rs34612342
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 4 | increased risk for several cancers |
| (G;G) | 5 | increased risk for several cancers |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 45332803 |
| Gene | MUTYH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34612342 |
| dbSNP (classic) | rs34612342 |
| ClinGen | rs34612342 |
| ebi | rs34612342 |
| HLI | rs34612342 |
| Exac | rs34612342 |
| Gnomad | rs34612342 |
| Varsome | rs34612342 |
| LitVar | rs34612342 |
| Map | rs34612342 |
| PheGenI | rs34612342 |
| Biobank | rs34612342 |
| 1000 genomes | rs34612342 |
| hgdp | rs34612342 |
| ensembl | rs34612342 |
| geneview | rs34612342 |
| scholar | rs34612342 |
| rs34612342 | |
| pharmgkb | rs34612342 |
| gwascentral | rs34612342 |
| openSNP | rs34612342 |
| 23andMe | rs34612342 |
| SNPshot | rs34612342 |
| SNPdbe | rs34612342 |
| MSV3d | rs34612342 |
| GWAS Ctlg | rs34612342 |
| Max Magnitude | 5 |
rs34612342, also known as c.536A>G, Tyr179Cys and Y179C, is one of the two most common pathogenic mutations in the MUTYH gene in patients of European origin. The normal allele, encoding the tyrosine, is rs34612342(A), while rs34612342(G) is the risk allele. [Mutation nomenclature according to Genbank accession number NM_001128425.1 c.536A>G, p.Tyr179Cys; alternative numbering can lead to this SNP also being called Tyr151Cys, Tyr152Cys, Tyr165Cys, or Tyr176Cys.]
Both rs34612342 and rs36053993 are considered founder mutations that first arose in ancestors who lived between 5–8 thousand years and 6–9 thousand years B.C., respectively.[PMID 23361220
]
Germline bi-allelic mutations in the MUTYH gene increase the risk of developing multiple adenomatous polyps and colorectal cancer. [PMID 11818965]
[PMID 20571908] MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck cancer susceptibility: a case control study
| ClinVar | |
|---|---|
| Risk | Rs34612342(G;G) |
| Alt | Rs34612342(G;G) |
| Reference | Rs34612342(A;A) |
| Significance | Pathogenic |
| Disease | MYH-associated polyposis Endometrial carcinoma not provided Hereditary cancer-predisposing syndrome not specified Carcinoma of colon |
| Variation | info |
| Gene | MUTYH |
| CLNDBN | MYH-associated polyposis Endometrial carcinoma not provided Hereditary cancer-predisposing syndrome not specified Carcinoma of colon |
| Reversed | 1 |
| HGVS | NC_000001.10:g.45798475T>C |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000005612.10, RCV000005613.2, RCV000079502.5, RCV000115766.10, RCV000121607.1, RCV000144631.1, |
[PMID 21273643] In vitro functional effects of XPC gene rare variants from bladder cancer patients.
