Run ID: SRR7755642
Sample name:
Date: 2024-04-15T13:09:12.657576
Number of reads: 3824398
Percentage reads mapped: 96.62
Median coverage: 76.0
Strain: lineage4.2.1
Spoligotype:
Drug-resistance: MDR-TB
| Lineage | Family | RDs | Frequency |
|---|---|---|---|
| lineage4.2 | Euro-American | None | 1.0 |
| lineage4 | Euro-American | None | 1.0 |
| lineage4.2.1 | Euro-American (TUR) | None | 0.99 |
| Drug | Resistance | Supporting mutations | WHO confidence | Comment |
|---|---|---|---|---|
| rifampicin | rpoB | p.Ser450Leu | Assoc w R | |
| isoniazid | inhA | c.-777C>T | Assoc w R | Alias fabG1_c.-15C>T. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) |
| katG | p.Ser315Thr | Assoc w R | High-level resistance | |
| ethambutol | embB | p.Ser297Ala | Uncertain significance | Mutation from literature |
| pyrazinamide | ||||
| streptomycin | rpsL | p.Lys88Arg | Assoc w R | |
| fluoroquinolones | ||||
| moxifloxacin | ||||
| ofloxacin | ||||
| levofloxacin | ||||
| ciprofloxacin | ||||
| aminoglycosides | ||||
| amikacin | rrs | n.1402C>A | Uncertain significance | Mutation from literature |
| capreomycin | rrs | n.1402C>A | Uncertain significance | Mutation from literature |
| kanamycin | rrs | n.1402C>A | Uncertain significance | Mutation from literature |
| eis | c.-12C>T | Assoc w R | ||
| cycloserine | ||||
| ethionamide | inhA | c.-777C>T | Assoc w R | Alias fabG1_c.-15C>T |
| clofazimine | ||||
| para-aminosalicylic_acid | ||||
| delamanid | ||||
| bedaquiline | ||||
| linezolid |
| Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence | Comment |
|---|---|---|---|---|---|---|---|
| rpoB | 761155 | p.Ser450Leu | missense_variant | 1.0 | rifampicin | Assoc w R | |
| rpsL | 781822 | p.Lys88Arg | missense_variant | 1.0 | streptomycin | Assoc w R | |
| rrs | 1473247 | n.1402C>A | non_coding_transcript_exon_variant | 0.11 | capreomycin | Uncertain significance | Mutation from literature |
| kanamycin | Uncertain significance | Mutation from literature | |||||
| amikacin | Uncertain significance | Mutation from literature | |||||
| inhA | 1673425 | c.-777C>T | upstream_gene_variant | 1.0 | ethionamide | Assoc w R | Alias fabG1_c.-15C>T |
| isoniazid | Assoc w R | Alias fabG1_c.-15C>T. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) | |||||
| katG | 2155168 | p.Ser315Thr | missense_variant | 1.0 | isoniazid | Assoc w R | High-level resistance |
| eis | 2715344 | c.-12C>T | upstream_gene_variant | 1.0 | kanamycin | Assoc w R | |
| embB | 4247402 | p.Ser297Ala | missense_variant | 1.0 | ethambutol | Uncertain significance | Mutation from literature |
| Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence |
|---|---|---|---|---|---|---|
| gyrA | 7362 | p.Glu21Gln | missense_variant | 1.0 | levofloxacin | Not assoc w R |
| moxifloxacin | Not assoc w R | |||||
| gyrA | 7585 | p.Ser95Thr | missense_variant | 1.0 | levofloxacin | Not assoc w R |
| moxifloxacin | Not assoc w R | |||||
| gyrA | 9304 | p.Gly668Asp | missense_variant | 1.0 | levofloxacin | Not assoc w R |
| moxifloxacin | Not assoc w R | |||||
| fgd1 | 491247 | c.465C>T | synonymous_variant | 1.0 | clofazimine | Not assoc w R - Interim |
| pretomanid | ||||||
| delamanid | Not assoc w R - Interim | |||||
| ccsA | 619969 | p.Val27Ile | missense_variant | 1.0 | capreomycin | Not assoc w R - Interim |
| amikacin | Not assoc w R | |||||
| kanamycin | Uncertain significance | |||||
| rpoC | 764817 | p.Val483Gly | missense_variant | 1.0 | rifampicin | Uncertain significance |
| mmpL5 | 775639 | p.Ile948Val | missense_variant | 1.0 | clofazimine | Not assoc w R |
| bedaquiline | Not assoc w R - Interim | |||||
| rpsL | 781395 | c.-165T>C | upstream_gene_variant | 1.0 | streptomycin | Not assoc w R |
| rplC | 800204 | c.-605T>C | upstream_gene_variant | 1.0 | linezolid | |
