TB-Profiler result

Run: ERR7451300
Summary

Run ID: ERR7451300

Sample name:

Date: 2024-10-05T06:07:06.447007

Number of reads: 343730

Percentage reads mapped: 96.99

Median coverage: 10.0

Strain: M.canetti

Spoligotype:

Drug-resistance: Sensitive

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Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
M.canetti M.canetti 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
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
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 5452 c.213G>A synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrB 6454 c.1215C>T synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrB 6721 c.1482C>T synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 7362 p.Glu21Gln missense_variant 1.0 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 7585 p.Ser95Thr missense_variant 1.0 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 7835 c.534A>G synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 7937 c.636A>G synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 8039 c.738T>C synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 8054 c.753T>C synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 8198 c.897T>C synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 8219 c.918T>C synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 8399 c.1098T>C synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 8756 c.1455A>G synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 8966 c.1665C>G synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 9817 c.2517_*53delANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN frameshift_variant&stop_lost&splice_region_variant 1.0 levofloxacin
moxifloxacin
Rv0010c 13460 c.99T>C synonymous_variant 1.0 isoniazid Not assoc w R
fgd1 490666 c.-117G>T upstream_gene_variant 1.0 pretomanid
delamanid
clofazimine
fgd1 490687 c.-96T>C upstream_gene_variant 1.0 pretomanid
delamanid
clofazimine
fgd1 491181 c.399T>C synonymous_variant 1.0 pretomanid
delamanid
clofazimine
fgd1 491191 p.Gly137Arg missense_variant 1.0 pretomanid
delamanid
clofazimine
fgd1 491196 c.414A>G synonymous_variant 1.0 pretomanid
delamanid
clofazimine
fgd1 491212 p.Ser144Arg missense_variant 1.0 pretomanid
delamanid
clofazimine
fgd1 491742 c.960T>C synonymous_variant 1.0 pretomanid
delamanid Not assoc w R - Interim
clofazimine Not assoc w R
mshA 575665 c.318G>C synonymous_variant 1.0 isoniazid Not assoc w R - Interim
ethionamide Not assoc w R - Interim
hadA 731852 c.-78A>G upstream_gene_variant 1.0 isoniazid
hadA 732379 c.450A>G synonymous_variant 1.0 isoniazid Not assoc w R - Interim
mmaA3 737397 c.753G>C synonymous_variant 1.0 isoniazid
mmaA3 738177 c.-28G>T upstream_gene_variant 1.0 isoniazid
rpoB 759741 c.-66C>T upstream_gene_variant 1.0 rifampicin Uncertain significance
rpoC 764152 c.783C>T synonymous_variant 1.0 rifampicin Not assoc w R - Interim
mmpL5 775639 p.Ile948Val missense_variant 1.0 bedaquiline Not assoc w R - Interim
clofazimine Not assoc w R
mmpL5 779283 c.-803G>A upstream_gene_variant 1.0 bedaquiline
clofazimine
mmpL5 779295 c.-815A>G upstream_gene_variant 1.0 bedaquiline
clofazimine
rpsL 781395 c.-165T>C upstream_gene_variant 1.0 streptomycin Not assoc w R
rpsL 781456 c.-104A>G upstream_gene_variant 1.0 streptomycin Uncertain significance
rplC 800111 c.-698C>T upstream_gene_variant 1.0 linezolid
rplC 800155 c.-654_-653insG upstream_gene_variant 1.0 linezolid
rplC 800618 c.-191T>C upstream_gene_variant 1.0 linezolid
rplC 801267 c.459A>G synonymous_variant 1.0 linezolid Not assoc w R - Interim
Rv1129c 1254602 c.-68C>T upstream_gene_variant 1.0 levofloxacin
moxifloxacin
isoniazid
rifampicin
fbiC 1303695 c.765T>C synonymous_variant 1.0 pretomanid
delamanid
