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rs1801166

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 3 increased colon cancer risk
(G;G) 0 common in clinvar
Make rs1801166(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position112839543
GeneAPC
is asnp
is mentioned by
dbSNPrs1801166
ebirs1801166
HLIrs1801166
Exacrs1801166
Varsomers1801166
Maprs1801166
PheGenIrs1801166
hapmaprs1801166
1000 genomesrs1801166
hgdprs1801166
ensemblrs1801166
gopubmedrs1801166
geneviewrs1801166
scholarrs1801166
googlers1801166
pharmgkbrs1801166
gwascentralrs1801166
openSNPrs1801166
23andMers1801166
23andMe allrs1801166
SNP Nexus

SNPshotrs1801166
SNPdbers1801166
MSV3drs1801166
GWAS Ctlgrs1801166
Merged fromRs137854581
GMAF0.003673
Max Magnitude3

rs1801166, also known as c.3949G>C, p.Glu1317Gln and E1317Q, represents a rare variant in the APC gene on chromosome 5.

There are conflicting views on whether the minor rs1801166(C) allele increases risk for familial adenomatous polyposis (FAP), a disorder often leading to colorectal cancer. One publication states the presence of this minor allele raises the risk of colon cancer 11 fold; other publications find no increase in risk.

Note that normally, APC gene mutations associated with FAP are dominant (and highly penetrant). Given that, the most conservative conclusion would be to say that if it's pathogenic at all, the E1317Q mutation is likely to lead to significantly increased risk primarily in rs1801166(C;C) homozygotes, but it might also be worth suggesting increased screening for heterozygotes anyway, and most especially for any E1317Q carriers with a family history of colon cancer.

OMIM611731
Desc
Variant0036
Relatedalso
ClinVar
Risk rs1801166(C;C)
Alt rs1801166(C;C)
Reference rs1801166(G;G)
Significance Other
Disease Familial adenomatous polyposis 1 not provided not specified
Variation info
Gene APC
CLNDBN Familial adenomatous polyposis 1 not provided not specified
Reversed 0
HGVS NC_000005.9:g.112175240G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000872.7, RCV000034389.3, RCV000035073.6,


[PMID 9724771OA-icon.png] The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.


[PMID 11001924OA-icon.png] Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.

GET Evidence
APC-E1317Q
aa_change Glu1317Gln
aa_change_short E1317Q
impact pathogenic
qualified_impact Moderate clinical importance, Uncertain pathogenic
overall_frequency 0.00883228
summary This rare variant has been hypothesized to increase risk of colon cancer. Later studies have contradicted this, finding no significant enrichment and concluding the variant does not increase risk.


[PMID 17119068OA-icon.png] APC E1317Q is not associated with Colorectal Cancer in a population-based case-control study in Northern Israel.

[PMID 23846443] Detailed molecular genetics of the APC*E1317Q mutation in tumor tissue suggest it may not be pathologically significant

[PMID 26863316OA-icon.png] Detection of a Tumor Suppressor Gene Variant Predisposing to Colorectal Cancer in an 18th Century Hungarian Mummy.