Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Table 2 Selected five SPINK1 coding SNVs for further validation*

Exon	Variant^a		Illumina precomputed SpliceAI scores^b
	Nucleotide change	Amino acid change	AG	AL	DG	DL
1	c.29G > T	p.Ser10Ile	0.00	0.00	0.24 (23 bp)	0.10 (−26 bp)
1	c.37G > T	p.Ala13Ser	0.00	0.00	0.23 (31 bp)	0.08
2	c.64G > T	p.Gly22*	0.00	0.22 (8 bp)	0.00	0.11 (−23 bp)
2	c.81A > T	p.( =)	0.00	0.22 (25 bp)	0.00	0.13 (−6 bp)
3	c.92A > G	p.Lys31Arg	0.13 (−1 bp)	0.00	0.00	0.00

AG, acceptor gain; AL, acceptor loss; DG, donor gain; DL, donor loss; FLGSA, full-length gene splicing assay; SNVs, single-nucleotide variants
^*All five variants exclusively produced normally spliced transcripts through FLGSA (see Fig. 10)
^aSPINK1 mRNA reference sequence: NM_001379610.1
^bInformation in parentheses indicates pre-mRNA positions associated with variants exhibiting a Δ score ≥ 0.10. Positive and negative positions reflect locations 5’ (upstream) and 3’ (downstream) relative to the variant, in accordance with the gene's sense strand orientation

ISSN: 1479-7364