Run ID: SRR1165315
Sample name:
Date: 2025-02-11T16:52:05.078367
Number of reads: 4522759
Percentage reads mapped: 99.53
Median coverage: 107.0
Strain: lineage3.1.1;lineage4.3.3
Spoligotype:
Drug-resistance: XDR-TB
Lineage | Family | RDs | Frequency |
---|---|---|---|
lineage3 | East-African-Indian | RD750 | 0.51 |
lineage4.3 | Euro-American (LAM) | None | 0.49 |
lineage3.1.1 | East-African-Indian | RD750 | 0.53 |
lineage4 | Euro-American | None | 0.47 |
lineage4.3.3 | Euro-American (LAM) | RD115 | 0.45 |
lineage3.1 | East-African-Indian | RD750 | 0.72 |
Drug | Resistance | Supporting mutations | WHO confidence | Comment |
---|---|---|---|---|
rifampicin | rpoB | p.Asp435Gly | Assoc w R - Interim | Expert rule: Non-silent variants in RRDR of rpoB |
p.Leu452Pro | Assoc w R | |||
isoniazid | inhA | c.-770T>A | Assoc w R - Interim | Alias fabG1_c.-8T>A. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) |
katG | p.Ser315Thr | Assoc w R | High-level resistance | |
ethambutol | embB | p.Met306Val | Assoc w R | |
pyrazinamide | pncA | c.456dupC | Assoc w R | |
p.Trp68Cys | Assoc w R | |||
streptomycin | gid | c.107delT | Assoc w R | |
fluoroquinolones | ||||
moxifloxacin | gyrA | p.Ala90Val | Assoc w R | Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) |
ofloxacin | ||||
levofloxacin | gyrA | p.Ala90Val | Assoc w R | |
ciprofloxacin | ||||
aminoglycosides | ||||
amikacin | rrs | n.1401A>G | Assoc w R | |
capreomycin | rrs | n.1401A>G | Assoc w R | |
kanamycin | rrs | n.1401A>G | Assoc w R | |
cycloserine | ||||
ethionamide | inhA | c.-770T>A | Assoc w R - Interim | Alias fabG1_c.-8T>A |
ethA | c.825dupG | Assoc w R | ||
c.-11A>G | Uncertain significance | Mutation from literature | ||
clofazimine | pepQ | c.816_817dupGG | Assoc w R - Interim | |
para-aminosalicylic_acid | ||||
delamanid | ||||
bedaquiline | pepQ | c.816_817dupGG | Assoc w R - Interim | Includes data from one site that only submitted resistant strains, which may have inflated the PPV |
linezolid |
Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence | Comment |
---|---|---|---|---|---|---|---|
gyrA | 7570 | p.Ala90Val | missense_variant | 0.45 | levofloxacin | Assoc w R | |
moxifloxacin | Assoc w R | Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) | |||||
rpoB | 761110 | p.Asp435Gly | missense_variant | 0.46 | rifampicin | Assoc w R - Interim | Expert rule: Non-silent variants in RRDR of rpoB |
rpoB | 761161 | p.Leu452Pro | missense_variant | 0.51 | rifampicin | Assoc w R | |
rrs | 1473246 | n.1401A>G | non_coding_transcript_exon_variant | 0.46 | amikacin | Assoc w R | |
capreomycin | Assoc w R | ||||||
kanamycin | Assoc w R | ||||||
inhA | 1673432 | c.-770T>A | upstream_gene_variant | 0.49 | ethionamide | Assoc w R - Interim | Alias fabG1_c.-8T>A |
isoniazid | Assoc w R - Interim | Alias fabG1_c.-8T>A. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) | |||||
katG | 2155168 | p.Ser315Thr | missense_variant | 1.0 | isoniazid | Assoc w R | High-level resistance |
pncA | 2288785 | c.456dupC | frameshift_variant | 0.43 | pyrazinamide | Assoc w R | |
pncA | 2289038 | p.Trp68Cys | missense_variant | 0.51 | pyrazinamide | Assoc w R | |
pepQ | 2859601 | c.816_817dupGG | frameshift_variant | 0.25 | bedaquiline | Assoc w R - Interim | Includes data from one site that only submitted resistant strains, which may have inflated the PPV |
clofazimine | Assoc w R - Interim | ||||||
embB | 4247429 | p.Met306Val | missense_variant | 0.42 | ethambutol | Assoc w R | |
ethA | 4326648 | c.825dupG | frameshift_variant | 0.18 | ethionamide | Assoc w R | |
ethA | 4327484 | c.-11A>G | upstream_gene_variant | 0.42 | ethionamide | Uncertain significance | Mutation from literature |
gid | 4408095 | c.107delT | frameshift_variant | 0.66 | streptomycin | Assoc w R |
Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence |
---|---|---|---|---|---|---|
gyrA | 7362 | p.Glu21Gln | missense_variant | 0.99 | 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 | 8040 | p.Gly247Ser | missense_variant | 0.52 | 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 | |||||
Rv0010c | 13484 | c.75T>C | synonymous_variant | 0.48 | isoniazid | Not assoc w R - Interim |
fgd1 | 491742 | c.960T>C | synonymous_variant | 0.48 | pretomanid | |
delamanid | Not assoc w R - Interim | |||||
clofazimine | Not assoc w R | |||||
Rv0565c | 657081 | c.390G>A | synonymous_variant | 0.63 | ethionamide | Not assoc w R - Interim |
rpoB | 759746 | c.-61C>T | upstream_gene_variant | 0.55 | rifampicin | Not assoc w R |
rpoB | 762434 | c.2628T>G | synonymous_variant | 0.56 | rifampicin | Not assoc w R |
