NM_000152.5(GAA):c.1194+2T>C AND Glycogen storage disease, type II

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 19, 2016
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:
RCV000409997.2

Allele description [Variation Report for NM_000152.5(GAA):c.1194+2T>C]

NM_000152.5(GAA):c.1194+2T>C

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.1194+2T>C
HGVS:
  • NC_000017.11:g.80108609T>C
  • NG_009822.1:g.12054T>C
  • NM_000152.5:c.1194+2T>CMANE SELECT
  • NM_001079803.3:c.1194+2T>C
  • NM_001079804.3:c.1194+2T>C
  • NM_001406741.1:c.1194+2T>C
  • NM_001406742.1:c.1194+2T>C
  • LRG_673t1:c.1194+2T>C
  • LRG_673:g.12054T>C
  • NC_000017.10:g.78082408T>C
  • NM_000152.3:c.1194+2T>C
Links:
dbSNP: rs1057516215
NCBI 1000 Genomes Browser:
rs1057516215
Molecular consequence:
  • NM_000152.5:c.1194+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001079803.3:c.1194+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001079804.3:c.1194+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406741.1:c.1194+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406742.1:c.1194+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000485277Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Feb 19, 2016) 		unknownclinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.

Wan L, Lee CC, Hsu CM, Hwu WL, Yang CC, Tsai CH, Tsai FJ.

J Neurol. 2008 Jun;255(6):831-8. doi: 10.1007/s00415-008-0714-0. Epub 2008 May 6.

PubMed [citation]
PMID:
18458862

Details of each submission

From Counsyl, SCV000485277.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023