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NM_005609.4(PYGM):c.55dup (p.Leu19fs) AND Glycogen storage disease, type V

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 6, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003498317.2

Allele description [Variation Report for NM_005609.4(PYGM):c.55dup (p.Leu19fs)]

NM_005609.4(PYGM):c.55dup (p.Leu19fs)

Gene:
PYGM:glycogen phosphorylase, muscle associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_005609.4(PYGM):c.55dup (p.Leu19fs)
HGVS:
  • NC_000011.10:g.64759845dup
  • NG_013018.1:g.5872dup
  • NG_122877.1:g.562dup
  • NM_001164716.1:c.55dup
  • NM_005609.4:c.55dupMANE SELECT
  • NP_001158188.1:p.Leu19fs
  • NP_005600.1:p.Leu19fs
  • NC_000011.9:g.64527315_64527316insG
  • NC_000011.9:g.64527317dup
Protein change:
L19fs
Molecular consequence:
  • NM_001164716.1:c.55dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005609.4:c.55dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Glycogen storage disease, type V (GSD5)
Synonyms:
Glycogen storage disease type 5; GSD 5; McArdle disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009293; MedGen: C0017924; Orphanet: 368; OMIM: 232600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004312487Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 6, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).

Tsujino S, Shanske S, DiMauro S.

N Engl J Med. 1993 Jul 22;329(4):241-5.

PubMed [citation]
PMID:
8316268

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.

Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C.

Hum Mutat. 2006 Jul;27(7):718.

PubMed [citation]
PMID:
16786513
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004312487.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PYGM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu19Profs*9) in the PYGM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PYGM are known to be pathogenic (PMID: 8316268, 16786513).

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

Last Updated: Sep 29, 2024