TB-Profiler result

Run: ERR4797622
Summary

Run ID: ERR4797622

Sample name:

Date: 2024-10-03T15:30:57.881431

Number of reads: 4409302

Percentage reads mapped: 99.5

Median coverage: 136.0

Strain: lineage1.1.2;lineage2.2.1

Spoligotype:

Drug-resistance: Pre-XDR-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 0.29
lineage2 East-Asian RD105 0.72
lineage1.1 Indo-Oceanic RD239 0.3
lineage2.2.1 East-Asian (Beijing) RD105;RD207;RD181 0.69
lineage2.2 East-Asian (Beijing) RD105;RD207 0.73
lineage1 Indo-Oceanic RD239 0.28
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
rpoC p.Ile491Thr Uncertain significance Mutation from literature
isoniazid katG p.Ser315Thr Assoc w R High-level resistance
ethambutol embA c.-16C>T Uncertain significance Mutation from literature
pyrazinamide pncA p.Ile5Ser Assoc w R
streptomycin rpsL p.Lys43Arg Assoc w R
fluoroquinolones
moxifloxacin gyrA p.Asp94Asn Assoc w R High-level resistance
ofloxacin
levofloxacin gyrA p.Asp94Asn Assoc w R
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
eis c.-12C>T Assoc w R
cycloserine
ethionamide
clofazimine
para-aminosalicylic_acid thyA p.Thr22Ala 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 7581 p.Asp94Asn missense_variant 0.6 levofloxacin Assoc w R
moxifloxacin Assoc w R High-level resistance
rpoB 761155 p.Ser450Leu missense_variant 0.67 rifampicin Assoc w R
rpoC 764841 p.Ile491Thr missense_variant 0.69 rifampicin Uncertain significance Mutation from literature
rpsL 781687 p.Lys43Arg missense_variant 0.78 streptomycin Assoc w R
rrs 1473246 n.1401A>G non_coding_transcript_exon_variant 0.6 amikacin Assoc w R
capreomycin Assoc w R
kanamycin Assoc w R
katG 2155168 p.Ser315Thr missense_variant 0.7 isoniazid Assoc w R High-level resistance
pncA 2289228 p.Ile5Ser missense_variant 0.75 pyrazinamide Assoc w R
eis 2715344 c.-12C>T upstream_gene_variant 0.68 kanamycin Assoc w R
thyA 3074408 p.Thr22Ala missense_variant 0.68 para-aminosalicylic_acid Mutation from literature
embA 4243217 c.-16C>T upstream_gene_variant 0.77 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 0.34 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrB 6124 c.885C>T synonymous_variant 0.36 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 7585 p.Ser95Thr missense_variant 1.0 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 8452 p.Ala384Val missense_variant 0.31 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 9143 c.1842T>C synonymous_variant 0.26 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 0.27 isoniazid Not assoc w R
Rv0010c 13460 c.99T>C synonymous_variant 0.25 isoniazid Not assoc w R
fgd1 491290 p.Val170Met missense_variant 0.67 pretomanid
delamanid Uncertain significance
clofazimine 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 575646 c.301delG frameshift_variant 0.7 isoniazid Uncertain significance
ethionamide Uncertain significance
mshA 575907 p.Ala187Val missense_variant 0.73 isoniazid Not assoc w R
ethionamide Not assoc w R
ccsA 620625 p.Ile245Met missense_variant 0.71 kanamycin Uncertain significance
capreomycin Not assoc w R
amikacin Not assoc w R
Rv0565c 657081 c.390G>A synonymous_variant 0.65 ethionamide Not assoc w R - Interim
Rv0565c 657142 p.Arg110His missense_variant 0.75 ethionamide Uncertain significance
Rv0565c 657578 c.-108T>C upstream_gene_variant 0.24 ethionamide
nusG 734116 c.-138T>C upstream_gene_variant 0.28 rifampicin Not assoc w R
rpoB 763031 c.3225T>C synonymous_variant 1.0 rifampicin Not assoc w R
rpoC 763884 p.Ala172Val missense_variant 0.31 rifampicin Not assoc w R
rpoC 763886 c.517C>A synonymous_variant 0.31 rifampicin Not assoc w R
rpoC 765171 p.Pro601Leu missense_variant 0.27 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 1.0 bedaquiline Not assoc w R - Interim
clofazimine Not assoc w R
mmpL5 776182 p.Asp767Asn missense_variant 0.68 bedaquiline Not assoc w R
clofazimine Not assoc w R
mmpR5 779216 p.Gln76Arg missense_variant 0.8 bedaquiline Uncertain significance
clofazimine Uncertain significance
