The BRCA2 variant 8204G>A is a splicing mutation and results in an in frame deletion of the gene.

Since the identification of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2, a large number of different germline mutations in both genes have been found. 2 The BRCA1/2 germline mutations reported to date comprise a broad spectrum of sequence variants, mainly frameshift and nonsense mutations that result in truncated proteins. A minor proportion of the documented sequence variants are the result of mutations in sites relevant for correct splicing of the pre-mRNA.