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

Wallace Ko myko at l3-bioinfo.com
Tue Feb 27 03:52:40 GMT 2024


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
<https://hgvs-nomenclature.org/stable/recommendations/general/>: 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
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