Table 3.
Other very rare DPYD variants supported by a moderate level of evidence
| SNP | cDNA variant |
Protein variant | Impact on DPD activity |
MAF European no Finnish (gnomAD) |
|---|---|---|---|---|
| Frameshift mutation | ||||
| rs72549303 (*3) | c.1898del | p.Pro633fs | Total loss of function | NR |
| rs72549309 (*7) | c.295_298TCAT | p.Phe100SerfsTer15 | Total loss of function | 0,0002016 |
| Missense mutation | ||||
| rs1801266 (*8) | c.703C>T | p.Arg235Trp | Total loss of function | 0,0000852 |
| rs1801268 (*10) | c.2983G>T | p.Val995Phe | Total loss of function | NR |
| rs78060119 (*12) | c.1156G>T | p.Glu386Ter | Total loss of function | 0,0000088 |
| rs115232898 | c.557A>G | p.Tyr186Cys | Decreased function | 0,0000466 |
MAF minor allele frequency, NR not reported, SNP single-nucleotide polymorphism
*Identification of the allele