TB-Profiler result

Run: ERR4872046
Summary

Run ID: ERR4872046

Sample name:

Date: 2024-04-15T11:46:58.340522

Number of reads: 4370949

Percentage reads mapped: 99.77

Median coverage: 138.0

Strain: lineage4.7

Spoligotype:

Drug-resistance: XDR-TB

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Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
lineage4.7 Euro-American (mainly T) None 1.0
lineage4 Euro-American None 1.0
Drug resistance: This table reports drug-resistance associated mutations found in known resistance genes
Drug Resistance Supporting mutations WHO confidence Comment
rifampicin rpoB p.Phe424Val Uncertain significance Mutation from literature
p.Leu430Pro Assoc w R
p.Asp435Gly Assoc w R - Interim Expert rule: Non-silent variants in RRDR of rpoB
isoniazid katG p.Ser315Thr Assoc w R High-level resistance
ethambutol embB p.Gly406Ala Assoc w R
pyrazinamide pncA p.Thr76Pro Assoc w R
streptomycin gid c.102delG Assoc w R
fluoroquinolones
moxifloxacin gyrA p.Asp94Gly Assoc w R High-level resistance
ofloxacin
levofloxacin gyrA p.Asp94Gly Assoc w R
ciprofloxacin
aminoglycosides
amikacin
capreomycin tlyA c.351dupG Assoc w R
c.585dupT Assoc w R
kanamycin
cycloserine
ethionamide ethA c.89delA Assoc w R
clofazimine
para-aminosalicylic_acid
delamanid
bedaquiline
linezolid rplC p.Cys154Arg Assoc w R
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 7582 p.Asp94Gly missense_variant 1.0 levofloxacin Assoc w R
moxifloxacin Assoc w R High-level resistance
rpoB 761076 p.Phe424Val missense_variant 1.0 rifampicin Uncertain significance Mutation from literature
rpoB 761095 p.Leu430Pro missense_variant 1.0 rifampicin Assoc w R
rpoB 761110 p.Asp435Gly missense_variant 1.0 rifampicin Assoc w R - Interim Expert rule: Non-silent variants in RRDR of rpoB
rplC 801268 p.Cys154Arg missense_variant 1.0 linezolid Assoc w R
tlyA 1918289 c.351dupG frameshift_variant 0.75 capreomycin Assoc w R
tlyA 1918523 c.585dupT frameshift_variant 0.3 capreomycin Assoc w R
katG 2155168 p.Ser315Thr missense_variant 1.0 isoniazid Assoc w R High-level resistance
pncA 2289016 p.Thr76Pro missense_variant 1.0 pyrazinamide Assoc w R
embB 4247730 p.Gly406Ala missense_variant 1.0 ethambutol Assoc w R
ethA 4327384 c.89delA frameshift_variant 1.0 ethionamide Assoc w R
gid 4408100 c.102delG frameshift_variant 1.0 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
mshA 576108 p.Ala254Gly missense_variant 0.27 ethionamide
isoniazid
Rv0565c 656579 p.Cys298Arg missense_variant 1.0 ethionamide 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
Rv1129c 1253535 p.Phe334Leu missense_variant 1.0 moxifloxacin Uncertain significance
levofloxacin Uncertain significance
rifampicin Uncertain significance
isoniazid Uncertain significance
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 streptomycin
kanamycin
capreomycin
amikacin
rrl 1474294 n.637C>G non_coding_transcript_exon_variant 1.0 capreomycin Not assoc w R
linezolid Uncertain significance
tlyA 1917972 c.33A>G synonymous_variant 1.0 capreomycin 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
ribD 2986827 c.-12G>A upstream_gene_variant 1.0 para-aminosalicylic_acid
Rv2680 2996053 c.-52_-51insCA upstream_gene_variant 0.31 capreomycin
Rv2680 2996059 c.-46C>T upstream_gene_variant 0.33 capreomycin
Rv2680 2996060 c.-45T>A upstream_gene_variant 0.33 capreomycin
Rv2680 2996104 c.-1_1insCA frameshift_variant&start_lost 0.3 capreomycin Uncertain significance
Rv2681 2996110 c.-629C>T upstream_gene_variant 0.28 capreomycin
Rv2680 2996111 p.Ser3Thr missense_variant 0.28 capreomycin
ald 3086896 c.79dupA frameshift_variant 1.0 cycloserine
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embA 4243190 c.-43G>C upstream_gene_variant 1.0 ethambutol Uncertain significance
embB 4249732 c.3219C>G synonymous_variant 1.0 ethambutol Not assoc w R
whiB6 4338595 c.-75delG upstream_gene_variant 1.0 capreomycin Not assoc w R
amikacin Not assoc w R
kanamycin Not assoc w R
gid 4408406 c.-204A>C upstream_gene_variant 1.0 streptomycin