Run ID: SRR18715441
Sample name:
Date: 2024-10-04T04:14:42.858793
Number of reads: 5533835
Percentage reads mapped: 99.02
Median coverage: 160.0
Strain: lineage5.1.2
Spoligotype:
Drug-resistance: MDR-TB
Lineage | Family | RDs | Frequency |
---|---|---|---|
lineage5.1.2 | West-Africa 1 | RD711 | 1.0 |
lineage5 | West-Africa 1 | RD711 | 1.0 |
lineage5.1 | West-Africa 1 | RD711 | 0.97 |
Drug | Resistance | Supporting mutations | WHO confidence | Comment |
---|---|---|---|---|
rifampicin | rpoB | p.Leu430Pro | Assoc w R | |
isoniazid | inhA | c.-777C>T | Assoc w R | Alias fabG1_c.-15C>T. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) |
ethambutol | embB | p.Met306Ile | Assoc w R | |
pyrazinamide | pncA | p.Gln10Arg | Assoc w R | |
streptomycin | rrs | n.514A>C | Assoc w R | |
fluoroquinolones | ||||
moxifloxacin | ||||
ofloxacin | ||||
levofloxacin | ||||
ciprofloxacin | ||||
aminoglycosides | ||||
amikacin | ||||
capreomycin | ||||
kanamycin | ||||
cycloserine | ||||
ethionamide | inhA | c.-777C>T | Assoc w R | Alias fabG1_c.-15C>T |
ethA | c.341delA | Assoc w R | ||
clofazimine | ||||
para-aminosalicylic_acid | ||||
delamanid | ||||
bedaquiline | ||||
linezolid |
Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence | Comment |
---|---|---|---|---|---|---|---|
rpoB | 761095 | p.Leu430Pro | missense_variant | 1.0 | rifampicin | Assoc w R | |
rrs | 1472359 | n.514A>C | non_coding_transcript_exon_variant | 1.0 | streptomycin | Assoc w R | |
inhA | 1673425 | c.-777C>T | upstream_gene_variant | 1.0 | ethionamide | Assoc w R | Alias fabG1_c.-15C>T |
isoniazid | Assoc w R | Alias fabG1_c.-15C>T. Low-level resistance (multiple, genetically linked low-level resistance mutations are additive and confer high-level resistance) | |||||
pncA | 2289213 | p.Gln10Arg | missense_variant | 1.0 | pyrazinamide | Assoc w R | |
embB | 4247431 | p.Met306Ile | missense_variant | 1.0 | ethambutol | Assoc w R | |
ethA | 4327132 | c.341delA | frameshift_variant | 1.0 | ethionamide | Assoc w R |
Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence |
---|---|---|---|---|---|---|
gyrB | 6446 | p.Ala403Ser | missense_variant | 1.0 | levofloxacin | Not assoc w R |
moxifloxacin | Uncertain significance | |||||
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 | 9143 | c.1842T>C | synonymous_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 | 9566 | c.2265C>T | synonymous_variant | 1.0 | levofloxacin | Not assoc w R - Interim |
moxifloxacin | Not assoc w R - Interim | |||||
Rv0010c | 13460 | c.99T>C | synonymous_variant | 1.0 | isoniazid | Not assoc w R |
Rv0010c | 13579 | c.-21G>A | upstream_gene_variant | 1.0 | isoniazid | Uncertain significance |
fgd1 | 491742 | c.960T>C | synonymous_variant | 1.0 | pretomanid | |
delamanid | Not assoc w R - Interim | |||||
clofazimine | Not assoc w R | |||||
ccsA | 619715 | c.-176C>T | upstream_gene_variant | 1.0 | kanamycin | |
capreomycin | ||||||
amikacin | ||||||
Rv0565c | 657578 | c.-108T>C | upstream_gene_variant | 1.0 | ethionamide | |
hadA | 731750 | c.-180G>C | upstream_gene_variant | 1.0 | isoniazid | |
rpoB | 763031 | c.3225T>C | synonymous_variant | 1.0 | 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 | 1.0 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R | |||||
mmpR5 | 779060 | p.Gly24Asp | missense_variant | 1.0 | bedaquiline | |
clofazimine | ||||||
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 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
isoniazid | Not assoc w R | |||||
rifampicin | Not assoc w R | |||||
fbiC | 1302899 | c.-32A>G | upstream_gene_variant | 1.0 | pretomanid | |
delamanid | Uncertain significance | |||||
clofazimine | Uncertain significance | |||||
Rv1258c | 1407273 | p.Asp23Val | missense_variant | 1.0 | streptomycin | Uncertain significance |
pyrazinamide | Uncertain significance | |||||
isoniazid | Uncertain significance | |||||
Rv1258c | 1407282 | p.Ala20Asp | missense_variant | 1.0 | streptomycin | |
pyrazinamide | ||||||
isoniazid | ||||||
embR | 1417554 | c.-207C>G | upstream_gene_variant | 1.0 | ethambutol | |
rrs | 1471659 | n.-187C>T | upstream_gene_variant | 1.0 | kanamycin | |
capreomycin | ||||||
streptomycin | ||||||
