TB-Profiler result

Run: ERR4797037

Summary

Run ID: ERR4797037

Sample name:

Date: 2024-04-15T01:58:43.050540

Number of reads: 2837129

Percentage reads mapped: 91.36

Median coverage: 81.0

Strain: lineage3.1.2

Spoligotype:

Drug-resistance: Pre-XDR-TB


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Lineage Table: The lineage is inferred by analysing lineage specific SNPs
Lineage Family RDs Frequency
lineage3 East-African-Indian RD750 0.99
lineage3.1.2 East-African-Indian RD750 1.0
lineage3.1 East-African-Indian RD750 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.Ser450Leu Assoc w R
isoniazid katG p.Ser315Thr Assoc w R High-level resistance
ethambutol embA c.-16C>T Uncertain significance Mutation from literature
embB p.Met306Ile Assoc w R
pyrazinamide pncA p.Gly108Arg Assoc w R
streptomycin rpsL p.Lys43Arg 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
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
gyrA 7582 p.Asp94Gly missense_variant 0.98 moxifloxacin Assoc w R High-level resistance
levofloxacin Assoc w R
rpoB 761155 p.Ser450Leu missense_variant 0.94 rifampicin Assoc w R
rpsL 781687 p.Lys43Arg missense_variant 0.94 streptomycin Assoc w R
katG 2155168 p.Ser315Thr missense_variant 1.0 isoniazid Assoc w R High-level resistance
pncA 2288920 p.Gly108Arg missense_variant 1.0 pyrazinamide Assoc w R
embA 4243217 c.-16C>T upstream_gene_variant 1.0 ethambutol Uncertain significance Mutation from literature
embB 4247431 p.Met306Ile missense_variant 0.98 ethambutol 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
gyrA 7585 p.Ser95Thr missense_variant 1.0 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 9304 p.Gly668Asp missense_variant 1.0 levofloxacin Not assoc w R
moxifloxacin Not assoc w R
gyrA 9308 c.2007C>T synonymous_variant 0.12 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 9317 c.2016G>T synonymous_variant 0.12 levofloxacin
moxifloxacin
gyrA 9323 c.2022C>G synonymous_variant 0.12 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
gyrA 9335 c.2034G>C synonymous_variant 0.13 levofloxacin
moxifloxacin
gyrA 9758 c.2457C>T synonymous_variant 1.0 levofloxacin Not assoc w R - Interim
moxifloxacin Not assoc w R - Interim
Rv0010c 13605 c.-47G>T upstream_gene_variant 1.0 isoniazid Uncertain significance
fgd1 491742 c.960T>C synonymous_variant 1.0 clofazimine Not assoc w R
pretomanid
delamanid Not assoc w R - Interim
Rv0565c 657081 c.390G>A synonymous_variant 1.0 ethionamide Not assoc w R - Interim
rpoB 759746 c.-61C>T upstream_gene_variant 1.0 rifampicin Not assoc w R
rpoB 760982 c.1176G>C synonymous_variant 0.14 rifampicin Not assoc w R - Interim
rpoB 760985 c.1179G>C synonymous_variant 0.14 rifampicin Not assoc w R - Interim
rpoB 760988 c.1182C>G synonymous_variant 0.13 rifampicin Not assoc w R - Interim
rpoB 760991 c.1185G>C synonymous_variant 0.13 rifampicin
rpoB 761006 c.1200C>G synonymous_variant 0.13 rifampicin Not assoc w R - Interim
rpoB 761015 c.1209G>C synonymous_variant 0.13 rifampicin Not assoc w R - Interim
rpoB 761027 c.1221A>G synonymous_variant 0.12 rifampicin Not assoc w R - Interim
rpoB 762434 c.2628T>G synonymous_variant 1.0 rifampicin Not assoc w R
rpoB 763031 c.3225T>C synonymous_variant 1.0 rifampicin Not assoc w R
rpoC 764140 c.771C>T synonymous_variant 0.13 rifampicin Not assoc w R - Interim
rpoC 764266 c.897T>C synonymous_variant 0.12 rifampicin
rpoC 764338 c.969G>A synonymous_variant 0.16 rifampicin Not assoc w R - Interim
rpoC 764353 c.984G>C synonymous_variant 0.22 rifampicin
rpoC 764365 c.996C>T synonymous_variant 0.17 rifampicin Not assoc w R - Interim
rpoC 764380 c.1011G>C synonymous_variant 0.12 rifampicin Not assoc w R - Interim
rpoC 764554 c.1185C>T synonymous_variant 0.18 rifampicin
rpoC 764560 c.1191T>C synonymous_variant 0.17 rifampicin Not assoc w R - Interim
rpoC 764566 c.1197C>G synonymous_variant 0.17 rifampicin Not assoc w R - Interim
rpoC 764575 c.1206T>G synonymous_variant 0.17 rifampicin Not assoc w R - Interim
rpoC 764581 c.1212T>C synonymous_variant 0.16 rifampicin
rpoC 764593 c.1224C>T synonymous_variant 0.13 rifampicin
rpoC 765982 c.2613C>G synonymous_variant 0.14 rifampicin
rpoC 765994 c.2625A>T synonymous_variant 0.13 rifampicin Not assoc w R - Interim
rpoC 766774 c.3405T>C synonymous_variant 0.14 rifampicin
rpoC 766801 c.3432C>G synonymous_variant 0.14 rifampicin
