Wrong transcript effect produced for BRCA2 variant - Githubissues

varfish-org / mehari

VEP-like tool for sequence ontology and HGVS annotation of VCF files

MIT License

14 stars 1 forks source link

Wrong transcript effect produced for BRCA2 variant #409

Closed xiamaz closed 3 months ago

xiamaz commented 3 months ago

Describe the bug chr13:32,315,669 is a BRCA2 variant (acc GRCh38 MANE [NC_000013.11 (32315508..32400268)], intronic/splice)

To Reproduce Query mehari using chr change.

Expected behavior BRCA2 impact should be reported.

Not the ZAR1L report.

Additional context See attached files.

mehari-db-dump-BRCA2.txt mehari_seqvars.gts.32315669.txt mehari-db-dump-ZAR1L.txt BRCA2-chr13-32315669