Webservice HGVS BRCA1 c.3909dupT incorrect

broadinstitute / oncotator

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Open inodb opened 9 years ago

inodb commented 9 years ago

I believe the correct annotation for:

$ curl 'http://www.broadinstitute.org/oncotator/mutation/17_41243639_41243640_-_A/' | jq '.HGVS_coding_DNA_change'
"ENST00000357654.3:c.3909dupT"

Should actually be c.3908dupT, since 3909 is a G, not a T in ENST00000357654.3. This corresponds with http://www.ncbi.nlm.nih.gov/clinvar/RCV000112210/

inodb commented 9 years ago

Found another BRCA1 duplication that is off by one:

$ curl 'http://www.broadinstitute.org/oncotator/mutation/17_41209079_41209080_-_G/' | jq '.HGVS_coding_DNA_change'
"ENST00000357654.3:c.5267dupC"

Should be c.5266dupC since 5267 is an A