See Figure 2 for overview of prioritization process. cDNA numbering is based on NM_007294.3 transcript.
c.5080G>T was assayed in Findlay et al. (2018): non-functional, depleted in mRNA (RNA score = -2.5); predicted nonsense thus excluded from list.
§ c.5123C>A was assayed in Findlay et al. (2018): non-functional, not depleted in mRNA (RNA score = -0.55); aberrant transcript was observed as faint band in splicing assay of Sanz et. al (2010).
Table 3. MaxEntScan scores of native splice sites ofBRCA1 exons assessed by functional assays of Findlay et al. (2018)