TB-Profiler result

Run: SRR25827461

Summary

Run ID: SRR25827461

Sample name:

Date: 2024-10-05T08:04:35.830844

Number of reads: 9260106

Percentage reads mapped: 98.91

Median coverage: 307.0

Strain: lineage2.2.1;lineage3

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
lineage3 East-African-Indian RD750 0.53
lineage2 East-Asian RD105 0.46
lineage2.2.1 East-Asian (Beijing) RD105;RD207;RD181 0.46
lineage2.2 East-Asian (Beijing) RD105;RD207 0.47
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.Gly406Ala Assoc w R
p.Asp1024Asn Uncertain significance Mutation from literature
pyrazinamide pncA p.Thr160Ala Not assoc w R - Interim Mutation from literature
c.390_391dupGG Assoc w R
p.Leu27Pro Assoc w R
streptomycin rpsL p.Lys43Arg Assoc w R
p.Lys88Arg Assoc w R
gid c.115delC 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.10_19dupCACCTCGACG Assoc w R
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
gyrA 7582 p.Asp94Gly missense_variant 0.56 levofloxacin Assoc w R
moxifloxacin Assoc w R High-level resistance
rpoB 761155 p.Ser450Leu missense_variant 1.0 rifampicin Assoc w R
rpsL 781687 p.Lys43Arg missense_variant 0.46 streptomycin Assoc w R
rpsL 781822 p.Lys88Arg missense_variant 0.21 streptomycin Assoc w R
katG 2155168 p.Ser315Thr missense_variant 1.0 isoniazid Assoc w R High-level resistance
pncA 2288764 p.Thr160Ala missense_variant 0.24 pyrazinamide Not assoc w R - Interim Mutation from literature
pncA 2288850 c.390_391dupGG frameshift_variant 0.27 pyrazinamide Assoc w R
pncA 2289162 p.Leu27Pro missense_variant 0.44 pyrazinamide Assoc w R
embB 4247429 p.Met306Val missense_variant 0.54 ethambutol Assoc w R
embB 4247730 p.Gly406Ala missense_variant 0.32 ethambutol Assoc w R
embB 4249583 p.Asp1024Asn missense_variant 0.21 ethambutol Uncertain significance Mutation from literature
ethA 4327454 c.10_19dupCACCTCGACG frameshift_variant 0.21 ethionamide Assoc w R
gid 4408087 c.115delC frameshift_variant 0.26 streptomycin 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 9304 p.Gly668Asp missense_variant 1.0 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
Rv0010c 13905 c.-347G>T upstream_gene_variant 0.33 isoniazid
fgd1 491742 c.960T>C synonymous_variant 1.0 pretomanid
delamanid Not assoc w R - Interim
clofazimine Not assoc w R
ccsA 620625 p.Ile245Met missense_variant 0.49 kanamycin Uncertain significance
capreomycin Not assoc w R
amikacin Not assoc w R
Rv0565c 657081 c.390G>A synonymous_variant 0.99 ethionamide Not assoc w R - Interim
Rv0565c 657142 p.Arg110His missense_variant 0.49 ethionamide Uncertain significance
rpoB 759746 c.-61C>T upstream_gene_variant 0.54 rifampicin Not assoc w R
rpoB 762434 c.2628T>G synonymous_variant 0.52 rifampicin Not assoc w R
rpoB 763031 c.3225T>C synonymous_variant 1.0 rifampicin Not assoc w R
rpoC 766488 p.Pro1040Arg missense_variant 0.4 rifampicin Uncertain significance
rpoC 767123 p.Val1252Leu missense_variant 0.19 rifampicin Uncertain significance
rpoC 767181 p.Ala1271Val missense_variant 0.46 rifampicin
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
mmpS5 779615 c.-710C>G upstream_gene_variant 0.51 bedaquiline
clofazimine
rpsL 781395 c.-165T>C upstream_gene_variant 1.0 streptomycin Not assoc w R
Rv1129c 1253456 p.Gly360Asp missense_variant 0.23 levofloxacin Uncertain significance
moxifloxacin Uncertain significance
isoniazid Uncertain significance
rifampicin Uncertain significance
