Run ID: SRR5153855
Sample name:
Date: 2024-04-15T05:43:18.771979
Number of reads: 8438657
Percentage reads mapped: 99.44
Median coverage: 163.0
Strain: lineage2.2.1;lineage4.2.1
Spoligotype:
Drug-resistance: Pre-XDR-TB
Lineage | Family | RDs | Frequency |
---|---|---|---|
lineage2 | East-Asian | RD105 | 0.56 |
lineage4.2 | Euro-American | None | 0.47 |
lineage2.2.1 | East-Asian (Beijing) | RD105;RD207;RD181 | 0.52 |
lineage2.2 | East-Asian (Beijing) | RD105;RD207 | 0.57 |
lineage4 | Euro-American | None | 0.46 |
lineage4.2.1 | Euro-American (TUR) | None | 0.45 |
Drug | Resistance | Supporting mutations | WHO confidence | Comment |
---|---|---|---|---|
rifampicin | rpoB | p.Ser450Leu | Assoc w R | |
isoniazid | inhA | c.-154G>A | Assoc w R | Alias fabG1_p.Leu203Leu. 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 | embA | c.-16C>T | Uncertain significance | Mutation from literature |
embB | p.Ser297Ala | Uncertain significance | Mutation from literature | |
p.Met306Val | Assoc w R | |||
p.Gly406Ala | Assoc w R | |||
p.Asp1024Asn | Uncertain significance | Mutation from literature | ||
pyrazinamide | pncA | p.Gln10Pro | Assoc w R | |
streptomycin | rpsL | p.Lys43Arg | Assoc w R | |
p.Lys88Arg | Assoc w R | |||
fluoroquinolones | ||||
moxifloxacin | gyrA | p.Asp94Gly | Assoc w R | High-level resistance |
ofloxacin | ||||
levofloxacin | gyrA | p.Asp94Gly | Assoc w R | |
ciprofloxacin | ||||
aminoglycosides | ||||
amikacin | ||||
capreomycin | ||||
kanamycin | eis | c.-12C>T | Assoc w R | |
cycloserine | ||||
ethionamide | inhA | c.-154G>A | Assoc w R - Interim | Alias fabG1_p.Leu203Leu |
clofazimine | ||||
para-aminosalicylic_acid | ||||
delamanid | ||||
bedaquiline | ||||
linezolid |
Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence | Comment |
---|---|---|---|---|---|---|---|
gyrA | 7582 | p.Asp94Gly | missense_variant | 0.52 | moxifloxacin | Assoc w R | High-level resistance |
levofloxacin | Assoc w R | ||||||
rpoB | 761155 | p.Ser450Leu | missense_variant | 0.99 | rifampicin | Assoc w R | |
rpsL | 781687 | p.Lys43Arg | missense_variant | 0.57 | streptomycin | Assoc w R | |
rpsL | 781822 | p.Lys88Arg | missense_variant | 0.46 | streptomycin | Assoc w R | |
inhA | 1674048 | c.-154G>A | upstream_gene_variant | 0.37 | ethionamide | Assoc w R - Interim | Alias fabG1_p.Leu203Leu |
isoniazid | Assoc w R | Alias fabG1_p.Leu203Leu. 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 |
pncA | 2289213 | p.Gln10Pro | missense_variant | 0.29 | pyrazinamide | Assoc w R | |
eis | 2715344 | c.-12C>T | upstream_gene_variant | 0.13 | kanamycin | Assoc w R | |
embA | 4243217 | c.-16C>T | upstream_gene_variant | 0.16 | ethambutol | Uncertain significance | Mutation from literature |
embB | 4247402 | p.Ser297Ala | missense_variant | 0.14 | ethambutol | Uncertain significance | Mutation from literature |
embB | 4247429 | p.Met306Val | missense_variant | 0.51 | ethambutol | Assoc w R | |
embB | 4247730 | p.Gly406Ala | missense_variant | 0.37 | ethambutol | Assoc w R | |
embB | 4249583 | p.Asp1024Asn | missense_variant | 0.39 | 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 | 0.46 | clofazimine | Not assoc w R - Interim |
pretomanid | ||||||
delamanid | Not assoc w R - Interim | |||||
fgd1 | 491742 | c.960T>C | synonymous_variant | 0.54 | clofazimine | Not assoc w R |
pretomanid | ||||||
delamanid | Not assoc w R - Interim | |||||
mshA | 575907 | p.Ala187Val | missense_variant | 0.62 | ethionamide | Not assoc w R |
isoniazid | Not assoc w R | |||||
ccsA | 619969 | p.Val27Ile | missense_variant | 0.49 | capreomycin | Not assoc w R - Interim |
amikacin | Not assoc w R | |||||
kanamycin | Uncertain significance | |||||
ccsA | 620625 | p.Ile245Met | missense_variant | 0.51 | capreomycin | Not assoc w R |
amikacin | Not assoc w R | |||||
kanamycin | Uncertain significance | |||||
Rv0565c | 657081 | c.390G>A | synonymous_variant | 0.59 | ethionamide | Not assoc w R - Interim |
Rv0565c | 657142 | p.Arg110His | missense_variant | 0.6 | ethionamide | Uncertain significance |
rpoB | 761528 | p.Asp574Glu | missense_variant | 0.59 | rifampicin | Uncertain significance |
rpoB | 763031 | c.3225T>C | synonymous_variant | 0.59 | rifampicin | Not assoc w R |
