TB-Profiler result

Run: a2dcf15a-3170-48e5-8d01-999e3a4f5c5e

Summary

Run ID: a2dcf15a-3170-48e5-8d01-999e3a4f5c5e

Sample name:

Date: 25-05-2023 17:35:06

Number of reads: 7220164

Percentage reads mapped: 98.7

Median coverage: 224

Strain: lineage6.3.1;lineage6.2;lineage6.1.3

Spoligotype:

Drug-resistance: Other


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Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
lineage6 West-Africa 2 RD702 1.0
lineage6.2 West-Africa 2 RD702 0.31
lineage6.3 West-Africa 2 RD702 0.35
lineage6.1.3 West-Africa 2 RD702 0.32
lineage6.3.1 West-Africa 2 RD702 0.37
Drug resistance: This table reports drug-resistance associated mutations found in known resistance genes
Drug Resistance Supporting mutations WHO confidence Comment
rifampicin
isoniazid
ethambutol embC p.Ala307Thr Uncertain significance
pyrazinamide
moxifloxacin
levofloxacin
bedaquiline
delamanid
pretomanid
linezolid
streptomycin
amikacin
kanamycin
capreomycin
clofazimine
ethionamide
para-aminosalicylic_acid
cycloserine
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
embC 4240781 p.Ala307Thr missense_variant 0.36 ethambutol Uncertain significance
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
gyrB 5072 c.-168G>T upstream_gene_variant 0.38 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrB 6446 p.Ala403Ser missense_variant 1.0 fluoroquinolones
moxifloxacin Uncertain significance
levofloxacin Uncertain significance
ciprofloxacin
ofloxacin
gyrA 7362 p.Glu21Gln missense_variant 1.0 fluoroquinolones
moxifloxacin Uncertain significance
levofloxacin Uncertain significance
ciprofloxacin
ofloxacin
gyrA 7373 p.Met24Ile missense_variant 0.33 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 7585 p.Ser95Thr missense_variant 1.0 fluoroquinolones
moxifloxacin Uncertain significance
levofloxacin Uncertain significance
ciprofloxacin
ofloxacin
gyrA 8333 c.1032C>T synonymous_variant 0.36 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 8493 p.Leu398Phe missense_variant 0.6 fluoroquinolones
moxifloxacin Uncertain significance
levofloxacin Uncertain significance
ciprofloxacin
ofloxacin
gyrA 8806 p.Asp502Gly missense_variant 0.32 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 9143 c.1842T>C synonymous_variant 1.0 fluoroquinolones
moxifloxacin
levofloxacin
ciprofloxacin
ofloxacin
gyrA 9304 p.Gly668Asp missense_variant 1.0 fluoroquinolones
moxifloxacin Uncertain significance
levofloxacin Uncertain significance
ciprofloxacin
ofloxacin
fgd1 491668 p.Lys296Glu missense_variant 1.0 delamanid Uncertain significance
fgd1 491742 c.960T>C synonymous_variant 1.0 delamanid
rpoB 760855 p.Thr350Ile missense_variant 0.35 rifampicin Uncertain significance
rpoB 760969 p.Ser388Leu missense_variant 1.0 rifampicin Uncertain significance
rpoB 761723 p.Glu639Asp missense_variant 1.0 rifampicin Uncertain significance
rpoC 763031 c.-339T>C upstream_gene_variant 1.0 rifampicin
rpoC 764731 c.1362G>T synonymous_variant 0.26 rifampicin
rpoC 766231 c.2862T>C synonymous_variant 0.34 rifampicin
mmpL5 775639 p.Ile948Val missense_variant 1.0 clofazimine Uncertain significance
bedaquiline Uncertain significance
mmpL5 776100 p.Thr794Ile missense_variant 1.0 clofazimine Uncertain significance
bedaquiline Uncertain significance
mmpL5 779469 c.-989T>C upstream_gene_variant 0.38 clofazimine
bedaquiline
rpsL 781395 c.-165T>C upstream_gene_variant 1.0 streptomycin Uncertain significance
fbiC 1302899 c.-32A>G upstream_gene_variant 1.0 delamanid Uncertain significance
Rv1258c 1406685 p.Val219Ala missense_variant 0.68 streptomycin Uncertain significance
pyrazinamide Uncertain significance
isoniazid Uncertain significance
embR 1416633 p.Leu239Val missense_variant 0.6 ethambutol Uncertain significance
atpE 1461251 c.207G>T synonymous_variant 1.0 bedaquiline
rrs 1471649 n.-197C>A upstream_gene_variant 0.37 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1472912 n.1067C>T non_coding_transcript_exon_variant 0.31 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrs 1473049 n.1205dupA non_coding_transcript_exon_variant 0.26 linezolid
