NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Aug 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000728685.1

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]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000856289EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(Aug 16, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000856289.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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