TB-Profiler result

Run: SRR28351417
Summary

Run ID: SRR28351417

Sample name:

Date: 2024-10-05T12:10:21.446451

Number of reads: 8005823

Percentage reads mapped: 99.95

Median coverage: 226.0

Strain: lineage4.2.1;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
lineage4.2 Euro-American None 0.7
lineage4 Euro-American None 1.0
lineage4.8 Euro-American (mainly T) RD219 0.25
lineage4.2.1 Euro-American (TUR) None 0.65
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 embB p.Ser297Ala Uncertain significance Mutation from literature
pyrazinamide
streptomycin rpsL p.Lys88Arg Assoc w R
fluoroquinolones
moxifloxacin
ofloxacin
levofloxacin
ciprofloxacin
aminoglycosides
amikacin
capreomycin
kanamycin eis c.-12C>T Assoc w R
cycloserine
ethionamide inhA c.-777C>T Assoc w R Alias fabG1_c.-15C>T
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 0.67 rifampicin Assoc w R
rpsL 781822 p.Lys88Arg missense_variant 0.65 streptomycin Assoc w R
inhA 1673425 c.-777C>T upstream_gene_variant 0.68 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 0.73 isoniazid Assoc w R High-level resistance
eis 2715344 c.-12C>T upstream_gene_variant 0.6 kanamycin Assoc w R
embB 4247402 p.Ser297Ala missense_variant 0.69 ethambutol 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 0.73 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 9304 p.Gly668Asp missense_variant 0.67 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
fgd1 491247 c.465C>T synonymous_variant 0.62 pretomanid
delamanid Not assoc w R - Interim
clofazimine Not assoc w R - Interim
ccsA 619969 p.Val27Ile missense_variant 0.64 kanamycin Uncertain significance
capreomycin Not assoc w R - Interim
amikacin Not assoc w R
Rv0565c 656265 c.1204_1205delAC frameshift_variant 0.22 ethionamide Uncertain significance
nusG 734658 c.405A>G synonymous_variant 0.22 rifampicin Not assoc w R
rpoC 764817 p.Val483Gly missense_variant 0.64 rifampicin Uncertain significance
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
rplC 800204 c.-605T>C upstream_gene_variant 0.75 linezolid
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 kanamycin
capreomycin
streptomycin
amikacin
rrl 1474001 n.344C>T non_coding_transcript_exon_variant 0.21 capreomycin Not assoc w R
linezolid Not assoc w R
tsnR 1854300 p.Leu232Pro missense_variant 0.72 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 0.63 kanamycin Not assoc w R - Interim
capreomycin Not assoc w R
streptomycin Not assoc w R - Interim
amikacin Not assoc w R
bacA 2063911 p.Ile273Thr missense_variant 0.54 kanamycin Uncertain significance
capreomycin Not assoc w R
streptomycin Uncertain significance
amikacin Not assoc w R
PPE35 2168149 p.Pro822Ser missense_variant 0.24 pyrazinamide Not assoc w R
PPE35 2168247 p.Leu789Arg missense_variant 0.22 pyrazinamide Uncertain significance
PPE35 2169879 p.Phe245Cys missense_variant 0.77 pyrazinamide Uncertain significance
Rv1979c 2223293 c.-129A>G upstream_gene_variant 1.0 bedaquiline Not assoc w R - Interim
clofazimine Not assoc w R
pncA 2289952 c.-711C>G upstream_gene_variant 0.22 pyrazinamide
Rv2680 2995848 c.-257G>A upstream_gene_variant 0.36 capreomycin
ald 3086742 c.-78A>C upstream_gene_variant 0.67 cycloserine
ald 3086788 c.-32T>C upstream_gene_variant 0.71 cycloserine
Rv3236c 3613636 c.-520A>G upstream_gene_variant 0.29 pyrazinamide Not assoc w R
lpqB 3623222 c.1689A>G synonymous_variant 0.68 rifampicin Not assoc w R - Interim
bedaquiline Not assoc w R - Interim
mtrB 3625065 p.Met517Leu missense_variant 0.73 rifampicin Not assoc w R
bedaquiline Uncertain significance
rpoA 3878783 c.-276C>T upstream_gene_variant 0.29 rifampicin Uncertain significance
clpC1 4039729 p.Asp326Asn missense_variant 0.23 pyrazinamide Not assoc w R
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embB 4249594 c.3081G>A synonymous_variant 0.71 ethambutol Not assoc w R - Interim
ethA 4326632 p.His281Pro missense_variant 0.65 ethionamide Uncertain significance
ethA 4328376 c.-903G>C upstream_gene_variant 0.7 ethionamide
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 0.79 kanamycin
capreomycin
amikacin