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NM_000152.5(GAA):c.2772del (p.Asn925fs) AND Glycogen storage disease, type II

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 10, 2021
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:
RCV003324101.1

Allele description [Variation Report for NM_000152.5(GAA):c.2772del (p.Asn925fs)]

NM_000152.5(GAA):c.2772del (p.Asn925fs)

Gene:
GAA:alpha glucosidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000152.5(GAA):c.2772del (p.Asn925fs)
HGVS:
  • NC_000017.11:g.80118778del
  • NG_009822.1:g.22223del
  • NM_000152.5:c.2772delMANE SELECT
  • NM_001079803.3:c.2772del
  • NM_001079804.3:c.2772del
  • NM_001406741.1:c.2772del
  • NM_001406742.1:c.2772del
  • NP_000143.2:p.Asn925Thrfs
  • NP_000143.2:p.Asn925fs
  • NP_001073271.1:p.Asn925fs
  • NP_001073272.1:p.Asn925fs
  • NP_001393670.1:p.Asn925fs
  • NP_001393671.1:p.Asn925fs
  • LRG_673t1:c.2772del
  • LRG_673:g.22223del
  • LRG_673p1:p.Asn925Thrfs
  • NC_000017.10:g.78092577del
  • NM_000152.3:c.2772delC
Protein change:
N925fs
Molecular consequence:
  • NM_000152.5:c.2772del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001079803.3:c.2772del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001079804.3:c.2772del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406741.1:c.2772del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406742.1:c.2772del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004027865Institute of Human Genetics, University of Goettingen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 10, 2021) 		inheritedclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Pompe Disease.

Leslie N, Bailey L.

2007 Aug 31 [updated 2023 Nov 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301438

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 Institute of Human Genetics, University of Goettingen, SCV004027865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 3, 2023