Skip to main content

Advertisement

Table 2 Variants with normal transcripts

From: Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations

Gene HGVS Prediction/indiation Splice classs Previous splicing assay
BRCA1 c.80 + 16A > T Possibly new cryptic donor site NA  
BRCA1 c.81-13C > G Reduced acceptor site 1S Houdayer 2012
BRCA1 c.81-14C > G Reduced acceptor site NA  
BRCA1 c.302-15C > G In consensus splice site 1S Steffensen 2014
BRCA1 c.441G > C p.(Leu147Phe) In consensus splice site 1S  
BRCA1 c.594-20A > G In consensus splice site 1S  
BRCA1 c.4676-8C > G Reduced acceptor site 1S  
BRCA1 c.4987-4 T > G In consensus splice site 1S  
BRCA1 c.5333-17C > A In consensus splice site NA  
BRCA2 c.521G > A p.(Arg174His) Diverging splicing results in publications 1S Houdayer 2012, Di Giacomo 2013
BRCA2 c.682-12_682-11delTA In consensus splice site 1S Spearman 2008
BRCA2 c.7006C > T p.(Arg2336Cys) In consensus splice site 1S  
BRCA2 c.7436-4A > G In consensus splice site 1S  
BRCA2 c.9234C > T p.(Val3078=) Partial exon 24 skipping published 1S Sanz 2010
BRCA2 c.9257G > C p.(Gly3086Ala) In consensus splice site 1S  
BRCA2 c.9502-12 T > G In consensus splice site NA Houdayer 2012, Joosse 2012, Acedo 2015
  1. Splice class as defined by Houdayer 2012; Class 1S: no effect on splicing with identification of the two alleles using informative single nucleotide polymorphisms (SNPs), NA = not analyzed