charite/jannovar

Problem of HGVSc conversion

smw1414 opened this issue · 1 comments

Describe the bug
Hi jannovar team,

java -jar jannovar-cli-0.36.jar annotate-pos -c 'chr9:92474742CTCA>C' -d data/refseq_curated_109_hg38.ser
>> chr9:92474742CTCA>C     DISRUPTIVE_INFRAME_DELETION     ASPN:NM_001193335.1:c.153del:p.(*243_F242del)   .

The ser file was downloaded from https://github.com/charite/jannovar#databases.
I think the HGVSc should be c.153_155del but not c.153del. Please help to confirm, thank you.

To Reproduce
NA

Expected behavior
NA

Additional context
NA

Thanks for reporting this.

I ran this through variant validator and it gives the following errors:

image

My interpretation is that this is a problematic transcript.

Please re-open issue if you have more questions.