NM_000038.6(APC):c.4473dup (p.Ala1492fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 25, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000790817.1

Allele description [Variation Report for NM_000038.6(APC):c.4473dup (p.Ala1492fs)]

NM_000038.6(APC):c.4473dup (p.Ala1492fs)

Gene:
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.6(APC):c.4473dup (p.Ala1492fs)
HGVS:
  • NC_000005.10:g.112840067dup
  • NG_008481.4:g.152547dup
  • NM_000038.6:c.4473dupMANE SELECT
  • NM_001127510.3:c.4473dup
  • NM_001127511.3:c.4419dup
  • NM_001354895.2:c.4473dup
  • NM_001354896.2:c.4527dup
  • NM_001354897.2:c.4503dup
  • NM_001354898.2:c.4398dup
  • NM_001354899.2:c.4389dup
  • NM_001354900.2:c.4350dup
  • NM_001354901.2:c.4296dup
  • NM_001354902.2:c.4200dup
  • NM_001354903.2:c.4170dup
  • NM_001354904.2:c.4095dup
  • NM_001354905.2:c.3993dup
  • NM_001354906.2:c.3624dup
  • NP_000029.2:p.Ala1492fs
  • NP_001120982.1:p.Ala1492fs
  • NP_001120983.2:p.Ala1474fs
  • NP_001341824.1:p.Ala1492fs
  • NP_001341825.1:p.Ala1510fs
  • NP_001341826.1:p.Ala1502fs
  • NP_001341827.1:p.Ala1467fs
  • NP_001341828.1:p.Ala1464fs
  • NP_001341829.1:p.Ala1451fs
  • NP_001341830.1:p.Ala1433fs
  • NP_001341831.1:p.Ala1401fs
  • NP_001341832.1:p.Ala1391fs
  • NP_001341833.1:p.Ala1366fs
  • NP_001341834.1:p.Ala1332fs
  • NP_001341835.1:p.Ala1209fs
  • LRG_130:g.152547dup
  • NC_000005.9:g.112175764dup
  • NM_000038.5:c.4473dupT
Protein change:
A1209fs
Links:
dbSNP: rs398123122
NCBI 1000 Genomes Browser:
rs398123122
Molecular consequence:
  • NM_000038.6:c.4473dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127510.3:c.4473dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127511.3:c.4419dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354895.2:c.4473dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354896.2:c.4527dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354897.2:c.4503dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354898.2:c.4398dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354899.2:c.4389dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354900.2:c.4350dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354901.2:c.4296dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354902.2:c.4200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354903.2:c.4170dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354904.2:c.4095dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354905.2:c.3993dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354906.2:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000226394EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Jun 25, 2013)
germlineclinical testing

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

Citation Link

Description

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

SCV000226394

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot 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, SCV000226394.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 7, 2021

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