TB-Profiler result

Run: ERR4800221
Summary

Run ID: ERR4800221

Sample name:

Date: 2024-10-03T23:55:40.374647

Number of reads: 2128794

Percentage reads mapped: 99.39

Median coverage: 61.0

Strain: lineage1.1.2;lineage2.2.1

Spoligotype:

Drug-resistance: HR-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 0.53
lineage2 East-Asian RD105 0.46
lineage1.1 Indo-Oceanic RD239 0.55
lineage2.2.1 East-Asian (Beijing) RD105;RD207;RD181 0.4
lineage2.2 East-Asian (Beijing) RD105;RD207 0.45
lineage1 Indo-Oceanic RD239 0.58
Drug resistance: This table reports drug-resistance associated mutations found in known resistance genes
Drug Resistance Supporting mutations WHO confidence Comment
rifampicin
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 c.391dupG Assoc w R
streptomycin rpsL p.Lys43Arg Assoc w R
fluoroquinolones
moxifloxacin gyrA p.Asp94Gly Assoc w R High-level resistance
ofloxacin
levofloxacin gyrA p.Asp94Gly Assoc w R
ciprofloxacin
aminoglycosides
amikacin
capreomycin
kanamycin
cycloserine
ethionamide ethA c.1047dupT Assoc w R
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
gyrA 7582 p.Asp94Gly missense_variant 0.45 levofloxacin Assoc w R
moxifloxacin Assoc w R High-level resistance
rpsL 781687 p.Lys43Arg missense_variant 0.43 streptomycin Assoc w R
katG 2155168 p.Ser315Thr missense_variant 0.54 isoniazid Assoc w R High-level resistance
pncA 2288850 c.391dupG frameshift_variant 0.45 pyrazinamide Assoc w R
thyX 3067961 c.-16C>T upstream_gene_variant 0.45 para-aminosalicylic_acid Mutation from literature
embB 4247429 p.Met306Val missense_variant 0.48 ethambutol Assoc w R
embB 4249071 p.Gln853Pro missense_variant 0.29 ethambutol Uncertain significance Mutation from literature
ethA 4326426 c.1047dupT frameshift_variant 0.38 ethionamide 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 6112 p.Met291Ile missense_variant 0.51 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrB 6124 c.885C>T synonymous_variant 0.55 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 7283 c.-19G>T upstream_gene_variant 0.53 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 0.6 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 9062 c.1761C>G synonymous_variant 0.64 levofloxacin
moxifloxacin
gyrA 9143 c.1842T>C synonymous_variant 0.58 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 0.56 isoniazid Not assoc w R
Rv0010c 13460 c.99T>C synonymous_variant 0.59 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
mshA 575907 p.Ala187Val missense_variant 0.49 isoniazid Not assoc w R
ethionamide Not assoc w R
ccsA 620625 p.Ile245Met missense_variant 0.48 kanamycin Uncertain significance
capreomycin Not assoc w R
amikacin Not assoc w R
Rv0565c 657081 c.390G>A synonymous_variant 0.52 ethionamide Not assoc w R - Interim
Rv0565c 657142 p.Arg110His missense_variant 0.55 ethionamide Uncertain significance
Rv0565c 657578 c.-108T>C upstream_gene_variant 0.52 ethionamide
nusG 734116 c.-138T>C upstream_gene_variant 0.61 rifampicin Not assoc w R
rpoB 759546 c.-261A>G upstream_gene_variant 0.48 rifampicin Not assoc w R
rpoB 760490 c.684C>T synonymous_variant 0.48 rifampicin Not assoc w R
rpoB 763031 c.3225T>C synonymous_variant 0.99 rifampicin Not assoc w R
rpoC 763884 p.Ala172Val missense_variant 0.42 rifampicin Not assoc w R
rpoC 763886 c.517C>A synonymous_variant 0.42 rifampicin Not assoc w R
rpoC 764666 p.Gly433Ser missense_variant 0.54 rifampicin Uncertain significance
rpoC 765171 p.Pro601Leu missense_variant 0.55 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 0.99 bedaquiline Not assoc w R - Interim
clofazimine Not assoc w R
mmpL5 776182 p.Asp767Asn missense_variant 0.34 bedaquiline Not assoc w R
clofazimine Not assoc w R
mmpL5 776395 p.Phe696Leu missense_variant 0.57 bedaquiline Uncertain significance
clofazimine Not assoc w R
mmpS5 779615 c.-710C>G upstream_gene_variant 0.53 bedaquiline
clofazimine
rpsL 781395 c.-165T>C upstream_gene_variant 1.0 streptomycin Not assoc w R
rplC 800357 c.-452C>A upstream_gene_variant 0.5 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
Rv1129c 1254591 c.-57C>T upstream_gene_variant 0.66 levofloxacin
moxifloxacin
isoniazid
rifampicin
Rv1258c 1406760 c.580_581insC frameshift_variant 0.45 streptomycin Uncertain significance
pyrazinamide Uncertain significance
isoniazid Uncertain significance
