NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 23, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000725814.1

Allele description [Variation Report for NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)]

NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)

Gene:
GAA:alpha glucosidase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
HGVS:
  • NC_000017.11:g.80118210CA[1]
  • NG_009822.1:g.21655CA[1]
  • NM_000152.3(GAA):c.2501_2502delCA
  • NM_000152.5:c.2501_2502delMANE SELECT
  • NM_001079803.3:c.2501_2502del
  • NM_001079804.3:c.2501_2502del
  • NP_000143.2:p.Thr834fs
  • NP_001073271.1:p.Thr834fs
  • NP_001073272.1:p.Thr834fs
  • LRG_673t1:c.2501_2502del
  • LRG_673:g.21655CA[1]
  • NC_000017.10:g.78092009CA[1]
  • NC_000017.10:g.78092009_78092010del
  • NC_000017.11:g.80118212_80118213delCA
  • NM_000152.3(GAA):c.2501_2502delCA
  • NM_000152.3:c.2501_2502del
  • NM_000152.3:c.2501_2502delCA
  • NM_000152.5:c.2501_2502delCAMANE SELECT
  • p.Thr834Argfs
Protein change:
T834fs
Links:
dbSNP: rs886043343
NCBI 1000 Genomes Browser:
rs886043343
Molecular consequence:
  • NM_000152.5:c.2501_2502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001079803.3:c.2501_2502del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001079804.3:c.2501_2502del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
RNA degradation by nonsense-mediated decay [Variation Ontology: 0347]
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
SCV000339572EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Feb 23, 2016)
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, SCV000339572.4

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

Last Updated: Aug 27, 2021

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