NM_000038.5(APC):c.2731G>T (p.Glu911Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 14, 2013)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000077985.3

Allele description [Variation Report for NM_000038.5(APC):c.2731G>T (p.Glu911Ter)]

NM_000038.5(APC):c.2731G>T (p.Glu911Ter)

Gene:
APC:APC, WNT signaling pathway regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.5(APC):c.2731G>T (p.Glu911Ter)
HGVS:
  • NC_000005.10:g.112838325G>T
  • NG_008481.4:g.150805G>T
  • NM_000038.5:c.2731G>T
  • NM_001127510.2:c.2731G>T
  • NM_001127511.2:c.2677G>T
  • NP_000029.2:p.Glu911Ter
  • NP_001120982.1:p.Glu911Ter
  • NP_001120983.2:p.Glu893Ter
  • LRG_130:g.150805G>T
  • LRG_130p1:p.Glu911Ter
  • LRG_130p2:p.Glu911Ter
  • NC_000005.9:g.112174022G>T
  • NP_000029.2:p.Glu911*
Protein change:
E893*
Links:
dbSNP: 398123119
NCBI 1000 Genomes Browser:
rs398123119
Molecular consequence:
  • NM_000038.5:c.2731G>T - nonsense - [Sequence Ontology: SO:0001587]
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
SCV000109817EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsno assertion criteria providedPathogenic
(Mar 14, 2013)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided98not providedclinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23757202

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000109817.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing
(GTR000501393)
PubMed (1)
2not provided0not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown98not providednot provided
(GTR000501393)
1not providednot providednot provided
2germlineunknownnot providednot providednot provided0not providednot providednot provided

Last Updated: Nov 20, 2017