NM_000038.5(APC):c.3162delC (p.His1054Glnfs) AND Familial multiple polyposis syndrome

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

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000035070.2

Allele description [Variation Report for NM_000038.5(APC):c.3162delC (p.His1054Glnfs)]

Gene:
APC:adenomatous polyposis coli [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.5(APC):c.3162delC (p.His1054Glnfs)
HGVS:
  • NC_000005.10:g.112838756delC
  • NG_008481.4:g.151236delC
  • NM_000038.5:c.3162delC
  • NM_001127510.2:c.3162delC
  • NM_001127511.2:c.3108delC
  • NP_000029.2:p.His1054Glnfs
  • NP_001120982.1:p.His1054Glnfs
  • NP_001120983.2:p.His1036Glnfs
  • LRG_130:g.151236delC
  • LRG_130p1:p.His1054Glnfs
  • LRG_130p2:p.His1054Glnfs
  • NC_000005.9:g.112174453delC
  • NM_000038.4:c.3162delC
  • c.3162delC
  • p.His1054GlnfsX2
Links:
dbSNP: 397515733
NCBI 1000 Genomes Browser:
rs397515733
Molecular consequence:
  • NM_000038.5:c.3162delC - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Familial multiple polyposis syndrome
Synonyms:
Adenomatous polyposis coli; Familial adenomatous polyposis of the colon; Familial polyposis of the colon; See all synonyms [MedGen]
Identifiers:
MedGen: C0032580; OMIM: 175100

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000058710Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicineclassified by single submitterPathogenic
(Nov 14, 2013)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided51not providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000058710.2

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided

Description

The His1054fs variant in APC has now been identified by our laboratory in 1 Asian adult with FAP and in four asymptomatic relatives under age 21. It has not been identified in large population studies. This frameshift variant is predicted to alter the proteinÕs amino acid sequence beginning at position 1054 and lead to a premature termination codon 2 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the APC gene is an established disease mechanism in individuals with FAP. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM) based on the predicted impact on the protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided5not provided1not provided

Last Updated: Feb 27, 2015

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