TB-Profiler result

Run: SRR25827449
Summary

Run ID: SRR25827449

Sample name:

Date: 2024-05-22T09:02:09.243377

Number of reads: 106351083

Percentage reads mapped: 98.98

Median coverage: 3159.0

Strain: lineage1.1.2;lineage1.1.3.1;lineage2.2.1

Spoligotype:

Drug-resistance: MDR-TB

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Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
lineage1.1.2 Indo-Oceanic RD239 0.22
lineage1.1.3 Indo-Oceanic RD239 0.53
lineage2 East-Asian RD105 0.25
lineage1.1 Indo-Oceanic RD239 0.75
lineage2.2.1 East-Asian (Beijing) RD105;RD207;RD181 0.24
lineage2.2 East-Asian (Beijing) RD105;RD207 0.25
lineage1 Indo-Oceanic RD239 0.76
lineage1.1.3.1 Indo-Oceanic RD239 0.52
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
p.Gln853Pro Uncertain significance Mutation from literature
pyrazinamide pncA p.Thr142Ala 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 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 0.24 rifampicin Assoc w R
rpsL 781687 p.Lys43Arg missense_variant 0.24 streptomycin Assoc w R
katG 2155168 p.Ser315Thr missense_variant 0.25 isoniazid Assoc w R High-level resistance
pncA 2288818 p.Thr142Ala missense_variant 0.27 pyrazinamide Assoc w R
thyX 3067961 c.-16C>T upstream_gene_variant 0.24 para-aminosalicylic_acid Mutation from literature
embB 4247429 p.Met306Val missense_variant 0.23 ethambutol Assoc w R
embB 4249071 p.Gln853Pro missense_variant 0.25 ethambutol Uncertain significance Mutation from literature
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 6112 p.Met291Ile missense_variant 0.76 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrB 6124 c.885C>T synonymous_variant 0.22 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 7283 c.-19G>T upstream_gene_variant 0.26 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 8452 p.Ala384Val missense_variant 0.77 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 9047 c.1746C>T synonymous_variant 0.23 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R
gyrA 9143 c.1842T>C synonymous_variant 0.77 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 0.76 isoniazid Not assoc w R
Rv0010c 13460 c.99T>C synonymous_variant 0.62 isoniazid Not assoc w R
fgd1 491742 c.960T>C synonymous_variant 1.0 clofazimine Not assoc w R
pretomanid
delamanid Not assoc w R - Interim
mshA 575907 p.Ala187Val missense_variant 0.24 ethionamide Not assoc w R
isoniazid Not assoc w R
mshA 576000 p.Asp218Ala missense_variant 0.24 ethionamide Uncertain significance
isoniazid Not assoc w R - Interim
ccsA 620625 p.Ile245Met missense_variant 0.24 capreomycin Not assoc w R
amikacin Not assoc w R
kanamycin Uncertain significance
Rv0565c 657081 c.390G>A synonymous_variant 0.21 ethionamide Not assoc w R - Interim
Rv0565c 657142 p.Arg110His missense_variant 0.21 ethionamide Uncertain significance
Rv0565c 657578 c.-108T>C upstream_gene_variant 0.77 ethionamide
nusG 734116 c.-138T>C upstream_gene_variant 0.76 rifampicin Not assoc w R
rpoB 759546 c.-261A>G upstream_gene_variant 0.22 rifampicin Not assoc w R
rpoB 760490 c.684C>T synonymous_variant 0.23 rifampicin Not assoc w R
rpoB 760835 p.His343Gln missense_variant 0.22 rifampicin Uncertain significance
rpoB 763031 c.3225T>C synonymous_variant 1.0 rifampicin Not assoc w R
rpoC 763884 p.Ala172Val missense_variant 0.75 rifampicin Not assoc w R
rpoC 763886 c.517C>A synonymous_variant 0.75 rifampicin Not assoc w R
rpoC 765171 p.Pro601Leu missense_variant 0.73 rifampicin Not assoc w R
rpoC 765230 p.Ala621Thr missense_variant 0.5 rifampicin Not assoc w R
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 1.0 clofazimine Not assoc w R
bedaquiline Not assoc w R - Interim
mmpL5 776182 p.Asp767Asn missense_variant 0.26 clofazimine Not assoc w R
bedaquiline Not assoc w R
mmpL5 776395 p.Phe696Leu missense_variant 0.21 clofazimine Not assoc w R
bedaquiline Uncertain significance
mmpS5 779526 c.-621G>A upstream_gene_variant 0.55 clofazimine
bedaquiline
mmpS5 779615 c.-710C>G upstream_gene_variant 0.24 clofazimine
bedaquiline
rpsL 781395 c.-165T>C upstream_gene_variant 1.0 streptomycin Not assoc w R
rplC 800357 c.-452C>A upstream_gene_variant 0.76 linezolid Not assoc w R
Rv1129c 1254562 c.-28T>C upstream_gene_variant 1.0 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 0.25 streptomycin Uncertain significance
isoniazid Uncertain significance
pyrazinamide Uncertain significance
embR 1417019 p.Cys110Tyr missense_variant 0.77 ethambutol Not assoc w R
embR 1417554 c.-207C>G upstream_gene_variant 0.74 ethambutol
embR 1417793 c.-446C>T upstream_gene_variant 0.74 ethambutol
