owencqueen/cgbench_data huggingface dataset:
Gene: RUNX1 (HGNC:10471)
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: RUNX1 (HGNC:10471)
Evidence Code: BP7 — Supporting
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.


Per original ACMG/AMP guidelines. BP7 can not be applied in combination with PP3.


Comments:


Also applicable to intronic/non-coding variants at or beyond positions +7/-21 for which (1) SSF and MES predict either an increase in the canonical splice site score or a decrease of the canonical splice site score by no more than 10% and no putative cryptic splice sites are created AND (2) evolutionary conservation prediction algorithms predict the site as not conserved (e.g. PhyloP score < 0.1 or the variant is the reference nucleotide in one primate and/or three mammal species.).