TB-Profiler result

Run: SRR671862
Summary

Run ID: SRR671862

Sample name:

Date: 2024-04-15T08:16:12.742666

Number of reads: 6117594

Percentage reads mapped: 99.48

Median coverage: 110.0

Strain: lineage4.4.2

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 Euro-American None 1.0
lineage4.4 Euro-American None 1.0
lineage4.4.2 Euro-American None 0.99
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.Ser315Asn Assoc w R High-level resistance
ethambutol embA c.-11C>A Uncertain significance Mutation from literature
pyrazinamide pncA c.282_*290del Assoc w R
streptomycin gid p.Lys163* Assoc w R
fluoroquinolones
moxifloxacin gyrA p.Asp89Asn Assoc w R Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance)
p.Asp94Gly Assoc w R High-level resistance
ofloxacin
levofloxacin gyrA p.Asp89Asn Assoc w R
p.Asp94Gly Assoc w R
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
gyrA 7566 p.Asp89Asn missense_variant 0.16 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
gyrA 7582 p.Asp94Gly missense_variant 0.84 moxifloxacin Assoc w R High-level resistance
levofloxacin Assoc w R
rpoB 761155 p.Ser450Leu missense_variant 1.0 rifampicin Assoc w R
katG 2155168 p.Ser315Asn missense_variant 0.98 isoniazid Assoc w R High-level resistance
pncA 2288390 c.282_*290del frameshift_variant&stop_lost&splice_region_variant 0.99 pyrazinamide Assoc w R
embA 4243222 c.-11C>A upstream_gene_variant 0.98 ethambutol Uncertain significance Mutation from literature
gid 4407716 p.Lys163* stop_gained 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
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
mshA 575503 c.156G>A synonymous_variant 0.99 ethionamide
isoniazid Not assoc w R - Interim
Rv0565c 656246 c.1224dupA frameshift_variant 0.2 ethionamide Uncertain significance
Rv0565c 656317 p.Phe385Ser missense_variant 0.7 ethionamide
mmpL5 775639 p.Ile948Val missense_variant 1.0 clofazimine Not assoc w R
bedaquiline Not assoc w R - Interim
rpsL 781326 c.-233delG upstream_gene_variant 1.0 streptomycin Uncertain significance
rpsL 781395 c.-165T>C upstream_gene_variant 1.0 streptomycin Not assoc w R
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 streptomycin
kanamycin
capreomycin
amikacin
tsnR 1853445 c.-161G>C upstream_gene_variant 1.0 linezolid
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
ndh 2102365 c.678A>C synonymous_variant 0.97 ethionamide
delamanid
isoniazid Not assoc w R - Interim
katG 2156484 c.-373A>G upstream_gene_variant 1.0 isoniazid Uncertain significance
PPE35 2169411 c.1201dupA frameshift_variant 0.96 pyrazinamide Uncertain significance
Rv1979c 2223293 c.-129A>G upstream_gene_variant 1.0 clofazimine Not assoc w R
bedaquiline Not assoc w R - Interim
Rv2752c 3066099 p.Met31Ile missense_variant 0.98 ethambutol Not assoc w R
moxifloxacin Uncertain significance
levofloxacin Uncertain significance
rifampicin Not assoc w R
isoniazid Not assoc w R - Interim
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
mtrB 3625065 p.Met517Leu missense_variant 1.0 bedaquiline Uncertain significance
rifampicin Not assoc w R
mtrB 3625342 c.1272C>G synonymous_variant 1.0 bedaquiline Not assoc w R - Interim
rifampicin Not assoc w R - Interim
embC 4238963 c.-900C>T upstream_gene_variant 0.99 ethambutol Not assoc w R
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embA 4244329 p.Ala366Glu missense_variant 0.99 ethambutol
embA 4246508 c.3276G>A synonymous_variant 0.99 ethambutol Not assoc w R
embB 4248026 p.Ala505Thr missense_variant 0.73 ethambutol Uncertain significance
aftB 4267512 p.Leu442His missense_variant 0.98 ethambutol
ubiA 4268928 c.906C>T synonymous_variant 1.0 ethambutol Not assoc w R
ubiA 4269375 c.459G>A synonymous_variant 0.97 ethambutol Not assoc w R
ethA 4326977 p.His166Pro missense_variant 0.99 ethionamide Uncertain significance
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 1.0 capreomycin
amikacin
kanamycin