NM_000251.2(MSH2):c.388_389delCA (p.Gln130Valfs) AND Colorectal cancer, hereditary, nonpolyposis, type 1

Clinical significance:Pathogenic (Last evaluated: Feb 18, 2014)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000087058.2

Allele description [Variation Report for NM_000251.2(MSH2):c.388_389delCA (p.Gln130Valfs)]

Gene:
MSH2:mutS homolog 2 [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.2(MSH2):c.388_389delCA (p.Gln130Valfs)
HGVS:
  • NC_000002.12:g.47410115_47410116delCA
  • NG_007110.2:g.11992_11993delCA
  • NM_000251.2:c.388_389delCA
  • NP_000242.1:p.Gln130Valfs
  • LRG_218t1:c.388_389delCA
  • LRG_218:g.11992_11993delCA
  • LRG_218p1:p.Gln130Valfs
  • NC_000002.11:g.47637254_47637255delCA
  • NM_000251.1:c.388_389del
  • NM_000251.2:c.388_389del
Links:
OMIM: 609309.0026; dbSNP: 63750704
NCBI 1000 Genomes Browser:
rs63750704
Molecular consequence:
  • NM_000251.2:c.388_389delCA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Colorectal cancer, hereditary, nonpolyposis, type 1
Synonyms:
Colorectal cancer, hereditary nonpolyposis, type 1
Identifiers:
MedGen: CN068508

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000119872OMIMPathogenic
(Feb 18, 2014)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.

Pinheiro M, Pinto C, Peixoto A, Veiga I, Mesquita B, Henrique R, Lopes P, Sousa O, Fragoso M, Dias LM, Baptista M, Marinho C, Mangold E, Vaccaro C, Evans DG, Farrington S, Dunlop MG, Teixeira MR.

Clin Genet. 2013 Sep;84(3):244-50. doi: 10.1111/cge.12062. Epub 2012 Dec 27.

PubMed [citation]
PMID:
23170986

Details of each submission

From OMIM, SCV000119872.1

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

Description

In affected members of 16 families from northern Portugal with HNPCC (120435), Pinheiro et al. (2013) identified a heterozygous 2-bp deletion (c.388_389del) in the MSH2 gene. This mutation was found in 16% of 103 probands with HNPCC, and haplotype analysis indicated a relatively recent founder effect in this population. Haplotype analysis of 4 HNPCC1 families with this mutation from Germany, Scotland, England, and Argentina yielded different haplotype backgrounds, supporting the hypothesis that the mutation occurred de novo on multiple occasions.

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

Last Updated: Aug 5, 2014

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