NM_000152.5(GAA):c.852G>A (p.Ala284=) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Dec 30, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000675221.5

Allele description [Variation Report for NM_000152.5(GAA):c.852G>A (p.Ala284=)]

NM_000152.5(GAA):c.852G>A (p.Ala284=)

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.852G>A (p.Ala284=)
HGVS:
  • NC_000017.11:g.80107716G>A
  • NG_009822.1:g.11161G>A
  • NM_000152.5:c.852G>AMANE SELECT
  • NM_001079803.3:c.852G>A
  • NM_001079804.3:c.852G>A
  • NP_000143.2:p.Ala284=
  • NP_001073271.1:p.Ala284=
  • NP_001073272.1:p.Ala284=
  • LRG_673t1:c.852G>A
  • LRG_673:g.11161G>A
  • NC_000017.10:g.78081515G>A
  • NM_000152.3:c.852G>A
  • NM_000152.4:c.852G>A
  • NM_000152.5(GAA):c.852G>AMANE SELECT
  • p.Ala284=
  • p.Ala284Ala
Links:
dbSNP: rs142626724
NCBI 1000 Genomes Browser:
rs142626724
Molecular consequence:
  • NM_000152.5:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079803.3:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079804.3:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000800866Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedBenign
(Dec 30, 2016)
unknownclinical testing

SCV001931987Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000800866.1

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001931987.1

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

Last Updated: Nov 27, 2021

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