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rs200165598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 4 Possible polyp associated variant, but of uncertain significance
(T;T) 4 Possible polyp associated variant, but of uncertain significance
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position45332479
GeneMUTYH
is asnp
is mentioned by
dbSNPrs200165598
dbSNP (old)rs200165598
ClinGenrs200165598
ebirs200165598
HLIrs200165598
Exacrs200165598
Gnomadrs200165598
Varsomers200165598
Maprs200165598
PheGenIrs200165598
Biobankrs200165598
1000 genomesrs200165598
hgdprs200165598
ensemblrs200165598
gopubmedrs200165598
geneviewrs200165598
scholarrs200165598
googlers200165598
pharmgkbrs200165598
gwascentralrs200165598
openSNPrs200165598
23andMers200165598
23andMe allrs200165598
SNPshotrs200165598
SNPdbers200165598
MSV3drs200165598
GWAS Ctlgrs200165598
Max Magnitude4

rs200165598, also known as c.700G>A, p.Val234Met and V234M, represents a rare variant in the MUTYH gene on chromosome 1.

The rs200165598(A) variant is considered in ClinVar to be of uncertain significance, i.e. it's association with MYH-associated polyposis (thereby perhaps mimicking Lynch syndrome) is unclear.

A SNPedia user has reported to us that this variant was seen in an exome analysis of a family member who has had several rounds of colon surgery due to recurrent polyp illness, and that if it's the cause, it's apparently acting as a dominant mutation since no other questionable MUTYH gene variants were found (although there could be variants that weren't sequenced outside the exons). We encourage other SNPedia (and Promethease) users carrying the rs200165598(A) variant to report any related evidence for or against this association.

Of note, most of those with non-Lynch syndrome polyps were found to have mono-allelic MUTYH variants instead of bi-allelic [PMID 25980754OA-icon.png] Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome