rs1323697

This is a regulatory region variant variant in the ERCC5 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Genetic variants of genes in the NER pathway associated with risk of breast cancer: A large‐scale analysis of 14 published GWAS datasets in the DRIVE study
Meta-analysisN=53,107Jie Ge et al.(2019)· International Journal of Cancer

A large-scale meta-analysis of 14 GWAS datasets from the DRIVE Study (53,107 European-descent subjects) identified four novel genetic variants in nucleotide excision repair (NER) pathway genes associated with breast cancer risk: BIVM-ERCC5 rs1323697 (OR=1.06, 95% CI=1.03-1.10), GTF2H4 rs1264308 (OR=0.93, 95% CI=0.89-0.97), COPS2 rs141308737 (OR=1.06, 95% CI=1.03-1.09), and ELL rs1469412 (OR=0.93, 95% CI=0.90-0.96). eQTL analysis revealed that BIVM-ERCC5 rs1323697 C and ELL rs1469412 C alleles were associated with increased mRNA expression of their respective genes, suggesting functional roles in breast cancer etiology.

Traits studied:Breast cancer
PubMedDOIMetascience Observatory

About ERCC5

This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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