Have questions? Visit https://www.reddit.com/r/SNPedia

rs63750540

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 5 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(T;T) 6 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
ReferenceGRCh38 38.1/141
Chromosome3
Position37025979
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750540
ebirs63750540
HLIrs63750540
Exacrs63750540
Varsomers63750540
Maprs63750540
PheGenIrs63750540
hapmaprs63750540
1000 genomesrs63750540
hgdprs63750540
ensemblrs63750540
gopubmedrs63750540
geneviewrs63750540
scholarrs63750540
googlers63750540
pharmgkbrs63750540
gwascentralrs63750540
openSNPrs63750540
23andMers63750540
23andMe allrs63750540
SNP Nexus

SNPshotrs63750540
SNPdbers63750540
MSV3drs63750540
GWAS Ctlgrs63750540
Max Magnitude6

rs63750540 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 11585727]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]


ClinVar
Risk rs63750540(T;T)
Alt rs63750540(T;T)
Reference rs63750540(A;A)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MLH1
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000003.11:g.37067470A>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000030213.3, RCV000132422.2, RCV000202201.2,



[PMID 10422993] Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.


[PMID 11585727] A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families.


[PMID 12658575OA-icon.png] Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.


[PMID 15173238OA-icon.png] Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption.


[PMID 18561205] A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.