Scout: ClinVar - Functional consequences

[4WGH]

in the window to submit variant we wonder about the list "functional consequences"
there is a dropdown menu. Does the list come fron ClinVAr?
we have a splice variant and can not find any appropiate choice in the list.

[northwestwitch]

Hi, that field is not for describing molecular consequences (e.g. affecting splicing)

Terms of that field might come from:

• Sequence ontology (http://www.sequenceontology.org/browser/obob.cgi), e.g. SO:1000071
• VariO (http://www.variationontology.org/cgi-bin/amivario/browse.cgi), VariO:0397
• LOVD (https://www.lovd.nl/).

Separate multiple terms by a semicolon.

Here's the explanation from the official clinVar Excel sheet:

[northwestwitch]

Does it answer your question @4WGH ?

[4WGH]

OK, thanks