TB-Profiler result

Run: SRR29274180
Summary

Run ID: SRR29274180

Sample name:

Date: 2025-02-11T16:47:38.647752

Number of reads: 3564389

Percentage reads mapped: 99.53

Median coverage: 116.0

Strain: lineage4.1.2.1;lineage4.8

Spoligotype:

Drug-resistance: MDR-TB

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Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
lineage4.1 Euro-American None 0.88
lineage4.1.2 Euro-American None 0.89
lineage4.1.2.1 Euro-American (Haarlem) RD182 0.88
lineage4 Euro-American None 1.0
lineage4.8 Euro-American (mainly T) RD219 0.12
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 inhA c.-777C>T Assoc w R Alias fabG1_c.-15C>T. 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 embA c.-12C>T Uncertain significance Mutation from literature
embB p.Asp354Ala Assoc w R
pyrazinamide pncA p.Ala146Val Assoc w R
p.Tyr34* Assoc w R
streptomycin gid p.Gln125* Assoc w R
fluoroquinolones
moxifloxacin
ofloxacin
levofloxacin
ciprofloxacin
aminoglycosides
amikacin
capreomycin
kanamycin
cycloserine
ethionamide inhA c.-777C>T Assoc w R Alias fabG1_c.-15C>T
ethA c.1391dupA Assoc w R
p.Glu311* 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
rpoB 761155 p.Ser450Leu missense_variant 1.0 rifampicin Assoc w R
inhA 1673425 c.-777C>T upstream_gene_variant 0.13 ethionamide Assoc w R Alias fabG1_c.-15C>T
isoniazid Assoc w R Alias fabG1_c.-15C>T. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance)
katG 2155168 p.Ser315Thr missense_variant 1.0 isoniazid Assoc w R High-level resistance
pncA 2288805 p.Ala146Val missense_variant 0.15 pyrazinamide Assoc w R
pncA 2289140 p.Tyr34* stop_gained 0.89 pyrazinamide Assoc w R
embA 4243221 c.-12C>T upstream_gene_variant 0.92 ethambutol Uncertain significance Mutation from literature
embB 4247574 p.Asp354Ala missense_variant 0.88 ethambutol Assoc w R
ethA 4326082 c.1391dupA frameshift_variant 0.17 ethionamide Assoc w R
ethA 4326543 p.Glu311* stop_gained 0.81 ethionamide Assoc w R
gid 4407830 p.Gln125* stop_gained 0.2 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
dnaA 371 p.Pro124Leu missense_variant 0.19 isoniazid Not assoc w R
gyrA 7362 p.Glu21Gln missense_variant 1.0 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 7585 p.Ser95Thr missense_variant 0.87 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 9304 p.Gly668Asp missense_variant 0.88 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
Rv0010c 13543 p.Trp6Arg missense_variant 0.13 isoniazid Uncertain significance
fgd1 491591 p.Lys270Met missense_variant 0.89 pretomanid
delamanid Uncertain significance
clofazimine Not assoc w R
mshA 575679 p.Asn111Ser missense_variant 0.88 isoniazid Not assoc w R
ethionamide Not assoc w R
Rv0565c 657269 p.Ser68Pro missense_variant 0.85 ethionamide Uncertain significance
rpoB 760115 c.309C>T synonymous_variant 0.85 rifampicin Not assoc w R
rpoC 764819 p.Trp484Gly missense_variant 0.16 rifampicin Uncertain significance
rpoC 764822 p.Asp485Tyr missense_variant 0.84 rifampicin Uncertain significance
rpoC 765008 p.Leu547Val missense_variant 0.14 rifampicin Uncertain significance
rpoC 765150 p.Gly594Glu missense_variant 0.89 rifampicin Not assoc w R
mmpL5 775639 p.Ile948Val missense_variant 1.0 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
atpE 1460992 c.-53A>C upstream_gene_variant 0.15 bedaquiline
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 kanamycin
capreomycin
streptomycin
amikacin
tsnR 1854300 p.Leu232Pro missense_variant 0.9 linezolid Not assoc w R
tlyA 1917972 c.33A>G synonymous_variant 1.0 capreomycin Not assoc w R
Rv1979c 2223233 c.-69G>C upstream_gene_variant 0.86 bedaquiline Uncertain significance
clofazimine Uncertain significance
Rv1979c 2223293 c.-129A>G upstream_gene_variant 1.0 bedaquiline Not assoc w R - Interim
clofazimine Not assoc w R
kasA 2518076 c.-39C>T upstream_gene_variant 0.86 isoniazid
Rv2680 2996085 c.-20G>A upstream_gene_variant 0.52 capreomycin Uncertain significance
Rv2680 2996136 p.Ser11Asn missense_variant 0.14 capreomycin
ald 3086788 c.-32T>C upstream_gene_variant 0.92 cycloserine
Rv3236c 3613388 c.-272C>G upstream_gene_variant 0.8 pyrazinamide
mtrB 3625065 p.Met517Leu missense_variant 0.82 rifampicin Not assoc w R
bedaquiline Uncertain significance
alr 3840764 c.657G>C synonymous_variant 0.2 cycloserine
embC 4239298 c.-565C>T upstream_gene_variant 0.87 ethambutol Not assoc w R
embC 4241539 c.1677T>C synonymous_variant 0.89 ethambutol Not assoc w R - Interim
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embC 4242803 p.Val981Leu missense_variant 0.95 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 0.83 kanamycin
capreomycin
amikacin
gid 4408093 p.Gly37Ala missense_variant 0.87 streptomycin Uncertain significance