TB-Profiler result

Run: SRR13861146

Summary

Run ID: SRR13861146

Sample name:

Date: 2024-04-15T07:52:47.679471

Number of reads: 836069

Percentage reads mapped: 13.95

Median coverage: 29.0

Strain: lineage4.9

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
lineage4.9 Euro-American (H37Rv-like) 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.Pro439Arg 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 761122 p.Pro439Arg missense_variant 0.84 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
gyrB 5192 c.-48C>G upstream_gene_variant 1.0 levofloxacin
moxifloxacin
gyrA 8111 c.810G>C synonymous_variant 0.24 levofloxacin
moxifloxacin
gyrA 8225 c.924T>C synonymous_variant 0.18 levofloxacin
moxifloxacin
gyrA 8597 c.1296C>G synonymous_variant 0.17 levofloxacin
moxifloxacin
gyrA 8603 c.1302A>G synonymous_variant 0.18 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 8619 c.1318T>C synonymous_variant 0.2 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 8624 c.1323G>C synonymous_variant 0.21 levofloxacin
moxifloxacin
gyrA 9658 c.2357_2358insT frameshift_variant 0.97 levofloxacin
moxifloxacin
fgd1 490779 c.-4A>T upstream_gene_variant 1.0 clofazimine
pretomanid
delamanid
Rv0565c 657379 p.Arg31His missense_variant 0.97 ethionamide
rpoB 760041 p.Gly79Arg missense_variant 1.0 rifampicin
rpoB 760652 c.846C>A synonymous_variant 0.91 rifampicin
rpoB 760721 c.915C>G synonymous_variant 0.2 rifampicin
rpoB 760946 c.1140A>G synonymous_variant 0.21 rifampicin Not assoc w R - Interim
rpoB 761015 c.1209G>C synonymous_variant 0.19 rifampicin Not assoc w R - Interim
rpoB 761021 c.1215G>C synonymous_variant 0.21 rifampicin
rpoB 761027 c.1221A>G synonymous_variant 0.2 rifampicin Not assoc w R - Interim
rpoB 761036 c.1230G>C synonymous_variant 0.19 rifampicin Not assoc w R - Interim
rpoB 761037 c.1231T>C synonymous_variant 0.19 rifampicin Not assoc w R - Interim
rpoB 761051 c.1245G>T synonymous_variant 0.17 rifampicin Not assoc w R - Interim
rpoB 761054 c.1248G>C synonymous_variant 0.17 rifampicin Not assoc w R - Interim
rpoB 761057 c.1251G>C synonymous_variant 0.17 rifampicin Not assoc w R - Interim
rpoB 761060 c.1254C>G synonymous_variant 0.17 rifampicin Not assoc w R - Interim
rpoB 761063 c.1257C>G synonymous_variant 0.18 rifampicin Not assoc w R - Interim
rpoB 761094 c.1288C>T synonymous_variant 0.18 rifampicin Not assoc w R - Interim
rpoB 761097 c.1291_1292delAGinsTC synonymous_variant 0.17 rifampicin
rpoB 761102 c.1296A>G synonymous_variant 0.18 rifampicin
rpoC 765421 c.2052C>G synonymous_variant 0.25 rifampicin Not assoc w R - Interim
rpoC 765451 c.2082C>G synonymous_variant 0.27 rifampicin
rpoC 765452 c.2083_2085delGCCinsTG frameshift_variant&missense_variant 0.27 rifampicin
rpoC 765478 c.2109T>C synonymous_variant 0.29 rifampicin Not assoc w R - Interim
rpoC 765499 c.2130C>G synonymous_variant 0.26 rifampicin Not assoc w R - Interim
rpoC 765508 c.2139C>G synonymous_variant 0.25 rifampicin Not assoc w R - Interim
rpoC 765541 c.2172C>G synonymous_variant 0.24 rifampicin
rpoC 765553 c.2184C>T synonymous_variant 0.23 rifampicin Not assoc w R - Interim
