NM_000152.5(GAA):c.1076-1G>A AND Glycogen storage disease, type II

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Mar 22, 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:: RCV000666182.3

Allele description [Variation Report for NM_000152.5(GAA):c.1076-1G>A]

NM_000152.5(GAA):c.1076-1G>A

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_000152.5(GAA):c.1076-1G>A

HGVS:

NC_000017.11:g.80108488G>A
NG_009822.1:g.11933G>A
NM_000152.5:c.1076-1G>AMANE SELECT
NM_001079803.3:c.1076-1G>A
NM_001079804.3:c.1076-1G>A
NM_001406741.1:c.1076-1G>A
NM_001406742.1:c.1076-1G>A
LRG_673t1:c.1076-1G>A
LRG_673:g.11933G>A
NC_000017.10:g.78082287G>A
NM_000152.3:c.1076-1G>A
NM_000152.5:c.1076-1G>CMANE SELECT

Nucleotide change:

IVS1AS, G-C, -1

Links:

LOVD 3: GAA_000529; OMIM: 606800.0018; dbSNP: rs1555600050

NCBI 1000 Genomes Browser:

rs1555600050

Molecular consequence:

NM_000152.5:c.1076-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001079803.3:c.1076-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001079804.3:c.1076-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406741.1:c.1076-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406742.1:c.1076-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Glycogen storage disease, type II (GSD2)
Synonyms:: ACID ALPHA-GLUCOSIDASE DEFICIENCY; GLYCOGENOSIS, GENERALIZED, CARDIAC FORM; GSD II; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009290; MedGen: C0017921; Orphanet: 365; OMIM: 232300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024418	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000790430	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Mar 22, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024418

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2007)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000790430

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Mar 22, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.

Gort L, Coll MJ, Chabás A.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):183-7. Epub 2007 Jul 5.

PubMed [citation]

PMID:: 17616415

Molecular diagnosis of German patients with late-onset glycogen storage disease type II.

Joshi PR, Gläser D, Schmidt S, Vorgerd M, Winterholler M, Eger K, Zierz S, Deschauer M.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S261-5. doi: 10.1007/s10545-008-0820-2. Epub 2008 Jul 10.

PubMed [citation]

PMID:: 18607768

Details of each submission

From OMIM, SCV000024418.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Gort et al. (2007) identified a G-to-C transversion in intron 6 of the GAA gene (1076-1G-C) in 14% of mutant alleles among 22 Spanish patients with glycogen storage disease II (GSD2; 232300). One patient who was homozygous for the mutation had severe infantile onset, with cardiomyopathy, cardiomegaly, and hepatomegaly.

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

From Counsyl, SCV000790430.1

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

#	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: Jun 9, 2024

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