Session # 5009W

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.

• Authors: Heather Zimmermann; Shoji Ichikawa
• Conference: ASHG 2025
• Date: Wednesday, Oct 15, 2025 2:30pm - 4:30pm