Table 12.
ERBB2 mutation type | Mutation | Alternate nomenclature (based on HGVS guidelines) |
Frequency | Percentage |
---|---|---|---|---|
Exon 20 insertion | p.A775_G776insYVMA (c.2324_2325ins12) |
p.Y772_A775dup (c.2313_2324dup) |
5 | 55.6 |
Exon 20 insertion | p.P780_Y781insGSP (c.2339_2340insGGCTCCCCA) |
p.G778_P780dup (c.2331_2339dup) |
1 | 11.1 |
Exon 20 insertion | p.G776 > VC (c.2326_2327insTGT) |
p.G776delinsVC (c.2326_2327insTGT) |
1 | 11.1 |
Exon 8 missense mutation | p.Q527* (c.1579C > T) |
p.Gln527Ter (c.1579C > T) |
1 | 11.1 |
Exon 13 nonsense mutation | p.S310Tyr (c.929C > A) |
p.Ser310Tyr (c.929C > A) |
1 | 11.1 |
HGVS Human Genome Variation Society