[ensembl-dev] Stop-retained frameshift

Will McLaren wm2 at ebi.ac.uk
Mon Jul 13 16:42:52 BST 2015

Thanks, we've seen a similar case before I believe.

We'll take a look at updating the code for our next release (changing
consequence predicate code is a bit more involved than the usual bug fix).


On 13 July 2015 at 15:49, Konrad Karczewski <konradk at broadinstitute.org>

> Hi Will/VEP,
> Me again. We found a fairly exotic corner case variant (
> http://exac.broadinstitute.org/variant/1-204159611-CT-C): it's annotated
> in VEP as a "frameshift" (confirmed it does the same in v80) that deletes
> the last base of a transcript, but actually results in a stop-retained
> variant, so I suppose in a sense be a synonymous-like variant?
> Thanks!
> -Konrad
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