rpoC | 764888 | p.Leu507Val | missense_variant | 0.3 | rifampicin | Uncertain significance |
rpoC | 766645 | p.Glu1092Asp | missense_variant | 0.53 | rifampicin | Not assoc w R |
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 | 0.5 | clofazimine | Not assoc w R |
bedaquiline | Not assoc w R - Interim | |||||
mmpL5 | 776182 | p.Asp767Asn | missense_variant | 0.55 | clofazimine | Not assoc w R |
bedaquiline | Not assoc w R | |||||
mmpS5 | 779615 | c.-710C>G | upstream_gene_variant | 0.59 | clofazimine | |
bedaquiline | ||||||
rpsL | 781395 | c.-165T>C | upstream_gene_variant | 1.0 | streptomycin | Not assoc w R |
rplC | 800204 | c.-605T>C | upstream_gene_variant | 0.47 | linezolid | |
Rv1129c | 1254562 | c.-28T>C | upstream_gene_variant | 0.53 | moxifloxacin | Not assoc w R |
levofloxacin | Not assoc w R | |||||
rifampicin | Not assoc w R | |||||
isoniazid | Not assoc w R | |||||
fbiC | 1304253 | c.1323G>T | synonymous_variant | 0.34 | clofazimine | Not assoc w R - Interim |
pretomanid | ||||||
delamanid | Not assoc w R - Interim | |||||
sigE | 1364706 | c.294G>A | synonymous_variant | 0.55 | pyrazinamide | Not assoc w R - Interim |
Rv1258c | 1406760 | c.580_581insC | frameshift_variant | 0.58 | streptomycin | Uncertain significance |
isoniazid | Uncertain significance | |||||
pyrazinamide | Uncertain significance | |||||
rrs | 1471659 | n.-187C>T | upstream_gene_variant | 1.0 | streptomycin | |
kanamycin | ||||||
capreomycin | ||||||
amikacin | ||||||
rpsA | 1834177 | c.636A>C | synonymous_variant | 0.47 | pyrazinamide | Not assoc w R - Interim |
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 | 0.52 | 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 | 0.51 | streptomycin | Uncertain significance |
kanamycin | Uncertain significance | |||||
capreomycin | Not assoc w R | |||||
amikacin | Not assoc w R | |||||
katG | 2154724 | p.Arg463Leu | missense_variant | 0.56 | isoniazid | Not assoc w R |
PPE35 | 2167926 | p.Leu896Ser | missense_variant | 0.58 | pyrazinamide | Not assoc w R |
PPE35 | 2169879 | p.Phe245Cys | missense_variant | 0.43 | pyrazinamide | Uncertain significance |
Rv1979c | 2223293 | c.-129A>G | upstream_gene_variant | 0.99 | clofazimine | Not assoc w R |
bedaquiline | Not assoc w R - Interim | |||||
ribD | 2986827 | c.-12G>A | upstream_gene_variant | 0.38 | para-aminosalicylic_acid | |
Rv2752c | 3064700 | p.Ser498Pro | missense_variant | 0.58 | ethambutol | Uncertain significance |
moxifloxacin | Uncertain significance | |||||
levofloxacin | Uncertain significance | |||||
rifampicin | Uncertain significance | |||||
isoniazid | Uncertain significance | |||||
ald | 3086742 | c.-78A>C | upstream_gene_variant | 0.42 | cycloserine | |
ald | 3086788 | c.-32T>C | upstream_gene_variant | 1.0 | cycloserine | |
Rv3236c | 3612813 | p.Thr102Ala | missense_variant | 0.53 | pyrazinamide | Not assoc w R - Interim |
lpqB | 3623222 | c.1689A>G | synonymous_variant | 0.46 | 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 | |||||
mtrB | 3626562 | p.Pro18Ser | missense_variant | 0.46 | bedaquiline | Uncertain significance |
rifampicin | Not assoc w R | |||||
embC | 4242643 | c.2781C>T | synonymous_variant | 0.99 | ethambutol | Not assoc w R |
embA | 4243460 | c.228C>T | synonymous_variant | 0.57 | ethambutol | Not assoc w R |
embB | 4249594 | c.3081G>A | synonymous_variant | 0.5 | ethambutol | Not assoc w R - Interim |
aftB | 4267647 | p.Asp397Gly | missense_variant | 0.51 | ethambutol | Not assoc w R |
ethA | 4326632 | p.His281Pro | missense_variant | 0.14 | ethionamide | Uncertain significance |
ethA | 4328376 | c.-903G>C | upstream_gene_variant | 0.38 | ethionamide | |
whiB6 | 4338298 | p.Leu75Gln | missense_variant | 0.61 | capreomycin | Uncertain significance |
amikacin | Uncertain significance | |||||
kanamycin | Uncertain significance | |||||
whiB6 | 4338563 | c.-42G>T | upstream_gene_variant | 0.66 | capreomycin | Not assoc w R |
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 | 1.0 | capreomycin | |
amikacin | ||||||
kanamycin | ||||||
gid | 4407588 | c.615A>G | synonymous_variant | 0.53 | streptomycin | Not assoc w R |
gid | 4407927 | p.Glu92Asp | missense_variant | 0.53 | streptomycin | Not assoc w R |