Q. Why is Cryptic Native Intron Frequency (NIF) displayed for Donor variants but not for Acceptor variants?

A. The successful recognition of an acceptor motif relies on key auxiliary factors, namely branch-point and poly pyrimidine tract. The acceptor motif's Native Intron Frequency (NIF) alone does not capture these two auxiliary factors. This is currently an area of research and it is not possible to accurately reflect the acceptor splice-site strength based on the acceptor motif's NIF alone. As a result, we have removed the Cryptic NIF column for acceptor variants for now. This will be reintroduced once we have a metric that accurately captures the acceptor strength along with its auxiliary factors.

Splice - Altering

Clinical and genetic evidence indicate this variant has a given probability of altering pre-mRNA splicing for this gene.

Splice-Neutral

Clinical and genetic evidence indicate this variant has a given probability of maintaining the existing pattern of pre-mRNA splicing for this gene

Uncertain

Clinical and genetic evidence for pre-mRNA splicing disruption by this variant is weak and/or conflicting; and cannot be assigned a probability.