Run ID: ERR10748114
Sample name:
Date: 2024-04-15T06:22:23.443169
Number of reads: 1537807
Percentage reads mapped: 99.92
Median coverage: 80.0
Strain: lineage2.2.1;lineage4.8.1
Spoligotype:
Drug-resistance: Pre-XDR-TB
| Lineage | Family | RDs | Frequency |
|---|---|---|---|
| lineage2 | East-Asian | RD105 | 0.3 |
| lineage2.2.1 | East-Asian (Beijing) | RD105;RD207;RD181 | 0.27 |
| lineage2.2 | East-Asian (Beijing) | RD105;RD207 | 0.25 |
| lineage4 | Euro-American | None | 0.72 |
| lineage4.8 | Euro-American (mainly T) | RD219 | 0.72 |
| lineage4.8.1 | Euro-American (mainly T) | RD219 | 0.73 |
| Drug | Resistance | Supporting mutations | WHO confidence | Comment |
|---|---|---|---|---|
| rifampicin | rpoB | p.Ser450Leu | Assoc w R | |
| isoniazid | katG | p.Ser315Thr | Assoc w R | High-level resistance |
| ethambutol | embB | p.Met306Ile | Assoc w R | |
| pyrazinamide | pncA | p.Thr160Ala | Not assoc w R - Interim | Mutation from literature |
| p.Thr100Ile | Uncertain significance | Mutation from literature | ||
| streptomycin | ||||
| fluoroquinolones | ||||
| moxifloxacin | gyrA | p.Asp94Gly | Assoc w R | High-level resistance |
| ofloxacin | ||||
| levofloxacin | gyrA | p.Asp94Gly | Assoc w R | |
| ciprofloxacin | ||||
| aminoglycosides | ||||
| amikacin | ||||
| capreomycin | ||||
| kanamycin | ||||
| cycloserine | ||||
| ethionamide | ethA | p.Gly43Cys | Uncertain significance | Mutation from literature |
| clofazimine | ||||
| para-aminosalicylic_acid | ||||
| delamanid | ||||
| bedaquiline | ||||
| linezolid |
| Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence | Comment |
|---|---|---|---|---|---|---|---|
| gyrA | 7582 | p.Asp94Gly | missense_variant | 0.41 | moxifloxacin | Assoc w R | High-level resistance |
| levofloxacin | Assoc w R | ||||||
| rpoB | 761155 | p.Ser450Leu | missense_variant | 0.23 | rifampicin | Assoc w R | |
| katG | 2155168 | p.Ser315Thr | missense_variant | 0.3 | isoniazid | Assoc w R | High-level resistance |
| pncA | 2288764 | p.Thr160Ala | missense_variant | 0.42 | pyrazinamide | Not assoc w R - Interim | Mutation from literature |
| pncA | 2288943 | p.Thr100Ile | missense_variant | 0.4 | pyrazinamide | Uncertain significance | Mutation from literature |
| embB | 4247431 | p.Met306Ile | missense_variant | 0.28 | ethambutol | Assoc w R | |
| ethA | 4327347 | p.Gly43Cys | missense_variant | 0.34 | ethionamide | Uncertain significance | Mutation from literature |
| Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence |
|---|---|---|---|---|---|---|
| gyrA | 7114 | c.-188C>G | upstream_gene_variant | 0.67 | levofloxacin | |
| moxifloxacin | ||||||
| gyrA | 7362 | p.Glu21Gln | missense_variant | 1.0 | levofloxacin | Not assoc w R |
| moxifloxacin | Not assoc w R | |||||
| gyrA | 7585 | p.Ser95Thr | missense_variant | 0.37 | levofloxacin | Not assoc w R |
| moxifloxacin | Not assoc w R | |||||
| gyrA | 9304 | p.Gly668Asp | missense_variant | 0.51 | levofloxacin | Not assoc w R |
| moxifloxacin | Not assoc w R | |||||
| fgd1 | 491328 | c.546C>G | synonymous_variant | 0.37 | clofazimine | |
| pretomanid | ||||||
| delamanid | ||||||
| fgd1 | 491330 | p.Lys183Met | missense_variant | 0.36 | clofazimine | Uncertain significance |
| pretomanid | ||||||
| delamanid | Uncertain significance | |||||
| fgd1 | 491742 | c.960T>C | synonymous_variant | 0.3 | clofazimine | Not assoc w R |
| pretomanid | ||||||
| delamanid | Not assoc w R - Interim | |||||
| mshA | 575907 | p.Ala187Val | missense_variant | 0.28 | ethionamide | Not assoc w R |
| isoniazid | Not assoc w R | |||||
| ccsA | 620625 | p.Ile245Met | missense_variant | 0.39 | capreomycin | Not assoc w R |
| amikacin | Not assoc w R | |||||
| kanamycin | Uncertain significance | |||||
| Rv0565c | 657081 | c.390G>A | synonymous_variant | 0.45 | ethionamide | Not assoc w R - Interim |
| Rv0565c | 657142 | p.Arg110His | missense_variant | 0.45 | ethionamide | Uncertain significance |
| rpoB | 763031 | c.3225T>C | synonymous_variant | 0.23 | rifampicin | Not assoc w R |
