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Wrong transcript effect produced for BRCA2 variant #409

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xiamaz opened this issue Mar 15, 2024 · 0 comments
Closed

Wrong transcript effect produced for BRCA2 variant #409

xiamaz opened this issue Mar 15, 2024 · 0 comments
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@xiamaz @tedil
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@xiamaz
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xiamaz commented Mar 15, 2024

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
@xiamaz xiamaz added the bug Something isn't working label Mar 15, 2024
@xiamaz xiamaz moved this from To triage to Ready in Release Planning Mar 15, 2024
@xiamaz xiamaz self-assigned this Mar 15, 2024
@xiamaz xiamaz moved this from Ready to In progress in Release Planning Mar 15, 2024
@tedil tedil self-assigned this Mar 21, 2024
@tedil tedil mentioned this issue Mar 25, 2024
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@xiamaz xiamaz closed this as completed Mar 28, 2024
@github-project-automation github-project-automation bot moved this from In progress to Done in Release Planning Mar 28, 2024
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@xiamaz @tedil