{{Rsnum
|rsid=1801166
|Gene=APC
|Chromosome=5
|position=112839543
|Orientation=plus
|GMAF=0.003673
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=APC
}}{{omim
|id=611731
|rsnum=1801166
|variant=0036
}}{{ClinVar
|rsid=1801166
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=112175240
|CHROM=5
|GMAF=0.0037
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050168000000040516110100
|GENEINFO=APC:324
|GENE_NAME=APC
|GENE_ID=324
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.112175240G>C
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1345; 611731.0036
|CLNSIG=5
|CLNCUI=CN074282; CN074282
|CLNDBN=Adenomatous polyposis coli; not provided; AllHighlyPenetrant
|Disease=Adenomatous polyposis coli; not provided; AllHighlyPenetrant
|CLNACC=RCV000000872.1; RCV000034389.1; RCV000035073.1
|Tags=PM;PMC;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9963; 0.003673
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1345:CN074282:175100:220460:733:70921007; CN169374
|COMMON=1
}}{{PMID Auto
|PMID=9724771
|Title=The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
|OA=1
}}

{{PMID Auto
|PMID=11001924
|Title=Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.
}}{{GET Evidence
|gene=APC
|aa_change=Glu1317Gln
|aa_change_short=E1317Q
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Uncertain pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs1801166
|overall_frequency_n=95
|overall_frequency_d=10756
|overall_frequency=0.00883228
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=3
|n_articles_annotated=2
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-2
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=1
|clinical_importance=0
|summary_short=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.
}}