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VariantGrid public repo
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Intergenic classifications - missing c.HGVS treated as error #1063

Open davmlaw opened 5 months ago

davmlaw commented 5 months ago

Create an intergenic classification, for instance:

NC_000009.12:g.99087902A>C

This is intergenic, so will have no transcript thus no c.HGVS

No c.HGVS is treated as an error, so this causes a bunch of problems:

davmlaw commented 5 months ago

The g.HGVS is substituted for c.HGVS, which causes a spurious error about it changing (which it will as different builds have difff contig versions)

Screenshot from 2024-05-21 11-24-18

davmlaw commented 5 months ago

And I'm not sure why this is handled slightly differently (maybe as it tries to do HGVS as it partially overlaps a gene but can't be represented as c.HGVS as it goes off transcript), but classifying "NC_000009.12:g.99044538_99087902del", even though it has an Allele (and lifted over ok between builds):

This doesn't populate c.HGVS column on classifications grid with c.HGVS, but instead shows "not resolved, showing imported GRCh38.p14"

The resolution errors are slightly different too:

davmlaw commented 5 months ago

Needs to be brought up at meeting - I vote for high priority and try to get in next Shariant release