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Termination positions for Frameshift/Nonesence SeqVars are not set properly #56

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gromdimon opened this issue Apr 17, 2024 · 3 comments
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bug Something isn't working internal Internal change

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@gromdimon
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Describe the bug
In some decision blocks we rely on Termination position of the Variant if it's the frameshift/nonesence one. Currently we use pHGVS attribute for the determination of this, but due to many missing values of pHGVSs we have to find better approach to do this.

To Reproduce
Example:
NM_004360.3:c.2506G>T (p.Glu836Ter) (Gene: CDH1)
It gives the pHGVS result by Autopvs1 as NP_004351.1:p.Glu836Ter
compare to one from mehari: 'NM_004360.5:p.?'
this results in different results of termination position.

Expected behavior
The termination positions should be computed in the unified way.

Screenshots
N/A

Additional context
It seems, that mehari lacks some data of pHGVS. In this case, we have to find an alternative way of findng the termination position.

Affected method: _get_pHGVS_termination

@gromdimon gromdimon added the bug Something isn't working label Apr 17, 2024
@gromdimon gromdimon self-assigned this Apr 17, 2024
@xiamaz
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xiamaz commented Apr 17, 2024

This looks like a mehari bug. Could you create an issue there? I'll try to prioritize it and perform root-cause analysis.

@gromdimon
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Here: varfish-org/mehari#437

@gromdimon gromdimon added the internal Internal change label Apr 29, 2024
@gromdimon
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The issue is stilll on mehari site, but in auto-acmg it's outdated

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