TB-Profiler result

Run: ERR4817204
Summary

Run ID: ERR4817204

Sample name:

Date: 2024-04-16T12:34:33.498627

Number of reads: 47592

Percentage reads mapped: 2.52

Median coverage: 0.0

Strain: lineage4.9

Spoligotype:

Drug-resistance: Other

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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
isoniazid
ethambutol
pyrazinamide
streptomycin
fluoroquinolones
moxifloxacin
ofloxacin
levofloxacin
ciprofloxacin
aminoglycosides
amikacin rrs n.1402C>A Uncertain significance Mutation from literature
n.1484G>T Assoc w R
capreomycin rrs n.1402C>A Uncertain significance Mutation from literature
n.1484G>T Assoc w R
kanamycin rrs n.1402C>A Uncertain significance Mutation from literature
n.1484G>T Assoc w R
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
rrs 1473247 n.1402C>A non_coding_transcript_exon_variant 0.97 kanamycin Uncertain significance Mutation from literature
amikacin Uncertain significance Mutation from literature
capreomycin Uncertain significance Mutation from literature
rrs 1473329 n.1484G>T non_coding_transcript_exon_variant 1.0 capreomycin Assoc w R
kanamycin Assoc w R
amikacin 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
rpoB 761013 c.1207_1209delGTGinsAC frameshift_variant&missense_variant 1.0 rifampicin
rpoB 761027 c.1221A>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 761036 c.1230G>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 761037 c.1231T>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 761046 c.1240_1242delATCinsGG frameshift_variant&missense_variant 1.0 rifampicin
rpoB 761051 c.1245G>A synonymous_variant 1.0 rifampicin
rpoB 761054 c.1248G>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 761057 c.1251G>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 761084 c.1278C>A synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 761557 p.Ala584Gly missense_variant 0.91 rifampicin Uncertain significance
rpoB 761562 c.1756_1758delGCGinsTC frameshift_variant&missense_variant 1.0 rifampicin
rpoB 761565 p.Met587Leu missense_variant 1.0 rifampicin
rpoB 761570 c.1764T>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 761579 c.1773G>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 761600 c.1794T>A synonymous_variant 1.0 rifampicin
rpoB 761612 c.1806G>T synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 762863 c.3057T>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 762879 p.Met1025Leu missense_variant 1.0 rifampicin Uncertain significance
rpoB 762899 c.3093G>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 762920 c.3114C>T synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 762923 c.3117C>G synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 762929 c.3123G>T synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 762959 c.3153G>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 762962 c.3156C>T synonymous_variant 0.97 rifampicin Not assoc w R - Interim
rpoC 762983 c.-387C>A upstream_gene_variant 1.0 rifampicin
rpoB 762989 c.3183G>T synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 762995 c.3189G>T synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoB 763075 p.Thr1090Ile missense_variant 1.0 rifampicin
rpoB 763077 c.3271_3273delGTCinsCG frameshift_variant&missense_variant 1.0 rifampicin
rpoB 763094 c.3288G>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 763103 c.-267G>C upstream_gene_variant 1.0 rifampicin
rpoB 763126 p.Pro1107Gln missense_variant 1.0 rifampicin
rpoC 763142 c.-228C>G upstream_gene_variant 1.0 rifampicin
rpoC 763148 c.-222G>C upstream_gene_variant 1.0 rifampicin
rpoC 763160 c.-210G>C upstream_gene_variant 1.0 rifampicin
rpoB 763161 p.Leu1119Ile missense_variant 1.0 rifampicin
rpoC 764326 c.957G>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764365 c.996C>T synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764371 c.1002G>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764377 c.1008C>G synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764380 c.1011G>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764381 c.1012_1013delTCinsAG synonymous_variant 1.0 rifampicin
