NM_000251.2(MSH2):c.2113delG (p.Val705Trpfs) AND Lynch syndrome I

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1996)

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:
RCV000001830.2

Allele description [Variation Report for NM_000251.2(MSH2):c.2113delG (p.Val705Trpfs)]

NM_000251.2(MSH2):c.2113delG (p.Val705Trpfs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.2(MSH2):c.2113delG (p.Val705Trpfs)
HGVS:
  • NC_000002.12:g.47476474delG
  • NG_007110.2:g.78351delG
  • NM_000251.2:c.2113delG
  • NP_000242.1:p.Val705Trpfs
  • LRG_218t1:c.2113delG
  • LRG_218:g.78351delG
  • LRG_218p1:p.Val705Trpfs
  • NC_000002.11:g.47703613delG
  • NM_000251.1:c.2113del
  • NM_000251.1:c.2113delG
  • NM_000251.2:c.2113del
  • p.Val705Trpfs*5
  • p.Val705TrpfsX5
Links:
OMIM: 609309.0008; dbSNP: 63749811
NCBI 1000 Genomes Browser:
rs63749811
Molecular consequence:
  • NM_000251.2:c.2113delG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Lynch syndrome I (COCA1)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; See all synonyms [MedGen]
Identifiers:
MedGen: C2936783; Orphanet: 144; OMIM: 120435

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021986OMIMno assertion criteria providedPathogenic
(Jan 1, 1996)
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

Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer.

Jeon HM, Lynch PM, Howard L, Ajani J, Levin B, Frazier ML.

Hum Mutat. 1996;7(4):327-33.

PubMed [citation]
PMID:
8723682

Details of each submission

From OMIM, SCV000021986.1

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

Description

In 2 apparently unrelated families with familial nonpolyposis colon cancer type 1 (HNPCC1; 120435), Jeon et al. (1996) found the same mutation in exon 13 of the MSH2 gene: deletion of a single nucleotide from codon 705, changing TGT to TT. Exon 13 of the MSH2 gene was chosen for screening because it is in the middle of the most conserved region of the gene. The 2 families did not fulfill the strict Amsterdam criteria for HNPCC because each had an unaffected individual over the age of 50 with the mutation.

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

Last Updated: Jan 28, 2018