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Conflicting annotations between HGVSp, HGVSp_Short, and Genomic_Change #194

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ibrahimkurt opened this issue Mar 2, 2023 · 1 comment

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@ibrahimkurt
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ibrahimkurt commented Mar 2, 2023

Example 1:

When we run this BRAF entry with an insertion mutation in this MAF file via mafannotator.py script, -q HGVSp, -q HGVSp_Short , and -q Genomic_Change returns conflicting different results:

Annotation by Genomic_Change returns Unknown.
Annotation by HGVSp returns Likely Oncogenic.
Annotation by HGVSp_Short returns Likely Oncogenic.

It seems like the correct call is Likely Oncogenic w/ drug recommendations as shown here: https://www.oncokb.org/gene/BRAF/G506_S507insISQ

The question is what is the reason for the conflict between annotations by HGVSp, HGVSp_Short and Genomic_Change?

@ibrahimkurt
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ibrahimkurt commented Mar 2, 2023

Example 2:

When we run this another BRAF entry with a missense mutation in this MAF file via mafannotator.py script, -q HGVSp, -q HGVSp_Short , and -q Genomic_Change returns conflicting different results:

Annotation by Genomic_Change returns Likely Oncogenic.
Annotation by HGVSp returns Unknown.
Annotation by HGVSp_Short returns Unknown.

It seems like the correct call is Likely Oncogenic w/ drug recommendations as shown here: https://www.oncokb.org/gene/BRAF/L505F

The question is what is the reason for the conflict between annotations by HGVSp, HGVSp_Short and Genomic_Change?

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