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Fig. 4 | BMC Medical Genomics

Fig. 4

From: A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer

Fig. 4

Predicted Isoforms and Relative Abundances as a Consequence of CHEK2 splice variant c.320-5 T > A. Intronic CHEK2 variant c.320-5 T > A weakens (6.8 to 4.1 bits) the natural acceptor of exon 3 (total of 15 exons). a ASSEDA reports the weakening of the natural exon strength (R i,total reduced from 13.2 to 10.5 bits), which would result in reduced splicing of the exon otherwise known as leaky splicing. A pre-existing cryptic acceptor exists 92 nt upstream of the natural site, leading to a cryptic exon with similar strength to the mutated exon (R i,total  = 10.0 bits). This cryptic exon would contain 92 nt of the intron. b Before the mutation, isoform 1 is expected to be the only isoform expressed. c After the mutation, isoform 1 (wild-type) is predicted to become relatively less abundant and isoform 2 is expected to be expressed, although less abundant in relation to isoform 1

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