NM_000038.5(APC):c.1100_1101delCT (p.Ser367Cysfs) AND Familial adenomatous polyposis 1

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1998)

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:
RCV000000870.3

Allele description [Variation Report for NM_000038.5(APC):c.1100_1101delCT (p.Ser367Cysfs)]

NM_000038.5(APC):c.1100_1101delCT (p.Ser367Cysfs)

Gene:
APC:APC, WNT signaling pathway regulator [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.5(APC):c.1100_1101delCT (p.Ser367Cysfs)
HGVS:
  • NC_000005.10:g.112819132_112819133delCT
  • NG_008481.4:g.131612_131613delCT
  • NM_000038.5:c.1100_1101delCT
  • NM_001127510.2:c.1100_1101delCT
  • NM_001127511.2:c.1046_1047delCT
  • NP_000029.2:p.Ser367Cysfs
  • NP_001120982.1:p.Ser367Cysfs
  • NP_001120983.2:p.Ser349Cysfs
  • LRG_130:g.131612_131613delCT
  • LRG_130p1:p.Ser367Cysfs
  • LRG_130p2:p.Ser367Cysfs
  • NC_000005.9:g.112154829_112154830delCT
  • NG_008481.4:g.131610_131611delCT
Links:
OMIM: 611731.0034; dbSNP: 1114167563; dbSNP: 387906237
NCBI 1000 Genomes Browser:
rs1114167563
Molecular consequence:
  • NM_000038.5:c.1100_1101delCT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial adenomatous polyposis 1 (FAP1)
Synonyms:
Familial Adenomatous Polyposis; POLYPOSIS, ADENOMATOUS INTESTINAL; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; See all synonyms [MedGen]
Identifiers:
MedGen: C2713442; OMIM: 175100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021020OMIMno assertion criteria providedPathogenic
(Jan 1, 1998)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations.

Curia MC, Esposito DL, Aceto G, Palmirotta R, Crognale S, Valanzano R, Ficari F, Tonelli F, Battista P, Mariani-Costantini R, Cama A.

Hum Mutat. 1998;11(3):197-201.

PubMed [citation]
PMID:
9521420

Details of each submission

From OMIM, SCV000021020.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family with an attenuated form of FAP1 (see 175100) characterized by a low number of colorectal adenomas (up to 22), Curia et al. (1998) identified a 2-bp deletion within codon 367 of exon 9 of the APC gene. This frameshift mutation was located in the portion of exon 9 that undergoes alternative splicing and was predicted to introduce a premature termination signal at codon 376 in the fraction of mature transcripts containing the alternatively spliced form of exon 9. Thus, splicing-out of the mutation site into a fraction of mRNA molecules was predicted, with the residual production of wildtype transcripts from the mutant APC alleles. Curia et al. (1998) contrasted this finding with that in a neighboring exon 9 mutation (611731.0033) that led to deletion of exon 9 and was associated with a severe FAP phenotype characterized by hundreds of colorectal adenomas. They suggested that, in addition to the mutation site, the type of mutation and transcript dosage effects contribute to the heterogeneity of disease phenotypes in FAP.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 22, 2017