TB-Profiler result

Run: ERR11082441
Summary

Run ID: ERR11082441

Sample name:

Date: 2024-04-15T18:02:19.294472

Number of reads: 5898321

Percentage reads mapped: 99.58

Median coverage: 181.0

Strain: lineage2.2.1;lineage4.3.3

Spoligotype:

Drug-resistance: MDR-TB

Download CSV Download TXT Download JSON
Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
lineage4.3 Euro-American (LAM) None 0.44
lineage2 East-Asian RD105 0.57
lineage2.2.1 East-Asian (Beijing) RD105;RD207;RD181 0.56
lineage2.2 East-Asian (Beijing) RD105;RD207 0.59
lineage4 Euro-American None 0.44
lineage4.3.3 Euro-American (LAM) RD115 0.44
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.Asp354Ala Assoc w R
p.Gly406Asp Assoc w R
pyrazinamide pncA p.Val139Met Assoc w R
p.Asp63Ala Assoc w R
streptomycin rpsL p.Lys43Arg Assoc w R
fluoroquinolones
moxifloxacin
ofloxacin
levofloxacin
ciprofloxacin
aminoglycosides
amikacin
capreomycin
kanamycin
cycloserine
ethionamide
clofazimine
para-aminosalicylic_acid
delamanid ddn p.Trp88* Assoc w R - Interim
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 1.0 rifampicin Assoc w R
rpsL 781687 p.Lys43Arg missense_variant 0.58 streptomycin Assoc w R
katG 2155168 p.Ser315Thr missense_variant 0.99 isoniazid Assoc w R High-level resistance
pncA 2288827 p.Val139Met missense_variant 0.46 pyrazinamide Assoc w R
pncA 2289054 p.Asp63Ala missense_variant 0.47 pyrazinamide Assoc w R
ddn 3987106 p.Trp88* stop_gained 0.52 delamanid Assoc w R - Interim
pretomanid Assoc w R - Interim Confers DLM-PMD cross-resistance
embB 4247574 p.Asp354Ala missense_variant 0.54 ethambutol Assoc w R
embB 4247730 p.Gly406Asp missense_variant 0.45 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 0.45 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 0.59 clofazimine Not assoc w R
pretomanid
delamanid Not assoc w R - Interim
mshA 575472 p.Asp42Gly missense_variant 0.15 ethionamide
isoniazid
mshA 575907 p.Ala187Val missense_variant 0.57 ethionamide Not assoc w R
isoniazid Not assoc w R
ccsA 620625 p.Ile245Met missense_variant 0.52 capreomycin Not assoc w R
amikacin Not assoc w R
kanamycin Uncertain significance
Rv0565c 657081 c.390G>A synonymous_variant 0.61 ethionamide Not assoc w R - Interim
Rv0565c 657142 p.Arg110His missense_variant 0.56 ethionamide Uncertain significance
rpoB 763031 c.3225T>C synonymous_variant 0.57 rifampicin Not assoc w R
rpoC 764817 p.Val483Ala missense_variant 0.45 rifampicin Uncertain significance
rpoC 764995 c.1626C>G synonymous_variant 0.4 rifampicin Not assoc w R
rpoC 766667 p.Ser1100Ala missense_variant 0.46 rifampicin Uncertain significance
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 0.55 clofazimine Not assoc w R
bedaquiline Not assoc w R - Interim
mmpL5 776182 p.Asp767Asn missense_variant 0.68 clofazimine Not assoc w R
bedaquiline Not assoc w R
mmpS5 779615 c.-710C>G upstream_gene_variant 0.61 clofazimine
bedaquiline
rpsL 781395 c.-165T>C upstream_gene_variant 1.0 streptomycin Not assoc w R
Rv1129c 1254562 c.-28T>C upstream_gene_variant 0.54 moxifloxacin Not assoc w R
levofloxacin Not assoc w R
rifampicin Not assoc w R
isoniazid Not assoc w R
Rv1258c 1406760 c.580_581insC frameshift_variant 0.53 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 0.59 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 0.57 isoniazid Not assoc w R
katG 2156663 c.-552G>A upstream_gene_variant 0.17 isoniazid
PPE35 2167926 p.Leu896Ser missense_variant 0.56 pyrazinamide Not assoc w R
Rv1979c 2223293 c.-129A>G upstream_gene_variant 1.0 clofazimine Not assoc w R
bedaquiline Not assoc w R - Interim
kasA 2518919 p.Gly269Ser missense_variant 0.44 isoniazid
thyA 3073868 p.Thr202Ala missense_variant 0.4 para-aminosalicylic_acid
ald 3086731 c.-89A>G upstream_gene_variant 0.64 cycloserine
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
fbiD 3339490 p.Leu125Ile missense_variant 0.44 clofazimine Uncertain significance
pretomanid
delamanid Uncertain significance
Rv3236c 3612813 p.Thr102Ala missense_variant 0.54 pyrazinamide 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 0.59 bedaquiline Uncertain significance
rifampicin Not assoc w R
rpoA 3877956 p.Glu184Asp missense_variant 0.6 rifampicin Uncertain significance
clpC1 4038287 c.2418C>T synonymous_variant 0.39 pyrazinamide Not assoc w R
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embA 4243346 c.114A>G synonymous_variant 0.58 ethambutol Not assoc w R - Interim
embA 4243460 c.228C>T synonymous_variant 0.58 ethambutol Not assoc w R
embA 4244823 p.Val531Leu missense_variant 0.37 ethambutol Uncertain significance
embB 4248316 c.1803C>T synonymous_variant 0.47 ethambutol Not assoc w R - Interim
aftB 4267647 p.Asp397Gly missense_variant 0.59 ethambutol Not assoc w R
whiB6 4338371 p.Thr51Pro missense_variant 0.51 capreomycin Not assoc w R
amikacin Not assoc w R
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 0.51 streptomycin Not assoc w R
gid 4407927 p.Glu92Asp missense_variant 0.52 streptomycin Not assoc w R
gid 4408009 p.Val65Ala missense_variant 0.41 streptomycin Uncertain significance
gid 4408156 p.Leu16Arg missense_variant 0.42 streptomycin Not assoc w R