// Protocol buffers for types for per-gene impact. syntax = "proto3"; package annonars.clinvar_data.gene_impact; import "annonars/clinvar_data/clinvar_public.proto"; // Enumeration with the variant consequence. enum GeneImpact { // unspecified impact GENE_IMPACT_UNSPECIFIED = 0; // Corresponds to "3_prime_UTR_variant" GENE_IMPACT_THREE_PRIME_UTR_VARIANT = 1; // Corresponds to "5_prime_UTR_variant" GENE_IMPACT_FIVE_PRIME_UTR_VARIANT = 2; // Corresponds to "downstream_gene_variant" GENE_IMPACT_DOWNSTREAM_TRANSCRIPT_VARIANT = 3; // Corresponds to "frameshift_variant" GENE_IMPACT_FRAMESHIFT_VARIANT = 4; // Corresponds to "inframe_indel" GENE_IMPACT_INFRAME_INDEL = 5; // Corresponds to "start_lost" GENE_IMPACT_START_LOST = 6; // Corresponds to "intron_variant" GENE_IMPACT_INTRON_VARIANT = 7; // Corresponds to "missense_variant" GENE_IMPACT_MISSENSE_VARIANT = 8; // Corresponds to "non_codnig_transcript_variant" GENE_IMPACT_NON_CODING_TRANSCRIPT_VARIANT = 9; // Corresponds to "stop_gained" GENE_IMPACT_STOP_GAINED = 10; // Corresponds to "no_sequence_alteration" GENE_IMPACT_NO_SEQUENCE_ALTERATION = 11; // Corresponds to "splice_acceptor_variant" GENE_IMPACT_SPLICE_ACCEPTOR_VARIANT = 12; // Corresponds to "splice_donor_variant" GENE_IMPACT_SPLICE_DONOR_VARIANT = 13; // Corresponds to "stop_lost" GENE_IMPACT_STOP_LOST = 14; // Corresponds to "synonymous_variant" GENE_IMPACT_SYNONYMOUS_VARIANT = 15; // Corresponds to "upstream_gene_variant" GENE_IMPACT_UPSTREAM_TRANSCRIPT_VARIANT = 16; } // Enumeration for ACMG clinical significance. enum ClinicalSignificance { // unspecified clinical significance CLINICAL_SIGNIFICANCE_UNSPECIFIED = 0; // Corresponds to "Benign" CLINICAL_SIGNIFICANCE_BENIGN = 1; // Corresponds to "Likely benign" CLINICAL_SIGNIFICANCE_LIKELY_BENIGN = 2; // Corresponds to "Uncertain significance" CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE = 3; // Corresponds to "Likely pathogenic" CLINICAL_SIGNIFICANCE_LIKELY_PATHOGENIC = 4; // Corresponds to "Pathogenic" CLINICAL_SIGNIFICANCE_PATHOGENIC = 5; // Corresponds to "not provided" CLINICAL_SIGNIFICANCE_NOT_PROVIDED = 6; // Corresponds to "other" CLINICAL_SIGNIFICANCE_OTHER = 7; } // Entry for storing counts of `GeneImpact` and `ClinicalSignificance`. message GeneImpactCounts { // Stores the counts for a gene impact. message ImpactCounts { // The gene impact. GeneImpact gene_impact = 1; // The counts for the benign impact. uint32 count_benign = 2; // The counts for the likely benign impact. uint32 count_likely_benign = 3; // The counts for the uncertain significance impact. uint32 count_uncertain_significance = 4; // The counts for the likely pathogenic impact. uint32 count_likely_pathogenic = 5; // The counts for the pathogenic impact. uint32 count_pathogenic = 6; } // The gene HGNC ID. string hgnc_id = 1; // The impact counts. repeated ImpactCounts impact_counts = 2; }