NM_000251.2(MSH2):c.269_290dup22 (p.Tyr98Argfs) AND Muir-Torré syndrome

Clinical significance:Pathogenic (Last evaluated: Jun 1, 1997)

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:
RCV000001831.2

Allele description [Variation Report for NM_000251.2(MSH2):c.269_290dup22 (p.Tyr98Argfs)]

NM_000251.2(MSH2):c.269_290dup22 (p.Tyr98Argfs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.2(MSH2):c.269_290dup22 (p.Tyr98Argfs)
HGVS:
  • NC_000002.12:g.47408458_47408479dup22
  • NG_007110.2:g.10335_10356dup22
  • NM_000251.2:c.269_290dup22
  • NP_000242.1:p.Tyr98Argfs
  • LRG_218t1:c.269_290dup22
  • LRG_218:g.10335_10356dup22
  • LRG_218p1:p.Tyr98Argfs
  • NC_000002.11:g.47635597_47635618dup22
  • NG_007110.2:g.10335_10356dup
  • NM_000251.1:c.269_290dup
Links:
OMIM: 609309.0009; dbSNP: 587776529
NCBI 1000 Genomes Browser:
rs587776529
Molecular consequence:
  • NM_000251.2:c.269_290dup22 - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Muir-Torré syndrome (MRTES)
Synonyms:
MLH1-Related Hereditary Non-Polyposis Colon Cancer; MSH2-Related Hereditary Non-Polyposis Colon Cancer; MSH2-Related Muir-Torre Syndrome; See all synonyms [MedGen]
Identifiers:
MedGen: C1321489; Orphanet: 587; OMIM: 158320

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021987OMIMno assertion criteria providedPathogenic
(Jun 1, 1997)
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

Muir-Torre syndrome: clinical features and molecular genetic analysis.

Esche C, Kruse R, Lamberti C, Friedl W, Propping P, Lehmann P, Ruzicka T.

Br J Dermatol. 1997 Jun;136(6):913-7.

PubMed [citation]
PMID:
9217825

Details of each submission

From OMIM, SCV000021987.1

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

Description

Esche et al. (1997) described the case of a 62-year-old man with Muir-Torre syndrome (158320) who had rectal cancer, 2 keratoacanthomas, and multiple sebaceous adenomas, epitheliomas, and sebaceous hyperplasia. His brother and father died of colorectal cancer. A frameshift mutation leading to a truncated protein was demonstrated in the mismatch repair gene MSH2. One allele contained an insertion of 22 bp at codon 97 (after nucleotide 289) leading to a frameshift with a stop after 9 further codons. Presymptomatic molecular diagnosis could be offered to the children of the patient.

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

Last Updated: Sep 22, 2017