U.S. flag

An official website of the United States government

NM_000152.5(GAA):c.858+24G>C AND Glycogen storage disease, type II

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 10, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000791247.1

Allele description [Variation Report for NM_000152.5(GAA):c.858+24G>C]

NM_000152.5(GAA):c.858+24G>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.858+24G>C
HGVS:
  • NC_000017.11:g.80107746G>C
  • NG_009822.1:g.11191G>C
  • NM_000152.5:c.858+24G>CMANE SELECT
  • NM_001079803.3:c.858+24G>C
  • NM_001079804.3:c.858+24G>C
  • LRG_673:g.11191G>C
  • NC_000017.10:g.78081545G>C
Links:
dbSNP: rs770608668
NCBI 1000 Genomes Browser:
rs770608668
Molecular consequence:
  • NM_000152.5:c.858+24G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001079803.3:c.858+24G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001079804.3:c.858+24G>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000925970Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
no assertion criteria provided
Benign
(Jul 10, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asiangermlineno1not providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.

Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J.

BMC Med Genet. 2019 Sep 11;20(1):156. doi: 10.1186/s12881-019-0878-8.

PubMed [citation]
PMID:
31510962
PMCID:
PMC6737665

Details of each submission

From Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, SCV000925970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providednot providedclinical testing PubMed (1)

Description

This variant is considered benign based on prediction by multiple in silico algorithms (SIFT, Polyphen-2, PredictSNP2, CADD, DANN, FATHMM, and FunSeq2).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 18, 2023