rs63750540
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 6 | Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2) |
| (T;T) | 6 | Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 37025979 |
| Gene | MLH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750540 |
| dbSNP (classic) | rs63750540 |
| ClinGen | rs63750540 |
| ebi | rs63750540 |
| HLI | rs63750540 |
| Exac | rs63750540 |
| Gnomad | rs63750540 |
| Varsome | rs63750540 |
| LitVar | rs63750540 |
| Map | rs63750540 |
| PheGenI | rs63750540 |
| Biobank | rs63750540 |
| 1000 genomes | rs63750540 |
| hgdp | rs63750540 |
| ensembl | rs63750540 |
| geneview | rs63750540 |
| scholar | rs63750540 |
| rs63750540 | |
| pharmgkb | rs63750540 |
| gwascentral | rs63750540 |
| openSNP | rs63750540 |
| 23andMe | rs63750540 |
| SNPshot | rs63750540 |
| SNPdbe | rs63750540 |
| MSV3d | rs63750540 |
| GWAS Ctlg | rs63750540 |
| Max Magnitude | 6 |
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 23788249
]
| 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, RCV000132422.3, RCV000202201.3, |
[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 12658575] 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 15173238] 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.
