Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

False flag frameshift variant prediction ? #542

Open
pelotbdr opened this issue Jun 7, 2024 · 0 comments
Open

False flag frameshift variant prediction ? #542

pelotbdr opened this issue Jun 7, 2024 · 0 comments

Comments

@pelotbdr
Copy link

pelotbdr commented Jun 7, 2024

Hello, I'm trying to understand the output I got for a site with multiple alleles (REF: ACCG ALT: GCCA,GCCG)

It was classified as a frameshift variant despite the variants having the same number of nucleotides as the reference. Here is an excerpt of the INFO column for this variant:

frameshift_variant&missense_variant | HIGH | MITF | MITF | transcript | XM_034440584.1 |protein_coding | 11/11 |c.1518_1521delCGGTinsTGGC"

Is this a misclassification/bug ?

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

1 participant