Run ID: SRR25827488
Sample name:
Date: 2024-10-03T23:10:56.531536
Number of reads: 10347093
Percentage reads mapped: 98.8
Median coverage: 351.0
Strain: lineage1.2.2.2;lineage4.3.3
Spoligotype:
Drug-resistance: MDR-TB
Lineage | Family | RDs | Frequency |
---|---|---|---|
lineage4.3 | Euro-American (LAM) | None | 0.34 |
lineage1.2.2 | Indo-Oceanic | RD239 | 0.5 |
lineage1.2.2.2 | Indo-Oceanic | RD239 | 0.52 |
lineage4 | Euro-American | None | 0.35 |
lineage1 | Indo-Oceanic | RD239 | 0.5 |
lineage4.3.3 | Euro-American (LAM) | RD115 | 0.34 |
Drug | Resistance | Supporting mutations | WHO confidence | Comment |
---|---|---|---|---|
rifampicin | rpoB | p.Ser450Leu | Assoc w R | |
p.Ile491Phe | Assoc w R | |||
isoniazid | katG | p.Ser315Thr | Assoc w R | High-level resistance |
c.72_73dupTC | Assoc w R | High-level resistance | ||
ethambutol | ||||
pyrazinamide | pncA | p.Phe58Cys | Assoc w R - Interim | |
p.Ile5Ser | Assoc w R | |||
streptomycin | rpsL | p.Lys43Arg | Assoc w R | |
fluoroquinolones | ||||
moxifloxacin | ||||
ofloxacin | ||||
levofloxacin | ||||
ciprofloxacin | ||||
aminoglycosides | ||||
amikacin | ||||
capreomycin | ||||
kanamycin | ||||
cycloserine | ||||
ethionamide | ||||
clofazimine | ||||
para-aminosalicylic_acid | thyA | p.Thr22Ala | Mutation from literature | |
delamanid | ||||
bedaquiline | ||||
linezolid |
Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence | Comment |
---|---|---|---|---|---|---|---|
rpoB | 761155 | p.Ser450Leu | missense_variant | 0.69 | rifampicin | Assoc w R | |
rpoB | 761277 | p.Ile491Phe | missense_variant | 0.34 | rifampicin | Assoc w R | |
rpsL | 781687 | p.Lys43Arg | missense_variant | 0.48 | streptomycin | Assoc w R | |
katG | 2155168 | p.Ser315Thr | missense_variant | 1.0 | isoniazid | Assoc w R | High-level resistance |
katG | 2156038 | c.72_73dupTC | frameshift_variant | 0.25 | isoniazid | Assoc w R | High-level resistance |
pncA | 2289069 | p.Phe58Cys | missense_variant | 0.37 | pyrazinamide | Assoc w R - Interim | |
pncA | 2289228 | p.Ile5Ser | missense_variant | 0.12 | pyrazinamide | Assoc w R | |
thyA | 3074408 | p.Thr22Ala | missense_variant | 0.13 | para-aminosalicylic_acid | Mutation from literature |
Gene | Chromosome position | Mutation | Type | Estimated fraction | Drugs | Confidence |
---|---|---|---|---|---|---|
gyrB | 5075 | c.-165C>T | upstream_gene_variant | 0.49 | levofloxacin | |
moxifloxacin | ||||||
gyrB | 5201 | c.-39A>G | upstream_gene_variant | 0.56 | levofloxacin | Uncertain significance |
moxifloxacin | Uncertain significance | |||||
gyrB | 6112 | p.Met291Ile | missense_variant | 0.47 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
gyrB | 7158 | c.1931_1933delCCG | disruptive_inframe_deletion | 0.51 | levofloxacin | Uncertain significance |
moxifloxacin | Uncertain significance | |||||
gyrA | 7268 | c.-34C>T | upstream_gene_variant | 0.47 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
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 | 8040 | p.Gly247Ser | missense_variant | 0.38 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
gyrA | 8452 | p.Ala384Val | missense_variant | 0.5 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
gyrA | 9143 | c.1842T>C | synonymous_variant | 0.54 | 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 | 13298 | p.Ile87Met | missense_variant | 0.51 | isoniazid | Not assoc w R |
Rv0010c | 13460 | c.99T>C | synonymous_variant | 0.3 | isoniazid | Not assoc w R |
Rv0010c | 13482 | p.Ala26Val | missense_variant | 0.34 | isoniazid | Not assoc w R |
Rv0010c | 13636 | c.-78A>G | upstream_gene_variant | 0.33 | isoniazid | Uncertain significance |
Rv0010c | 13699 | c.-141A>G | upstream_gene_variant | 0.55 | isoniazid | Not assoc w R |
