{{Rsnum
|rsid=2228000
|Gene=XPC
|Chromosome=3
|position=14158387
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.2484
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=XPC
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 49.6 | 43.4 | 7.1
| HCB | 48.2 | 38.7 | 13.1
| JPT | 33.6 | 46.0 | 20.4
| YRI | 93.9 | 6.1 | 0.0
| ASW | 66.7 | 31.6 | 1.8
| CHB | 48.2 | 38.7 | 13.1
| CHD | 40.7 | 44.4 | 14.8
| GIH | 73.0 | 22.0 | 5.0
| LWK | 88.1 | 11.9 | 0.0
| MEX | 58.6 | 36.2 | 5.2
| MKK | 85.9 | 14.1 | 0.0
| TSI | 60.4 | 35.6 | 4.0
| HapMapRevision=28
}}[[rs2228000]], also known as Ala499Val and A499V, is a SNP  in the DNA nuclear excision repair gene xeroderma pigmentosum complementation group C [[XPC]] gene. The Val (V) allele is encoded by the [[rs2228000]](T) allele.

A meta-analysis of 11 studies with 5581 [[cancer]] cases and 6351 controls concluded that [[rs2228000]](T;T) homozygotes had an increased overall [[cancer]] risk (odds ratio of 1.24, CI: 1.08-1.42) compared with (C;C) homozygotes. This was primarily a risk for [[bladder cancer]].{{PMID|18771913}}

{{PMID Auto
|PMID=21622940
|Title=Single Nucleotide Polymorphisms in DNA Repair Genes and Association with Breast Cancer Risk in the WEB Study
|OA=1
}}

{{PMID Auto
|PMID=21739480
|Title=Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: A pathway-based analysis
}}

{{PMID Auto
|PMID=16465622
|Title=Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
|OA=1
}}

{{PMID Auto
|PMID=17498315
|Title=Sequence variations in DNA repair gene XPC is associated with lung cancer risk in a Chinese population: a case-control study.
|OA=1
}}

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|OA=1
}}

{{PMID Auto
|PMID=18544627
|Title=Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
|OA=1
}}

{{PMID Auto
|PMID=18547414
|Title=Genotyping panel for assessing response to cancer chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=18701435
|Title=Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18711149
|Title=Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.
|OA=1
}}

{{PMID Auto
|PMID=18854777
|Title=Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=19124499
|Title=Association and interactions between DNA repair gene polymorphisms and adult glioma.
|OA=1
}}

{{PMID Auto
|PMID=19270000
|Title=Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.
|OA=1
}}

{{PMID Auto
|PMID=19706757
|Title=Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.
|OA=1
}}

{{PMID Auto
|PMID=20141440
|Title=Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.
|OA=1
}}

{{PMID Auto
|PMID=21273643
|Title=In vitro functional effects of XPC gene rare variants from bladder cancer patients.
|OA=1
}}

{{GET Evidence
|gene=XPC
|aa_change=Ala499Val
|aa_change_short=A499V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2228000
|overall_frequency_n=1588
|overall_frequency_d=7820
|overall_frequency=0.203069
|n_genomes=17
|n_genomes_annotated=0
|n_haplomes=19
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23335232
|Title=Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx
}}

{{PMID Auto
|PMID=23400628
|Title=Associations of Lys939Gln and Ala499Val polymorphisms of the XPC gene with cancer susceptibility: a meta-analysis
}}

{{PMID Auto
|PMID=24264314
|Title=Association between CCND1 and XPC polymorphisms and bladder cancer risk: a meta-analysis based on 15 case-control studies
}}

{{PMID Auto
|PMID=22902050
|Title=Using haplotype analysis to elucidate significant associations between genes and Hodgkin lymphoma.
|OA=1
}}

{{PMID Auto
|PMID=23175176
|Title=Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
}}

{{PMID Auto
|PMID=23436679
|Title=Xeroderma pigmentosum genes and melanoma risk.
}}

{{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 | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}