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Table 2 Summary of KIT exonic variants from NGS results after cross-referencing from COSMIC. Of note, one patient had 2 KIT variants, and another had 3 KIT variants

From: Molecular exploration of paediatric intracranial germinomas from multi-ethnic Singapore

KIT AA mutation CDS mutation FATHMM score COSM identifier Reported in human cancers (Yes or No) Number of patients with variant
Exon 2 p.T84M c.251C > T 0.01 (neutral) COSM3380948 Yes; mixed germ cell tumour, pancreatic cancer 1
Exon 10 p.M541L c.1621A > C 0.74 COSM28026 Yes; primary CNS lymphoma, breast cancer 5
Exon 11 p.Y553C c.1658A > G 0.96 COSM4413463 Yes; mixed germ cell tumour 1
Exon 13 p.N655K c.1965 T > A 0.82 COSM4413464 Yes; germ cell tumour, AML 1
Exon 17 p.D816V c.2447A > T 0.99 COSM1314 Yes; germ cell tumour, malignant melanoma 1