TB-Profiler result

Run: ERR502504
Summary

Run ID: ERR502504

Sample name:

Date: 2024-10-04T16:33:55.285645

Number of reads: 3784761

Percentage reads mapped: 99.37

Median coverage: 81.0

Strain: lineage4.1.3;lineage6.2.1

Spoligotype:

Drug-resistance: HR-TB

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Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
lineage4.1.3 Euro-American None 0.58
lineage6.2 West-Africa 2 RD702 0.39
lineage4.1 Euro-American None 0.61
lineage4 Euro-American None 0.58
lineage6.2.1 West-Africa 2 RD702 0.47
lineage6 West-Africa 2 RD702 0.43
Drug resistance: This table reports drug-resistance associated mutations found in known resistance genes
Drug Resistance Supporting mutations WHO confidence Comment
rifampicin
isoniazid inhA c.-154G>A Assoc w R Alias fabG1_p.Leu203Leu. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance)
katG p.Ser315Thr Assoc w R High-level resistance
ethambutol
pyrazinamide
streptomycin gid p.Leu79Ser Uncertain significance Mutation from literature
fluoroquinolones
moxifloxacin
ofloxacin
levofloxacin
ciprofloxacin
aminoglycosides
amikacin
capreomycin
kanamycin
cycloserine
ethionamide inhA c.-154G>A Assoc w R - Interim Alias fabG1_p.Leu203Leu
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
inhA 1674048 c.-154G>A upstream_gene_variant 0.49 ethionamide Assoc w R - Interim Alias fabG1_p.Leu203Leu
isoniazid Assoc w R Alias fabG1_p.Leu203Leu. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance)
katG 2155168 p.Ser315Thr missense_variant 0.55 isoniazid Assoc w R High-level resistance
gid 4407967 p.Leu79Ser missense_variant 0.57 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
gyrB 5072 c.-168G>T upstream_gene_variant 0.35 levofloxacin
moxifloxacin
gyrB 6446 p.Ala403Ser missense_variant 0.47 levofloxacin Not assoc w R
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 8493 p.Leu398Phe missense_variant 0.4 levofloxacin Uncertain significance
moxifloxacin Uncertain significance
gyrA 9143 c.1842T>C synonymous_variant 0.36 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
gyrA 9557 c.2256G>C synonymous_variant 0.66 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
Rv0010c 13460 c.99T>C synonymous_variant 0.26 isoniazid Not assoc w R
Rv0010c 13482 p.Ala26Val missense_variant 0.28 isoniazid Not assoc w R
fgd1 491668 p.Lys296Glu missense_variant 0.48 pretomanid
delamanid Uncertain significance
clofazimine Uncertain significance
fgd1 491742 c.960T>C synonymous_variant 0.47 pretomanid
delamanid Not assoc w R - Interim
clofazimine Not assoc w R
Rv0565c 656432 p.Gly347Ser missense_variant 0.31 ethionamide Uncertain significance
Rv0565c 657269 p.Ser68Pro missense_variant 0.65 ethionamide Uncertain significance
Rv0565c 657578 c.-108T>C upstream_gene_variant 0.48 ethionamide
rpoB 760969 p.Ser388Leu missense_variant 0.5 rifampicin Not assoc w R
rpoB 761723 p.Glu639Asp missense_variant 0.45 rifampicin Not assoc w R
rpoB 763031 c.3225T>C synonymous_variant 0.37 rifampicin Not assoc w R
rpoC 765150 p.Gly594Glu 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 0.51 bedaquiline Not assoc w R - Interim
clofazimine Not assoc w R
rpsL 781395 c.-165T>C upstream_gene_variant 1.0 streptomycin Not assoc w R
rpsL 781421 c.-139C>A upstream_gene_variant 0.63 streptomycin Uncertain significance
Rv1129c 1254562 c.-28T>C upstream_gene_variant 0.4 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
isoniazid Not assoc w R
rifampicin Not assoc w R
Rv1129c 1254607 c.-73G>C upstream_gene_variant 0.47 levofloxacin
moxifloxacin
isoniazid
rifampicin
fbiC 1302899 c.-32A>G upstream_gene_variant 0.27 pretomanid
delamanid Uncertain significance
clofazimine Uncertain significance
fbiC 1304610 c.1680C>T synonymous_variant 0.58 pretomanid
delamanid Not assoc w R - Interim
clofazimine Not assoc w R - Interim
Rv1258c 1406685 p.Val219Ala missense_variant 0.36 streptomycin Uncertain significance
pyrazinamide Uncertain significance
isoniazid Uncertain significance
embR 1416633 p.Leu239Val missense_variant 0.4 ethambutol Uncertain significance