| rrs | 1471659 | n.-187C>T | upstream_gene_variant | 1.0 | streptomycin | |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrs | 1472172 | n.327T>C | non_coding_transcript_exon_variant | 0.11 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1472558 | n.713G>A | non_coding_transcript_exon_variant | 0.17 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472569 | n.724G>A | non_coding_transcript_exon_variant | 0.14 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472581 | n.736A>T | non_coding_transcript_exon_variant | 0.16 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1472584 | n.739A>T | non_coding_transcript_exon_variant | 0.16 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472607 | n.762G>A | non_coding_transcript_exon_variant | 0.15 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472973 | n.1128A>G | non_coding_transcript_exon_variant | 0.12 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472987 | n.1142G>A | non_coding_transcript_exon_variant | 0.12 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1472990 | n.1145A>G | non_coding_transcript_exon_variant | 0.12 | streptomycin | Uncertain significance |
| kanamycin | Not assoc w R | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1473035 | n.1190G>A | non_coding_transcript_exon_variant | 0.14 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1473055 | n.1210C>T | non_coding_transcript_exon_variant | 0.13 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1473056 | n.1211A>T | non_coding_transcript_exon_variant | 0.14 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Not assoc w R | |||||
| rrs | 1473066 | n.1221A>G | non_coding_transcript_exon_variant | 0.15 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Uncertain significance | |||||
| amikacin | Uncertain significance | |||||
| rrs | 1473252 | n.1407T>C | non_coding_transcript_exon_variant | 0.11 | streptomycin | Uncertain significance |
| kanamycin | Not assoc w R | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| rrl | 1474505 | n.848C>G | non_coding_transcript_exon_variant | 0.1 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1474516 | n.859C>A | non_coding_transcript_exon_variant | 0.13 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1474529 | n.872A>C | non_coding_transcript_exon_variant | 0.14 | capreomycin | |
| linezolid | ||||||
| rrl | 1474530 | n.873G>A | non_coding_transcript_exon_variant | 0.13 | capreomycin | |
| linezolid | ||||||
| rrl | 1474537 | n.880G>A | non_coding_transcript_exon_variant | 0.11 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1474539 | n.882C>T | non_coding_transcript_exon_variant | 0.11 | capreomycin | |
| linezolid | ||||||
| rrl | 1474540 | n.883T>G | non_coding_transcript_exon_variant | 0.12 | capreomycin | |
| linezolid | ||||||
| rrl | 1474794 | n.1137C>T | non_coding_transcript_exon_variant | 0.12 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1474823 | n.1166C>G | non_coding_transcript_exon_variant | 0.17 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1474827 | n.1170C>T | non_coding_transcript_exon_variant | 0.18 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1474830 | n.1173A>T | non_coding_transcript_exon_variant | 0.18 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1474831 | n.1174A>C | non_coding_transcript_exon_variant | 0.18 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1474864 | n.1207C>T | non_coding_transcript_exon_variant | 0.16 | capreomycin | Not assoc w R |
| linezolid | Uncertain significance | |||||
| rrl | 1475722 | n.2065G>T | non_coding_transcript_exon_variant | 0.13 | capreomycin | |
| linezolid | ||||||
| rrl | 1475753 | n.2096C>T | non_coding_transcript_exon_variant | 0.11 | capreomycin | Uncertain significance |
| linezolid | ||||||
| rrl | 1475767 | n.2110_2112delGGTinsTC | non_coding_transcript_exon_variant | 0.12 | capreomycin | |
| linezolid | ||||||
