Table 2.

Subtypes of VHL gene mutations observed among 205 histologically confirmed ccRCCs

No. cases (n = 205)
No. mutations (n = 176)
VHL statusn%Typen%Locationn%RSI bin*n%Databasen%
Mutated16982Deletion5933.5Exon 16235Low8045Yes12470
1 Mutation16279Insertion4223.9Intron 142Medium9252No5230
2 Mutations73Missense4223.9Exon 25028High42
No mutation3618Nonsense1810.2Intron 2116
P25L84Splicing159Exon 34928
  • * RSI of mutant allele compared with wild-type.

  • P25L and silent mutations are shown for reference and were not classified as functional mutations in future calculations.

  • Splicing mutations include intronic nucleotide changes within three bases of the intron-exon boundary.