TB-Profiler result

Run: ERR4799898
Summary

Run ID: ERR4799898

Sample name:

Date: 2024-10-04T23:08:57.766189

Number of reads: 2588524

Percentage reads mapped: 99.34

Median coverage: 64.0

Strain: lineage1.2.2.2

Spoligotype:

Drug-resistance: MDR-TB

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Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
lineage1.2.2 Indo-Oceanic RD239 0.91
lineage1.2.2.2 Indo-Oceanic RD239 0.94
lineage1 Indo-Oceanic RD239 0.91
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 c.-778A>G Assoc w R - Interim Alias fabG1_c.-16A>G. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance)
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)
p.Ile21Thr Uncertain significance Mutation from literature
ethambutol embB p.Asp328Tyr Assoc w R
pyrazinamide pncA c.390_391dupGG Assoc w R
streptomycin rpsL p.Lys43Arg Assoc w R
fluoroquinolones
moxifloxacin
ofloxacin
levofloxacin
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.-778A>G Assoc w R - Interim Alias fabG1_c.-16A>G
c.-777C>T Assoc w R Alias fabG1_c.-15C>T
p.Ile21Thr Uncertain significance Mutation from literature
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
rpoB 761155 p.Ser450Leu missense_variant 0.94 rifampicin Assoc w R
rpsL 781687 p.Lys43Arg missense_variant 0.85 streptomycin Assoc w R
rrs 1473246 n.1401A>G non_coding_transcript_exon_variant 0.95 amikacin Assoc w R
capreomycin Assoc w R
kanamycin Assoc w R
inhA 1673424 c.-778A>G upstream_gene_variant 0.92 ethionamide Assoc w R - Interim Alias fabG1_c.-16A>G
isoniazid Assoc w R - Interim Alias fabG1_c.-16A>G. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance)
inhA 1673425 c.-777C>T upstream_gene_variant 0.92 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 1674263 p.Ile21Thr missense_variant 0.86 ethionamide Uncertain significance Mutation from literature
isoniazid Uncertain significance Mutation from literature
pncA 2288850 c.390_391dupGG frameshift_variant 0.88 pyrazinamide Assoc w R
embB 4247495 p.Asp328Tyr missense_variant 0.94 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
gyrB 5075 c.-165C>T upstream_gene_variant 0.94 levofloxacin
moxifloxacin
gyrB 6112 p.Met291Ile missense_variant 0.86 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 7268 c.-34C>T upstream_gene_variant 0.87 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 7401 p.Ser34Arg missense_variant 0.9 levofloxacin Uncertain significance
moxifloxacin
gyrA 7585 p.Ser95Thr missense_variant 1.0 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 8452 p.Ala384Val missense_variant 0.97 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 9143 c.1842T>C synonymous_variant 0.9 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
Rv0010c 13298 p.Ile87Met missense_variant 1.0 isoniazid Not assoc w R
Rv0010c 13460 c.99T>C synonymous_variant 0.98 isoniazid Not assoc w R
Rv0010c 13482 p.Ala26Val missense_variant 1.0 isoniazid Not assoc w R
Rv0010c 13699 c.-141A>G upstream_gene_variant 0.93 isoniazid 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
Rv0565c 657578 c.-108T>C upstream_gene_variant 0.93 ethionamide
nusG 734116 c.-138T>C upstream_gene_variant 0.86 rifampicin Not assoc w R
mmaA3 738201 c.-52G>T upstream_gene_variant 0.87 isoniazid
rpoB 760215 p.Asn137Asp missense_variant 0.88 rifampicin Uncertain significance
rpoB 763031 c.3225T>C synonymous_variant 1.0 rifampicin Not assoc w R
rpoC 763884 p.Ala172Val missense_variant 0.93 rifampicin Not assoc w R
rpoC 763886 c.517C>A synonymous_variant 0.95 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 0.98 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 800357 c.-452C>A upstream_gene_variant 0.93 linezolid Not assoc w R
Rv1129c 1254562 c.-28T>C upstream_gene_variant 1.0 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
isoniazid Not assoc w R
rifampicin Not assoc w R
embR 1417019 p.Cys110Tyr missense_variant 0.96 ethambutol Not assoc w R
embR 1417554 c.-207C>G upstream_gene_variant 0.97 ethambutol
embR 1417793 c.-446C>T upstream_gene_variant 0.92 ethambutol
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 kanamycin
capreomycin
streptomycin
amikacin
tsnR 1853974 c.369C>T synonymous_variant 0.98 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 0.93 kanamycin Not assoc w R
capreomycin Not assoc w R
streptomycin Not assoc w R
amikacin Not assoc w R
ndh 2102240 p.Arg268His missense_variant 0.9 isoniazid Not assoc w R - Interim
delamanid Uncertain significance
ethionamide Uncertain significance
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 2168742 p.Gly624Asp missense_variant 0.91 pyrazinamide Uncertain significance
Rv1979c 2222308 p.Asp286Gly missense_variant 0.91 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
Rv1979c 2223553 c.-389C>A upstream_gene_variant 0.89 bedaquiline Uncertain significance
clofazimine Not assoc w R
kasA 2518132 c.18C>T synonymous_variant 0.93 isoniazid
ahpC 2726051 c.-142G>A upstream_gene_variant 0.92 isoniazid
ahpC 2726418 p.Glu76Lys missense_variant 0.97 isoniazid Uncertain significance
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
Rv3083 3448714 p.Asp71His missense_variant 0.95 ethionamide Uncertain significance
lpqB 3624486 p.Asp142Gly missense_variant 0.92 rifampicin Not assoc w R
bedaquiline Uncertain significance
mtrB 3625065 p.Met517Leu missense_variant 1.0 rifampicin Not assoc w R
bedaquiline Uncertain significance
mtrB 3626467 c.147G>A synonymous_variant 0.98 rifampicin Not assoc w R
bedaquiline Not assoc w R - Interim
clpC1 4040517 p.Val63Ala missense_variant 0.98 pyrazinamide Not assoc w R - Interim
clpC1 4040719 c.-15A>G upstream_gene_variant 0.87 pyrazinamide Uncertain significance
glpK 4138377 p.Val460Ala missense_variant 1.0 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 0.92 ethambutol Not assoc w R
embC 4241042 p.Asn394Asp missense_variant 0.9 ethambutol Not assoc w R
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embA 4245969 p.Pro913Ser missense_variant 1.0 ethambutol Not assoc w R
embB 4247646 p.Glu378Ala missense_variant 0.93 ethambutol Not assoc w R
aftB 4267960 p.Val293Met missense_variant 0.93 ethambutol Uncertain significance
ubiA 4269387 p.Glu149Asp missense_variant 0.95 ethambutol Not assoc w R
ubiA 4269606 c.228T>C synonymous_variant 0.96 ethambutol Not assoc w R
ethA 4326148 c.1326G>T synonymous_variant 0.98 ethionamide Not assoc w R - Interim
ethA 4326439 p.Asn345Lys missense_variant 0.88 ethionamide Uncertain significance
ethA 4327126 p.Trp116Cys missense_variant 0.92 ethionamide Uncertain significance
whiB6 4338203 p.Arg107Cys missense_variant 0.88 kanamycin Not assoc w R
capreomycin Not assoc w R
amikacin Not assoc w R
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 0.9 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 4407848 p.Ala119Thr missense_variant 0.98 streptomycin Uncertain significance
gid 4407873 c.330G>T synonymous_variant 0.98 streptomycin Not assoc w R