rpoC 765556 c.2187G>C synonymous_variant 0.21 rifampicin
rpoC 765559 c.2190G>C synonymous_variant 0.22 rifampicin
mmpL5 775929 p.Asn851Ile missense_variant 0.88 clofazimine
bedaquiline
mmpS5 778941 c.-36A>G upstream_gene_variant 1.0 clofazimine Uncertain significance
bedaquiline Uncertain significance
rpsL 781149 c.-411C>T upstream_gene_variant 0.96 streptomycin
rpsL 781277 c.-283G>T upstream_gene_variant 1.0 streptomycin
fbiC 1303674 c.744C>G synonymous_variant 0.27 clofazimine
pretomanid
delamanid
fbiC 1303686 c.756C>G synonymous_variant 0.24 clofazimine
pretomanid
delamanid
embR 1417376 c.-29T>C upstream_gene_variant 1.0 ethambutol
rrl 1473740 n.83G>A non_coding_transcript_exon_variant 0.9 capreomycin
linezolid
rrl 1473813 n.156C>T non_coding_transcript_exon_variant 0.15 capreomycin
linezolid
rrl 1474574 n.917A>T non_coding_transcript_exon_variant 0.9 capreomycin
linezolid
rrl 1475061 n.1404C>T non_coding_transcript_exon_variant 0.19 capreomycin Uncertain significance
linezolid
rrl 1475249 n.1592T>C non_coding_transcript_exon_variant 0.21 capreomycin Uncertain significance
linezolid Uncertain significance
rrl 1475252 n.1595C>T non_coding_transcript_exon_variant 0.23 capreomycin
linezolid
rrl 1475638 n.1981C>T non_coding_transcript_exon_variant 0.2 capreomycin
linezolid
rrl 1475642 n.1985T>C non_coding_transcript_exon_variant 0.19 capreomycin
linezolid
rrl 1475657 n.2000A>G non_coding_transcript_exon_variant 0.2 capreomycin
linezolid
rrl 1475659 n.2002G>T non_coding_transcript_exon_variant 0.18 capreomycin
linezolid
rrl 1476281 n.2624T>C non_coding_transcript_exon_variant 0.2 capreomycin Uncertain significance
linezolid Uncertain significance
rpsA 1833661 c.120A>G synonymous_variant 0.21 pyrazinamide
rpsA 1833667 c.126C>G synonymous_variant 0.2 pyrazinamide
rpsA 1833724 c.183C>G synonymous_variant 0.2 pyrazinamide
rpsA 1833727 c.186G>C synonymous_variant 0.2 pyrazinamide
rpsA 1833742 c.201A>G synonymous_variant 0.21 pyrazinamide
rpsA 1833745 c.204G>C synonymous_variant 0.21 pyrazinamide
rpsA 1833787 c.246C>G synonymous_variant 0.21 pyrazinamide
rpsA 1833799 c.258C>G synonymous_variant 0.22 pyrazinamide
rpsA 1833838 c.297G>C synonymous_variant 0.18 pyrazinamide
rpsA 1833841 c.300C>G synonymous_variant 0.18 pyrazinamide
rpsA 1833928 c.387G>C synonymous_variant 0.21 pyrazinamide
rpsA 1833940 c.399C>G synonymous_variant 0.23 pyrazinamide
rpsA 1834610 p.Arg357Gly missense_variant 0.87 pyrazinamide
tsnR 1854354 p.Leu250Gln missense_variant 1.0 linezolid
ndh 2101828 c.1215C>T synonymous_variant 1.0 ethionamide
delamanid
isoniazid
PPE35 2168706 p.Ser636Phe missense_variant 1.0 pyrazinamide
pncA 2289887 c.-646A>C upstream_gene_variant 0.95 pyrazinamide
folC 2746838 p.Ala254Glu missense_variant 1.0 para-aminosalicylic_acid
Rv2477c 2783062 c.981C>G synonymous_variant 0.19 ethambutol
moxifloxacin
streptomycin
levofloxacin
kanamycin
rifampicin
amikacin
Rv2477c 2783110 c.933C>A synonymous_variant 0.22 ethambutol
moxifloxacin
streptomycin
levofloxacin
kanamycin
rifampicin
amikacin
Rv2477c 2783116 c.927T>C synonymous_variant 0.22 ethambutol