mmpS5 779615 c.-710C>G upstream_gene_variant 0.66 bedaquiline
clofazimine
rpsL 781395 c.-165T>C upstream_gene_variant 0.99 streptomycin Not assoc w R
rplC 800357 c.-452C>A upstream_gene_variant 0.29 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
Rv1258c 1406760 c.580_581insC frameshift_variant 0.74 streptomycin Uncertain significance
pyrazinamide Uncertain significance
isoniazid Uncertain significance
embR 1417019 p.Cys110Tyr missense_variant 0.32 ethambutol Not assoc w R
embR 1417554 c.-207C>G upstream_gene_variant 0.34 ethambutol
embR 1417793 c.-446C>T upstream_gene_variant 0.31 ethambutol
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 kanamycin
capreomycin
streptomycin
amikacin
rrs 1472873 n.1028C>A non_coding_transcript_exon_variant 0.34 kanamycin Uncertain significance
capreomycin Uncertain significance
streptomycin
amikacin Uncertain significance
rrl 1475479 n.1822C>T non_coding_transcript_exon_variant 0.68 capreomycin Uncertain significance
linezolid Uncertain significance
rpsA 1834177 c.636A>C synonymous_variant 0.69 pyrazinamide Not assoc w R - Interim
tsnR 1853974 c.369C>T synonymous_variant 0.25 linezolid Not assoc w R
tsnR 1854045 p.Tyr147Cys missense_variant 0.23 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 0.17 kanamycin Not assoc w R
capreomycin Not assoc w R
streptomycin Not assoc w R
amikacin Not assoc w R
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 2167983 p.Gly877Asp missense_variant 0.29 pyrazinamide Uncertain significance
Rv1979c 2222308 p.Asp286Gly missense_variant 0.25 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 0.24 isoniazid
ahpC 2726051 c.-142G>A upstream_gene_variant 0.28 isoniazid
Rv2681 2996912 c.174C>T synonymous_variant 0.31 capreomycin Not assoc w R
Rv2752c 3064632 c.1560C>T synonymous_variant 0.25 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
thyX 3067949 c.-4C>T upstream_gene_variant 0.71 para-aminosalicylic_acid
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
Rv3083 3448714 p.Asp71His missense_variant 0.24 ethionamide Uncertain significance
Rv3236c 3612813 p.Thr102Ala missense_variant 0.64 pyrazinamide Not assoc w R - Interim
lpqB 3624486 p.Asp142Gly missense_variant 0.22 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 3626481 c.133C>T synonymous_variant 0.29 rifampicin Not assoc w R - Interim
bedaquiline Not assoc w R - Interim
mtrB 3626562 p.Pro18Ser missense_variant 0.67 rifampicin Not assoc w R
bedaquiline Uncertain significance
clpC1 4040517 p.Val63Ala missense_variant 0.39 pyrazinamide Not assoc w R - Interim
glpK 4138377 p.Val460Ala missense_variant 0.23 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 0.34 ethambutol Not assoc w R
embC 4241022 p.Ala387Val missense_variant 0.7 ethambutol Uncertain significance
embC 4241042 p.Asn394Asp missense_variant 0.31 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 0.65 ethambutol Not assoc w R
embA 4243848 p.Val206Met missense_variant 0.33 ethambutol Not assoc w R
embA 4245969 p.Pro913Ser missense_variant 0.26 ethambutol Not assoc w R
embB 4247646 p.Glu378Ala missense_variant 0.37 ethambutol Not assoc w R
embB 4247847 p.Gln445Arg missense_variant 0.66 ethambutol Uncertain significance
embB 4249673 p.Ser1054Pro missense_variant 0.3 ethambutol Not assoc w R - Interim
aftB 4267647 p.Asp397Gly missense_variant 0.69 ethambutol Not assoc w R
ubiA 4269387 p.Glu149Asp missense_variant 0.32 ethambutol Not assoc w R
ubiA 4269606 c.228T>C synonymous_variant 0.28 ethambutol Not assoc w R
ethA 4326977 p.His166Pro missense_variant 0.7 ethionamide Uncertain significance
whiB6 4338292 p.Ala77Val missense_variant 0.75 kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin 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 4338603 c.-82C>T upstream_gene_variant 0.23 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 4407620 p.Tyr195His missense_variant 0.75 streptomycin Not assoc w R
gid 4407873 c.330G>T synonymous_variant 0.24 streptomycin Not assoc w R
gid 4407927 p.Glu92Asp missense_variant 0.66 streptomycin Not assoc w R