Patient ID | Gene | Genomic position (GRCh37/hg19) | Nucleotide change | Amino acid change | dbSNPa | MAFb | Prediction according to | CADD scoreg | Previously described in germline of patients with | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|
MutationTasterc | SIFTd | Poly Phen-2e | PROVEANf | |||||||||
Heterozygous POLE and POLD1 germline variants identified in glioma patients from 10 tumor families | ||||||||||||
Fam011-III.1/M1 | POLE | 12:133257789 | c.139C>T | p.(R47W) | rs143626223 | 0.001243 | DC | D | PrD | Del | 27.1 | |
Fam011-II.2 | ||||||||||||
WI70-III.1 | POLE | 12:133253974 | c.776G>A | p.(R259H) | rs61732929 | 0.009734 | DC | T | B | N | 23.3 | |
WI127-III.2 | ||||||||||||
WI161-II.1 | POLE | 12:133253971 | c.779G>A | p.(R260Q) | rs5744752 | 0.0001242 | DC | D | B | Del | 23.8 | |
WI207-III.1 | POLE | 12:133249853 | c.1370C>T | p.(T457M) | rs878854842 | - | DC | D | PoD | Del | 26.1 | |
WI140-III.1 | POLE | 12:133235911 | c.3245G>A | p.(R1082H) | rs201744227 | 0.0002486 | DC | T | B | Del | 25.5 | |
WI69-III.1 | POLE | 12:133220454 | c.4259C>T | p.(A1420V) | rs41561818 | 0.004536 | DC | T | B | N | 21.2 | |
WI104-III.1 | POLE | 12:133202740 | c.6494G>A | p.(R2165H) | rs5745068 | 0.003258 | DC | T | PrD | Del | 25.9 | BC [9, 24, 26], CC [24], CRC [9, 27], EC [28], Mel [24], OC [9] |
WI27-III.1 | POLD1 | 19:50905151 | c.433G>A | p.(A145T) | rs137953986 | 0.002778 | DC | T | B | N | 20.4 | |
WI40-II.1 | POLD1 | 19:50905173 | c.455C>T | p.(A152V) | rs41563714 | 0.001057 | DC | T | B | N | 20.5 | |
Heterozygous POLE variant identified in the glioblastoma of a patient who developed a spinal metastasis | ||||||||||||
M2h | POLE | 12:133201381 | c.6763A>T | p.(I2255F) | rs73155056 | 0.005655 | DC | T | B | N | 22.3 | |
Homozygous POLD1 germline variant identified in an oligodendroglioma patient without family history of cancer | ||||||||||||
WII-40-II.1 | POLD1 | 19:50918229 | c.2546G>A | p.(R849H) | rs3218775 | 0.008146 | DC | T | B | N | 22.1 | CRC [30] |