Table 3 Allele frequencies of GLUT5 gene variants in 35 patients with acquired fructose intolerance (TGP: Thousand Genome Project; https://www.internationalgenome.org/data/; gnomAD: Genome Aggregation Database; https://gnomad.broadinstitute.org/)
Gene variant (rs. No.) | NM_001328619.2 NP_001315548.1 | Number of patients with gene variant (n = 35) | Allel frequency (%) own study/TGP-Europe/gnomAD-Europe) | Classification based on ACMG-guidelines |
|---|---|---|---|---|
rs958806131 | c.-269-247 C>T | 1 | 1.4/n.d./0.01 | VUS3 |
rs1705285 | c.-269-213 T>C | 22 | 34.3/39.0/36.1 | Benign |
rs12117043 | c.-269-202 C>T | 22 | 34.3/32.2/30.8 | Benign |
rs35276984 | c.-269-135 ins T | 31 | 47.1/59.0/59.4 | Benign |
rs5438 | c.-25 G>A | 1 | 1.4/5.8/5.6 | VUS3 |
rs3737661 | c.294-56 C>A | 7 | 10.0/5.1/n.d | Likely benign |
rs139477702 | c.832 C>T, p.Leu278= | 1 | 1.4/0.2/0.3 | Likely benign |
rs11121306 | c.1098+145 C>T | 19 | 28.6/27.4/26.3 | Benign |
rs370588099 | c.1175-38 G>A | 1 | 1.4/n.d./0.01 | VUS3 |
unknown | c.1302+21 A>C | 1 | 1.4/n.d./n.d | Unknown |