moxifloxacin
streptomycin
levofloxacin
kanamycin
rifampicin
amikacin
Rv2477c 2783140 c.903C>G synonymous_variant 0.19 ethambutol
moxifloxacin
streptomycin
levofloxacin
kanamycin
rifampicin
amikacin
Rv2477c 2783158 c.885A>G synonymous_variant 0.21 ethambutol
moxifloxacin
streptomycin
levofloxacin
kanamycin
rifampicin
amikacin
Rv2477c 2783185 c.858G>C synonymous_variant 0.21 ethambutol
moxifloxacin
streptomycin
levofloxacin
kanamycin
rifampicin
amikacin
Rv2477c 2783316 p.Thr243Ala missense_variant 0.94 ethambutol
moxifloxacin
streptomycin
levofloxacin
kanamycin
rifampicin
amikacin
Rv2477c 2783641 c.402G>C synonymous_variant 0.16 ethambutol
moxifloxacin
streptomycin
levofloxacin
kanamycin
rifampicin
amikacin
Rv2477c 2783659 c.384A>G synonymous_variant 0.18 ethambutol
moxifloxacin
streptomycin
levofloxacin
kanamycin
rifampicin
amikacin
ribD 2987500 p.Gly221Asp missense_variant 1.0 para-aminosalicylic_acid
thyX 3068082 c.-137T>C upstream_gene_variant 1.0 para-aminosalicylic_acid
fbiD 3338954 c.-164A>G upstream_gene_variant 1.0 clofazimine
pretomanid
delamanid
fbiD 3339235 p.Leu40Val missense_variant 1.0 clofazimine
pretomanid
delamanid
fbiD 3339406 p.Thr97Ala missense_variant 1.0 clofazimine
pretomanid
delamanid
Rv3083 3448625 p.Leu41Gln missense_variant 1.0 ethionamide
lpqB 3624203 c.708C>T synonymous_variant 0.89 bedaquiline
rifampicin
mtrB 3626461 c.153A>G synonymous_variant 1.0 bedaquiline
rifampicin Not assoc w R - Interim
mtrB 3626554 c.60A>T synonymous_variant 1.0 bedaquiline
rifampicin
mtrA 3627267 p.Glu28Val missense_variant 0.88 bedaquiline
rifampicin
fbiB 3642247 p.Asn238Thr missense_variant 1.0 clofazimine
pretomanid
delamanid
fbiB 3642283 p.Glu250Ala missense_variant 1.0 clofazimine
pretomanid
delamanid
rpoA 3877818 c.690A>G synonymous_variant 0.25 rifampicin Not assoc w R - Interim
rpoA 3877839 c.669G>C synonymous_variant 0.21 rifampicin Not assoc w R - Interim
rpoA 3878337 c.171T>C synonymous_variant 0.23 rifampicin Not assoc w R - Interim
rpoA 3878346 c.162T>C synonymous_variant 0.21 rifampicin
rpoA 3878968 c.-461T>G upstream_gene_variant 0.19 rifampicin
rpoA 3878989 c.-482G>C upstream_gene_variant 0.21 rifampicin
rpoA 3879037 c.-530G>C upstream_gene_variant 0.21 rifampicin
rpoA 3879040 c.-533G>C upstream_gene_variant 0.21 rifampicin
rpoA 3879049 c.-542A>G upstream_gene_variant 0.25 rifampicin
clpC1 4039268 c.1437C>G synonymous_variant 0.15 pyrazinamide
clpC1 4039388 c.1317C>A synonymous_variant 0.17 pyrazinamide
clpC1 4039391 c.1314T>G synonymous_variant 0.17 pyrazinamide
clpC1 4039483 c.1221_1222insC frameshift_variant 1.0 pyrazinamide
clpC1 4039616 c.1089G>C synonymous_variant 0.16 pyrazinamide
clpC1 4039622 c.1083C>G synonymous_variant 0.17 pyrazinamide
glpK 4139747 p.Asp3Glu missense_variant 1.0 ethambutol
moxifloxacin
streptomycin
levofloxacin
rifampicin
isoniazid
embA 4243843 c.613dupG frameshift_variant 1.0 ethambutol Uncertain significance
embA 4244833 p.Val534Ala missense_variant 1.0 ethambutol
embA 4245735 p.Ala835Ser missense_variant 0.97 ethambutol
aftB 4267994 p.Met281Ile missense_variant 1.0 ethambutol