kanamycin
capreomycin
amikacin
aminoglycosides
streptomycin
rrl 1473633 n.-25C>T upstream_gene_variant 0.31 linezolid
inhA 1674434 p.Val78Ala missense_variant 1.0 ethionamide Uncertain significance
isoniazid Uncertain significance
tlyA 1917972 c.33A>G synonymous_variant 0.99 capreomycin
ndh 2102694 p.Val117Ile missense_variant 0.36 ethionamide Uncertain significance
isoniazid Uncertain significance
katG 2154724 p.Arg463Leu missense_variant 1.0 isoniazid Uncertain significance
katG 2155503 c.609C>T synonymous_variant 1.0 isoniazid
PPE35 2167926 p.Leu896Ser missense_variant 1.0 pyrazinamide Uncertain significance
PPE35 2168731 p.Pro628Thr missense_variant 0.27 pyrazinamide
PPE35 2170065 p.Ala183Gly missense_variant 0.28 pyrazinamide
PPE35 2170464 p.Ala50Val missense_variant 0.34 pyrazinamide
Rv1979c 2222308 p.Asp286Gly missense_variant 1.0 clofazimine Uncertain significance
bedaquiline Uncertain significance
Rv1979c 2222852 p.Ala105Thr missense_variant 0.36 clofazimine Uncertain significance
bedaquiline Uncertain significance
Rv1979c 2223293 c.-129A>G upstream_gene_variant 1.0 clofazimine Uncertain significance
bedaquiline Uncertain significance
pncA 2288879 c.363G>A synonymous_variant 0.37 pyrazinamide
kasA 2518132 c.18C>T synonymous_variant 1.0 isoniazid
ahpC 2726265 p.Lys25* stop_gained 0.36 isoniazid
ald 3086728 c.-92C>T upstream_gene_variant 0.99 cycloserine
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
ald 3087084 c.266delA frameshift_variant 1.0 cycloserine
ald 3087412 p.Asp198Val missense_variant 0.3 cycloserine
fbiD 3339734 p.Ala206Gly missense_variant 0.64 delamanid
Rv3083 3449781 c.1278G>A synonymous_variant 0.33 ethionamide
fprA 3473996 c.-11_-10insA upstream_gene_variant 1.0 capreomycin
amikacin
fprA 3475159 p.Asn385Asp missense_variant 1.0 capreomycin Uncertain significance
amikacin Uncertain significance
whiB7 3568428 c.252A>G synonymous_variant 0.26 streptomycin
kanamycin
amikacin
Rv3236c 3612143 p.Arg325His missense_variant 0.26 pyrazinamide Uncertain significance
Rv3236c 3612800 p.Val106Ala missense_variant 0.3 pyrazinamide Uncertain significance
fbiB 3640794 c.-741A>G upstream_gene_variant 0.32 delamanid
fbiB 3641879 c.345G>A synonymous_variant 0.35 delamanid
alr 3840559 p.Arg288Ser missense_variant 0.27 cycloserine
alr 3840618 p.Asp268Gly missense_variant 0.29 cycloserine
rpoA 3877696 p.Thr271Ile missense_variant 0.25 rifampicin Uncertain significance
rpoA 3877740 c.768G>C synonymous_variant 0.35 rifampicin
rpoA 3878291 p.Val73Ile missense_variant 0.3 rifampicin Uncertain significance
embC 4240671 p.Thr270Ile missense_variant 1.0 ethambutol Uncertain significance
embC 4241843 p.Leu661Ile missense_variant 1.0 ethambutol Uncertain significance
embA 4242643 c.-590C>T upstream_gene_variant 1.0 ethambutol
embC 4242905 p.Arg1015Trp missense_variant 0.3 ethambutol
embA 4243541 c.309C>T synonymous_variant 0.33 ethambutol
embA 4244220 c.988C>T synonymous_variant 1.0 ethambutol
embA 4244379 p.Pro383Ser missense_variant 1.0 ethambutol Uncertain significance
embB 4246584 p.Arg24Pro missense_variant 0.25 ethambutol
embB 4246864 c.351C>T synonymous_variant 1.0 ethambutol
embB 4247646 p.Glu378Ala missense_variant 1.0 ethambutol Uncertain significance
embB 4248324 p.Ala604Gly missense_variant 0.24 ethambutol
aftB 4268477 c.360C>T synonymous_variant 0.37 capreomycin
amikacin
aftB 4269351 c.-515C>T upstream_gene_variant 1.0 capreomycin
amikacin
ubiA 4269387 p.Glu149Asp missense_variant 1.0 ethambutol Uncertain significance
aftB 4269522 c.-686C>T upstream_gene_variant 1.0 capreomycin
amikacin
aftB 4269606 c.-770T>C upstream_gene_variant 1.0 capreomycin
amikacin
ethA 4326465 p.Ile337Val missense_variant 1.0 ethionamide Uncertain significance
whiB6 4338595 c.-75delG upstream_gene_variant 1.0 streptomycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
whiB6 4338602 c.-81A>C upstream_gene_variant 0.26 streptomycin Uncertain significance
capreomycin
amikacin
gid 4407588 c.615A>G synonymous_variant 1.0 streptomycin
gid 4408034 p.Glu57Lys missense_variant 0.35 streptomycin Uncertain significance