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NM_000152.5(GAA):c.829_830del (p.Thr277fs) AND Glycogen storage disease, type II

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 17, 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:
RCV002309229.2

Allele description [Variation Report for NM_000152.5(GAA):c.829_830del (p.Thr277fs)]

NM_000152.5(GAA):c.829_830del (p.Thr277fs)

Gene:
GAA:alpha glucosidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000152.5(GAA):c.829_830del (p.Thr277fs)
HGVS:
  • NC_000017.11:g.80107693_80107694del
  • NG_009822.1:g.11138_11139del
  • NM_000152.5:c.829_830delMANE SELECT
  • NM_001079803.3:c.829_830del
  • NM_001079804.3:c.829_830del
  • NM_001406741.1:c.829_830delAC
  • NM_001406742.1:c.829_830delAC
  • NP_000143.2:p.Thr277Profs
  • NP_000143.2:p.Thr277fs
  • NP_001073271.1:p.Thr277fs
  • NP_001073272.1:p.Thr277fs
  • NP_001393670.1:p.Thr277Profs
  • NP_001393671.1:p.Thr277Profs
  • LRG_673t1:c.829_830del
  • LRG_673:g.11138_11139del
  • LRG_673p1:p.Thr277Profs
  • NC_000017.10:g.78081492_78081493del
  • NM_000152.3:c.829_830delAC
Protein change:
T277fs
Molecular consequence:
  • NM_000152.5:c.829_830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001079803.3:c.829_830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001079804.3:c.829_830del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406741.1:c.829_830delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406742.1:c.829_830delAC - 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
SCV002603039Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Feb 17, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002603039.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000152.3(GAA):c.829_830delAC(T277Pfs*52) is expected to be pathogenic in the context of Pompe disease. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in GAA, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 18, 2023