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NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 30, 2023
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:
RCV003298132.9

Allele description [Variation Report for NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)]

NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)

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.1726G>A (p.Gly576Ser)
HGVS:
  • NC_000017.11:g.80112072G>A
  • NG_009822.1:g.15517G>A
  • NM_000152.5:c.1726G>AMANE SELECT
  • NM_001079803.3:c.1726G>A
  • NM_001079804.3:c.1726G>A
  • NP_000143.2:p.Gly576Ser
  • NP_000143.2:p.Gly576Ser
  • NP_001073271.1:p.Gly576Ser
  • NP_001073272.1:p.Gly576Ser
  • LRG_673t1:c.1726G>A
  • LRG_673:g.15517G>A
  • LRG_673p1:p.Gly576Ser
  • NC_000017.10:g.78085871G>A
  • NM_000152.3:c.1726G>A
  • P10253:p.Gly576Ser
Protein change:
G576S
Links:
UniProtKB: P10253#VAR_004300; dbSNP: rs1800307
NCBI 1000 Genomes Browser:
rs1800307
Molecular consequence:
  • NM_000152.5:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003989440Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Benign
(Mar 30, 2023)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

New GAA mutations in Japanese patients with GSDII (Pompe disease).

Pipo JR, Feng JH, Yamamoto T, Ohsaki Y, Nanba E, Tsujino S, Sakuragawa N, Martiniuk F, Ninomiya H, Oka A, Ohno K.

Pediatr Neurol. 2003 Oct;29(4):284-7.

PubMed [citation]
PMID:
14643388

Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase".

Tajima Y, Matsuzawa F, Aikawa SI, Okumiya T, Yoshimizu M, Tsukimura T, Ikekita M, Tsujino S, Tsuji A, Edmunds T, Sakuraba H.

J Hum Genet. 2007;52(11):898-906. doi: 10.1007/s10038-007-0191-9. Epub 2007 Sep 6.

PubMed [citation]
PMID:
17805474
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV003989440.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Jul 15, 2024