Insertions are not annotated for splicing
dmb107 opened this issue · 3 comments
Describe the bug
I am not sure if this is a bug or intentional design, but I am noticing that insertion variants are not annotated for splicing information. I do not see the relevant splicing annotation logic in the InsertionAnnotationBuilder
that I see in the DeletionAnnotationBuilder
:
Is Jannovar intentionally not considering splicing for insertions?
To Reproduce
Here is a left-aligned insertion that I expect to receive splice_region_variant
based on the genomic position.
annotate-var/refseq/hg19/chrX/108924495/C/CTTA
[
{
"transcriptId": "NM_001318509.2",
"variantEffects": [
"disruptive_inframe_insertion"
],
"isCoding": true,
"hgvsProtein": "p.(L212_K213insN)",
"hgvsNucleotides": "c.636_638dup"
},
{
"transcriptId": "NM_001318510.2",
"variantEffects": [
"disruptive_inframe_insertion"
],
"isCoding": true,
"hgvsProtein": "p.(L171_K172insN)",
"hgvsNucleotides": "c.513_515dup"
},
{
"transcriptId": "NM_004458.3",
"variantEffects": [
"disruptive_inframe_insertion"
],
"isCoding": true,
"hgvsProtein": "p.(L171_K172insN)",
"hgvsNucleotides": "c.513_515dup"
},
{
"transcriptId": "NM_022977.3",
"variantEffects": [
"disruptive_inframe_insertion"
],
"isCoding": true,
"hgvsProtein": "p.(L212_K213insN)",
"hgvsNucleotides": "c.636_638dup"
}
]
Additional context
I ran VEP online to compare and found that the insertion is annotated with splice_region_variant
.
Example variant with region chr1:23685940-23696357
SNV with splice_region_variant (positive control)
{
"assembly": "GRCh37",
"ref": "T",
"alt": "C",
"contig": "chr1",
"start": 23693536,
"stop": 23693536,
"variant_type": "snv",
"annotators": ["Jannovar"]
}
"data": {
"transcriptId": "NM_001077195.2",
"source": "refseq",
"variantEffects": [
"splice_region_variant",
"synonymous_variant"
],
"isCoding": true,
"hgvsProtein": "p.(=)",
"hgvsNucleotides": "c.159A>G"
},
Insertion within splice_region_variant boundaries without annotation:
{
"assembly": "GRCh37",
"ref": "T",
"alt": "TCA",
"contig": "chr1",
"start": 23693536,
"stop": 23693537,
"variant_type": "ins",
"annotators": ["Jannovar"]
}
"data": {
"transcriptId": "NM_001077195.2",
"source": "refseq",
"variantEffects": [
"frameshift_elongation"
],
"isCoding": true,
"hgvsProtein": "p.(D54Efs*11)",
"hgvsNucleotides": "c.158_159insTG"
},
Good catch, thank you.
@holtgrewe we're happy to contribute!