Run ID: SRR22175187
Sample name:
Date: 2024-10-05T05:05:50.440547
Number of reads: 7625207
Percentage reads mapped: 99.32
Median coverage: 232.0
Strain: lineage1.1.2;lineage2.2.1
Spoligotype:
Drug-resistance: XDR-TB
Lineage | Family | RDs | Frequency |
---|---|---|---|
lineage1.1.2 | Indo-Oceanic | RD239 | 0.4 |
lineage2 | East-Asian | RD105 | 0.59 |
lineage1.1 | Indo-Oceanic | RD239 | 0.42 |
lineage2.2.1 | East-Asian (Beijing) | RD105;RD207;RD181 | 0.59 |
lineage2.2 | East-Asian (Beijing) | RD105;RD207 | 0.58 |
lineage1 | Indo-Oceanic | RD239 | 0.4 |
Drug | Resistance | Supporting mutations | WHO confidence | Comment |
---|---|---|---|---|
rifampicin | rpoB | p.Ser450Leu | Assoc w R | |
rpoC | p.Ile491Thr | Uncertain significance | Mutation from literature | |
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) |
c.-770T>A | Assoc w R - Interim | Alias fabG1_c.-8T>A. 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 |
pyrazinamide | pncA | p.Ile5Ser | Assoc w R | |
streptomycin | rpsL | p.Lys43Arg | Assoc w R | |
fluoroquinolones | ||||
moxifloxacin | gyrA | p.Ala90Val | Assoc w R | Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) |
p.Asp94Gly | Assoc w R | High-level resistance | ||
ofloxacin | ||||
levofloxacin | gyrA | p.Ala90Val | Assoc w R | |
p.Asp94Gly | Assoc w R | |||
ciprofloxacin | ||||
aminoglycosides | ||||
amikacin | ||||
capreomycin | ||||
kanamycin | eis | c.-12C>T | Assoc w R | |
cycloserine | alr | p.Met343Thr | Mutation from literature | |
ethionamide | inhA | c.-777C>T | Assoc w R | Alias fabG1_c.-15C>T |
c.-770T>A | Assoc w R - Interim | Alias fabG1_c.-8T>A | ||
clofazimine | mmpR5 | c.198dupG | Assoc w R | Can only confer resistance if genetically linked to a functional MmpL5 |
para-aminosalicylic_acid | thyA | p.Thr22Ala | Mutation from literature | |
delamanid | ||||
bedaquiline | mmpR5 | c.198dupG | Assoc w R | Can only confer resistance if genetically linked to a functional MmpL5 |
linezolid |
Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence | Comment |
---|---|---|---|---|---|---|---|
gyrA | 7570 | p.Ala90Val | missense_variant | 0.62 | levofloxacin | Assoc w R | |
moxifloxacin | Assoc w R | Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) | |||||
gyrA | 7582 | p.Asp94Gly | missense_variant | 0.61 | levofloxacin | Assoc w R | |
moxifloxacin | Assoc w R | High-level resistance | |||||
rpoB | 761155 | p.Ser450Leu | missense_variant | 0.6 | rifampicin | Assoc w R | |
rpoC | 764841 | p.Ile491Thr | missense_variant | 0.54 | rifampicin | Uncertain significance | Mutation from literature |
mmpR5 | 779181 | c.198dupG | frameshift_variant | 0.65 | bedaquiline | Assoc w R | Can only confer resistance if genetically linked to a functional MmpL5 |
clofazimine | Assoc w R | Can only confer resistance if genetically linked to a functional MmpL5 | |||||
rpsL | 781687 | p.Lys43Arg | missense_variant | 0.6 | streptomycin | Assoc w R | |
inhA | 1673425 | c.-777C>T | upstream_gene_variant | 0.38 | 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) | |||||
inhA | 1673432 | c.-770T>A | upstream_gene_variant | 0.61 | ethionamide | Assoc w R - Interim | Alias fabG1_c.-8T>A |
isoniazid | Assoc w R - Interim | Alias fabG1_c.-8T>A. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) | |||||
