NM_000152.5(GAA):c.1195-1G>A AND Glycogen storage disease, type II

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 15, 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:: RCV000664532.1

Allele description [Variation Report for NM_000152.5(GAA):c.1195-1G>A]

NM_000152.5(GAA):c.1195-1G>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.1195-1G>A

HGVS:

NC_000017.11:g.80108696G>A
NG_009822.1:g.12141G>A
NM_000152.5:c.1195-1G>AMANE SELECT
NM_001079803.3:c.1195-1G>A
NM_001079804.3:c.1195-1G>A
NM_001406741.1:c.1195-1G>A
NM_001406742.1:c.1195-1G>A
LRG_673t1:c.1195-1G>A
LRG_673:g.12141G>A
NC_000017.10:g.78082495G>A
NM_000152.3:c.1195-1G>A

Links:

dbSNP: rs1555600166

NCBI 1000 Genomes Browser:

rs1555600166

Molecular consequence:

NM_000152.5:c.1195-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001079803.3:c.1195-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001079804.3:c.1195-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406741.1:c.1195-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001406742.1:c.1195-1G>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
SCV000788509	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (May 15, 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

SCV000788509

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(May 15, 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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

Gallardo E, de Luna N, Diaz-Manera J, Rojas-García R, Gonzalez-Quereda L, Flix B, de Morrée A, van der Maarel S, Illa I.

PLoS One. 2011;6(12):e29061. doi: 10.1371/journal.pone.0029061. Epub 2011 Dec 16.

PubMed [citation]

PMID:: 22194990
PMCID:: PMC3241698

Details of each submission

From Counsyl, SCV000788509.1

#	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 10, 2023

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