NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) AND Glycogen storage disease, type II

Clinical significance:Likely pathogenic (Last evaluated: Jul 22, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001585686.1

Allele description [Variation Report for NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)]

NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)

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.2105G>C (p.Arg702Pro)
HGVS:
  • NC_000017.11:g.80113282G>C
  • NG_009822.1:g.16727G>C
  • NM_000152.5:c.2105G>CMANE SELECT
  • NM_001079803.3:c.2105G>C
  • NM_001079804.3:c.2105G>C
  • NP_000143.2:p.Arg702Pro
  • NP_001073271.1:p.Arg702Pro
  • NP_001073272.1:p.Arg702Pro
  • LRG_673:g.16727G>C
  • NC_000017.10:g.78087081G>C
  • NM_000152.4:c.2105G>C
Protein change:
R702P
Links:
dbSNP: rs398123172
NCBI 1000 Genomes Browser:
rs398123172
Molecular consequence:
  • NM_000152.5:c.2105G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.2105G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.2105G>C - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001810642Nilou-Genome Labcriteria provided, single submitter
Likely pathogenic
(Jul 22, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot 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 Nilou-Genome Lab, SCV001810642.1

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

Last Updated: Nov 27, 2021

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