katG | 2155168 | p.Ser315Thr | missense_variant | 0.54 | isoniazid | Assoc w R | High-level resistance |
pncA | 2289228 | p.Ile5Ser | missense_variant | 0.58 | pyrazinamide | Assoc w R | |
eis | 2715344 | c.-12C>T | upstream_gene_variant | 0.62 | kanamycin | Assoc w R | |
thyA | 3074408 | p.Thr22Ala | missense_variant | 0.6 | para-aminosalicylic_acid | Mutation from literature | |
alr | 3840393 | p.Met343Thr | missense_variant | 0.52 | cycloserine | Mutation from literature | |
embA | 4243217 | c.-16C>T | upstream_gene_variant | 0.58 | ethambutol | Uncertain significance | Mutation from literature |
Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence |
---|---|---|---|---|---|---|
gyrB | 6112 | p.Met291Ile | missense_variant | 0.5 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
gyrB | 6124 | c.885C>T | synonymous_variant | 0.49 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
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 | 8452 | p.Ala384Val | missense_variant | 0.49 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
gyrA | 9047 | c.1746C>T | synonymous_variant | 0.51 | levofloxacin | Not assoc w R - Interim |
moxifloxacin | Not assoc w R | |||||
gyrA | 9143 | c.1842T>C | synonymous_variant | 0.48 | 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 | |||||
gyrA | 9443 | c.2142G>A | synonymous_variant | 0.41 | levofloxacin | Not assoc w R - Interim |
moxifloxacin | Not assoc w R | |||||
Rv0010c | 13298 | p.Ile87Met | missense_variant | 0.47 | isoniazid | Not assoc w R |
Rv0010c | 13460 | c.99T>C | synonymous_variant | 0.43 | isoniazid | Not assoc w R |
fgd1 | 491290 | p.Val170Met | missense_variant | 0.58 | pretomanid | |
delamanid | Uncertain significance | |||||
clofazimine | Not assoc w R | |||||
fgd1 | 491742 | c.960T>C | synonymous_variant | 1.0 | pretomanid | |
delamanid | Not assoc w R - Interim | |||||
clofazimine | Not assoc w R | |||||
mshA | 575907 | p.Ala187Val | missense_variant | 0.68 | isoniazid | Not assoc w R |
ethionamide | Not assoc w R | |||||
mshA | 576000 | p.Asp218Ala | missense_variant | 0.36 | isoniazid | Not assoc w R - Interim |
ethionamide | Uncertain significance | |||||
ccsA | 620625 | p.Ile245Met | missense_variant | 0.63 | kanamycin | Uncertain significance |
capreomycin | Not assoc w R | |||||
amikacin | Not assoc w R | |||||
Rv0565c | 657081 | c.390G>A | synonymous_variant | 0.53 | ethionamide | Not assoc w R - Interim |
Rv0565c | 657142 | p.Arg110His | missense_variant | 0.54 | ethionamide | Uncertain significance |
Rv0565c | 657578 | c.-108T>C | upstream_gene_variant | 0.42 | ethionamide | |
nusG | 734116 | c.-138T>C | upstream_gene_variant | 0.47 | rifampicin | Not assoc w R |
rpoB | 759546 | c.-261A>G | upstream_gene_variant | 0.47 | rifampicin | Not assoc w R |
rpoB | 760490 | c.684C>T | synonymous_variant | 0.47 | rifampicin | Not assoc w R |
rpoB | 763031 | c.3225T>C | synonymous_variant | 1.0 | rifampicin | Not assoc w R |
rpoC | 763884 | p.Ala172Val | missense_variant | 0.37 | rifampicin | Not assoc w R |
rpoC | 763886 | c.517C>A | synonymous_variant | 0.37 | rifampicin | Not assoc w R |
rpoC | 765171 | p.Pro601Leu | missense_variant | 0.38 | rifampicin | Not assoc w R |
mmpL5 | 775639 | p.Ile948Val | missense_variant | 1.0 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R | |||||
