TB-Profiler result

Run: ERR13284167
Summary

Run ID: ERR13284167

Sample name:

Date: 2025-02-11T09:25:34.581099

Number of reads: 1543118

Percentage reads mapped: 99.56

Median coverage: 80.0

Strain: lineage4.2.2

Spoligotype:

Drug-resistance: Pre-XDR-TB

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Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
lineage4.2.2 Euro-American (Ural) None 1.0
lineage4.2 Euro-American None 0.99
lineage4 Euro-American None 1.0
Drug resistance: This table reports drug-resistance associated mutations found in known resistance genes
Drug Resistance Supporting mutations WHO confidence Comment
rifampicin rpoB p.Ser450Leu Assoc w R
isoniazid inhA p.Ser94Ala Assoc w R - Interim Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance)
katG p.Tyr337Cys Uncertain significance Mutation from literature
ethambutol
pyrazinamide pncA p.Cys72Tyr Assoc w R - Interim
c.94_98delAGCGAinsC Assoc w R
c.32_33delACinsG Assoc w R
c.-11A>C Assoc w R
streptomycin gid c.351delG Assoc w R
fluoroquinolones
moxifloxacin gyrB p.Asn499Asp Assoc w R - Interim Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance)
ofloxacin
levofloxacin gyrB p.Asn499Asp Assoc w R
ciprofloxacin
aminoglycosides
amikacin
capreomycin
kanamycin
cycloserine
ethionamide inhA p.Ser94Ala Assoc w R - Interim
clofazimine
para-aminosalicylic_acid
delamanid
bedaquiline
linezolid
Drug resistance-Associated Mutations: This table reports mutations found in candidate resistance genes which have been associated with drug resistance
Gene Chromosome position Mutation Type Estimated fraction Drugs Confidence Comment
gyrB 6734 p.Asn499Asp missense_variant 1.0 levofloxacin Assoc w R
moxifloxacin Assoc w R - Interim Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance)
rpoB 761155 p.Ser450Leu missense_variant 1.0 rifampicin Assoc w R
inhA 1674481 p.Ser94Ala missense_variant 1.0 ethionamide Assoc w R - Interim
isoniazid Assoc w R - Interim Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance)
katG 2155102 p.Tyr337Cys missense_variant 1.0 isoniazid Uncertain significance Mutation from literature
pncA 2289027 p.Cys72Tyr missense_variant 0.14 pyrazinamide Assoc w R - Interim
pncA 2289144 c.94_98delAGCGAinsC frameshift_variant&missense_variant 0.33 pyrazinamide Assoc w R
pncA 2289209 c.32_33delACinsG frameshift_variant&missense_variant 0.36 pyrazinamide Assoc w R
pncA 2289252 c.-11A>C upstream_gene_variant 0.15 pyrazinamide Assoc w R
gid 4407851 c.351delG frameshift_variant 1.0 streptomycin Assoc w R
Non-Associated Mutations: This table reports mutations found in candidate resistance genes which have not been associated with drug resistance
Gene Chromosome position Mutation Type Estimated fraction Drugs Confidence
gyrB 5980 p.Lys247Asn missense_variant 1.0 levofloxacin
moxifloxacin
gyrB 7121 p.Pro628Ala missense_variant 1.0 levofloxacin Uncertain significance
moxifloxacin 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
mshA 576077 c.730C>T synonymous_variant 0.97 isoniazid Not assoc w R
ethionamide Not assoc w R - Interim
rpoC 764363 p.Gly332Ser missense_variant 0.64 rifampicin Uncertain significance
rpoC 766824 p.Lys1152Thr missense_variant 0.41 rifampicin Uncertain significance
mmpL5 775639 p.Ile948Val missense_variant 1.0 bedaquiline Not assoc w R - Interim
clofazimine Not assoc w R
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 kanamycin
capreomycin
streptomycin
amikacin
rpsA 1833786 p.Val82Gly missense_variant 0.28 pyrazinamide
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 kanamycin Not assoc w R - Interim
capreomycin Not assoc w R
streptomycin Not assoc w R - Interim
amikacin Not assoc w R
bacA 2063911 p.Ile273Thr missense_variant 1.0 kanamycin Uncertain significance
capreomycin Not assoc w R
streptomycin Uncertain significance
amikacin Not assoc w R
katG 2154295 p.Ala606Val missense_variant 0.99 isoniazid
PPE35 2168791 p.Pro608Ser missense_variant 1.0 pyrazinamide Uncertain significance
Rv1979c 2223293 c.-129A>G upstream_gene_variant 1.0 bedaquiline Not assoc w R - Interim
clofazimine Not assoc w R
Rv2752c 3066280 c.-89C>T upstream_gene_variant 1.0 levofloxacin
moxifloxacin
isoniazid
rifampicin
ethambutol
thyA 3074495 c.-24C>T upstream_gene_variant 0.32 para-aminosalicylic_acid
ald 3086742 c.-78A>C upstream_gene_variant 1.0 cycloserine
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
mtrB 3625065 p.Met517Leu missense_variant 1.0 rifampicin Not assoc w R
bedaquiline Uncertain significance
glpK 4139183 c.572dupG frameshift_variant 0.39 levofloxacin Uncertain significance
moxifloxacin Uncertain significance
isoniazid Uncertain significance
streptomycin Uncertain significance
rifampicin Uncertain significance
ethambutol Uncertain significance
embC 4239334 c.-529T>C upstream_gene_variant 0.99 ethambutol Not assoc w R
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embA 4244400 p.Leu390Met missense_variant 0.99 ethambutol Uncertain significance
embB 4249533 p.Ala1007Val missense_variant 1.0 ethambutol Uncertain significance
ethA 4326450 p.Thr342Pro missense_variant 0.43 ethionamide
ethA 4326935 p.Val180Gly missense_variant 0.29 ethionamide
ethA 4327334 p.Leu47Ser missense_variant 0.27 ethionamide 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 4338732 c.-211C>T upstream_gene_variant 1.0 kanamycin
capreomycin
amikacin