Run ID: SRR6356993
Sample name:
Date: 2024-04-16T08:39:56.999362
Number of reads: 2321262
Percentage reads mapped: 99.53
Median coverage: 73.0
Strain: lineage4.1.2.1;lineage4.2.1
Spoligotype:
Drug-resistance: Pre-XDR-TB
Lineage | Family | RDs | Frequency |
---|---|---|---|
lineage4.1 | Euro-American | None | 0.46 |
lineage4.1.2 | Euro-American | None | 0.47 |
lineage4.2 | Euro-American | None | 0.51 |
lineage4.1.2.1 | Euro-American (Haarlem) | RD182 | 0.47 |
lineage4 | Euro-American | None | 1.0 |
lineage4.2.1 | Euro-American (TUR) | None | 0.5 |
Drug | Resistance | Supporting mutations | WHO confidence | Comment |
---|---|---|---|---|
rifampicin | rpoB | p.Ala286Val | Uncertain significance | Mutation from literature |
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 | |
c.22dupA | Assoc w R | High-level resistance | ||
ethambutol | embB | p.Gly406Cys | Assoc w R | |
pyrazinamide | pncA | p.Ala146Thr | Assoc w R | |
streptomycin | rpsL | p.Lys88Arg | Assoc w R | |
fluoroquinolones | ||||
moxifloxacin | gyrB | p.Thr500Asn | Uncertain significance | Mutation from literature |
gyrA | p.Asp94Gly | Assoc w R | High-level resistance | |
ofloxacin | ||||
levofloxacin | gyrB | p.Thr500Asn | Uncertain significance | Mutation from literature |
gyrA | p.Asp94Gly | Assoc w R | ||
ciprofloxacin | ||||
aminoglycosides | ||||
amikacin | rrs | n.1401A>G | Assoc w R | |
capreomycin | rrs | n.1401A>G | Assoc w R | |
kanamycin | rrs | n.1401A>G | Assoc w R | |
cycloserine | ||||
ethionamide | inhA | c.-777C>T | Assoc w R | Alias fabG1_c.-15C>T |
ethA | c.1261_1262dupCG | Assoc w R | ||
clofazimine | ||||
para-aminosalicylic_acid | ||||
delamanid | ||||
bedaquiline | ||||
linezolid |
Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence | Comment |
---|---|---|---|---|---|---|---|
gyrB | 6738 | p.Thr500Asn | missense_variant | 0.16 | levofloxacin | Uncertain significance | Mutation from literature |
moxifloxacin | Uncertain significance | Mutation from literature | |||||
gyrA | 7582 | p.Asp94Gly | missense_variant | 0.17 | levofloxacin | Assoc w R | |
moxifloxacin | Assoc w R | High-level resistance | |||||
rpoB | 760663 | p.Ala286Val | missense_variant | 0.48 | rifampicin | Uncertain significance | Mutation from literature |
rpoB | 761155 | p.Ser450Leu | missense_variant | 0.58 | rifampicin | Assoc w R | |
rpsL | 781822 | p.Lys88Arg | missense_variant | 0.47 | streptomycin | Assoc w R | |
rrs | 1473246 | n.1401A>G | non_coding_transcript_exon_variant | 0.89 | kanamycin | Assoc w R | |
amikacin | Assoc w R | ||||||
capreomycin | Assoc w R | ||||||
inhA | 1673425 | c.-777C>T | upstream_gene_variant | 0.41 | 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) |
ethionamide | Assoc w R | Alias fabG1_c.-15C>T | |||||
katG | 2155168 | p.Ser315Thr | missense_variant | 0.52 | isoniazid | Assoc w R | High-level resistance |
katG | 2156089 | c.22dupA | frameshift_variant | 0.46 | isoniazid | Assoc w R | High-level resistance |
pncA | 2288806 | p.Ala146Thr | missense_variant | 0.56 | pyrazinamide | Assoc w R | |
embB | 4247729 | p.Gly406Cys | missense_variant | 0.49 | ethambutol | Assoc w R | |
ethA | 4326211 | c.1261_1262dupCG | frameshift_variant | 0.16 | ethionamide | Assoc w R |
Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence |
---|---|---|---|---|---|---|
dnaA | 1399 | p.Gly467Arg | missense_variant | 0.32 | isoniazid | Uncertain significance |
dnaA | 1422 | p.Met474Ile | missense_variant | 0.19 | isoniazid | Uncertain significance |
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 | 0.37 | clofazimine | Not assoc w R - Interim |
pretomanid | ||||||
delamanid | Not assoc w R - Interim | |||||
fgd1 | 491591 | p.Lys270Met | missense_variant | 0.47 | clofazimine | Not assoc w R |
pretomanid | ||||||
