Oncoprint annotation: stop_gain OR missense + splice region variant

[Bianca Tod]

Dear cBioPortal,

Please assist me with oncoprint creation:

I have the following results

SLIT2 p.R205* stop_gained&splice_region_variant

MYCBP2 p.A4550T missense_variant&splice_region_variant

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

Kind regards,

Bianca

[JJ Gao]

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.

-JJ

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