| rpoC | 764822 | p.Asp485Tyr | missense_variant | 0.23 | rifampicin | Uncertain significance |
| mmpL5 | 775592 | c.2889G>A | synonymous_variant | 0.21 | clofazimine | Not assoc w R - Interim |
| bedaquiline | Not assoc w R - Interim | |||||
| mmpL5 | 775639 | p.Ile948Val | missense_variant | 1.0 | clofazimine | Not assoc w R |
| bedaquiline | Not assoc w R - Interim | |||||
| mmpL5 | 776100 | p.Thr794Ile | missense_variant | 0.28 | clofazimine | Not assoc w R |
| bedaquiline | Not assoc w R - Interim | |||||
| mmpL5 | 776182 | p.Asp767Asn | missense_variant | 0.3 | clofazimine | Not assoc w R |
| bedaquiline | Not assoc w R | |||||
| mmpS5 | 779615 | c.-710C>G | upstream_gene_variant | 0.24 | clofazimine | |
| bedaquiline | ||||||
| rpsL | 781395 | c.-165T>C | upstream_gene_variant | 1.0 | streptomycin | Not assoc w R |
| Rv1129c | 1254562 | c.-28T>C | upstream_gene_variant | 0.19 | moxifloxacin | Not assoc w R |
| levofloxacin | Not assoc w R | |||||
| rifampicin | Not assoc w R | |||||
| isoniazid | Not assoc w R | |||||
| Rv1258c | 1406760 | c.580_581insC | frameshift_variant | 0.36 | streptomycin | Uncertain significance |
| isoniazid | Uncertain significance | |||||
| pyrazinamide | Uncertain significance | |||||
| rrs | 1471659 | n.-187C>T | upstream_gene_variant | 1.0 | streptomycin | |
| kanamycin | ||||||
| capreomycin | ||||||
| amikacin | ||||||
| rrl | 1474001 | n.344C>T | non_coding_transcript_exon_variant | 0.64 | capreomycin | Not assoc w R |
| linezolid | Not assoc w R | |||||
| rpsA | 1833288 | c.-254T>C | upstream_gene_variant | 0.75 | pyrazinamide | |
| rpsA | 1834177 | c.636A>C | synonymous_variant | 0.24 | pyrazinamide | Not assoc w R - Interim |
| tsnR | 1854300 | p.Leu232Pro | missense_variant | 0.17 | linezolid | Not assoc w R |
| tlyA | 1917972 | c.33A>G | synonymous_variant | 1.0 | capreomycin | Not assoc w R |
| katG | 2154724 | p.Arg463Leu | missense_variant | 0.31 | isoniazid | Not assoc w R |
| PPE35 | 2167926 | p.Leu896Ser | missense_variant | 0.26 | pyrazinamide | Not assoc w R |
| PPE35 | 2168149 | p.Pro822Ser | missense_variant | 0.68 | pyrazinamide | Not assoc w R |
| PPE35 | 2170892 | c.-280G>A | upstream_gene_variant | 0.65 | pyrazinamide | |
| Rv1979c | 2223293 | c.-129A>G | upstream_gene_variant | 1.0 | clofazimine | Not assoc w R |
| bedaquiline | Not assoc w R - Interim | |||||
| Rv2680 | 2995848 | c.-257G>A | upstream_gene_variant | 0.72 | capreomycin | |
| ald | 3086788 | c.-32T>C | upstream_gene_variant | 0.32 | cycloserine | |
| fbiD | 3339040 | c.-78T>C | upstream_gene_variant | 0.59 | clofazimine | |
| pretomanid | ||||||
| delamanid | ||||||
| Rv3083 | 3449315 | p.Trp271* | stop_gained | 1.0 | ethionamide | Uncertain significance |
| Rv3236c | 3612813 | p.Thr102Ala | missense_variant | 0.35 | pyrazinamide | Not assoc w R - Interim |
| mtrB | 3625065 | p.Met517Leu | missense_variant | 0.34 | bedaquiline | Uncertain significance |
| rifampicin | Not assoc w R | |||||
| mtrB | 3626562 | p.Pro18Ser | missense_variant | 0.18 | bedaquiline | Uncertain significance |
| rifampicin | Not assoc w R | |||||
| fbiB | 3642874 | p.Leu447Arg | missense_variant | 0.74 | clofazimine | Uncertain significance |
| pretomanid | ||||||
| delamanid | Uncertain significance | |||||
| embC | 4242643 | c.2781C>T | synonymous_variant | 1.0 | ethambutol | Not assoc w R |
| embA | 4243460 | c.228C>T | synonymous_variant | 0.25 | ethambutol | Not assoc w R |
| embB | 4247717 | p.Leu402Val | missense_variant | 0.37 | ethambutol | Uncertain significance |
| aftB | 4267647 | p.Asp397Gly | missense_variant | 0.14 | ethambutol | Not assoc w R |
| whiB6 | 4338365 | p.Cys53Arg | missense_variant | 0.21 | capreomycin | Uncertain significance |
| amikacin | Uncertain significance | |||||
| kanamycin | Uncertain significance | |||||
| 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 | 0.21 | capreomycin | |
| amikacin | ||||||
| kanamycin | ||||||
| gid | 4407588 | c.615A>G | synonymous_variant | 0.31 | streptomycin | Not assoc w R |
| gid | 4407927 | p.Glu92Asp | missense_variant | 0.37 | streptomycin | Not assoc w R |