mmpL5 | 775979 | c.2502G>A | synonymous_variant | 0.39 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R - Interim | |||||
mmpL5 | 776100 | p.Thr794Ile | missense_variant | 1.0 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R | |||||
mmpL5 | 776182 | p.Asp767Asn | missense_variant | 0.5 | bedaquiline | Not assoc w R |
clofazimine | Not assoc w R | |||||
mmpL5 | 776395 | p.Phe696Leu | missense_variant | 0.47 | bedaquiline | Uncertain significance |
clofazimine | Not assoc w R | |||||
mmpS5 | 779615 | c.-710C>G | upstream_gene_variant | 0.7 | bedaquiline | |
clofazimine | ||||||
rpsL | 781395 | c.-165T>C | upstream_gene_variant | 1.0 | streptomycin | Not assoc w R |
rplC | 800357 | c.-452C>A | upstream_gene_variant | 0.42 | linezolid | Not assoc w R |
Rv1129c | 1254562 | c.-28T>C | upstream_gene_variant | 0.99 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
isoniazid | Not assoc w R | |||||
rifampicin | Not assoc w R | |||||
Rv1258c | 1406760 | c.580_581insC | frameshift_variant | 0.66 | streptomycin | Uncertain significance |
pyrazinamide | Uncertain significance | |||||
isoniazid | Uncertain significance | |||||
embR | 1417019 | p.Cys110Tyr | missense_variant | 0.35 | ethambutol | Not assoc w R |
embR | 1417554 | c.-207C>G | upstream_gene_variant | 0.39 | ethambutol | |
embR | 1417793 | c.-446C>T | upstream_gene_variant | 0.37 | ethambutol | |
rrs | 1471659 | n.-187C>T | upstream_gene_variant | 0.99 | kanamycin | |
capreomycin | ||||||
streptomycin | ||||||
amikacin | ||||||
rrl | 1473615 | n.-43G>C | upstream_gene_variant | 0.55 | capreomycin | Uncertain significance |
linezolid | Uncertain significance | |||||
rpsA | 1834177 | c.636A>C | synonymous_variant | 0.62 | pyrazinamide | Not assoc w R - Interim |
tsnR | 1853974 | c.369C>T | synonymous_variant | 0.33 | linezolid | Not assoc w R |
tsnR | 1854045 | p.Tyr147Cys | missense_variant | 0.35 | linezolid | Not assoc w R |
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 | 2062922 | p.Ile603Val | missense_variant | 0.37 | kanamycin | Not assoc w R |
capreomycin | Not assoc w R | |||||
streptomycin | Not assoc w R | |||||
amikacin | Not assoc w R | |||||
katG | 2154724 | p.Arg463Leu | missense_variant | 1.0 | isoniazid | Not assoc w R |
PPE35 | 2167926 | p.Leu896Ser | missense_variant | 1.0 | pyrazinamide | Not assoc w R |
PPE35 | 2167983 | p.Gly877Asp | missense_variant | 0.43 | pyrazinamide | Uncertain significance |
PPE35 | 2169369 | p.Gly415Ala | missense_variant | 0.38 | pyrazinamide | Uncertain significance |
Rv1979c | 2222308 | p.Asp286Gly | missense_variant | 0.41 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R | |||||
Rv1979c | 2223293 | c.-129A>G | upstream_gene_variant | 1.0 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R | |||||
kasA | 2518132 | c.18C>T | synonymous_variant | 0.35 | isoniazid | |
ahpC | 2726051 | c.-142G>A | upstream_gene_variant | 0.45 | isoniazid | |
Rv2681 | 2996912 | c.174C>T | synonymous_variant | 0.46 | capreomycin | Not assoc w R |
Rv2752c | 3064632 | c.1560C>T | synonymous_variant | 0.39 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
isoniazid | Not assoc w R | |||||
rifampicin | Not assoc w R | |||||
ethambutol | Not assoc w R | |||||
thyX | 3067949 | c.-4C>T | upstream_gene_variant | 0.6 | para-aminosalicylic_acid | |
ald | 3086788 | c.-32T>C | upstream_gene_variant | 1.0 | cycloserine | |