clofazimine
fbiC 1304598 c.1668C>T synonymous_variant 1.0 pretomanid
delamanid
clofazimine
sigE 1364547 c.135G>A synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
Rv1258c 1406466 p.Ser292Leu missense_variant 1.0 streptomycin Uncertain significance
pyrazinamide Uncertain significance
isoniazid Uncertain significance
Rv1258c 1406492 c.849C>A synonymous_variant 1.0 streptomycin Not assoc w R - Interim
pyrazinamide Not assoc w R - Interim
isoniazid Not assoc w R - Interim
embR 1417454 c.-107C>A upstream_gene_variant 1.0 ethambutol
embR 1417554 c.-207C>G upstream_gene_variant 1.0 ethambutol
embR 1418025 c.-678G>A upstream_gene_variant 1.0 ethambutol
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 kanamycin
capreomycin
streptomycin
amikacin
rrs 1471850 n.5_6delGTinsTGG non_coding_transcript_exon_variant 1.0 kanamycin Uncertain significance
capreomycin Uncertain significance
streptomycin Uncertain significance
amikacin Uncertain significance
rrl 1474438 n.781A>G non_coding_transcript_exon_variant 1.0 capreomycin Uncertain significance
linezolid Uncertain significance
inhA 1673257 c.-945C>G upstream_gene_variant 1.0 isoniazid
ethionamide
rpsA 1834169 p.Thr210Ala missense_variant 1.0 pyrazinamide Uncertain significance
tlyA 1917606 c.-334G>C upstream_gene_variant 1.0 capreomycin
bacA 2064378 c.351C>T synonymous_variant 1.0 kanamycin Not assoc w R - Interim
capreomycin Not assoc w R - Interim
streptomycin Not assoc w R - Interim
amikacin Not assoc w R - Interim
katG 2156055 c.57C>T synonymous_variant 1.0 isoniazid Not assoc w R - Interim
katG 2156658 c.-547A>G upstream_gene_variant 1.0 isoniazid
PPE35 2169686 c.927T>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
PPE35 2169717 p.Asn299Ile missense_variant 1.0 pyrazinamide Uncertain significance
PPE35 2170232 c.381T>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
PPE35 2170394 c.219G>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
PPE35 2170485 p.Val43Ala missense_variant 1.0 pyrazinamide Uncertain significance
PPE35 2170694 c.-82T>C upstream_gene_variant 1.0 pyrazinamide Uncertain significance
PPE35 2170720 c.-108A>G upstream_gene_variant 1.0 pyrazinamide Uncertain significance
PPE35 2170847 c.-235T>C upstream_gene_variant 1.0 pyrazinamide
PPE35 2170860 c.-248A>C upstream_gene_variant 1.0 pyrazinamide
Rv1979c 2223293 c.-129A>G upstream_gene_variant 1.0 bedaquiline Not assoc w R - Interim
clofazimine Not assoc w R
Rv1979c 2223318 c.-154A>G upstream_gene_variant 1.0 bedaquiline Uncertain significance
clofazimine Uncertain significance
pncA 2289104 c.138A>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
pncA 2289700 c.-459T>C upstream_gene_variant 1.0 pyrazinamide
pncA 2289827 c.-586A>G upstream_gene_variant 1.0 pyrazinamide
kasA 2518132 c.18C>T synonymous_variant 1.0 isoniazid
Rv2477c 2783425 c.618C>T synonymous_variant 1.0 kanamycin Not assoc w R - Interim
levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
streptomycin Not assoc w R - Interim
rifampicin Not assoc w R - Interim
ethambutol Not assoc w R - Interim
amikacin Not assoc w R - Interim
ribD 2986929 p.Leu31Phe missense_variant 1.0 para-aminosalicylic_acid
Rv2680 2996440 c.336G>A synonymous_variant 1.0 capreomycin Not assoc w R - Interim
Rv2752c 3064578 c.1614C>T synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
isoniazid Not assoc w R - Interim
rifampicin Not assoc w R - Interim
ethambutol Not assoc w R - Interim
Rv2752c 3066687 c.-496G>C upstream_gene_variant 1.0 levofloxacin
moxifloxacin
isoniazid
rifampicin
ethambutol
thyA 3074238 c.234C>T synonymous_variant 1.0 para-aminosalicylic_acid
thyA 3074247 c.225C>T synonymous_variant 1.0 para-aminosalicylic_acid
ald 3087122 c.303T>C synonymous_variant 1.0 cycloserine