fgd1 | 491742 | c.960T>C | synonymous_variant | 0.66 | pretomanid | |
delamanid | Not assoc w R - Interim | |||||
clofazimine | Not assoc w R | |||||
mshA | 575907 | p.Ala187Val | missense_variant | 0.19 | isoniazid | Not assoc w R |
ethionamide | Not assoc w R | |||||
Rv0565c | 657578 | c.-108T>C | upstream_gene_variant | 0.52 | ethionamide | |
nusG | 734116 | c.-138T>C | upstream_gene_variant | 0.48 | rifampicin | Not assoc w R |
rpoB | 761276 | c.1470G>T | synonymous_variant | 0.35 | rifampicin | |
rpoB | 763031 | c.3225T>C | synonymous_variant | 0.62 | rifampicin | Not assoc w R |
rpoC | 763884 | p.Ala172Val | missense_variant | 0.47 | rifampicin | Not assoc w R |
rpoC | 763886 | c.517C>A | synonymous_variant | 0.47 | rifampicin | Not assoc w R |
rpoC | 764995 | c.1626C>G | synonymous_variant | 0.37 | rifampicin | Not assoc w R |
rpoC | 765862 | p.Phe831Leu | missense_variant | 0.32 | rifampicin | Uncertain significance |
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 | 0.66 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R | |||||
mmpS5 | 779615 | c.-710C>G | upstream_gene_variant | 0.13 | bedaquiline | |
clofazimine | ||||||
rpsL | 781241 | c.-319C>T | upstream_gene_variant | 0.45 | streptomycin | |
rpsL | 781395 | c.-165T>C | upstream_gene_variant | 1.0 | streptomycin | Not assoc w R |
rplC | 800233 | c.-576G>A | upstream_gene_variant | 0.59 | linezolid | |
rplC | 800357 | c.-452C>A | upstream_gene_variant | 0.52 | linezolid | Not assoc w R |
Rv1129c | 1254562 | c.-28T>C | upstream_gene_variant | 0.65 | levofloxacin | Not assoc w R |
moxifloxacin | Not assoc w R | |||||
isoniazid | Not assoc w R | |||||
rifampicin | Not assoc w R | |||||
Rv1258c | 1406170 | p.Gly391Arg | missense_variant | 0.49 | streptomycin | Uncertain significance |
pyrazinamide | Uncertain significance | |||||
isoniazid | Uncertain significance | |||||
Rv1258c | 1406760 | c.580_581insC | frameshift_variant | 0.16 | streptomycin | Uncertain significance |
pyrazinamide | Uncertain significance | |||||
isoniazid | Uncertain significance | |||||
embR | 1417019 | p.Cys110Tyr | missense_variant | 0.48 | ethambutol | Not assoc w R |
embR | 1417554 | c.-207C>G | upstream_gene_variant | 0.51 | ethambutol | |
embR | 1417793 | c.-446C>T | upstream_gene_variant | 0.53 | ethambutol | |
rrs | 1471659 | n.-187C>T | upstream_gene_variant | 1.0 | kanamycin | |
capreomycin | ||||||
streptomycin | ||||||
amikacin | ||||||
rrs | 1471754 | n.-92T>G | upstream_gene_variant | 0.48 | kanamycin | Uncertain significance |
capreomycin | Uncertain significance | |||||
streptomycin | Uncertain significance | |||||
amikacin | Uncertain significance | |||||
rpsA | 1834177 | c.636A>C | synonymous_variant | 0.13 | pyrazinamide | Not assoc w R - Interim |
rpsA | 1834836 | p.Met432Thr | missense_variant | 0.28 | pyrazinamide | Not assoc w R - Interim |
tsnR | 1853974 | c.369C>T | synonymous_variant | 0.49 | linezolid | Not assoc w R |
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 |
bacA | 2062922 | p.Ile603Val | missense_variant | 0.58 | kanamycin | Not assoc w R |
capreomycin | Not assoc w R | |||||
streptomycin | Not assoc w R | |||||
amikacin | Not assoc w R | |||||
ndh | 2101756 | c.1287G>T | synonymous_variant | 0.61 | isoniazid | |
delamanid | ||||||
ethionamide | ||||||
katG | 2154724 | p.Arg463Leu | missense_variant | 0.69 | isoniazid | Not assoc w R |
katG | 2156196 | c.-85C>T | upstream_gene_variant | 0.32 | isoniazid | Not assoc w R |
PPE35 | 2167926 | p.Leu896Ser | missense_variant | 0.7 | pyrazinamide | Not assoc w R |
PPE35 | 2168742 | p.Gly624Asp | missense_variant | 0.59 | pyrazinamide | Uncertain significance |
