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