ald 3087140 c.321G>A synonymous_variant 1.0 cycloserine
fbiD 3339402 c.285C>T synonymous_variant 1.0 pretomanid
delamanid Not assoc w R - Interim
clofazimine Not assoc w R - Interim
Rv3083 3448349 c.-155C>T upstream_gene_variant 1.0 ethionamide
Rv3083 3448453 c.-51G>T upstream_gene_variant 1.0 ethionamide Uncertain significance
Rv3083 3448474 c.-30G>T upstream_gene_variant 1.0 ethionamide Uncertain significance
Rv3083 3448481 c.-23G>C upstream_gene_variant 1.0 ethionamide Uncertain significance
Rv3083 3448484 c.-20T>C upstream_gene_variant 1.0 ethionamide Uncertain significance
Rv3083 3448487 c.-17T>G upstream_gene_variant 1.0 ethionamide Uncertain significance
Rv3083 3448495 c.-9G>C upstream_gene_variant 1.0 ethionamide Uncertain significance
Rv3083 3448545 c.42A>G synonymous_variant 1.0 ethionamide Not assoc w R - Interim
Rv3083 3448588 p.Asp29Asn missense_variant 1.0 ethionamide Uncertain significance
Rv3083 3448606 c.103C>T synonymous_variant 1.0 ethionamide Not assoc w R - Interim
Rv3083 3448611 c.108A>G synonymous_variant 1.0 ethionamide Not assoc w R - Interim
whiB7 3568687 c.-8A>T upstream_gene_variant 1.0 kanamycin Uncertain significance
amikacin Uncertain significance
streptomycin Uncertain significance
Rv3236c 3612709 c.408G>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
mtrA 3627190 c.160T>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
bedaquiline
mtrA 3627802 c.-453T>C upstream_gene_variant 1.0 rifampicin
bedaquiline
mtrA 3627831 c.-482T>C upstream_gene_variant 1.0 rifampicin
bedaquiline
mtrA 3627839 c.-490T>C upstream_gene_variant 1.0 rifampicin
bedaquiline
fbiB 3642254 c.720G>A synonymous_variant 1.0 pretomanid
delamanid
clofazimine
fbiB 3642467 c.933T>C synonymous_variant 1.0 pretomanid
delamanid
clofazimine
fbiB 3642852 p.Pro440Ser missense_variant 1.0 pretomanid
delamanid Uncertain significance
clofazimine Uncertain significance
fbiB 3642874 p.Leu447Arg missense_variant 1.0 pretomanid
delamanid Uncertain significance
clofazimine Uncertain significance
alr 3840527 c.894A>C synonymous_variant 1.0 cycloserine
alr 3840620 c.801T>C synonymous_variant 1.0 cycloserine
alr 3840719 c.702A>G synonymous_variant 1.0 cycloserine
alr 3840796 p.Asp209Asn missense_variant 1.0 cycloserine
alr 3840994 p.His143Asp missense_variant 1.0 cycloserine
alr 3841172 c.249A>C synonymous_variant 1.0 cycloserine
alr 3841419 p.Val1Ala missense_variant 1.0 cycloserine
rpoA 3877527 c.981C>A synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoA 3877740 c.768G>A synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoA 3877886 c.622C>T synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoA 3877887 c.621G>A synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoA 3878848 c.-341C>T upstream_gene_variant 1.0 rifampicin Uncertain significance
rpoA 3879193 c.-686G>A upstream_gene_variant 1.0 rifampicin
ddn 3986910 c.67C>A synonymous_variant 1.0 pretomanid
delamanid
ddn 3987050 c.207C>T synonymous_variant 1.0 pretomanid
delamanid
clpC1 4038443 c.2262G>A synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4038746 c.1959C>T synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4038779 c.1926C>T synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4038848 c.1857C>T synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4038860 c.1845G>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4039046 c.1659C>T synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4039058 c.1647C>T synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4039094 c.1611C>T synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4039100 c.1605C>T synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4039336 c.1369C>T synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4039352 c.1353C>T synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4039448 c.1257A>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4039454 c.1251A>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4039502 c.1203C>T synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040045 c.660C>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040048 c.657C>T synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040063 c.642G>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040090 c.615T>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040093 c.612C>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040267 c.438A>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040273 c.432T>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040276 c.429C>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040279 c.426C>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040450 c.255A>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040471 c.234T>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040480 c.225T>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040534 c.171A>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040551 c.154T>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040573 c.132T>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040657 c.48T>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
panD 4043932 p.Met117Thr missense_variant 1.0 pyrazinamide Uncertain significance
panD 4044243 c.39C>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
glpK 4138377 p.Val460Ala missense_variant 1.0 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
isoniazid Not assoc w R
streptomycin Not assoc w R
rifampicin Not assoc w R
ethambutol Not assoc w R
glpK 4139183 c.572dupG frameshift_variant 1.0 levofloxacin Uncertain significance
moxifloxacin Uncertain significance
isoniazid Uncertain significance
streptomycin Uncertain significance
rifampicin Uncertain significance
ethambutol Uncertain significance
glpK 4139813 c.-58T>G upstream_gene_variant 1.0 levofloxacin
moxifloxacin
isoniazid
streptomycin
rifampicin
ethambutol
embC 4239764 c.-99G>C upstream_gene_variant 1.0 ethambutol Uncertain significance
embA 4244154 p.Thr308Pro missense_variant 1.0 ethambutol Uncertain significance
embA 4245023 c.1791A>G synonymous_variant 1.0 ethambutol Not assoc w R - Interim
embB 4247590 c.1077A>G synonymous_variant 1.0 ethambutol Not assoc w R - Interim
embB 4247646 p.Glu378Ala missense_variant 1.0 ethambutol Not assoc w R
embB 4248195 p.Lys561Met missense_variant 1.0 ethambutol Uncertain significance
embB 4248206 p.Ser565Gly missense_variant 1.0 ethambutol Uncertain significance
embB 4248439 c.1926C>T synonymous_variant 1.0 ethambutol Not assoc w R - Interim
embB 4248664 c.2151G>A synonymous_variant 1.0 ethambutol Not assoc w R - Interim
embB 4248721 c.2208C>T synonymous_variant 1.0 ethambutol Not assoc w R - Interim
embB 4248744 p.Val744Ala missense_variant 1.0 ethambutol Uncertain significance
embB 4248853 c.2340G>A synonymous_variant 1.0 ethambutol Not assoc w R - Interim
aftB 4268331 p.Gln169Pro missense_variant 1.0 ethambutol Uncertain significance
ubiA 4269387 p.Glu149Asp missense_variant 1.0 ethambutol Not assoc w R
ethA 4326463 c.1011C>T synonymous_variant 1.0 ethionamide Not assoc w R - Interim
ethA 4326740 p.Arg245His missense_variant 1.0 ethionamide Uncertain significance
ethR 4327547 c.-2_-1insA upstream_gene_variant 1.0 ethionamide Uncertain significance
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 1.0 kanamycin
capreomycin
amikacin
whiB6 4338741 c.-220A>G upstream_gene_variant 1.0 kanamycin
capreomycin
amikacin
whiB6 4338785 c.-266_-264delGGCinsAG upstream_gene_variant 1.0 kanamycin
capreomycin
amikacin
gid 4408185 c.18C>T synonymous_variant 1.0 streptomycin Not assoc w R - Interim