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NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 28, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003324712.7

Allele description [Variation Report for NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)]

NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)

Gene:
PYGM:glycogen phosphorylase, muscle associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)
HGVS:
  • NC_000011.10:g.64751346G>A
  • NG_013018.1:g.14370C>T
  • NM_001164716.1:c.1684C>T
  • NM_005609.4:c.1948C>TMANE SELECT
  • NP_001158188.1:p.Arg562Ter
  • NP_005600.1:p.Arg650Ter
  • NC_000011.9:g.64518818G>A
  • NM_005609.2:c.1948C>T
  • NM_005609.3:c.1948C>T
  • NM_005609.3:c.[1948C>T]
  • p.Arg650*
Protein change:
R562*
Links:
dbSNP: rs114073621
NCBI 1000 Genomes Browser:
rs114073621
Molecular consequence:
  • NM_001164716.1:c.1684C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005609.4:c.1948C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004013896Gene Friend Way, National Innovation Center
no assertion criteria provided
Likely pathogenic
(Jul 28, 2023) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedclinical testing

Details of each submission

From Gene Friend Way, National Innovation Center, SCV004013896.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This sequence change creates a premature translational stop signal (p.Arg650*) in the PYGM gene. It is expected to result in an absent or disrupted protein product. This premature translational stop signal has been observed in individuals with glycogen storage disease type V (PMID: 17324573). Recent genetic and functional studies have identified a role of abnormal glycinergic signaling in Autism Spectrum Disorder (ASD) (PMID: 28270747). In our study, a child diagnosed with ASD is the carrier of this mutation and also PRNP (rs1799990).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: May 19, 2024