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NM_000152.5(GAA):c.727G>A (p.Asp243Asn) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 8, 2017
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:
RCV000520829.1

Allele description [Variation Report for NM_000152.5(GAA):c.727G>A (p.Asp243Asn)]

NM_000152.5(GAA):c.727G>A (p.Asp243Asn)

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.727G>A (p.Asp243Asn)
HGVS:
  • NC_000017.11:g.80107591G>A
  • NG_009822.1:g.11036G>A
  • NM_000152.5:c.727G>AMANE SELECT
  • NM_001079803.3:c.727G>A
  • NM_001079804.3:c.727G>A
  • NP_000143.2:p.Asp243Asn
  • NP_001073271.1:p.Asp243Asn
  • NP_001073272.1:p.Asp243Asn
  • LRG_673t1:c.727G>A
  • LRG_673:g.11036G>A
  • NC_000017.10:g.78081390G>A
  • NM_000152.3:c.727G>A
Protein change:
D243N
Links:
dbSNP: rs1555599600
NCBI 1000 Genomes Browser:
rs1555599600
Molecular consequence:
  • NM_000152.5:c.727G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.727G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.727G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000618321GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Aug 8, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000618321.1

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

Description

The D243N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D243N variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D243N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (A237V, A242V, L248P) have been reported in the Human Gene Mutation Database in association with Pompe disease (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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

Last Updated: Nov 5, 2022