NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) AND Glycogen storage disease, type V

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 10, 2017
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:: RCV000666086.1

Allele description [Variation Report for NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del)]

NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del)

Gene:

PYGM:glycogen phosphorylase, muscle associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q13.1

Genomic location:

Preferred name:

NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del)

HGVS:

NC_000011.10:g.64759828_64759836del
NG_013018.1:g.5884_5892del
NM_001164716.1:c.67_75del
NM_005609.4:c.67_75delMANE SELECT
NP_001158188.1:p.Glu23_Val25del
NP_005600.1:p.Glu23_Val25del
NC_000011.9:g.64527300_64527308del
NM_005609.2:c.67_75del9

Links:

dbSNP: rs1555136828

NCBI 1000 Genomes Browser:

rs1555136828

Molecular consequence:

NM_001164716.1:c.67_75del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_005609.4:c.67_75del - inframe_deletion - [Sequence Ontology: SO:0001822]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000790326	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Mar 10, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000790326

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Mar 10, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000790326.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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