embR 1417554 c.-207C>G upstream_gene_variant 0.32 ethambutol
atpE 1461251 c.207G>T synonymous_variant 0.47 bedaquiline Not assoc w R - Interim
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 kanamycin
capreomycin
streptomycin
amikacin
inhA 1674434 p.Val78Ala missense_variant 0.41 isoniazid Not assoc w R
ethionamide Uncertain significance
tsnR 1854245 p.Ala214Ser missense_variant 0.36 linezolid
tsnR 1854300 p.Leu232Pro missense_variant 1.0 linezolid Not assoc w R
tlyA 1917882 c.-58G>A upstream_gene_variant 0.42 capreomycin
tlyA 1917972 c.33A>G synonymous_variant 1.0 capreomycin Not assoc w R
bacA 2062922 p.Ile603Val missense_variant 0.44 kanamycin Not assoc w R
capreomycin Not assoc w R
streptomycin Not assoc w R
amikacin Not assoc w R
bacA 2063121 c.1608A>T synonymous_variant 0.41 kanamycin Not assoc w R - Interim
capreomycin Not assoc w R - Interim
streptomycin Not assoc w R - Interim
amikacin Not assoc w R - Interim
katG 2154724 p.Arg463Leu missense_variant 0.4 isoniazid Not assoc w R
katG 2155503 c.609C>T synonymous_variant 0.41 isoniazid Not assoc w R
PPE35 2167926 p.Leu896Ser missense_variant 0.46 pyrazinamide Not assoc w R
PPE35 2169269 c.1340_1344delGCCAAinsT frameshift_variant&missense_variant 0.37 pyrazinamide Uncertain significance
Rv1979c 2222308 p.Asp286Gly missense_variant 0.57 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 0.5 isoniazid
Rv2477c 2783007 p.Arg346Cys missense_variant 0.43 kanamycin Uncertain significance
levofloxacin Uncertain significance
moxifloxacin Uncertain significance
streptomycin Uncertain significance
rifampicin Uncertain significance
ethambutol Uncertain significance
amikacin Uncertain significance
ald 3086728 c.-92C>T upstream_gene_variant 0.33 cycloserine
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
ald 3087084 c.266delA frameshift_variant 0.43 cycloserine
Rv3236c 3612800 p.Val106Ala missense_variant 0.43 pyrazinamide Uncertain significance
lpqB 3623291 c.1620C>A synonymous_variant 0.63 rifampicin Not assoc w R - Interim
bedaquiline Not assoc w R - Interim
lpqB 3624350 c.561G>T synonymous_variant 0.54 rifampicin Not assoc w R
bedaquiline Not assoc w R - Interim
lpqB 3624486 p.Asp142Gly missense_variant 0.38 rifampicin Not assoc w R
bedaquiline Uncertain significance
lpqB 3624660 p.Ala84Gly missense_variant 0.49 rifampicin Uncertain significance
bedaquiline Uncertain significance
mtrB 3625065 p.Met517Leu missense_variant 1.0 rifampicin Not assoc w R
bedaquiline Uncertain significance
lpqB 3625459 c.-549C>T upstream_gene_variant 0.43 rifampicin
bedaquiline
alr 3840559 p.Arg288Ser missense_variant 0.32 cycloserine
alr 3840618 p.Asp268Gly missense_variant 0.34 cycloserine
glpK 4138377 p.Val460Ala missense_variant 0.53 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
glpK 4139183 c.572dupG frameshift_variant 0.42 levofloxacin Uncertain significance
moxifloxacin Uncertain significance
isoniazid Uncertain significance
streptomycin Uncertain significance
rifampicin Uncertain significance
ethambutol Uncertain significance
embC 4240671 p.Thr270Ile missense_variant 0.49 ethambutol Not assoc w R
embC 4241843 p.Leu661Ile missense_variant 0.39 ethambutol Not assoc w R
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embC 4242803 p.Val981Leu missense_variant 0.5 ethambutol Not assoc w R
embA 4243541 c.309C>T synonymous_variant 0.37 ethambutol Not assoc w R - Interim
embA 4244220 c.988C>T synonymous_variant 0.59 ethambutol Not assoc w R
embA 4244379 p.Pro383Ser missense_variant 0.44 ethambutol Not assoc w R
embB 4246864 c.351C>T synonymous_variant 0.44 ethambutol Not assoc w R
embB 4247646 p.Glu378Ala missense_variant 0.46 ethambutol Not assoc w R
ubiA 4269351 c.483C>T synonymous_variant 0.39 ethambutol Not assoc w R
ubiA 4269387 p.Glu149Asp missense_variant 0.41 ethambutol Not assoc w R
ubiA 4269522 c.312C>T synonymous_variant 0.34 ethambutol Not assoc w R
ubiA 4269606 c.228T>C synonymous_variant 0.43 ethambutol Not assoc w R
ethA 4326465 p.Ile337Val missense_variant 0.39 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 0.44 streptomycin Not assoc w R