embR 1417019 p.Cys110Tyr missense_variant 0.71 ethambutol Not assoc w R
embR 1417554 c.-207C>G upstream_gene_variant 0.54 ethambutol
embR 1417793 c.-446C>T upstream_gene_variant 0.55 ethambutol
atpE 1460890 c.-155G>T upstream_gene_variant 0.56 bedaquiline
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 kanamycin
capreomycin
streptomycin
amikacin
rpsA 1834177 c.636A>C synonymous_variant 0.4 pyrazinamide Not assoc w R - Interim
tsnR 1853843 p.Ser80Pro missense_variant 0.4 linezolid Uncertain significance
tsnR 1853974 c.369C>T synonymous_variant 0.43 linezolid Not assoc w R
tsnR 1854045 p.Tyr147Cys missense_variant 0.49 linezolid Not assoc w R
tsnR 1854300 p.Leu232Pro missense_variant 0.98 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 0.6 kanamycin Not assoc w R
capreomycin Not assoc w R
streptomycin Not assoc w R
amikacin Not assoc w R
bacA 2064831 c.-103C>T upstream_gene_variant 0.47 kanamycin
capreomycin
streptomycin
amikacin
ndh 2102791 c.252A>C synonymous_variant 0.46 isoniazid Not assoc w R - Interim
delamanid Not assoc w R - Interim
ethionamide Not assoc w R - Interim
katG 2153967 c.2145C>T synonymous_variant 0.58 isoniazid
katG 2154724 p.Arg463Leu missense_variant 0.98 isoniazid Not assoc w R
PPE35 2167926 p.Leu896Ser missense_variant 1.0 pyrazinamide Not assoc w R
PPE35 2167983 p.Gly877Asp missense_variant 0.58 pyrazinamide Uncertain significance
PPE35 2170785 c.-173T>C upstream_gene_variant 0.6 pyrazinamide
Rv1979c 2222308 p.Asp286Gly missense_variant 0.6 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
kasA 2518132 c.18C>T synonymous_variant 0.44 isoniazid
eis 2715016 p.Arg106His missense_variant 0.64 kanamycin Uncertain significance
amikacin Uncertain significance
ahpC 2726051 c.-142G>A upstream_gene_variant 0.44 isoniazid
pepQ 2860365 c.54G>T synonymous_variant 0.35 bedaquiline Not assoc w R - Interim
clofazimine Not assoc w R - Interim
Rv2681 2996912 c.174C>T synonymous_variant 0.61 capreomycin Not assoc w R
Rv2752c 3064632 c.1560C>T synonymous_variant 0.49 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
isoniazid Not assoc w R
rifampicin Not assoc w R
ethambutol Not assoc w R
Rv2752c 3065419 p.Arg258Leu missense_variant 0.7 levofloxacin Uncertain significance
moxifloxacin Uncertain significance
isoniazid Uncertain significance
rifampicin Uncertain significance
ethambutol Uncertain significance
thyA 3074069 p.Val135Phe missense_variant 0.42 para-aminosalicylic_acid
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
Rv3083 3448714 p.Asp71His missense_variant 0.53 ethionamide Uncertain significance
Rv3236c 3612813 p.Thr102Ala missense_variant 0.43 pyrazinamide Not assoc w R - Interim
lpqB 3624486 p.Asp142Gly missense_variant 0.67 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 0.5 rifampicin Not assoc w R
bedaquiline Not assoc w R - Interim
mtrB 3626562 p.Pro18Ser missense_variant 0.31 rifampicin Not assoc w R
bedaquiline Uncertain significance
rpoA 3878575 c.-68C>A upstream_gene_variant 0.56 rifampicin Uncertain significance
clpC1 4040517 p.Val63Ala missense_variant 0.45 pyrazinamide Not assoc w R - Interim
panD 4044740 c.-459C>T upstream_gene_variant 0.5 pyrazinamide
glpK 4138377 p.Val460Ala missense_variant 0.42 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 0.43 ethambutol Not assoc w R
embC 4241042 p.Asn394Asp missense_variant 0.65 ethambutol Not assoc w R
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embA 4243217 c.-16C>A upstream_gene_variant 0.44 ethambutol Uncertain significance
embA 4243460 c.228C>T synonymous_variant 0.46 ethambutol Not assoc w R
embA 4243848 p.Val206Met missense_variant 0.53 ethambutol Not assoc w R
embA 4245969 p.Pro913Ser missense_variant 0.52 ethambutol Not assoc w R
embB 4247646 p.Glu378Ala missense_variant 0.54 ethambutol Not assoc w R
embB 4249757 p.Thr1082Ala missense_variant 0.38 ethambutol Not assoc w R
aftB 4267647 p.Asp397Gly missense_variant 0.57 ethambutol Not assoc w R
ubiA 4269387 p.Glu149Asp missense_variant 0.56 ethambutol Not assoc w R
ubiA 4269606 c.228T>C synonymous_variant 0.47 ethambutol 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 0.58 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 0.98 streptomycin Not assoc w R
gid 4407873 c.330G>T synonymous_variant 0.58 streptomycin Not assoc w R
gid 4407927 p.Glu92Asp missense_variant 0.49 streptomycin Not assoc w R