search

WGLab / InterVar

A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
188 stars 93 forks source link

Annotation for splicing site. #66

Open lincj1994 opened 3 years ago

lincj1994 commented 3 years ago

Hi, I am confused of the pathogenicity annotation of splice_site mutation. In two articles recently published in NEJM, one classified splice variants affecting penultimate and the last exon as VUS or B/LB, and the other only keep splice sites (+/- 1 or 2). I dont know if InterVar also annotates the splice variants in a similar way.

kaichop commented 3 years ago

ANNOVAR annotates canonical splice site which is within 2bp from exon/intron boundary.

On Sun, Jul 11, 2021 at 10:38 PM Caijin Lin @.***> wrote:

Hi, I am confused of the pathogenicity annotation of splice_site mutation. In two articles recently published in NEJM, one classified splice variants affecting penultimate and the last exon as VUS or B/LB, and the other only keep splice sites (+/- 1 or 2). I dont know if InterVar also annotates the splice variants in a similar way.

— You are receiving this because you are subscribed to this thread. Reply to this email directly, view it on GitHub https://github.com/WGLab/InterVar/issues/66, or unsubscribe https://github.com/notifications/unsubscribe-auth/ABNG3OAHJICRZQMLPH6I52TTXJITVANCNFSM5AF5W74Q .