knowledgesystems / pipelines-scrum

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Investigate "MUTATED" annotation for multiple records in MSK-IMPACT data_mutations_extended.txt (as of 6/21/2024) #1344

Open n1zea144 opened 1 week ago

n1zea144 commented 1 week ago

Done Condition (What do we need? Why do we need it? Keep this is small as possible!)

As reported by Enrico Mioso:

I was working on one case for the breast molecular tumor board and I’ve found the following issue (and Walid suggested me to reach to you): Pt P-0103770 has IMPACT on 2 samples. Both samples have the TP53 p.R213* but in cbioportal in one case it is properly called while in the other is called TP53 MUTATED This is not incongruence is not observed in CVR nor in the report. If I look a the maf file from github I've noticed something being off. The Entrez ID is 0, the NCBI_build is 37 and the is a left shift for Consequence/Variant_Classification. Diving in the data_mutations_extended.txt (v. 2024_06_21) there are 474 cases with NCBI_build == 37 and 133023 cases with EntrezID == 0. I hope this is useful, happy to provide more info

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