[ensembl-dev] VEP 111 is not giving standardised HGVS

[Syed Hossain]

Hello Wallace Ko,

Thanks for your query!

You are correct, this should be expressed as duplication instead of 
insertion. This is a known issue of VEP and we will have a fix for it in 
the next Ensembl release (112).

Best regards,
Nakib

On 2024-02-27 03:52, Wallace Ko wrote:
> Hello Ensembl Team,
> 
> For the variant 17-50199255-C-CG, VEP 104 is giving
> ENST00000225964.10:c.441dup which is expected. On the other hand, VEP
> 111 gives ENST00000225964.10:c.441_442insC.
> 
> Per HGVS Nomenclature Recommendations [1]: when a variant can be
> described as a duplication or an insertion, prioritisation determines
> it should be described as a duplication. Therefore the HGVSc from VEP
> 104 should be the preferred representation.
> 
> Regards,
> Wallace Ko
> 
> Links:
> ------
> [1] https://hgvs-nomenclature.org/stable/recommendations/general/
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