NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 3, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000493446.2

Allele description [Variation Report for NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)]

NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)

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.2269C>T (p.Gln757Ter)
HGVS:
  • NC_000017.11:g.80117047C>T
  • NG_009822.1:g.20492C>T
  • NM_000152.5:c.2269C>TMANE SELECT
  • NM_001079803.3:c.2269C>T
  • NM_001079804.3:c.2269C>T
  • NP_000143.2:p.Gln757Ter
  • NP_001073271.1:p.Gln757Ter
  • NP_001073272.1:p.Gln757Ter
  • LRG_673t1:c.2269C>T
  • LRG_673:g.20492C>T
  • NC_000017.10:g.78090846C>T
  • NM_000152.3:c.2269C>T
  • NM_000152.4(GAA):c.2269C>T
  • p.Gln757Ter
Protein change:
Q757*
Links:
dbSNP: rs200483245
NCBI 1000 Genomes Browser:
rs200483245
Molecular consequence:
  • NM_000152.5:c.2269C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001079803.3:c.2269C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001079804.3:c.2269C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000582366GeneDxcriteria provided, single submitter
Pathogenic
(Sep 3, 2015)
germlineclinical testing

Citation Link,

SCV002023816PerkinElmer Genomicsno assertion criteria providedPathogenic
(Jan 23, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582366.3

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

Description

The Q757X nonsense pathogenic variant in the GAA gene has been reported previously in a patient with adult-onsetGSDII, who also harbored the common c.-32-13 T>G variant (McCready et al., 2007). This pathogenic variant ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNAdecay. The Q757X pathogenic variant was not observed in approximately 6,500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations

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

From PerkinElmer Genomics, SCV002023816.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 28, 2021

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