TB-Profiler result

Run: ERR7821193
Summary

Run ID: ERR7821193

Sample name:

Date: 2024-10-05T07:26:21.899698

Number of reads: 2445967

Percentage reads mapped: 88.95

Median coverage: 90.0

Strain: lineage2.2.1

Spoligotype:

Drug-resistance: Other

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Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
lineage2 East-Asian RD105 1.0
lineage2.2.1 East-Asian (Beijing) RD105;RD207;RD181 0.99
lineage2.2 East-Asian (Beijing) RD105;RD207 1.0
Drug resistance: This table reports drug-resistance associated mutations found in known resistance genes
Drug Resistance Supporting mutations WHO confidence Comment
rifampicin
isoniazid
ethambutol
pyrazinamide
streptomycin rrs n.462C>T Uncertain significance Mutation from literature
fluoroquinolones
moxifloxacin
ofloxacin
levofloxacin
ciprofloxacin
aminoglycosides
amikacin
capreomycin
kanamycin
cycloserine
ethionamide
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
rrs 1472307 n.462C>T non_coding_transcript_exon_variant 0.15 streptomycin 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
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
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 0.99 isoniazid Not assoc w R
ethionamide Not assoc w R
ccsA 620625 p.Ile245Met missense_variant 1.0 kanamycin Uncertain significance
capreomycin Not assoc w R
amikacin Not assoc w R
Rv0565c 657081 c.390G>A synonymous_variant 1.0 ethionamide Not assoc w R - Interim
Rv0565c 657142 p.Arg110His missense_variant 0.98 ethionamide Uncertain significance
rpoB 760340 c.534G>T synonymous_variant 0.13 rifampicin Not assoc w R - Interim
rpoB 760361 c.555T>C synonymous_variant 0.14 rifampicin Not assoc w R - Interim
rpoB 760370 c.564C>G synonymous_variant 0.14 rifampicin
rpoB 760376 p.Asp190Glu missense_variant 0.14 rifampicin Uncertain significance
rpoB 760380 p.Thr192Leu missense_variant 0.15 rifampicin
rpoB 760475 c.669A>G synonymous_variant 0.16 rifampicin Not assoc w R - Interim
rpoB 760481 c.675G>C synonymous_variant 0.14 rifampicin Not assoc w R - Interim
rpoB 760484 c.678A>G synonymous_variant 0.16 rifampicin Not assoc w R - Interim
rpoB 760519 p.Thr238Ser missense_variant 0.14 rifampicin
rpoB 760522 p.Ser239Asn missense_variant 0.13 rifampicin Uncertain significance
rpoB 760532 c.726T>C synonymous_variant 0.13 rifampicin Not assoc w R - Interim
rpoB 760533 p.Val243Thr missense_variant 0.13 rifampicin
rpoB 760547 c.741G>T synonymous_variant 0.14 rifampicin
rpoB 760563 p.Arg253Met missense_variant 0.14 rifampicin Uncertain significance
rpoB 760591 p.Val262Ala missense_variant 0.16 rifampicin
rpoB 760611 c.805T>C synonymous_variant 0.15 rifampicin Not assoc w R - Interim
rpoB 760919 c.1113C>G synonymous_variant 0.12 rifampicin
rpoB 760925 c.1119T>C synonymous_variant 0.13 rifampicin
rpoB 762065 c.2259T>C synonymous_variant 0.14 rifampicin Not assoc w R - Interim
rpoB 762101 c.2295C>G synonymous_variant 0.13 rifampicin Not assoc w R - Interim
rpoB 762140 c.2334G>C synonymous_variant 0.13 rifampicin
rpoB 762143 c.2337T>C synonymous_variant 0.13 rifampicin
rpoB 762149 c.2343G>C synonymous_variant 0.13 rifampicin Not assoc w R - Interim
rpoB 763031 c.3225T>C synonymous_variant 1.0 rifampicin Not assoc w R
rpoC 766582 c.3213C>G synonymous_variant 0.13 rifampicin
rpoC 766583 p.Gly1072Ser missense_variant 0.13 rifampicin
rpoC 766597 c.3228C>G synonymous_variant 0.12 rifampicin Not assoc w R - Interim
rpoC 766607 p.Ile1080Leu missense_variant 0.13 rifampicin
rpoC 766657 c.3288A>G synonymous_variant 0.14 rifampicin
rpoC 766804 c.3435A>G synonymous_variant 0.14 rifampicin Not assoc w R - Interim
rpoC 766861 c.3492G>C synonymous_variant 0.15 rifampicin Not assoc w R - Interim
rpoC 766885 c.3516G>C synonymous_variant 0.15 rifampicin
rpoC 766894 c.3525T>C synonymous_variant 0.16 rifampicin
rpoC 766895 c.3526T>C synonymous_variant 0.15 rifampicin
rpoC 766900 c.3531T>C synonymous_variant 0.16 rifampicin
rpoC 766915 p.Asp1182Glu missense_variant 0.14 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
mmpL5 776182 p.Asp767Asn missense_variant 1.0 bedaquiline Not assoc w R
clofazimine Not assoc w R
mmpS5 779615 c.-710C>G upstream_gene_variant 1.0 bedaquiline
clofazimine
