TB-Profiler result

Run: ERR12545823
Summary

Run ID: ERR12545823

Sample name:

Date: 2024-04-16T11:48:39.643857

Number of reads: 2716376

Percentage reads mapped: 99.76

Median coverage: 119.5

Strain: lineage4.8

Spoligotype:

Drug-resistance: RR-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
lineage4.8 Euro-American (mainly T) RD219 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.Leu449Gln Assoc w R - Interim Expert rule: Non-silent variants in RRDR of rpoB
isoniazid
ethambutol
pyrazinamide
streptomycin
fluoroquinolones
moxifloxacin
ofloxacin
levofloxacin
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
rpoB 761152 p.Leu449Gln missense_variant 0.2 rifampicin Assoc w R - Interim Expert rule: Non-silent variants in RRDR of rpoB
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
Rv0010c 13829 c.-271T>A upstream_gene_variant 0.13 isoniazid
rpoB 761710 p.Val635Asp missense_variant 0.18 rifampicin
rpoB 761713 p.Val636Asp missense_variant 0.19 rifampicin
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
fbiC 1303747 p.Thr273Ala missense_variant 1.0 clofazimine Uncertain significance
pretomanid
delamanid Uncertain significance
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 streptomycin
kanamycin
capreomycin
amikacin
rrl 1474001 n.344C>T non_coding_transcript_exon_variant 1.0 capreomycin Not assoc w R
linezolid Not assoc w R
rrl 1474425 n.768A>G non_coding_transcript_exon_variant 0.32 capreomycin
linezolid
rrl 1474428 n.771C>T non_coding_transcript_exon_variant 0.32 capreomycin
linezolid
rpsA 1833641 p.Asn34Asp missense_variant 0.11 pyrazinamide
tlyA 1917972 c.33A>G synonymous_variant 1.0 capreomycin Not assoc w R
PPE35 2170035 p.Val193Ala missense_variant 0.23 pyrazinamide Uncertain significance
PPE35 2170048 p.Leu189Val missense_variant 0.63 pyrazinamide
PPE35 2170053 p.Thr187Ser missense_variant 0.61 pyrazinamide
Rv1979c 2223293 c.-129A>G upstream_gene_variant 1.0 clofazimine Not assoc w R
bedaquiline Not assoc w R - Interim
kasA 2518348 c.234A>T synonymous_variant 0.22 isoniazid
kasA 2519057 p.Thr315Ser missense_variant 0.19 isoniazid
kasA 2519062 c.948T>G synonymous_variant 0.17 isoniazid
kasA 2519065 c.951C>A synonymous_variant 0.16 isoniazid
kasA 2519070 p.Asp319Val missense_variant 0.17 isoniazid
folC 2747556 p.Thr15Ala missense_variant 1.0 para-aminosalicylic_acid
ald 3086997 p.Thr60Gly missense_variant 0.17 cycloserine
ald 3087899 c.1080G>C synonymous_variant 1.0 cycloserine
fbiD 3339741 c.624G>T synonymous_variant 0.28 clofazimine
pretomanid
delamanid
fbiD 3339744 c.627A>C synonymous_variant 0.28 clofazimine
pretomanid
delamanid
Rv3083 3448507 c.5_*1408del frameshift_variant&stop_lost&splice_region_variant 1.0 ethionamide Uncertain significance
rpoA 3878567 c.-60C>G upstream_gene_variant 0.43 rifampicin
rpoA 3878599 c.-92C>G upstream_gene_variant 0.24 rifampicin
rpoA 3878627 c.-120T>G upstream_gene_variant 0.13 rifampicin
rpoA 3878639 c.-132C>G upstream_gene_variant 0.24 rifampicin Uncertain significance
embC 4239281 c.-582C>G upstream_gene_variant 0.12 ethambutol
embC 4239284 c.-579C>G upstream_gene_variant 0.12 ethambutol
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embB 4246544 p.Thr11Pro missense_variant 0.45 ethambutol Uncertain significance
embB 4246548 p.Pro12Gln missense_variant 0.5 ethambutol Uncertain significance
embB 4246555 c.42G>C synonymous_variant 0.47 ethambutol
embB 4246556 p.Ala15Pro missense_variant 0.47 ethambutol Uncertain significance
embB 4246563 p.Leu17Trp missense_variant 0.48 ethambutol Uncertain significance
embB 4246567 c.54G>T synonymous_variant 0.48 ethambutol 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