rpoC 766804 c.3435A>G synonymous_variant 0.14 rifampicin Not assoc w R - Interim
rpoC 766864 c.3495G>C synonymous_variant 0.12 rifampicin
rpoC 766972 c.3603G>C synonymous_variant 0.18 rifampicin
rpoC 766996 c.3627C>T synonymous_variant 0.18 rifampicin Not assoc w R - Interim
rpoC 767009 c.3640_3642delTCGinsAGC synonymous_variant 0.18 rifampicin
rpoC 767014 c.3645G>C synonymous_variant 0.17 rifampicin
rpoC 767033 c.3664_3666delTCGinsAGT synonymous_variant 0.18 rifampicin
rpoC 767059 c.3690T>G synonymous_variant 0.18 rifampicin Not assoc w R - Interim
rpoC 767062 c.3693C>A synonymous_variant 0.18 rifampicin
rpoC 767098 c.3729T>C synonymous_variant 0.13 rifampicin Not assoc w R - Interim
mmpL5 775639 p.Ile948Val missense_variant 1.0 clofazimine Not assoc w R
bedaquiline Not assoc w R - Interim
mmpL5 776100 p.Thr794Ile 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 1254562 c.-28T>C upstream_gene_variant 1.0 moxifloxacin Not assoc w R
levofloxacin Not assoc w R
rifampicin Not assoc w R
isoniazid Not assoc w R
rrs 1471659 n.-187C>T upstream_gene_variant 1.0 streptomycin
kanamycin
capreomycin
amikacin
rrl 1474970 n.1313G>A non_coding_transcript_exon_variant 0.12 capreomycin
linezolid
rrl 1475006 n.1349A>T non_coding_transcript_exon_variant 0.13 capreomycin
linezolid
rrl 1475061 n.1404C>T non_coding_transcript_exon_variant 0.13 capreomycin Uncertain significance
linezolid
rrl 1475369 n.1712G>T non_coding_transcript_exon_variant 0.14 capreomycin
linezolid
rrl 1475419 n.1762C>T non_coding_transcript_exon_variant 0.14 capreomycin Uncertain significance
linezolid
rrl 1475436 n.1779C>T non_coding_transcript_exon_variant 0.16 capreomycin
linezolid
rrl 1475505 n.1848G>A non_coding_transcript_exon_variant 0.12 capreomycin Uncertain significance
linezolid
rrl 1475881 n.2224T>C non_coding_transcript_exon_variant 0.16 capreomycin
linezolid
rrl 1475988 n.2331A>G non_coding_transcript_exon_variant 0.12 capreomycin Not assoc w R
linezolid Uncertain significance
inhA 1674102 c.-100C>A upstream_gene_variant 0.99 ethionamide Uncertain significance
isoniazid Uncertain significance
tsnR 1854300 p.Leu232Pro missense_variant 1.0 linezolid Not assoc w R
tlyA 1917972 c.33A>G synonymous_variant 1.0 capreomycin Not assoc w R
tlyA 1918104 c.165G>A synonymous_variant 1.0 capreomycin Not assoc w R - Interim
katG 2154724 p.Arg463Leu missense_variant 1.0 isoniazid Not assoc w R
PPE35 2167926 p.Leu896Ser missense_variant 1.0 pyrazinamide Not assoc w R
PPE35 2168604 p.Pro670Leu missense_variant 0.99 pyrazinamide 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
pncA 2289047 c.195C>T synonymous_variant 1.0 pyrazinamide Not assoc w R
pncA 2289365 c.-125delC upstream_gene_variant 1.0 pyrazinamide
ahpC 2726105 c.-88G>A upstream_gene_variant 1.0 isoniazid Not assoc w R
Rv2477c 2782498 c.1545C>T synonymous_variant 0.97 ethambutol Not assoc w R
moxifloxacin Not assoc w R
streptomycin Not assoc w R - Interim
levofloxacin Not assoc w R
kanamycin Not assoc w R
rifampicin Not assoc w R
amikacin Not assoc w R
thyA 3074247 p.His75Gln missense_variant 0.99 para-aminosalicylic_acid
ald 3086788 c.-32T>C upstream_gene_variant 1.0 cycloserine
mtrB 3625065 p.Met517Leu missense_variant 1.0 bedaquiline Uncertain significance
rifampicin Not assoc w R
rpoA 3877949 p.Thr187Ala missense_variant 0.93 rifampicin Uncertain significance
clpC1 4040675 c.30C>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
panD 4044872 c.-591C>T upstream_gene_variant 1.0 pyrazinamide
glpK 4138622 c.1134C>T synonymous_variant 1.0 ethambutol Not assoc w R
moxifloxacin Not assoc w R
streptomycin Not assoc w R - Interim
levofloxacin Not assoc w R
rifampicin Not assoc w R
isoniazid Not assoc w R
embC 4242075 p.Arg738Gln missense_variant 1.0 ethambutol Not assoc w R
embC 4242643 c.2781C>T synonymous_variant 1.0 ethambutol Not assoc w R
embB 4248220 c.1707A>C synonymous_variant 0.14 ethambutol
embB 4248304 c.1791G>C synonymous_variant 0.13 ethambutol
embB 4248316 c.1803C>G synonymous_variant 0.14 ethambutol
embB 4248319 c.1806A>G synonymous_variant 0.14 ethambutol
ethA 4327298 p.Met59Arg missense_variant 1.0 ethionamide Uncertain significance
whiB6 4338595 c.-75delG upstream_gene_variant 1.0 capreomycin Not assoc w R
amikacin Not assoc w R
kanamycin Not assoc w R
whiB6 4338732 c.-211C>T upstream_gene_variant 1.0 capreomycin
amikacin
kanamycin
gid 4407588 c.615A>G synonymous_variant 1.0 streptomycin Not assoc w R