Open rosaricla opened 1 year ago
Hey @rosaricla, hope you are having a nice day!
Could you please send me the VEP command that returns that output? Did you use shifting arguments (e.g., --shift_genomic
)?
Kind regards, Nuno
Hi @nuno-agostinho ,
Thank you for checking this out. The VEP command will be the following:
/opt/vep/src/ensembl-vep/vep --cache --offline --force_overwrite --show_ref_allele --numbers --fork 15 --refseq --cache_version 104 --dir_cache /task/in/SNP/VEP/cache/ --dir_plugins /opt/vep/Plugins --fasta /task/in/SNP/VEP/cache/homo_sapiens_refseq/104_GRCh37/Homo_sapiens.GRCh37.75.dna.primary_assembly.fa --assembly GRCh37 -i sample_23456789.vcf -o sample_23456789_VEP_output.tsv --hgvs --hgvsg --symbol
And the output for the variant of interest:
rs606231128 chr4:3494833-3494834 GCCT 285489 NM_173660.5 Transcript frameshift_variant 1190-1191 1120-1121 374 S/SLX agc/aGCCTgc - REF_ALLELE=-;IMPACT=HIGH;STRAND=1;SYMBOL=DOK7;SYMBOL_SOURCE=EntrezGene;GIVEN_REF=-;USED_REF=-;BAM_EDIT=OK;EXON=7/7;HGVSc=NM_173660.5:c.1124_1127dup;HGVSp=NP_775931.3:p.Ala377ProfsTer31;HGVS_OFFSET=7;HGVSg=chr4:g.3494837_3494840dup
Best regards, Rosa
This sounds like it's related to the HGVS duplication bug I reported here: #712
I am having a possibly related issue with this inframe insertion in a poly-Q stretch:
https://grch37.rest.ensembl.org/vep/human/hgvs/12:g124887095_124887096insCTG?hgvs=1&refseq=1
VEP shifts this variant somehow too far and reports NP_006303.4:p.Pro511_Met512insAla, however this variant is actually https://www.ncbi.nlm.nih.gov/clinvar/variation/1181246/ (NP_006303.4:p.Gln510dup)
Hi @rosaricla ,
Hope you are doing well. Are you still facing this issue with release/112
?
Describe the issue
VEP performed incorrect pHGVS annotation for the variant
NM_173660.5:c.1124_1127dup (rs606231128)
. VEP annotated the variant asNP_775931.3:p.Ala377ProfsTer31
when the correct annotation should beNP_775931.3:p.Ala378Serfs*30
Additional information
Links to the variant with correct annotation:
System