Oncoprint annotation: stop_gain OR missense + splice region variant

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Bianca Tod

Mar 23, 2023, 9:12:55 AMMar 23
to cBioPortal for Cancer Genomics Discussion Group
Dear cBioPortal,

Please assist me with oncoprint creation:
I have the following results

p.R205* stop_gained&splice_region_variant

p.A4550T missense_variant&splice_region_variant

How should I capture these? Each as 2 separate mutations? TRUNC? and MISSENSE?

Kind regards,

JJ Gao

Apr 3, 2023, 10:49:34 AMApr 3
to Bianca Tod, cBioPortal for Cancer Genomics Discussion Group
Hi Bianca,

Sorry for the late reply

Each mutation should only be input once. For SLIT2 p.R205*, TRUNC
would be appropriate since both effects are truncting mutations. For
MYCBP2 p.A4550T, we typically choose the one with more severe effect
which is splice_region_variant and therefore you can use TRUNC too.

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