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NM_000249.4(MLH1):c.131C>T (p.Ser44Phe) AND Colorectal cancer, hereditary nonpolyposis, type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 17, 1994
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000018608.41

Allele description [Variation Report for NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)]

NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)
HGVS:
  • NC_000003.12:g.36996633C>T
  • NG_007109.2:g.8284C>T
  • NG_008418.1:g.1672G>A
  • NM_000249.4:c.131C>TMANE SELECT
  • NM_001167617.3:c.-159C>T
  • NM_001167618.3:c.-593C>T
  • NM_001167619.3:c.-501C>T
  • NM_001258271.2:c.131C>T
  • NM_001258273.2:c.-517+2970C>T
  • NM_001258274.3:c.-738C>T
  • NM_001354615.2:c.-496C>T
  • NM_001354616.2:c.-501C>T
  • NM_001354617.2:c.-593C>T
  • NM_001354618.2:c.-593C>T
  • NM_001354619.2:c.-593C>T
  • NM_001354620.2:c.-159C>T
  • NM_001354621.2:c.-686C>T
  • NM_001354622.2:c.-799C>T
  • NM_001354623.2:c.-723+2743C>T
  • NM_001354624.2:c.-696C>T
  • NM_001354625.2:c.-599C>T
  • NM_001354626.2:c.-696C>T
  • NM_001354627.2:c.-696C>T
  • NM_001354628.2:c.131C>T
  • NM_001354629.2:c.131C>T
  • NM_001354630.2:c.131C>T
  • NP_000240.1:p.Ser44Phe
  • NP_000240.1:p.Ser44Phe
  • NP_001245200.1:p.Ser44Phe
  • NP_001341557.1:p.Ser44Phe
  • NP_001341558.1:p.Ser44Phe
  • NP_001341559.1:p.Ser44Phe
  • LRG_216t1:c.131C>T
  • LRG_216:g.8284C>T
  • LRG_216p1:p.Ser44Phe
  • NC_000003.11:g.37038124C>T
  • NM_000249.3:c.131C>T
  • P40692:p.Ser44Phe
Protein change:
S44F; SER44PHE
Links:
UniProtKB: P40692#VAR_004436; OMIM: 120436.0002; dbSNP: rs63751109
NCBI 1000 Genomes Browser:
rs63751109
Molecular consequence:
  • NM_001167617.3:c.-159C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167618.3:c.-593C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001167619.3:c.-501C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258274.3:c.-738C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354615.2:c.-496C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354616.2:c.-501C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354617.2:c.-593C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354618.2:c.-593C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354619.2:c.-593C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354620.2:c.-159C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354621.2:c.-686C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354622.2:c.-799C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354624.2:c.-696C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354625.2:c.-599C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354626.2:c.-696C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354627.2:c.-696C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001258273.2:c.-517+2970C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354623.2:c.-723+2743C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.4:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258271.2:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354628.2:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354629.2:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354630.2:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Colorectal cancer, hereditary nonpolyposis, type 2 (LYNCH2)
Synonyms:
COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Lynch syndrome II; MLH1-Related Lynch Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012249; MedGen: C1333991; Orphanet: 144; OMIM: 609310

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038891OMIM
no assertion criteria provided
Pathogenic
(Mar 17, 1994) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.

Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A, et al.

Nature. 1994 Mar 17;368(6468):258-61.

PubMed [citation]
PMID:
8145827

Details of each submission

From OMIM, SCV000038891.8

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

Description

In a family with hereditary nonpolyposis colon cancer (LYNCH2; 609310), Bronner et al. (1994) found that 4 affected individuals were heterozygous for a C-to-T substitution in an exon encoding amino acids 41 to 69, which corresponds to a highly conserved region of the protein. The nucleotide substitution resulted in a ser44-to-phe amino acid change.

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

Last Updated: Apr 15, 2024