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 streptomycin
kanamycin
capreomycin
amikacin
rrs 1471786 n.-60T>G upstream_gene_variant 0.13 streptomycin
kanamycin
capreomycin
amikacin
rpsA 1834177 c.636A>C synonymous_variant 0.26 pyrazinamide Not assoc w R - Interim
tsnR 1853974 c.369C>T synonymous_variant 0.75 linezolid Not assoc w R
tsnR 1854045 p.Tyr147Cys missense_variant 0.76 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
tlyA 1918254 c.315C>T synonymous_variant 0.51 capreomycin
bacA 2062922 p.Ile603Val missense_variant 0.75 streptomycin Not assoc w R
kanamycin Not assoc w R
capreomycin Not assoc w R
amikacin Not assoc w R
katG 2154724 p.Arg463Leu missense_variant 1.0 isoniazid Not assoc w R
katG 2156421 c.-310G>T upstream_gene_variant 0.21 isoniazid Uncertain significance
PPE35 2167926 p.Leu896Ser missense_variant 1.0 pyrazinamide Not assoc w R
PPE35 2167983 p.Gly877Asp missense_variant 0.72 pyrazinamide Uncertain significance
Rv1979c 2222308 p.Asp286Gly missense_variant 0.75 clofazimine Not assoc w R
bedaquiline Not assoc w R - Interim
Rv1979c 2223293 c.-129A>G upstream_gene_variant 1.0 clofazimine Not assoc w R
bedaquiline Not assoc w R - Interim
kasA 2518132 c.18C>T synonymous_variant 0.75 isoniazid
eis 2714756 p.Pro193Ser missense_variant 0.21 amikacin Uncertain significance
kanamycin Uncertain significance
ahpC 2726051 c.-142G>A upstream_gene_variant 0.74 isoniazid
Rv2477c 2784123 c.-81G>A upstream_gene_variant 0.21 ethambutol Uncertain significance
moxifloxacin Uncertain significance
streptomycin Uncertain significance
levofloxacin Uncertain significance
kanamycin Uncertain significance
rifampicin Uncertain significance
amikacin Uncertain significance
Rv2477c 2784617 c.-575T>C upstream_gene_variant 0.96 ethambutol
moxifloxacin
streptomycin
levofloxacin
kanamycin
rifampicin
amikacin
Rv2681 2996912 c.174C>T synonymous_variant 0.24 capreomycin Not assoc w R
Rv2752c 3064632 c.1560C>T synonymous_variant 0.74 ethambutol Not assoc w R
moxifloxacin Not assoc w R
levofloxacin Not assoc w R
rifampicin Not assoc w R
isoniazid Not assoc w R
thyA 3074069 p.Val135Phe missense_variant 0.25 para-aminosalicylic_acid
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
Rv3083 3448714 p.Asp71His missense_variant 0.74 ethionamide Uncertain significance
Rv3236c 3612813 p.Thr102Ala missense_variant 0.25 pyrazinamide Not assoc w R - Interim
lpqB 3624486 p.Asp142Gly missense_variant 0.74 bedaquiline Uncertain significance
rifampicin Not assoc w R
mtrB 3625065 p.Met517Leu missense_variant 1.0 bedaquiline Uncertain significance
rifampicin Not assoc w R
mtrB 3626467 c.147G>A synonymous_variant 0.23 bedaquiline Not assoc w R - Interim
rifampicin Not assoc w R
mtrB 3626562 p.Pro18Ser missense_variant 0.25 bedaquiline Uncertain significance
rifampicin Not assoc w R
alr 3841253 c.168C>T synonymous_variant 0.53 cycloserine
clpC1 4040517 p.Val63Ala missense_variant 0.76 pyrazinamide Not assoc w R - Interim
panD 4044740 c.-459C>T upstream_gene_variant 0.23 pyrazinamide
glpK 4138377 p.Val460Ala missense_variant 0.76 ethambutol Not assoc w R
moxifloxacin Not assoc w R
streptomycin Not assoc w R
levofloxacin Not assoc w R
rifampicin Not assoc w R
isoniazid Not assoc w R
glpK 4139663 c.93C>T synonymous_variant 0.54 ethambutol
moxifloxacin
streptomycin
levofloxacin
rifampicin
isoniazid
embC 4240671 p.Thr270Ile missense_variant 0.77 ethambutol Not assoc w R
embC 4241042 p.Asn394Asp missense_variant 0.76 ethambutol Not assoc w R
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embA 4243460 c.228C>T synonymous_variant 0.24 ethambutol Not assoc w R
embA 4243848 p.Val206Met missense_variant 0.74 ethambutol Not assoc w R
embA 4245969 p.Pro913Ser missense_variant 0.75 ethambutol Not assoc w R
embB 4247028 p.Leu172Arg missense_variant 0.14 ethambutol
embB 4247646 p.Glu378Ala missense_variant 0.78 ethambutol Not assoc w R
embB 4249757 p.Thr1082Ala missense_variant 0.24 ethambutol Not assoc w R
aftB 4267647 p.Asp397Gly missense_variant 0.26 ethambutol Not assoc w R
ubiA 4269387 p.Glu149Asp missense_variant 0.73 ethambutol Not assoc w R
ubiA 4269606 c.228T>C synonymous_variant 0.75 ethambutol Not assoc w R
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 4338603 c.-82C>T upstream_gene_variant 0.44 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 1.0 streptomycin Not assoc w R
gid 4407780 c.423G>A synonymous_variant 0.54 streptomycin Not assoc w R - Interim
gid 4407873 c.330G>T synonymous_variant 0.76 streptomycin Not assoc w R
gid 4407927 p.Glu92Asp missense_variant 0.23 streptomycin Not assoc w R