158188.1:p.Gly598Arg
  • NP_005600.1:p.Gly686Arg
  • NC_000011.9:g.64517969C>T
  • NM_005609.2:c.2056G>A
  • P11217:p.Gly686Arg
Protein change:
G598R; GLY685ARG
Links:
UniProtKB: P11217#VAR_014011; OMIM: 608455.0008; dbSNP: rs144081869
NCBI 1000 Genomes Browser:
rs144081869
Allele Frequency:
0.00003(T), GO-ESP
Molecular consequence:
  • NM_005609.3:c.2056G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glycogen storage disease, type V (GSD5)
Identifiers:
MedGen: C0017924; Orphanet: 368; OMIM: 232600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022554OMIMno assertion criteria providedPathogenic
(Mar 1, 1998)
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

Mutation analysis in myophosphorylase deficiency (McArdle's disease).

Vorgerd M, Kubisch C, Burwinkel B, Reichmann H, Mortier W, Tettenborn B, Pongratz D, Lindemuth R, Tegenthoff M, Malin JP, Kilimann MW.

Ann Neurol. 1998 Mar;43(3):326-31.

PubMed [citation]
PMID:
9506549

Details of each submission

From OMIM, SCV000022554.3

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

Description

In 2 affected sibs with myophosphorylase deficiency (GSD5; 232600), Vorgerd et al. (1998) found compound heterozygosity for a gly685-to-arg (G685R) substitution and the nonsense mutation R50X (608455.0001).

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

Last Updated: Jul 21, 2018