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NM_000152.5(GAA):c.-32-13T>G AND Glycogen storage disease, type IV

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 19, 2022
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:
RCV002288463.3

Allele description [Variation Report for NM_000152.5(GAA):c.-32-13T>G]

NM_000152.5(GAA):c.-32-13T>G

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.-32-13T>G
Other names:
IVS1-13T>G
HGVS:
  • NC_000017.11:g.80104542T>G
  • NG_009822.1:g.7987T>G
  • NM_000152.5:c.-32-13T>GMANE SELECT
  • NM_001079803.3:c.-32-13T>G
  • NM_001079804.3:c.-32-13T>G
  • LRG_673t1:c.-32-13T>G
  • LRG_673:g.7987T>G
  • NC_000017.10:g.78078341T>G
  • NM_000152.3:c.-32-13T>G
  • NM_000152.4:c.-32-13T>G
  • NM_001079803.1:c.-32-13T>G
  • NM_001079804.3:c.-32-13T>G
Nucleotide change:
IVS1AS, T-G, -13
Links:
OMIM: 606800.0006; dbSNP: rs386834236
NCBI 1000 Genomes Browser:
rs386834236
Molecular consequence:
  • NM_000152.5:c.-32-13T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001079803.3:c.-32-13T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001079804.3:c.-32-13T>G - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
  • Unknown function
  • unknown functional consequence
Observations:
10

Condition(s)

Name:
Glycogen storage disease, type IV (GSD4)
Synonyms:
GBE1 DEFICIENCY; GLYCOGENOSIS IV; GSD IV; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009292; MedGen: C0017923; Orphanet: 367; OMIM: 232500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002581250MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 19, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes10not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From MGZ Medical Genetics Center, SCV002581250.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided10not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided10not providednot providednot provided

Last Updated: Nov 3, 2024