ANALYSIS OF SDHx EXPRESSION IN VAGAL PARAGANGLIOMAS
Table 1 - The list of SDHx variants in VPGs
Gene | Variant | Pathogenicity |
SDHA [5p15.33] | c.C781T, p.R261C (chromosome5:231001, rs143484394) | Uncertain significance |
c.C830T. p.T277M (chromosome5:231050, rs367721665) | Uncertain significance | |
SDHB [1p36.13] | c.136C>T, p.Arg46* (chromosome1:17371320, rs74315370) | Pathogenic |
c.541-2A>G (chromosome1:17350571, rs786201161) | Pathogenic | |
c.C79T, p.R27X (chromosome1:17371377, rs74315369) | Pathogenic | |
c.287-2A>G (chromosome1:17355233, rs1064794270) | Pathogenic | |
c.A307G, p.M103V (chromosome1:17355211, rs140178341) | Uncertain significance | |
SDHD [11q23.1]
| c.205G>T, p.Glu69* (chromosome11:111959626) | Pathogenic |
c.335_338del, p.T112fs (chromosome11:111965547, rs587776648) | Pathogenic | |
c.A305G, p.H102R (chromosome11:111959726, rs104894302)* | Likely pathogenic | |
c.C242T, p.P81L (chromosome11:111959663, rs80338844) | Uncertain significance | |
c.G232C, p.G78R (chromosome11:111959653, rs1592780479) | Uncertain significance | |
c.G337C, p.D113H (chromosome11:111965551) | Uncertain significance | |
c.170-2A>T (chromosome11: 111959589) | Likely pathogenic |
* - three patients carry this variant. SDHC is not shown in the table because we did not find any mutations in this gene