rpsL 781395 c.-165T>C upstream_gene_variant 1.0 streptomycin 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 1.0 streptomycin Uncertain significance
pyrazinamide Uncertain significance
isoniazid Uncertain significance
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 kanamycin
capreomycin
streptomycin
amikacin
rrl 1474639 n.982G>A non_coding_transcript_exon_variant 0.13 capreomycin Uncertain significance
linezolid Uncertain significance
rrl 1475199 n.1542G>A non_coding_transcript_exon_variant 0.12 capreomycin
linezolid
rpsA 1833979 c.438T>C synonymous_variant 0.14 pyrazinamide
rpsA 1834177 c.636A>C synonymous_variant 1.0 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 0.99 isoniazid Not assoc w R
PPE35 2167926 p.Leu896Ser missense_variant 1.0 pyrazinamide 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
Rv2477c 2783158 c.885A>C synonymous_variant 0.15 kanamycin Not assoc w R - Interim
levofloxacin Not assoc w R - Interim
moxifloxacin
streptomycin
rifampicin Not assoc w R - Interim
ethambutol Not assoc w R - Interim
amikacin Not assoc w R - Interim
Rv2477c 2783182 c.861C>G synonymous_variant 0.19 kanamycin
levofloxacin
moxifloxacin
streptomycin
rifampicin
ethambutol
amikacin
Rv2477c 2783194 c.849A>G synonymous_variant 0.19 kanamycin
levofloxacin
moxifloxacin
streptomycin
rifampicin
ethambutol
amikacin
Rv2477c 2783230 c.813T>G synonymous_variant 0.21 kanamycin
levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
streptomycin Not assoc w R - Interim
rifampicin Not assoc w R - Interim
ethambutol Not assoc w R - Interim
amikacin
Rv2477c 2783254 c.789A>G synonymous_variant 0.17 kanamycin
levofloxacin
moxifloxacin
streptomycin
rifampicin
ethambutol
amikacin
Rv2477c 2783263 c.780G>C synonymous_variant 0.16 kanamycin
levofloxacin
moxifloxacin
streptomycin
rifampicin
ethambutol
amikacin
Rv2477c 2783278 c.765A>G synonymous_variant 0.16 kanamycin
levofloxacin
moxifloxacin
streptomycin
rifampicin
ethambutol
amikacin
Rv2477c 2783287 c.756C>G synonymous_variant 0.17 kanamycin
levofloxacin
moxifloxacin
streptomycin
rifampicin
ethambutol
amikacin
Rv2477c 2783299 c.744A>G synonymous_variant 0.15 kanamycin
levofloxacin
moxifloxacin
streptomycin
rifampicin
ethambutol
amikacin
Rv2477c 2783302 c.741A>G synonymous_variant 0.15 kanamycin
levofloxacin
moxifloxacin
streptomycin
rifampicin
ethambutol
amikacin
Rv2477c 2783311 c.732T>C synonymous_variant 0.14 kanamycin
levofloxacin
moxifloxacin
streptomycin
rifampicin
ethambutol
amikacin
Rv2477c 2783314 c.729C>G synonymous_variant 0.13 kanamycin
levofloxacin
moxifloxacin
streptomycin Not assoc w R - Interim
rifampicin Not assoc w R - Interim
ethambutol Not assoc w R - Interim
amikacin
Rv2477c 2783628 p.Ala139Ser missense_variant 0.13 kanamycin
levofloxacin
moxifloxacin
streptomycin
rifampicin
ethambutol
amikacin
Rv2477c 2783629 c.414C>T synonymous_variant 0.13 kanamycin
levofloxacin
moxifloxacin
streptomycin
rifampicin
ethambutol
amikacin
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
Rv3236c 3612813 p.Thr102Ala missense_variant 1.0 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 1.0 rifampicin Not assoc w R
bedaquiline Uncertain significance
rpoA 3877692 c.816G>C synonymous_variant 0.13 rifampicin Not assoc w R - Interim
glpK 4138606 c.1150T>C synonymous_variant 0.14 levofloxacin
moxifloxacin
isoniazid
streptomycin
rifampicin
ethambutol
glpK 4138607 c.1149G>C synonymous_variant 0.13 levofloxacin
moxifloxacin
isoniazid
streptomycin
rifampicin
ethambutol
glpK 4138654 c.1102C>T synonymous_variant 0.13 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
isoniazid Not assoc w R - Interim
streptomycin Not assoc w R - Interim
rifampicin Not assoc w R - Interim
ethambutol Not assoc w R - Interim
glpK 4138670 c.1086G>C synonymous_variant 0.13 levofloxacin
moxifloxacin
isoniazid
streptomycin
rifampicin
ethambutol
embC 4242643 c.2781C>T synonymous_variant 0.99 ethambutol Not assoc w R
embA 4243460 c.228C>T synonymous_variant 1.0 ethambutol Not assoc w R
aftB 4267647 p.Asp397Gly missense_variant 1.0 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 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 1.0 streptomycin Not assoc w R
gid 4407927 p.Glu92Asp missense_variant 1.0 streptomycin Not assoc w R