Variant Annotations
PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.
Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.
There are 2 annotations for this variant. Register or sign in to see them.
VIP Variant in CYP3A5
Note: The CYP3A5 gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand; therefore the alleles within our variant annotations will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.
CYP3A5*6 (14690G>A; rs10264272) is a nonfunctional allele, present predominantly in the African American population and occasionally found in other populations [Article:11279519]. CYP3A5*6 causes alternative splicing of CYP3A5 (a G-to-A transition in exon 7 results in exon 7 skipping), and protein truncation, resulting in the absence of CYP3A5 protein [Article:11279519]. CYP3A5*6 alleles are relatively frequent in Black subjects (7-17% [Articles:11740341, 11279519, 12893984]) but are very rare in White populations [Articles:11279519, 12893984] and in Asian populations [Articles:12756511, 12893984].
Variant-Drug/Disease Association
Japanese women who are CYP3A5 expressors were shown to have a higher risk for breast cancer than those who are non-expressors (OR 1.49(95% CI:1.10-2.04);study size: 403 case-control pairs.) [Article:19229255]. In one small study(48 African American and 50 Caucasian women), association between tamoxifen level/side effects during treatment for breast cancer and *1 vs.*3 vs.*6 was examined, and no association was found . The authors state that the study was sufficiently powered. However, there was a significant association(p < 0.02) noted between larger tumor size and having at least one copy of *6 [Article:15596297].
| Key Publications: |
|---|
Appendix
| Genomic Variant & GenBank ID: | 267871 G>A on NG_000004.2 |
|---|---|
| mRNA Variant & GenBank ID: | 711G>A , NM_000777(Genbank accession number for alternatively spliced form is AF355803) |
| Protein Variant & GenBank ID: | Lys208Lys on NP_000768 |
| DNA Source Containing Homozygous Reference Allele(Coriell Lines): | NA15029 (PA126721208), NA15038 (PA126721221) |
| DNA Source Containing Heterozygous Reference Allele(Coriell Lines): | NA15334 (PA130760116), NA15268 (PA130760116), NA15215 (PA126721210) |
Publications related to rs10264272 at chr7:99262835: 9
Cross-References
- UCSC Golden Path:
- chr7:99262835
- dbSNP:
- rs10264272
- HapMap:
- rs10264272
Platform Availability
- Illumina