Good afternoon community,
We're facing issues with the annotation of some variants in our pipeline analysis. We've got a couple of examples, but I'm sharing here the case of this variant: 17:48227204G>A (GRCh37), which is in the PPP1R9B gene.
The different softwares tend to disagree on how to annotate the HGVS... and even Varsome and Franklin do not agree..., even sharing the same RefSeq transcript ID and its version.
Franklin: PPP1R9B:c.671C>T // NM_032595.5
Varsome: PPP1R9B:c.669C>T // NM_032595.5
My suspects are related with the ENSEMBL and RefSeq annotations not positioning the gene in the same reference positions, and that one of the webpages has transformed the ENSEMBL annotation into the RefSeq one.
Could anyone please throw some light into this issue? Is there any webpage resource that solves any annotations issues that may exist? Thanks!!