Rv3083 | 3448714 | p.Asp71His | missense_variant | 0.36 | ethionamide | Uncertain significance |
Rv3236c | 3612813 | p.Thr102Ala | missense_variant | 0.6 | pyrazinamide | Not assoc w R - Interim |
lpqB | 3624486 | p.Asp142Gly | missense_variant | 0.43 | rifampicin | Not assoc w R |
bedaquiline | Uncertain significance | |||||
mtrB | 3625065 | p.Met517Leu | missense_variant | 0.99 | rifampicin | Not assoc w R |
bedaquiline | Uncertain significance | |||||
mtrB | 3626467 | c.147G>A | synonymous_variant | 0.47 | rifampicin | Not assoc w R |
bedaquiline | Not assoc w R - Interim | |||||
mtrB | 3626562 | p.Pro18Ser | missense_variant | 0.53 | rifampicin | Not assoc w R |
bedaquiline | Uncertain significance | |||||
clpC1 | 4040517 | p.Val63Ala | missense_variant | 0.57 | pyrazinamide | Not assoc w R - Interim |
panD | 4044740 | c.-459C>T | upstream_gene_variant | 0.4 | pyrazinamide | |
glpK | 4138377 | p.Val460Ala | missense_variant | 0.4 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
isoniazid | Not assoc w R | |||||
streptomycin | Not assoc w R | |||||
rifampicin | Not assoc w R | |||||
ethambutol | Not assoc w R | |||||
embC | 4240671 | p.Thr270Ile | missense_variant | 0.47 | ethambutol | Not assoc w R |
embC | 4241022 | p.Ala387Val | missense_variant | 0.57 | ethambutol | Uncertain significance |
embC | 4241042 | p.Asn394Asp | missense_variant | 0.42 | ethambutol | Not assoc w R |
embC | 4242643 | c.2781C>T | synonymous_variant | 1.0 | ethambutol | Not assoc w R |
embA | 4243460 | c.228C>T | synonymous_variant | 0.61 | ethambutol | Not assoc w R |
embA | 4243848 | p.Val206Met | missense_variant | 0.35 | ethambutol | Not assoc w R |
embA | 4243875 | c.643C>T | synonymous_variant | 0.34 | ethambutol | Not assoc w R - Interim |
embA | 4245969 | p.Pro913Ser | missense_variant | 0.39 | ethambutol | Not assoc w R |
embB | 4247646 | p.Glu378Ala | missense_variant | 0.4 | ethambutol | Not assoc w R |
embB | 4247847 | p.Gln445Arg | missense_variant | 0.61 | ethambutol | Uncertain significance |
aftB | 4267647 | p.Asp397Gly | missense_variant | 0.56 | ethambutol | Not assoc w R |
ubiA | 4269387 | p.Glu149Asp | missense_variant | 0.42 | ethambutol | Not assoc w R |
ubiA | 4269606 | c.228T>C | synonymous_variant | 0.49 | ethambutol | Not assoc w R |
ethA | 4327344 | p.Thr44Pro | missense_variant | 0.54 | ethionamide | Uncertain significance |
whiB6 | 4338292 | p.Ala77Val | missense_variant | 0.48 | kanamycin | Uncertain significance |
capreomycin | Uncertain significance | |||||
amikacin | Uncertain significance | |||||
whiB6 | 4338595 | c.-75delG | upstream_gene_variant | 1.0 | kanamycin | Not assoc w R |
capreomycin | Not assoc w R | |||||
amikacin | Not assoc w R | |||||
whiB6 | 4338603 | c.-82C>T | upstream_gene_variant | 0.4 | kanamycin | Not assoc w R |
capreomycin | Not assoc w R | |||||
amikacin | Not assoc w R | |||||
whiB6 | 4338732 | c.-211C>T | upstream_gene_variant | 1.0 | kanamycin | |
capreomycin | ||||||
amikacin | ||||||
gid | 4407588 | c.615A>G | synonymous_variant | 1.0 | streptomycin | Not assoc w R |
gid | 4407620 | p.Tyr195His | missense_variant | 0.61 | streptomycin | Not assoc w R |
gid | 4407873 | c.330G>T | synonymous_variant | 0.39 | streptomycin | Not assoc w R |
gid | 4407927 | p.Glu92Asp | missense_variant | 0.6 | streptomycin | Not assoc w R |