APC:c.4611_4612delAG (p.Thr1537_Glu1538delinsThrIlefs) AND Gardner syndrome

Clinical significance:Pathogenic (Last evaluated: Sep 12, 2013)

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000000866.2

Allele description [Variation Report for APC:c.4611_4612delAG (p.Thr1537_Glu1538delinsThrIlefs)]

Gene:
APC:adenomatous polyposis coli [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
APC:c.4611_4612delAG (p.Thr1537_Glu1538delinsThrIlefs)
HGVS:
  • NC_000005.10:g.112840205_112840206delAG
  • NG_008481.4:g.152685_152686delAG
  • NM_000038.5:c.4611_4612delAG
  • NM_001127510.2:c.4611_4612delAG
  • NM_001127511.2:c.4557_4558delAG
  • NP_000029.2:p.Glu1538Ilefs
  • NP_001120982.1:p.Glu1538Ilefs
  • NP_001120983.2:p.Glu1520Ilefs
  • LRG_130:g.152685_152686delAG
  • LRG_130p1:p.Thr1537_Glu1538delinsThrIlefs
  • LRG_130p2:p.Thr1537_Glu1538delinsThrIlefs
  • NC_000005.9:g.112175902_112175903delAG
Links:
OMIM: 611731.0030; dbSNP: 387906236
NCBI 1000 Genomes Browser:
rs387906236
Molecular consequence:
  • NM_000038.5:c.4611_4612delAG: frameshift variant [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Gardner syndrome (GS)
Identifiers:
MedGen: C0017097
Prevalence:
2.29 to 3.2 per 100,000 individuals http://www.ncbi.nlm.nih.gov/books/NBK1345/

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000021016OMIMPathogenic
(Sep 12, 2013)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene.

Davies DR, Armstrong JG, Thakker N, Horner K, Guy SP, Clancy T, Sloan P, Blair V, Dodd C, Warnes TW, et al.

Am J Hum Genet. 1995 Nov;57(5):1151-8.

PubMed [citation]
PMID:
7485167
PMCID:
PMC1801370

APC mutations in familial adenomatous polyposis families in the Northwest of England.

Armstrong JG, Davies DR, Guy SP, Frayling IM, Evans DG.

Hum Mutat. 1997;10(5):376-80.

PubMed [citation]
PMID:
9375853

Details of each submission

From OMIM, SCV000021016.2

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 2 previously reported patients with severe Gardner phenotype (see 175100) (Davies et al., 1995), Armstrong et al. (1997) identified a 2-bp deletion (1538delAG) in the APC gene, resulting in a frameshift and premature termination. The patients were of different ethnic backgrounds and had different haplotypes, suggesting that the same mutation had arisen in 2 separate populations.

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

Last Updated: Jun 27, 2014

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