Don’t judge a variant by its position: +2T>C and the splicing surprise

Presenting Author: Heather Zimmermann, PhD

Take home point: 

• During variant classification, +2T>C variants must be interpreted cautiously, particularly when SpliceAI scores are low.The prior probability of pathogenicity for these variants is not as high as for other canonical splice site variants , with ~20% of +2T>C variants able to support a substantial amount of normal splicing.