{{Rsnum
|rsid=459552
|Gene=APC
|Chromosome=5
|position=112841059
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=A
|GMAF=0.1382
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=APC
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 3.5 | 33.6 | 62.8
| HCB | 0.7 | 16.8 | 82.5
| JPT | 1.8 | 15.0 | 83.2
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 7.0 | 93.0
| CHB | 0.7 | 16.8 | 82.5
| CHD | 3.7 | 21.1 | 75.2
| GIH | 3.0 | 32.3 | 64.6
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 26.3 | 73.7
| MKK | 0.6 | 10.3 | 89.1
| TSI | 7.8 | 34.3 | 57.8
| HapMapRevision=28
}}{{Venter SNP
|rsid=459552
|allele=A
|frequency=0.775
|uid=1103654192649
|type=homozygous_SNP
|hugo=APC
|ensembl gene=ENSG00000134982
|ensembl transcript=ENST00000257430
|sift=
|disease=Defects in APC are a cause of Turcot syndrome (MIM:276300). Turcot syndrome is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots.
}}

{{PMID Auto
|PMID=20149637
|Title=Common variants in human CRC genes as low-risk alleles
}}

{{omim
|id=114500
|rsnum=459552
}}

{{ClinVar
|rsid=459552
|Reversed=1
|FwdREF=A
|FwdALT=T
|REF=T
|ALT=A
|RSPOS=112176756
|CHROM=5
|GMAF=0.1378
|dbSNPBuildID=80
|SSR=0
|SAO=1
|VP=0x05016800000015051f110101
|GENEINFO=APC:324
|GENE_NAME=APC
|GENE_ID=324
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000005.9:g.112176756T>A
|CLNORIGIN=0
|CLNSIG=255
|CLNCUI=114500
|CLNDBN=Adenomatous polyposis coli; not provided; AllHighlyPenetrant; Familial colorectal cancer
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.1382; 0.8618
|CLNACC=RCV000020089.1; RCV000034393.1; RCV000035078.2; RCV000074239.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; MedGen; GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1345:CN074282:175100:220460:733:70921007; CN169374; NBK1211:CN029768:114500
|CLNSRC=Emory University; GeneReviews
|CLNSRCID=2630; NBK1345
|COMMON=1
|Disease=Adenomatous polyposis coli; not provided; AllHighlyPenetrant; Familial colorectal cancer
}}

{{PMID Auto
|PMID=14724163
|Title=Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases.
|OA=1
}}

{{PMID Auto
|PMID=16569251
|Title=Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.
|OA=1
}}

{{PMID Auto
|PMID=17221838
|Title=Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).
}}

{{PMID Auto
|PMID=18375958
|Title=Modification of the associations between lifestyle, dietary factors and colorectal cancer risk by APC variants.
}}

{{PMID Auto
|PMID=18708403
|Title=Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=18992263
|Title=Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.
|OA=1
}}

{{PMID Auto
|PMID=20333795
|Title=APC gene mutations in Chinese familial adenomatous polyposis patients.
|OA=1
}}

{{PMID Auto
|PMID=11221825
|Title=A molecular variant of the APC gene at codon 1822: its association with diet, lifestyle, and risk of colon cancer.
}}

{{PMID Auto
|PMID=17556698
|Title=The D1822V APC polymorphism interacts with fat, calcium, and fiber intakes in modulating the risk of colorectal cancer in Portuguese persons.
}}

{{GET Evidence
|gene=APC
|aa_change=Val1822Asp
|aa_change_short=V1822D
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs459552
|overall_frequency_n=8881
|overall_frequency_d=10752
|overall_frequency=0.825986
|n_genomes=55
|n_genomes_annotated=0
|n_haplomes=100
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=8
|autoscore=3
|n_web_uneval=2
}}

{{PMID Auto
|PMID=24078348
|Title=An Analysis of Polymorphisms Within the Wnt Signaling Pathway in Relation to Ovarian Cancer Risk in a Polish Population
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}