Table 2 Variants with normal transcripts
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 |