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 0.47 streptomycin Uncertain significance
pyrazinamide Uncertain significance
isoniazid Uncertain significance
embR 1417753 c.-406A>C upstream_gene_variant 0.43 ethambutol
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 kanamycin
capreomycin
streptomycin
amikacin
rpsA 1834177 c.636A>C synonymous_variant 0.48 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 1.0 isoniazid Not assoc w R
PPE35 2167926 p.Leu896Ser missense_variant 1.0 pyrazinamide Not assoc w R
PPE35 2168761 p.Pro618Thr missense_variant 0.19 pyrazinamide
Rv1979c 2223293 c.-129A>G upstream_gene_variant 1.0 bedaquiline Not assoc w R - Interim
clofazimine Not assoc w R
pncA 2289047 c.195C>T synonymous_variant 0.31 pyrazinamide Not assoc w R
pncA 2289365 c.-125delC upstream_gene_variant 0.55 pyrazinamide
ahpC 2726105 c.-88G>A upstream_gene_variant 0.54 isoniazid Not assoc w R
folC 2747470 p.Ile43Ala missense_variant 0.27 para-aminosalicylic_acid
Rv2477c 2782498 c.1545C>T synonymous_variant 0.55 kanamycin Not assoc w R
levofloxacin Not assoc w R
moxifloxacin Not assoc w R
streptomycin Not assoc w R - Interim
rifampicin Not assoc w R
ethambutol Not assoc w R
amikacin Not assoc w R
Rv2752c 3065297 p.Gln299* stop_gained 0.23 levofloxacin Uncertain significance
moxifloxacin Uncertain significance
isoniazid Uncertain significance
rifampicin Uncertain significance
ethambutol Uncertain significance
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
Rv3083 3448693 p.Tyr64Asp missense_variant 0.35 ethionamide
whiB7 3569220 c.-541C>T upstream_gene_variant 0.46 kanamycin
amikacin
streptomycin
Rv3236c 3612813 p.Thr102Ala missense_variant 0.4 pyrazinamide Not assoc w R - Interim
mtrB 3625065 p.Met517Leu missense_variant 1.0 rifampicin Not assoc w R
bedaquiline Uncertain significance
mtrB 3626562 p.Pro18Ser missense_variant 0.49 rifampicin Not assoc w R
bedaquiline Uncertain significance
fbiA 3640346 c.-196delA upstream_gene_variant 0.3 pretomanid
delamanid
clofazimine
fbiA 3640457 c.-86G>C upstream_gene_variant 0.55 pretomanid
delamanid
clofazimine Uncertain significance
fbiB 3642877 p.Lys448Arg missense_variant 0.17 pretomanid
delamanid Uncertain significance
clofazimine Uncertain significance
panD 4044872 c.-591C>T upstream_gene_variant 0.53 pyrazinamide
glpK 4138622 c.1134C>T synonymous_variant 0.53 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
isoniazid Not assoc w R
streptomycin Not assoc w R - Interim
rifampicin Not assoc w R
ethambutol Not assoc w R
glpK 4139246 c.510C>T synonymous_variant 0.17 levofloxacin Not assoc w R
moxifloxacin Not assoc w R - Interim
isoniazid Not assoc w R - Interim
streptomycin Not assoc w R - Interim
rifampicin Not assoc w R
ethambutol Not assoc w R
embC 4242075 p.Arg738Gln missense_variant 0.49 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 0.54 ethambutol Not assoc w R
embA 4245014 c.1782C>G synonymous_variant 0.3 ethambutol
aftB 4267647 p.Asp397Gly missense_variant 0.41 ethambutol Not assoc w R
ethA 4326069 p.Arg469Trp missense_variant 0.4 ethionamide Uncertain significance
ethA 4326676 p.Ser266Arg missense_variant 0.51 ethionamide 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 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 4407927 p.Glu92Asp missense_variant 0.44 streptomycin Not assoc w R
gid 4408064 p.Arg47Gly missense_variant 0.28 streptomycin