owencqueen/cgbench_data huggingface dataset:
Gene: GUCY2D (HGNC:4689)
Evidence Code: BP6 — Original ACMG Summary
Reputable source recently reports variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation.
Gene: GUCY2D (HGNC:4689)
Evidence Code: BP7 — Original ACMG Summary
A synonymous variant for which splicing prediction algorithms predict no impact to the splice consensus sequence nor the creation of a new splice site AND the nucleotide is not highly conserved.
Gene: GUCY2D (HGNC:4689)
Evidence Code: BP7 — Strong
Modification Type: Disease-specific
BP7_Strong (RNA) Used to designate capture of splicing data (not BS3). See GUCY2D-specific PVS1 Decision Tree, file attached, for weighting and combining with other codes.
Gene: GUCY2D (HGNC:4689)
Evidence Code: BP7 — Supporting
Modification Type: Gene-specific
Use not only for synonymous variants but also for intronic variants located outside of the donor/acceptor +/- 1,2 dinucleotide positions. 


If SpliceAI score ≤0.1, apply BP4 followed by assessment of BP7. See GUCY2D-specific PVS1 Decision Tree 
part (a)
 for SpliceAI flowchart.




Positions 
excluded
 from BP7:


Synonymous substitutions at the first base of an exon


Synonymous substitutions in the last 3 bases of an exon


+1 through +7 of donor sequence


-1 through -21 of acceptor sequence