Rv1979c | 2222308 | p.Asp286Gly | missense_variant | 0.56 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R | |||||
Rv1979c | 2223293 | c.-129A>G | upstream_gene_variant | 0.99 | bedaquiline | Not assoc w R - Interim |
clofazimine | Not assoc w R | |||||
Rv1979c | 2223553 | c.-389C>A | upstream_gene_variant | 0.5 | bedaquiline | Uncertain significance |
clofazimine | Not assoc w R | |||||
kasA | 2518132 | c.18C>T | synonymous_variant | 0.5 | isoniazid | |
kasA | 2518919 | p.Gly269Ser | missense_variant | 0.33 | isoniazid | |
eis | 2714177 | p.Leu386Ile | missense_variant | 0.48 | kanamycin | Uncertain significance |
amikacin | Uncertain significance | |||||
ahpC | 2726051 | c.-142G>A | upstream_gene_variant | 0.52 | isoniazid | |
folC | 2746340 | p.Ala420Val | missense_variant | 0.42 | para-aminosalicylic_acid | |
thyX | 3067949 | c.-4C>T | upstream_gene_variant | 0.15 | para-aminosalicylic_acid | |
thyA | 3073868 | p.Thr202Ala | missense_variant | 0.32 | para-aminosalicylic_acid | |
ald | 3086788 | c.-32T>C | upstream_gene_variant | 1.0 | cycloserine | |
Rv3083 | 3448714 | p.Asp71His | missense_variant | 0.52 | ethionamide | Uncertain significance |
Rv3236c | 3612813 | p.Thr102Ala | missense_variant | 0.13 | pyrazinamide | Not assoc w R - Interim |
lpqB | 3624486 | p.Asp142Gly | missense_variant | 0.5 | rifampicin | Not assoc w R |
bedaquiline | Uncertain significance | |||||
mtrB | 3625065 | p.Met517Leu | missense_variant | 1.0 | rifampicin | Not assoc w R |
bedaquiline | Uncertain significance | |||||
mtrB | 3626467 | c.147G>A | synonymous_variant | 0.53 | rifampicin | Not assoc w R |
bedaquiline | Not assoc w R - Interim | |||||
clpC1 | 4038287 | c.2418C>T | synonymous_variant | 0.38 | pyrazinamide | Not assoc w R |
clpC1 | 4040517 | p.Val63Ala | missense_variant | 0.56 | pyrazinamide | Not assoc w R - Interim |
glpK | 4138377 | p.Val460Ala | missense_variant | 0.51 | 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 | |||||
embC | 4240671 | p.Thr270Ile | missense_variant | 0.51 | ethambutol | Not assoc w R |
embC | 4241042 | p.Asn394Asp | missense_variant | 0.47 | ethambutol | Not assoc w R |
embC | 4242643 | c.2781C>T | synonymous_variant | 1.0 | ethambutol | Not assoc w R |
embA | 4245835 | p.Leu868Arg | missense_variant | 0.16 | ethambutol | |
embA | 4245969 | p.Pro913Ser | missense_variant | 0.51 | ethambutol | Not assoc w R |
embB | 4247015 | p.Ser168Ala | missense_variant | 0.21 | ethambutol | |
embB | 4247646 | p.Glu378Ala | missense_variant | 0.56 | ethambutol | Not assoc w R |
embB | 4247847 | p.Gln445Arg | missense_variant | 0.17 | ethambutol | Uncertain significance |
ubiA | 4269387 | p.Glu149Asp | missense_variant | 0.54 | ethambutol | Not assoc w R |
ubiA | 4269606 | c.228T>C | synonymous_variant | 0.54 | ethambutol | Not assoc w R |
ethA | 4326148 | c.1326G>T | synonymous_variant | 0.5 | ethionamide | Not assoc w R - Interim |
ethA | 4326439 | p.Asn345Lys | missense_variant | 0.53 | ethionamide | Uncertain significance |
whiB6 | 4338203 | p.Arg107Cys | missense_variant | 0.65 | kanamycin | Not assoc w R |
capreomycin | Not assoc w R | |||||
amikacin | Not assoc w R | |||||
whiB6 | 4338533 | c.-12T>C | upstream_gene_variant | 0.49 | kanamycin | Uncertain significance |
capreomycin | Uncertain significance | |||||
amikacin | 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 | 4338603 | c.-82C>T | upstream_gene_variant | 0.48 | 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 | 0.63 | streptomycin | Not assoc w R |
gid | 4407873 | c.330G>T | synonymous_variant | 0.49 | streptomycin | Not assoc w R |
gid | 4407927 | p.Glu92Asp | missense_variant | 0.15 | streptomycin | Not assoc w R |
gid | 4408156 | p.Leu16Arg | missense_variant | 0.35 | streptomycin | Not assoc w R |