{"variant":"7:g.55248980_55248981insTCCAGGAAGCCT","colocatedVariants":[{"dbSnpId":"rs397517106"}],"originalVariantQuery":"7:g.55248980_55248981insTCCAGGAAGCCT","hgvsg":"7:g.55248980_55248981insTCCAGGAAGCCT","id":"7:g.55248980_55248981insTCCAGGAAGCCT","assembly_name":"GRCh37","seq_region_name":"7","start":55248981,"end":55248980,"allele_string":"-/TCCAGGAAGCCT","strand":1,"most_severe_consequence":"splice_region_variant","transcript_consequences":[{"transcript_id":"ENST00000275493","hgvsc":"ENST00000275493.2:c.2284-5_2290dup","variant_allele":"TCCAGGAAGCCT","protein_id":"ENSP00000275493","gene_symbol":"EGFR","gene_id":"ENSG00000146648","hgnc_id":"3236","canonical":"1","refseq_transcript_ids":["NM_005228.3"],"consequence_terms":["splice_region_variant","intron_variant"]},{"exon":"2/2","transcript_id":"ENST00000442411","hgvsc":"ENST00000442411.1:n.1257_1268dup","variant_allele":"TCCAGGAAGCCT","gene_symbol":"EGFR-AS1","gene_id":"ENSG00000224057","hgnc_id":"40207","consequence_terms":["non_coding_transcript_exon_variant"]},{"transcript_id":"ENST00000442591","hgvsc":"ENST00000442591.1:c.*28+8360_*28+8371dup","variant_allele":"TCCAGGAAGCCT","protein_id":"ENSP00000410031","gene_symbol":"EGFR","gene_id":"ENSG00000146648","hgnc_id":"3236","consequence_terms":["intron_variant"]},{"transcript_id":"ENST00000454757","hgvsc":"ENST00000454757.2:c.2125-5_2131dup","variant_allele":"TCCAGGAAGCCT","protein_id":"ENSP00000395243","gene_symbol":"EGFR","gene_id":"ENSG00000146648","hgnc_id":"3236","consequence_terms":["splice_region_variant","intron_variant"]},{"transcript_id":"ENST00000455089","hgvsc":"ENST00000455089.1:c.2149-5_2155dup","variant_allele":"TCCAGGAAGCCT","protein_id":"ENSP00000415559","gene_symbol":"EGFR","gene_id":"ENSG00000146648","hgnc_id":"3236","consequence_terms":["splice_region_variant","intron_variant"]}],"successfully_annotated":true,"annotation_summary":{"variant":"7:g.55248980_55248981insTCCAGGAAGCCT","genomicLocation":{"chromosome":"7","start":55248980,"end":55248981,"referenceAllele":"-","variantAllele":"TCCAGGAAGCCT"},"strandSign":"+","variantType":"INS","assemblyName":"GRCh37","canonicalTranscriptId":"ENST00000275493","transcriptConsequences":[{"transcriptId":"ENST00000275493","entrezGeneId":"1956","consequenceTerms":"splice_region_variant,intron_variant","hugoGeneSymbol":"EGFR","hgvspShort":"p.A763_Y764insFQEA","hgvsc":"ENST00000275493.2:c.2284-5_2290dup","proteinPosition":{"start":763,"end":764},"refSeq":"NM_005228.3","variantClassification":"In_Frame_Ins","uniprotId":"P00533","isVue":true}],"transcriptConsequenceSummaries":[{"transcriptId":"ENST00000275493","entrezGeneId":"1956","consequenceTerms":"splice_region_variant,intron_variant","hugoGeneSymbol":"EGFR","hgvspShort":"p.A763_Y764insFQEA","hgvsc":"ENST00000275493.2:c.2284-5_2290dup","proteinPosition":{"start":763,"end":764},"refSeq":"NM_005228.3","variantClassification":"In_Frame_Ins","uniprotId":"P00533","isVue":true},{"transcriptId":"ENST00000442411","entrezGeneId":"100507500","consequenceTerms":"non_coding_transcript_exon_variant","hugoGeneSymbol":"EGFR-AS1","hgvspShort":"p.*419*","hgvsc":"ENST00000442411.1:n.1257_1268dup","variantClassification":"RNA","exon":"2/2"},{"transcriptId":"ENST00000442591","entrezGeneId":"1956","consequenceTerms":"intron_variant","hugoGeneSymbol":"EGFR","hgvsc":"ENST00000442591.1:c.*28+8360_*28+8371dup","variantClassification":"Intron"},{"transcriptId":"ENST00000454757","entrezGeneId":"1956","consequenceTerms":"splice_region_variant,intron_variant","hugoGeneSymbol":"EGFR","hgvspShort":"p.X709_splice","hgvsc":"ENST00000454757.2:c.2125-5_2131dup","proteinPosition":{"start":709,"end":709},"variantClassification":"Splice_Region"},{"transcriptId":"ENST00000455089","entrezGeneId":"1956","consequenceTerms":"splice_region_variant,intron_variant","hugoGeneSymbol":"EGFR","hgvspShort":"p.X717_splice","hgvsc":"ENST00000455089.1:c.2149-5_2155dup","proteinPosition":{"start":717,"end":717},"variantClassification":"Splice_Region"}],"transcriptConsequenceSummary":{"transcriptId":"ENST00000275493","entrezGeneId":"1956","consequenceTerms":"splice_region_variant,intron_variant","hugoGeneSymbol":"EGFR","hgvspShort":"p.A763_Y764insFQEA","hgvsc":"ENST00000275493.2:c.2284-5_2290dup","proteinPosition":{"start":763,"end":764},"refSeq":"NM_005228.3","variantClassification":"In_Frame_Ins","uniprotId":"P00533","isVue":true},"vues":{"hugoGeneSymbol":"EGFR","genomicLocationDescription":"5 bases upstream from the 5' end of exon 20 (7:g.55248980_55248981insTCCAGGAAGCCT)","defaultEffect":"splice","comment":"Inset a repeated sequence from 55248980-55248992","variant":"7:g.55248980_55248981insTCCAGGAAGCCT","genomicLocation":"7,55248980,55248981,-,TCCAGGAAGCCT","transcriptId":"ENST00000275493","revisedProteinEffect":"p.A763_Y764insFQEA","revisedVariantClassification":"Splice_Exon_Extension_In_Frame","revisedVariantClassificationStandard":"In_Frame_Ins","context":"Recurrent in lung cancer, can be linked to Level 1 TKIs","vepPredictedProteinEffect":"p.X762_splice","vepPredictedVariantClassification":"Splice_Region","mutationOrigin":null,"references":[{"pubmedId":31715539,"referenceText":"Sousa et al., 2020"}],"confirmed":true}}}