Table 1. Somatic alterations identified in the left frontal pleomorphic xanthoastrocytoma and right cerebellar diffuse astrocytoma.
Pleomorphic xanthoastrocytoma, left frontal lobe | ||
Variant | Reference transcript | Classification |
CDKN2A/B homozygous deletion | N/A | Pathogenic |
BRAF p.V600E | NM_004333 | Pathogenic |
CDH1 p.V55G | NM_004360 | VUS |
SPTA1 p.T1953I | NM_003126 | VUS |
Diffuse astrocytoma, right cerebellum | ||
Variant | Reference transcript | Classification |
CDKN2A/B homozygous deletion | N/A | Pathogenic |
ATRX p.G1152fs | NM_000489 | Pathogenic |
NF1 p.L1246fs | NM_001042492 | Pathogenic |
NF1 p.W1685fs | NM_001042492 | Pathogenic |
PTPN11 p.T73I | NM_002834 | Pathogenic |
fs = frameshift; N/A = not applicable; VUS = variant of unknown significance.