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Synonymous Insertion before stop codon annotated as non silent insert #201

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joaoe opened this issue Oct 26, 2016 · 2 comments
Open

Synonymous Insertion before stop codon annotated as non silent insert #201

joaoe opened this issue Oct 26, 2016 · 2 comments

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@joaoe
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joaoe commented Oct 26, 2016

Testcase, genome GRCm38 over transcript ENSMUST00000086738

##fileformat=VCFv4.1
#CHROM  POS ID  REF ALT QUAL    FILTER  INFO    FORMAT
# Synonymous Insertion of an AA and new stop codon before the original stop codon:
# TTC ATC TGA -> TTC ATA TAA ATC TGA
chr1    100484695   .   C   CATATAA 5000    .   .   .

Varcode annotates this as

Insertion(variant=chr1 g.100484695_100484696insATATAA, transcript_id=ENSMUST00000086738, effect_description=p.1291insI)
* aa_mutation_start_offset=1291
* aa_mutation_end_offset=1292
* aa_ref=''
* aa_alt='I'

This should instead be a Silent() effect.

@joaoe
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joaoe commented Oct 27, 2016

In case you're wondering, the variant that showed this bug is in the cosmic VCF files (GRCh38).

14   38210558     C       CGCTCTGAGCCCGGGCCACGCAGGG

@joaoe
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joaoe commented Dec 5, 2016

Also, although this might seem far fetched, if the variant caller has a low gap penalty, it could choose to produce this kind of indel instead of a bunch of SNPs close by.

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