Open AccessMET D1228N and D1246N are the Same Resistance Mutation in MET Exon 14 Skipping
Author(s) -
Tsai Jonathan M.,
Hata Aaron N.,
Lennerz Jochen K.
Publication year - 2021
Publication title -
the oncologist
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.176
H-Index - 164
eISSN - 1549-490X
pISSN - 1083-7159
DOI - 10.1002/onco.13924
Subject(s) - exon , annotation , precision oncology , dna sequencing , computational biology , medicine , genetics , mutation , exon skipping , bioinformatics , precision medicine , dna , gene , biology , alternative splicing
Comprehensive genetic profiling using next‐generation sequencing technologies has become an integral part of precision oncology. Variant annotation requires translating the DNA findings into protein level predictions. In this article we highlight inconsistencies in variant annotation for the MET D1228N exon 19 resistance mutations. MET D1228N and D1246N represent the same resistance mutation in MET exon 14 skipping alterations annotated on different transcripts. Additional examples of relevant variants annotated on different transcripts emphasize the importance of avoiding erroneous interpretation when realizing precision oncology.