TB-Profiler result

Run: ERR4798238
Summary

Run ID: ERR4798238

Sample name:

Date: 2024-10-05T08:34:36.493644

Number of reads: 3262125

Percentage reads mapped: 99.68

Median coverage: 94.0

Strain: lineage3;lineage4.3.3

Spoligotype:

Drug-resistance: MDR-TB

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Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
lineage3 East-African-Indian RD750 0.71
lineage4.3 Euro-American (LAM) None 0.31
lineage4 Euro-American None 0.28
lineage4.3.3 Euro-American (LAM) RD115 0.33
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 katG p.Ser315Thr Assoc w R High-level resistance
ethambutol embB p.Met306Val Assoc w R
pyrazinamide
streptomycin rpsL p.Lys43Arg Assoc w R
fluoroquinolones
moxifloxacin
ofloxacin
levofloxacin
ciprofloxacin
aminoglycosides
amikacin
capreomycin
kanamycin
cycloserine
ethionamide
clofazimine
para-aminosalicylic_acid thyX c.-16C>T Mutation from literature
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
rpoB 761155 p.Ser450Leu missense_variant 0.73 rifampicin Assoc w R
rpsL 781687 p.Lys43Arg missense_variant 0.6 streptomycin Assoc w R
katG 2155168 p.Ser315Thr missense_variant 0.56 isoniazid Assoc w R High-level resistance
thyX 3067961 c.-16C>T upstream_gene_variant 0.67 para-aminosalicylic_acid Mutation from literature
embB 4247429 p.Met306Val missense_variant 0.68 ethambutol 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
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 8040 p.Gly247Ser missense_variant 0.29 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 491742 c.960T>C synonymous_variant 0.67 pretomanid
delamanid Not assoc w R - Interim
clofazimine Not assoc w R
Rv0565c 656705 p.Leu256Met missense_variant 0.67 ethionamide
Rv0565c 657081 c.390G>A synonymous_variant 0.65 ethionamide Not assoc w R - Interim
rpoB 759589 c.-218G>A upstream_gene_variant 0.35 rifampicin Uncertain significance
rpoB 759746 c.-61C>T upstream_gene_variant 0.74 rifampicin Not assoc w R
rpoB 762434 c.2628T>G synonymous_variant 0.7 rifampicin Not assoc w R
rpoB 763031 c.3225T>C synonymous_variant 0.6 rifampicin Not assoc w R
rpoC 764817 p.Val483Ala missense_variant 0.66 rifampicin Uncertain significance
rpoC 764995 c.1626C>G synonymous_variant 0.33 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 776100 p.Thr794Ile missense_variant 0.8 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
Rv1129c 1254562 c.-28T>C upstream_gene_variant 0.71 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
isoniazid Not assoc w R
rifampicin Not assoc w R
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 kanamycin
capreomycin
streptomycin
amikacin
rpsA 1834836 p.Met432Thr missense_variant 0.33 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
katG 2154724 p.Arg463Leu missense_variant 0.68 isoniazid Not assoc w R
katG 2156196 c.-85C>T upstream_gene_variant 0.29 isoniazid Not assoc w R
PPE35 2167926 p.Leu896Ser missense_variant 0.68 pyrazinamide 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
pncA 2289365 c.-125delC upstream_gene_variant 0.66 pyrazinamide
kasA 2518919 p.Gly269Ser missense_variant 0.4 isoniazid
ahpC 2726105 c.-88G>A upstream_gene_variant 0.65 isoniazid Not assoc w R
folC 2746340 p.Ala420Val missense_variant 0.36 para-aminosalicylic_acid
Rv2477c 2782498 c.1545C>T synonymous_variant 0.7 kanamycin Not assoc w R
levofloxacin Not assoc w R
moxifloxacin Not assoc w R
streptomycin Not assoc w R - Interim
rifampicin Not assoc w R
ethambutol Not assoc w R
amikacin Not assoc w R
thyA 3073868 p.Thr202Ala missense_variant 0.33 para-aminosalicylic_acid
thyA 3074407 p.Thr22Asn missense_variant 0.62 para-aminosalicylic_acid
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
fbiB 3642877 p.Lys448Arg missense_variant 0.7 pretomanid
delamanid Uncertain significance
clofazimine Uncertain significance
clpC1 4038287 c.2418C>T synonymous_variant 0.24 pyrazinamide Not assoc w R
panD 4044872 c.-591C>T upstream_gene_variant 0.66 pyrazinamide
glpK 4138622 c.1134C>T synonymous_variant 0.72 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
isoniazid Not assoc w R
streptomycin Not assoc w R - Interim
rifampicin Not assoc w R
ethambutol Not assoc w R
glpK 4139246 c.510C>T synonymous_variant 0.7 levofloxacin Not assoc w R
moxifloxacin Not assoc w R - Interim
isoniazid Not assoc w R - Interim
streptomycin Not assoc w R - Interim
rifampicin Not assoc w R
ethambutol Not assoc w R
embC 4242075 p.Arg738Gln missense_variant 0.7 ethambutol Not assoc w R
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
ethA 4327229 p.Leu82Arg missense_variant 0.35 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
gid 4407588 c.615A>G synonymous_variant 0.59 streptomycin Not assoc w R
gid 4408156 p.Leu16Arg missense_variant 0.29 streptomycin Not assoc w R