delamanid | Uncertain significance | |||||
mshA | 575679 | p.Asn111Ser | missense_variant | 0.44 | ethionamide | Not assoc w R |
isoniazid | Not assoc w R | |||||
ccsA | 619969 | p.Val27Ile | missense_variant | 0.48 | capreomycin | Not assoc w R - Interim |
amikacin | Not assoc w R | |||||
kanamycin | Uncertain significance | |||||
Rv0565c | 657269 | p.Ser68Pro | missense_variant | 0.43 | ethionamide | Uncertain significance |
rpoB | 760106 | c.300G>A | synonymous_variant | 0.4 | rifampicin | Not assoc w R |
rpoB | 760115 | c.309C>T | synonymous_variant | 0.39 | rifampicin | Not assoc w R |
rpoC | 765150 | p.Gly594Glu | missense_variant | 0.6 | rifampicin | Not assoc w R |
mmpL5 | 775639 | p.Ile948Val | missense_variant | 1.0 | clofazimine | Not assoc w R |
bedaquiline | Not assoc w R - Interim | |||||
rpsL | 781276 | c.-284A>C | upstream_gene_variant | 0.42 | streptomycin | |
rpsL | 781395 | c.-165T>C | upstream_gene_variant | 1.0 | streptomycin | Not assoc w R |
rplC | 800204 | c.-605T>C | upstream_gene_variant | 0.43 | linezolid | |
Rv1129c | 1254583 | c.-49A>C | upstream_gene_variant | 0.46 | moxifloxacin | Uncertain significance |
levofloxacin | Uncertain significance | |||||
rifampicin | Not assoc w R | |||||
isoniazid | Not assoc w R | |||||
Rv1258c | 1406584 | p.Asp253Tyr | missense_variant | 0.46 | streptomycin | |
isoniazid | ||||||
pyrazinamide | ||||||
rrs | 1471659 | n.-187C>T | upstream_gene_variant | 1.0 | streptomycin | |
kanamycin | ||||||
capreomycin | ||||||
amikacin | ||||||
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 | 0.58 | 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 | 0.56 | streptomycin | Uncertain significance |
kanamycin | Uncertain significance | |||||
capreomycin | Not assoc w R | |||||
amikacin | Not assoc w R | |||||
katG | 2156484 | c.-373A>C | upstream_gene_variant | 0.36 | isoniazid | Uncertain significance |
katG | 2156565 | c.-455dupA | upstream_gene_variant | 0.12 | isoniazid | |
PPE35 | 2169879 | p.Phe245Cys | missense_variant | 0.46 | pyrazinamide | Uncertain significance |
Rv1979c | 2223293 | c.-129A>G | upstream_gene_variant | 1.0 | clofazimine | Not assoc w R |
bedaquiline | Not assoc w R - Interim | |||||
kasA | 2518076 | c.-39C>T | upstream_gene_variant | 0.42 | isoniazid | |
eis | 2715340 | c.-8C>T | upstream_gene_variant | 0.4 | amikacin | Uncertain significance |
kanamycin | Uncertain significance | |||||
ribD | 2986827 | c.-12G>A | upstream_gene_variant | 0.43 | para-aminosalicylic_acid | |
Rv2680 | 2996085 | c.-20G>A | upstream_gene_variant | 0.19 | capreomycin | Uncertain significance |
ald | 3086742 | c.-78A>C | upstream_gene_variant | 0.53 | cycloserine | |
ald | 3086788 | c.-32T>C | upstream_gene_variant | 1.0 | cycloserine | |
lpqB | 3623222 | c.1689A>G | synonymous_variant | 0.52 | 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 | 4239298 | c.-565C>T | upstream_gene_variant | 0.63 | ethambutol | Not assoc w R |
embC | 4242643 | c.2781C>T | synonymous_variant | 1.0 | ethambutol | Not assoc w R |
embC | 4242803 | p.Val981Leu | missense_variant | 0.48 | ethambutol | Not assoc w R |
embB | 4249594 | c.3081G>A | synonymous_variant | 0.38 | ethambutol | Not assoc w R - Interim |
aftB | 4267274 | c.1563G>A | synonymous_variant | 0.36 | ethambutol | |
ubiA | 4269148 | p.Val229Ala | missense_variant | 0.2 | ethambutol | Uncertain significance |
ubiA | 4269731 | p.Ala35Thr | missense_variant | 0.34 | ethambutol | Uncertain significance |
ethA | 4328376 | c.-903G>C | upstream_gene_variant | 0.55 | ethionamide | |
whiB6 | 4338513 | c.9C>T | synonymous_variant | 0.51 | capreomycin | Not assoc w R - Interim |
amikacin | Not assoc w R - Interim | |||||
kanamycin | Not assoc w R - Interim | |||||
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 |