TB-Profiler result

Run: ERR4799163
Summary

Run ID: ERR4799163

Sample name:

Date: 2024-04-16T04:53:38.865846

Number of reads: 5676793

Percentage reads mapped: 99.51

Median coverage: 154.0

Strain: lineage4.2.2.2

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
lineage4.2.2 Euro-American (Ural) None 0.98
lineage4.2 Euro-American None 0.98
lineage4 Euro-American None 1.0
lineage4.2.2.2 Euro-American (Ural) None 0.98
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
p.Thr275Ala Uncertain significance Mutation from literature
ethambutol embB p.Glu504Asp Uncertain significance Mutation from literature
pyrazinamide pncA p.Thr76Ile Assoc w R
streptomycin gid c.102delG Assoc w R
fluoroquinolones
moxifloxacin gyrA p.Ala90Val Assoc w R Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance)
ofloxacin
levofloxacin gyrA p.Ala90Val Assoc w R
ciprofloxacin
aminoglycosides
amikacin
capreomycin
kanamycin eis c.-10G>C Uncertain significance Mutation from literature
cycloserine
ethionamide ethA c.1355delG 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 7570 p.Ala90Val missense_variant 1.0 moxifloxacin Assoc w R Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance)
levofloxacin Assoc w R
rpoB 761155 p.Ser450Leu missense_variant 0.99 rifampicin Assoc w R
katG 2155168 p.Ser315Thr missense_variant 1.0 isoniazid Assoc w R High-level resistance
katG 2155289 p.Thr275Ala missense_variant 0.97 isoniazid Uncertain significance Mutation from literature
pncA 2289015 p.Thr76Ile missense_variant 0.98 pyrazinamide Assoc w R
eis 2715342 c.-10G>C upstream_gene_variant 0.99 kanamycin Uncertain significance Mutation from literature
embB 4248025 p.Glu504Asp missense_variant 0.99 ethambutol Uncertain significance Mutation from literature
ethA 4326118 c.1355delG frameshift_variant 0.98 ethionamide Assoc w R
gid 4408100 c.102delG frameshift_variant 0.99 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
gyrB 5965 c.726A>G synonymous_variant 0.99 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
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 8688 p.Ala463Ser missense_variant 0.98 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 9328 p.Ala676Val missense_variant 1.0 levofloxacin Uncertain significance
moxifloxacin Uncertain significance
mshA 576077 c.730C>T synonymous_variant 0.99 ethionamide Not assoc w R - Interim
isoniazid Not assoc w R
Rv0565c 657425 p.Gly16Ser missense_variant 0.98 ethionamide Uncertain significance
rpoB 761489 c.1683G>A synonymous_variant 0.97 rifampicin Not assoc w R
rpoC 764936 p.Gln523Glu missense_variant 0.99 rifampicin Uncertain significance
mmpL5 775639 p.Ile948Val missense_variant 1.0 clofazimine Not assoc w R
bedaquiline Not assoc w R - Interim
rpsL 781395 c.-165T>C upstream_gene_variant 1.0 streptomycin Not assoc w R
rplC 800204 c.-605T>C upstream_gene_variant 0.99 linezolid
fbiC 1305180 c.2250G>A synonymous_variant 0.99 clofazimine Not assoc w R - Interim
pretomanid
delamanid Not assoc w R - Interim
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 streptomycin
kanamycin
capreomycin
amikacin
rrs 1472753 n.908A>C non_coding_transcript_exon_variant 0.95 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
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 2063685 c.1044G>A synonymous_variant 0.98 streptomycin Not assoc w R - Interim
kanamycin Not assoc w R - Interim
capreomycin Not assoc w R
amikacin Not assoc w R
bacA 2063911 p.Ile273Thr missense_variant 0.98 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin Not assoc w R
amikacin Not assoc w R
Rv1979c 2223293 c.-129A>G upstream_gene_variant 1.0 clofazimine Not assoc w R
bedaquiline Not assoc w R - Interim
Rv2752c 3066280 c.-89C>T upstream_gene_variant 0.99 ethambutol
moxifloxacin
levofloxacin
rifampicin
isoniazid
thyA 3074077 p.Ala132Val missense_variant 0.99 para-aminosalicylic_acid
ald 3086742 c.-78A>C upstream_gene_variant 0.96 cycloserine
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
Rv3083 3448664 p.Arg54His missense_variant 0.99 ethionamide
lpqB 3623459 c.1452G>A synonymous_variant 0.99 bedaquiline Not assoc w R - Interim
rifampicin Not assoc w R - Interim
mtrB 3625065 p.Met517Leu missense_variant 0.99 bedaquiline Uncertain significance
rifampicin Not assoc w R
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embA 4243218 c.-15C>G upstream_gene_variant 0.96 ethambutol Uncertain significance
whiB6 4338513 c.9C>T synonymous_variant 0.99 capreomycin Not assoc w R - Interim
amikacin Not assoc w R - Interim
kanamycin Not assoc w R - Interim
whiB6 4338595 c.-75delG upstream_gene_variant 1.0 capreomycin Not assoc w R
amikacin Not assoc w R
kanamycin Not assoc w R
whiB6 4338732 c.-211C>T upstream_gene_variant 0.99 capreomycin
amikacin
kanamycin