rs1805377

This is a splice region variant variant in the XRCC4 gene.

▶

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

DNA repair protein XRCC4 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.09
p 2.0e-20
N 47,745
Large GWAS
European
▶

ClinVar annotation

Benign★★★☆
3 submitters1 publication

not provided; Familial cancer of breast; Nonpapillary renal cell carcinoma; Ovarian cancer; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Uveal melanoma; Colorectal cancer; Uterine carcinosarcoma

View on ClinVar →
▶

Research that mentions this SNP (2)

▶
Polymorphisms in DNA repair pathway genes, body mass index, and risk of non‐Hodgkin lymphoma
AssociationN=868Yingtai Chen et al.(2013)· American Journal of Hematology

Population-based case-control study of 601 Connecticut women with non-Hodgkin lymphoma (NHL) and frequency-matched controls examining interactions between DNA repair gene polymorphisms and body mass index. Suggestive gene-BMI interactions were observed for BRCA1 rs799917 (OR=1.7), XRCC1 rs1799782 (OR=1.5), ERCC2 rs13181 (OR=2.0), and other DNA repair genes in modifying NHL risk. After multiple testing correction, significant interactions remained for WRN rs1801195 with T-cell lymphoma (P=0.004) and ERCC2 rs13181 with diffuse large B-cell lymphoma (P=0.002).

Traits studied:B-cell lymphomaDiffuse large B-cell lymphomaFollicular lymphomaMarginal zone B-cell lymphomaNon-Hodgkin lymphomaSmall lymphocytic lymphoma/chronic lymphocytic leukemiaT-cell lymphoma
PubMedDOIMetascience Observatory
▶
Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end‐joining pathway genes
AssociationN=768Ruo‐Chia Tseng et al.(2009)· Cancer

A case-control study of 384 glioma patients and 384 controls investigated 10 SNPs in 7 DNA double-strand break repair genes. LIG4 rs1805388 (T9I, OR=3.27 for TT and 1.62 for TC) and XRCC4 rs1805377 (splice-site, OR=1.77 for GG) were significantly associated with increased glioma risk. The two variants showed significant gene-gene interaction effects (multiplicative OR=2.22, p=0.005).

Traits studied:Glioma
PubMedDOIMetascience Observatory

About XRCC4

The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]

View all XRCC4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…