rs16942
mixedMag 5.0This is a synonymous variant in the BRCA1 gene — it does not change the protein's amino acid sequence.
Key Literature Trait Associations
Breast Cancer Risk
Common synonymous variant in BRCA1 frequently observed in linkage disequilibrium with other BRCA1 variants. Minor association with breast cancer risk, likely as a tagging variant.
Aspartate aminotransferase measurement
A large-scale multi-ancestry GWAS of 354,541 UK Biobank participants identified the C allele of rs16942 as significantly associated with higher serum aspartate aminotransferase (AST) levels (beta=0.0181 log-units per allele, SE=0.0025, p=1×10⁻¹²). This genome-wide significant association is notable given BRCA1's canonical role in DNA repair rather than liver metabolism, and the effect size is modest. The finding was replicated across European, African, and South Asian ancestry groups within the same biobank cohort.
Radiation-induced lung injury
A small candidate-gene study (n=39 Caucasian patients) found that the A allele of rs16942 (BRCA1 G3748A) was associated with increased lung radiation sensitivity as measured by objective radiologic dose-response slope (p=0.03). Given BRCA1's central role in DNA double-strand break repair, this plausible biological connection warrants replication in larger cohorts before clinical application. The study is hypothesis-generating only.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
Hereditary breast ovarian cancer syndrome; Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, susceptibility to, 1
View on ClinVar →▶Research that mentions this SNP (5)
▶The role of ABCB1 polymorphism as a prognostic marker for primary central nervous system lymphomaAssociationN=91Ting Wu et al.(2019)· Annals of Hematology
A prospective study of 91 primary central nervous system lymphoma (PCNSL) patients examined genetic polymorphisms in DNA repair, one-carbon metabolism, and metabolism genes as prognostic markers. ABCB1 rs1045642 was identified as an independent prognostic factor, with the CC genotype significantly associated with shorter progression-free survival (PFS: 16 months CC vs. 27 months TT/CT, HR=1.9, P=0.036) and higher risk of disease progression compared to T allele carriers.
▶Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinomaMethodsChang Myeon Song et al.(2015)· Environmental and Molecular Mutagenesis
This is a methods chapter describing high-resolution melting (HRM) for SNP detection in papillary thyroid carcinoma research. The paper reviews SNPs associated with PTC development and progression, including variants in FAS (rs2234978), DICER1 (rs3742330), TAS2R3/4 (rs2270009, rs2234001), ATM (rs373759, rs664143, rs4585), TITF1/TITF2 (rs944289, rs965513, rs1443434), MDM2 (rs2279744, rs3730485), BRCA1 (rs1799950, rs799917, rs16941, rs16942, rs1060915, rs1799966), VEGF-A, MMP9 (rs1562), and others associated with tumor characteristics and PTC risk.
▶Polymorphisms in DNA repair pathway genes, body mass index, and risk of non‐Hodgkin lymphomaAssociationN=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).
▶Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study populationAssociationN=2,079Tonia C. Carter et al.(2011)· American Journal of Medical Genetics Part A
This case-control and family-based study evaluated 64 SNPs in 34 genes for associations with spina bifida in 558 Irish case-families and 994 controls. Spina bifida was significantly associated with LEPR rs1805134 (GRR: 1.5, P = 0.0264) and COMT rs737865 (GRR: 1.4, P = 0.0206), with additional confirmations of previous findings in MTHFR 677C>T and other genes, suggesting roles for leptin signaling and methylation pathways in neural tube defect pathogenesis.
▶Polymorphisms in BRCA1, BRCA1-interacting genes and susceptibility of breast cancer in Chinese womenAssociationN=1,192Xiang Huo et al.(2009)· Journal of Cancer Research and Clinical Oncology
Case-control study of 568 Chinese breast cancer cases and 624 controls investigating polymorphisms in BRCA1, BRIP1, and ZNF350. Individual SNP associations were modest and non-significant, but joint analysis revealed significant gene-gene interaction: ZNF350 rs4986773 variant homozygotes combined with BRCA1 rs799917 variant homozygotes conferred increased breast cancer risk (OR = 2.03, 95%CI = 1.02-4.05, p-int = 0.059), suggesting BRCA1 and ZNF350 jointly contribute to breast cancer susceptibility.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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