Variant in an interstitial undefined region fails validation
leicray opened this issue · 1 comments
leicray commented
Describe the bug
An anonymous user submitted the variant description chr15:9459340_9459360dup
(GRCh37) which resulted in an ERROR message to the sysops.
The 21-nucleotide duplication lies in chr15p11.2 in a region of undefined nucleotide sequence. For GRCh37 there is a sequence gap from 10001 to17000000. This ought to have been trapped by VariantValidator.
Peter-J-Freeman commented
On the next server update this will now give
{
"flag": "warning",
"metadata": {
"variantvalidator_hgvs_version": "2.2.0",
"variantvalidator_version": "2.2.1.dev709+g6340024",
"vvdb_version": "vvdb_2024_8",
"vvseqrepo_db": "VV_SR_2024_09/master",
"vvta_version": "vvta_2024_09"
},
"validation_warning_1": {
"alt_genomic_loci": [],
"annotations": {},
"gene_ids": {},
"gene_symbol": "",
"genome_context_intronic_sequence": "",
"hgvs_lrg_transcript_variant": "",
"hgvs_lrg_variant": "",
"hgvs_predicted_protein_consequence": {
"lrg_slr": "",
"lrg_tlr": "",
"slr": "",
"tlr": ""
},
"hgvs_refseqgene_variant": "",
"hgvs_transcript_variant": "",
"primary_assembly_loci": {},
"reference_sequence_records": "",
"refseqgene_context_intronic_sequence": "",
"rna_variant_descriptions": null,
"selected_assembly": "GRCh37",
"submitted_variant": "chr15:9459340_9459360dup",
"transcript_description": "",
"validation_warnings": [
"This is not a valid HGVS variant description, because no reference sequence ID has been provided",
"UncertainSequenceError: The submitted variant description NC_000015.9:g.9459340_9459360dupNNNNNNNNNNNNNNNNNNNNN refers to a genomic reference region with an uncertain base composition (N)"
],
"variant_exonic_positions": null
}
}