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 |