amikacin | ||||||
inhA | 1673338 | c.-864G>A | upstream_gene_variant | 1.0 | isoniazid | |
ethionamide | ||||||
inhA | 1674475 | p.Val92Leu | missense_variant | 1.0 | isoniazid | |
ethionamide | ||||||
tsnR | 1853565 | c.-41G>A | upstream_gene_variant | 1.0 | linezolid | 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 | 1918410 | p.Phe157Leu | missense_variant | 1.0 | capreomycin | |
bacA | 2062922 | p.Ile603Val | missense_variant | 1.0 | kanamycin | Not assoc w R |
capreomycin | Not assoc w R | |||||
streptomycin | Not assoc w R | |||||
amikacin | Not assoc w R | |||||
ndh | 2101921 | c.1122G>A | synonymous_variant | 1.0 | isoniazid | Not assoc w R - Interim |
delamanid | Not assoc w R - Interim | |||||
ethionamide | Not assoc w R - Interim | |||||
ndh | 2103112 | c.-70G>T | upstream_gene_variant | 1.0 | isoniazid | Not assoc w R - Interim |
delamanid | Uncertain significance | |||||
ethionamide | Uncertain significance | |||||
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 | 2170265 | c.347delG | frameshift_variant | 1.0 | pyrazinamide | Uncertain significance |
Rv1979c | 2223293 | c.-129A>G | upstream_gene_variant | 1.0 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R | |||||
pncA | 2290062 | c.-821G>A | upstream_gene_variant | 1.0 | pyrazinamide | |
kasA | 2518132 | c.18C>T | synonymous_variant | 1.0 | isoniazid | |
ahpC | 2726261 | c.69G>T | synonymous_variant | 1.0 | isoniazid | Not assoc w R - Interim |
ald | 3087084 | c.266delA | frameshift_variant | 1.0 | cycloserine | |
ald | 3087184 | c.368_373delCCGACG | disruptive_inframe_deletion | 1.0 | cycloserine | |
Rv3083 | 3449644 | p.Ala381Thr | missense_variant | 1.0 | ethionamide | Uncertain significance |
lpqB | 3624350 | c.561G>T | synonymous_variant | 0.99 | rifampicin | Not assoc w R |
bedaquiline | Not assoc w R - Interim | |||||
lpqB | 3624486 | p.Asp142Gly | missense_variant | 1.0 | rifampicin | Not assoc w R |
bedaquiline | Uncertain significance | |||||
mtrB | 3625065 | p.Met517Leu | missense_variant | 1.0 | rifampicin | Not assoc w R |
bedaquiline | Uncertain significance | |||||
alr | 3840932 | c.489C>T | synonymous_variant | 1.0 | cycloserine | |
rpoA | 3878493 | c.15G>A | synonymous_variant | 1.0 | rifampicin | Not assoc w R - Interim |
ddn | 3986987 | c.144G>T | synonymous_variant | 1.0 | pretomanid | |
delamanid | Not assoc w R - Interim | |||||
ddn | 3987180 | p.Asp113Asn | missense_variant | 1.0 | pretomanid | |
delamanid | Uncertain significance | |||||
clpC1 | 4040501 | c.204C>T | synonymous_variant | 1.0 | pyrazinamide | Not assoc w R - Interim |
clpC1 | 4040824 | c.-120C>T | upstream_gene_variant | 1.0 | pyrazinamide | |
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 | 4139131 | p.Glu209Lys | missense_variant | 1.0 | levofloxacin | Uncertain significance |
moxifloxacin | Uncertain significance | |||||
isoniazid | Uncertain significance | |||||
streptomycin | Uncertain significance | |||||
rifampicin | Not assoc w R | |||||
ethambutol | Uncertain significance | |||||
embC | 4239843 | c.-20A>C | upstream_gene_variant | 1.0 | ethambutol | Not assoc w R - Interim |
embC | 4240671 | p.Thr270Ile | missense_variant | 1.0 | ethambutol | Not assoc w R |
embC | 4242643 | c.2781C>T | synonymous_variant | 1.0 | ethambutol | Not assoc w R |
embA | 4243218 | c.-15C>G | upstream_gene_variant | 1.0 | ethambutol | Uncertain significance |
embA | 4244220 | c.988C>T | synonymous_variant | 0.99 | ethambutol | Not assoc w R |
embA | 4244635 | p.Val468Ala | missense_variant | 1.0 | ethambutol | Not assoc w R - Interim |
embA | 4245147 | p.Pro639Ser | missense_variant | 1.0 | ethambutol | Not assoc w R - Interim |
embB | 4247646 | p.Glu378Ala | missense_variant | 1.0 | ethambutol | Not assoc w R |
ubiA | 4269387 | p.Glu149Asp | missense_variant | 1.0 | ethambutol | Not assoc w R |
ubiA | 4269606 | c.228T>C | synonymous_variant | 0.99 | ethambutol | Not assoc w R |
ethA | 4326928 | c.546C>T | synonymous_variant | 1.0 | ethionamide | Not assoc w R - Interim |
ethA | 4327103 | p.Gly124Asp | missense_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 | ||||||
gid | 4407588 | c.615A>G | synonymous_variant | 1.0 | streptomycin | Not assoc w R |