NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) AND Lynch syndrome II

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2004)

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:
RCV000018631.27

Allele description [Variation Report for NM_000249.3(MLH1):c.806C>G (p.Ser269Ter)]

NM_000249.3(MLH1):c.806C>G (p.Ser269Ter)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.3(MLH1):c.806C>G (p.Ser269Ter)
HGVS:
  • NC_000003.12:g.37017521C>G
  • NG_007109.2:g.29172C>G
  • NM_000249.3:c.806C>G
  • NP_000240.1:p.Ser269Ter
  • LRG_216t1:c.806C>G
  • LRG_216:g.29172C>G
  • LRG_216p1:p.Ser269Ter
  • NC_000003.11:g.37059012C>G
Protein change:
S269*; SER269TER
Links:
OMIM: 120436.0021; dbSNP: 63750691
NCBI 1000 Genomes Browser:
rs63750691
Molecular consequence:
  • NM_000249.3:c.806C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Lynch syndrome II (HNPCC2)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; MLH1-Related Hereditary Non-Polyposis Colon Cancer; MLH1-Related Lynch Syndrome
Identifiers:
MedGen: C1333991; Orphanet: 144; OMIM: 609310

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038914OMIMno assertion criteria providedPathogenic
(Dec 1, 2004)
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

Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.

Rey JM, Noruzinia M, Brouillet JP, Sarda P, Maudelonde T, Pujol P.

Cancer Genet Cytogenet. 2004 Dec;155(2):149-51.

PubMed [citation]
PMID:
15571801

Details of each submission

From OMIM, SCV000038914.1

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

Description

In a 30-year-old patient who had developed colon cancer (609310) at the age of 22 years, Rey et al. (2004) identified a homozygous 806C-G transversion in exon 10 of the MLH1 gene, resulting in a ser269-to-thr (S269T) substitution. Many members of the paternal and maternal families presented with colon cancer, gastric polyposis, or breast cancer. A founder effect was proposed because both ancestral families originated from the same small region in the south of France. A complete MLH1 inactivation was thought to have been responsible for the precocity of colon cancer and the more aggressive phenotype in this patient. Relatives could not be studied.

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

Last Updated: Sep 22, 2017