NM_000038.5(APC):c.4473dupT (p.Ala1492Cysfs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 25, 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:
RCV000077991.3

Allele description [Variation Report for NM_000038.5(APC):c.4473dupT (p.Ala1492Cysfs)]

NM_000038.5(APC):c.4473dupT (p.Ala1492Cysfs)

Gene:
APC:APC, WNT signaling pathway regulator [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.5(APC):c.4473dupT (p.Ala1492Cysfs)
HGVS:
  • NC_000005.10:g.112840067dupT
  • NG_008481.4:g.152547dupT
  • NM_000038.5:c.4473dupT
  • NM_001127510.2:c.4473dupT
  • NM_001127511.2:c.4419dupT
  • NP_000029.2:p.Ala1492Cysfs
  • NP_001120982.1:p.Ala1492Cysfs
  • NP_001120983.2:p.Ala1474Cysfs
  • LRG_130:g.152547dupT
  • LRG_130p1:p.Ala1492Cysfs
  • LRG_130p2:p.Ala1492Cysfs
  • NC_000005.9:g.112175764dupT
Links:
dbSNP: 398123122
NCBI 1000 Genomes Browser:
rs398123122
Molecular consequence:
  • NM_000038.5:c.4473dupT - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000109823Emory Genetics Laboratory,Emory Universityno assertion criteria providedPathogenic
(Jun 25, 2013)
germlineclinical testing

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

Description

Frameshift: Variant is of a type predicted to cause disease.

SCV000109823

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.

PubMed [citation]
PMID:
23757202

Details of each submission

From Emory Genetics Laboratory,Emory University, SCV000109823.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing
(GTR000501393)
PubMed (1)
2not provided0not providednot providedclinical testing PubMed (1)

Description

Frameshift: Variant is of a type predicted to cause disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown98not providednot provided
(GTR000501393)
1not providednot providednot provided
2germlineunknownnot providednot providednot provided0not providednot providednot provided

Last Updated: Jan 6, 2017