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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/)

From: Gene variants of the SLC2A5 gene encoding GLUT5, the major fructose transporter, do not contribute to clinical presentation of acquired fructose malabsorption

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
(www.varsome.com)
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