Annotation for splicing site.

[lincj1994]

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]

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

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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 <#66>, or unsubscribe <https://github.com/notifications/unsubscribe-auth/ABNG3OAHJICRZQMLPH6I52TTXJITVANCNFSM5AF5W74Q> .