NM_000152.5(GAA):c.1547G>A (p.Trp516Ter) AND Glycogen storage disease, type II

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 26, 2019
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:: RCV001263724.4

Allele description [Variation Report for NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)]

NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)

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.1547G>A (p.Trp516Ter)

HGVS:

NC_000017.11:g.80110836G>A
NG_009822.1:g.14281G>A
NM_000152.5:c.1547G>AMANE SELECT
NM_001079803.3:c.1547G>A
NM_001079804.3:c.1547G>A
NP_000143.2:p.Trp516Ter
NP_001073271.1:p.Trp516Ter
NP_001073272.1:p.Trp516Ter
LRG_673t1:c.1547G>A
LRG_673:g.14281G>A
NC_000017.10:g.78084635G>A
NM_000152.3:c.1547G>A

Protein change:

W516*

Links:

dbSNP: rs2039217093

NCBI 1000 Genomes Browser:

rs2039217093

Molecular consequence:

NM_000152.5:c.1547G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001079803.3:c.1547G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001079804.3:c.1547G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001441817	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))	Likely pathogenic (May 26, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001441817

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))

Likely pathogenic
(May 26, 2019)

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 Myriad Genetics, Inc., SCV001441817.1

#	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: May 7, 2024

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