| rrl | 1475869 | n.2212C>A | non_coding_transcript_exon_variant | 0.14 | capreomycin | |
| linezolid | ||||||
| rrl | 1475881 | n.2224T>C | non_coding_transcript_exon_variant | 0.14 | capreomycin | |
| linezolid | ||||||
| rrl | 1475883 | n.2226A>C | non_coding_transcript_exon_variant | 0.14 | capreomycin | Uncertain significance |
| linezolid | ||||||
| rrl | 1475884 | n.2227A>G | non_coding_transcript_exon_variant | 0.14 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475898 | n.2241A>G | non_coding_transcript_exon_variant | 0.18 | capreomycin | Uncertain significance |
| linezolid | ||||||
| rrl | 1475899 | n.2242G>A | non_coding_transcript_exon_variant | 0.18 | capreomycin | Uncertain significance |
| linezolid | ||||||
| rrl | 1475916 | n.2259C>G | non_coding_transcript_exon_variant | 0.17 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475943 | n.2286G>A | non_coding_transcript_exon_variant | 0.19 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475952 | n.2295A>G | non_coding_transcript_exon_variant | 0.2 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475963 | n.2306G>A | non_coding_transcript_exon_variant | 0.19 | capreomycin | |
| linezolid | ||||||
| rrl | 1475970 | n.2313C>T | non_coding_transcript_exon_variant | 0.16 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475975 | n.2318C>T | non_coding_transcript_exon_variant | 0.14 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475977 | n.2320A>G | non_coding_transcript_exon_variant | 0.12 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475978 | n.2321C>T | non_coding_transcript_exon_variant | 0.12 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| rrl | 1475988 | n.2331A>G | non_coding_transcript_exon_variant | 0.1 | capreomycin | Not assoc w R |
| linezolid | Uncertain significance | |||||
| rrl | 1476381 | n.2724G>C | non_coding_transcript_exon_variant | 0.13 | capreomycin | Uncertain significance |
| linezolid | Uncertain significance | |||||
| tsnR | 1854300 | p.Leu232Pro | missense_variant | 1.0 | linezolid | Not assoc w R |
| tlyA | 1917972 | c.33A>G | synonymous_variant | 1.0 | capreomycin | Not assoc w R |
| bacA | 2063685 | c.1044G>A | synonymous_variant | 1.0 | streptomycin | Not assoc w R - Interim |
| kanamycin | Not assoc w R - Interim | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| bacA | 2063911 | p.Ile273Thr | missense_variant | 1.0 | streptomycin | Uncertain significance |
| kanamycin | Uncertain significance | |||||
| capreomycin | Not assoc w R | |||||
| amikacin | Not assoc w R | |||||
| PPE35 | 2169879 | p.Phe245Cys | missense_variant | 1.0 | pyrazinamide | Uncertain significance |
| Rv1979c | 2223293 | c.-129A>G | upstream_gene_variant | 1.0 | clofazimine | Not assoc w R |
| bedaquiline | Not assoc w R - Interim | |||||
| ald | 3086742 | c.-78A>C | upstream_gene_variant | 1.0 | cycloserine | |
| ald | 3086788 | c.-32T>C | upstream_gene_variant | 1.0 | cycloserine | |
| lpqB | 3623222 | c.1689A>G | synonymous_variant | 0.97 | bedaquiline | Not assoc w R - Interim |
| rifampicin | Not assoc w R - Interim | |||||
| mtrB | 3625065 | p.Met517Leu | missense_variant | 1.0 | bedaquiline | Uncertain significance |
| rifampicin | Not assoc w R | |||||
| embC | 4242643 | c.2781C>T | synonymous_variant | 1.0 | ethambutol | Not assoc w R |
| embB | 4249594 | c.3081G>A | synonymous_variant | 1.0 | ethambutol | Not assoc w R - Interim |
| ethA | 4326632 | p.His281Pro | missense_variant | 1.0 | ethionamide | Uncertain significance |
| ethA | 4328376 | c.-903G>C | upstream_gene_variant | 1.0 | ethionamide | |
| whiB6 | 4338595 | c.-75delG | upstream_gene_variant | 1.0 | capreomycin | Not assoc w R |
| amikacin | Not assoc w R | |||||
| kanamycin | Not assoc w R | |||||
| whiB6 | 4338732 | c.-211C>T | upstream_gene_variant | 1.0 | capreomycin | |
| amikacin | ||||||
| kanamycin |