rpoB | 763031 | c.3225T>C | synonymous_variant | 0.64 | rifampicin | Not assoc w R |
rpoB | 763123 | p.Ile1106Thr | missense_variant | 0.45 | rifampicin | Uncertain significance |
rpoC | 764995 | c.1626C>G | synonymous_variant | 0.43 | rifampicin | Not assoc w R |
mmpL5 | 775639 | p.Ile948Val | missense_variant | 1.0 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R | |||||
mmpL5 | 776100 | p.Thr794Ile | missense_variant | 0.57 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R | |||||
mmpL5 | 776222 | c.2258dupG | frameshift_variant | 0.1 | bedaquiline | Uncertain significance |
clofazimine | Uncertain significance | |||||
mmpL5 | 778086 | c.393_394dupGG | frameshift_variant | 0.16 | bedaquiline | Uncertain significance |
clofazimine | Uncertain significance | |||||
rpsL | 781395 | c.-165T>C | upstream_gene_variant | 1.0 | streptomycin | Not assoc w R |
Rv1129c | 1253541 | c.993dupG | frameshift_variant | 0.16 | levofloxacin | Uncertain significance |
moxifloxacin | Uncertain significance | |||||
isoniazid | Uncertain significance | |||||
rifampicin | Uncertain significance | |||||
Rv1129c | 1254562 | c.-28T>C | upstream_gene_variant | 0.41 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
isoniazid | Not assoc w R | |||||
rifampicin | Not assoc w R | |||||
embR | 1417152 | c.195dupC | frameshift_variant | 0.16 | ethambutol | Uncertain significance |
rrs | 1471659 | n.-187C>T | upstream_gene_variant | 1.0 | kanamycin | |
capreomycin | ||||||
streptomycin | ||||||
amikacin | ||||||
rrl | 1476056 | n.2399G>A | non_coding_transcript_exon_variant | 0.45 | capreomycin | Not assoc w R |
linezolid | Uncertain significance | |||||
tsnR | 1854300 | p.Leu232Pro | missense_variant | 1.0 | linezolid | Not assoc w R |
katG | 2154724 | p.Arg463Leu | missense_variant | 0.51 | isoniazid | Not assoc w R |
PPE35 | 2167926 | p.Leu896Ser | missense_variant | 0.4 | pyrazinamide | Not assoc w R |
PPE35 | 2170461 | p.Gly51Glu | missense_variant | 0.66 | pyrazinamide | Not assoc w R |
Rv1979c | 2223051 | p.Glu38Asp | missense_variant | 0.51 | bedaquiline | Uncertain significance |
clofazimine | Uncertain significance | |||||
Rv1979c | 2223293 | c.-129A>G | upstream_gene_variant | 1.0 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R | |||||
pncA | 2289047 | c.195C>T | synonymous_variant | 0.5 | pyrazinamide | Not assoc w R |
pncA | 2289365 | c.-125delC | upstream_gene_variant | 0.54 | pyrazinamide | |
kasA | 2518919 | p.Gly269Ser | missense_variant | 0.44 | isoniazid | |
ahpC | 2726105 | c.-88G>A | upstream_gene_variant | 0.57 | isoniazid | Not assoc w R |
Rv2477c | 2782498 | c.1545C>T | synonymous_variant | 0.56 | kanamycin | Not assoc w R |
levofloxacin | Not assoc w R | |||||
moxifloxacin | Not assoc w R | |||||
streptomycin | Not assoc w R - Interim | |||||
rifampicin | Not assoc w R | |||||
ethambutol | Not assoc w R | |||||
amikacin | Not assoc w R | |||||
Rv2752c | 3065824 | p.Pro123Leu | missense_variant | 0.43 | levofloxacin | Not assoc w R |
moxifloxacin | Uncertain significance | |||||
isoniazid | Not assoc w R - Interim | |||||
rifampicin | Not assoc w R | |||||
ethambutol | Not assoc w R | |||||
thyA | 3073868 | p.Thr202Ala | missense_variant | 0.48 | para-aminosalicylic_acid | |
ald | 3086788 | c.-32T>C | upstream_gene_variant | 1.0 | cycloserine | |
Rv3236c | 3612065 | c.1051dupG | frameshift_variant | 0.17 | pyrazinamide | Uncertain significance |
mtrB | 3625065 | p.Met517Leu | missense_variant | 1.0 | rifampicin | Not assoc w R |
bedaquiline | Uncertain significance | |||||
panD | 4044872 | c.-591C>T | upstream_gene_variant | 0.55 | pyrazinamide | |
glpK | 4138622 | c.1134C>T | synonymous_variant | 0.49 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
isoniazid | Not assoc w R | |||||
streptomycin | Not assoc w R - Interim | |||||
rifampicin | Not assoc w R | |||||
ethambutol | Not assoc w R | |||||
embC | 4240172 | p.Val104Met | missense_variant | 0.62 | ethambutol | Not assoc w R |
embC | 4241562 | p.Arg567His | missense_variant | 0.65 | ethambutol | Not assoc w R |
embC | 4242075 | p.Arg738Gln | missense_variant | 0.43 | ethambutol | Not assoc w R |
embC | 4242643 | c.2781C>T | synonymous_variant | 1.0 | ethambutol | Not assoc w R |
ubiA | 4269271 | p.Val188Ala | missense_variant | 0.58 | ethambutol | 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 | ||||||
gid | 4407588 | c.615A>G | synonymous_variant | 0.49 | streptomycin | Not assoc w R |
gid | 4408156 | p.Leu16Arg | missense_variant | 0.48 | streptomycin | Not assoc w R |