Table 3 Implemented variant classification criteria of detected germ-line mutations
From: The emerging clinical relevance of genomic profiling in neuroendocrine tumours
Patient | Gene | Variant (amino acid change) | ACMG criteria (doi: 10.1038/gim.2015.30) |
|---|---|---|---|
P11 | KIT | M541L (Heterozygote) | PM2, BP4, BP6 |
SDHD | G12S (Heterozygote) | PP2, BS1, BS3, BP4, BP6 | |
P14 | SDHB | G19FS*57 (Heterozygote) | PVS1, PM1, PM2 |
P15 | PDGFRA | S66R (Heterozygote) | PM2, BP1, BP4 |
P17 | RET | G691S (Heterozygote) | PP2, BA1, BS3, BP4 |
P18 | RET | G691S (Heterozygote) | PP2, BA1, BS3, BP4 |
P19 | RET | G691S (Heterozygote) | PP2, BA1, BS3, BP4 |
P22 | RET | G691S (Heterozygote) | PP2, BA1, BS3, BP4 |
KIT | A431E (Heterozygote) | PM1, PM2, BP4 | |
P24 | RET | G691S (Homozygote) | PP2, BA1, BS3, BP4 |
RET | A1051V (Heterozygote) | PM1, PP2, PP3 | |
P25 | RET | G691S (Heterozygote) | PP2, BA1, BS3, BP4 |
P29 | KIT | R946* (Heterozygote) | PVS1, PP3, BS2 |
P30 | RET | A96V (Heterozygote) | PM2, PP2, BP4 |
P34 | KIT | M541L (Heterozygote) | PM2, BP4, BP6 |
P35 | SDHC | R72H (Heterozygote) | PM1, PM2, PP3 |