rs1614984

This variant is located in the TP53 gene.

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ClinVar annotation

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

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Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation inTP53and neural tube defect risk in an Irish population
AssociationN=2,561Faith Pangilinan et al.(2008)· American Journal of Medical Genetics Part A

This case-control and family-based association study evaluated 21 TP53 variants and 1 MDM2 variant (rs2279744) in 549 Irish NTD cases, 532 mothers, 481 fathers, and 999 controls. Three TP53 noncoding variants showed associations with neural tube defect risk: rs1625895 (intron 6, GG genotype, OR=1.37, p=0.02), the intron 1 VNTR (135/135 genotype, maternal effect, OR=1.86, p=0.01), and rs1614984 (maternal TT genotype, RR=0.58, p=0.02). However, these associations did not remain significant after multiple testing correction. The functional R72P variant (rs1042522) showed no association with NTD risk.

Traits studied:NTDNeural tube defects
PubMedDOIMetascience Observatory
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Common genetic variation in TP53 and its flanking genes, WDR79 and ATP1B2, and susceptibility to breast cancer
AssociationN=8,046Montserrat Garcia‐Closas et al.(2007)· International Journal of Cancer

Case-control study of 731 Norwegian and 1,995 Polish breast cancer cases with 1,124 and 2,296 controls respectively, investigating common genetic variation in TP53 and flanking genes WDR79 and ATP1B2. No significant overall TP53 SNP associations with breast cancer risk were found, but WDR79 rs2287499 (R68G) showed increased risk (OR=1.60 for GG vs CC, p-trend=0.01). Notably, rs2287499 and rs17887200 (TP53) were associated specifically with ER-negative breast cancers (OR=1.42 and 1.48 respectively, p-trend<0.01), but not ER-positive tumors.

Traits studied:Breast cancerER-negative breast cancerER-positive breast cancer
PubMedDOIMetascience Observatory

About TP53

This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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