rpoC 764387 c.1018T>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764405 c.1036_1038delAGGinsCC frameshift_variant&missense_variant 1.0 rifampicin
rpoC 764605 c.1236G>T synonymous_variant 1.0 rifampicin
rpoC 764611 c.1242G>C synonymous_variant 1.0 rifampicin
rpoC 764626 c.1257C>T synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764632 c.1263T>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764650 c.1281G>T synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764660 c.1291_1293delGTGinsAC frameshift_variant&missense_variant 1.0 rifampicin
rpoC 764706 p.Leu446Gln missense_variant 1.0 rifampicin Uncertain significance
rpoC 764740 p.Met457Ile missense_variant 1.0 rifampicin
rpoC 764746 c.1377G>C synonymous_variant 1.0 rifampicin
rpoC 764750 c.1381_1383delGTGinsAC frameshift_variant&missense_variant 1.0 rifampicin
rpoC 764758 c.1389C>G synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764760 p.Asn464Ser missense_variant 1.0 rifampicin
rpoC 764764 c.1395T>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764767 c.1398G>T synonymous_variant 1.0 rifampicin
rpoC 764780 p.Ser471Ala missense_variant 1.0 rifampicin
rpoC 764803 c.1434C>T synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764804 p.Gln479Ser missense_variant 1.0 rifampicin
rpoC 764812 c.1443C>G synonymous_variant 1.0 rifampicin
rpoC 764815 c.1446A>G synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764824 c.1455T>C synonymous_variant 1.0 rifampicin Not assoc w R - Interim
rpoC 764833 c.1464A>G synonymous_variant 1.0 rifampicin
rpoC 764837 p.Val490Ile missense_variant 1.0 rifampicin Uncertain significance
rpoC 764843 p.Ala492Arg missense_variant 1.0 rifampicin
rpsL 781766 c.207C>T synonymous_variant 1.0 streptomycin Not assoc w R - Interim
rpsL 781802 c.243G>C synonymous_variant 1.0 streptomycin
rpsL 781805 c.246G>C synonymous_variant 1.0 streptomycin
rpsL 781811 c.252C>T synonymous_variant 1.0 streptomycin
rpsL 781814 c.255C>T synonymous_variant 1.0 streptomycin
rpsL 781817 c.258G>T synonymous_variant 1.0 streptomycin
rpsL 781829 c.270G>T synonymous_variant 1.0 streptomycin
rrs 1472172 n.327T>C non_coding_transcript_exon_variant 1.0 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin Not assoc w R
amikacin Not assoc w R
rrs 1472225 n.380C>A non_coding_transcript_exon_variant 1.0 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin Not assoc w R
amikacin Uncertain significance
rrs 1472240 n.395G>A non_coding_transcript_exon_variant 1.0 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
rrs 1473121 n.1276T>C non_coding_transcript_exon_variant 1.0 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin Not assoc w R
amikacin Not assoc w R
rrs 1473122 n.1277T>A non_coding_transcript_exon_variant 1.0 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin Not assoc w R
amikacin Not assoc w R
rrs 1473145 n.1300C>T non_coding_transcript_exon_variant 1.0 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
rrs 1473147 n.1302G>A non_coding_transcript_exon_variant 1.0 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin
amikacin Uncertain significance
rrs 1473164 n.1319C>T non_coding_transcript_exon_variant 1.0 streptomycin Uncertain significance
kanamycin
capreomycin
amikacin
rrs 1473166 n.1321G>A non_coding_transcript_exon_variant 1.0 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
rrs 1473276 n.1431A>G non_coding_transcript_exon_variant 1.0 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
rrs 1473290 n.1445C>T non_coding_transcript_exon_variant 1.0 streptomycin
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
rrs 1473292 n.1447_1450delGGAGinsTGGAA non_coding_transcript_exon_variant 1.0 streptomycin
kanamycin
capreomycin
amikacin
rrs 1473301 n.1456T>C non_coding_transcript_exon_variant 1.0 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
rrs 1473319 n.1474C>T non_coding_transcript_exon_variant 1.0 streptomycin Uncertain significance
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin Uncertain significance
rrs 1473324 n.1479G>A non_coding_transcript_exon_variant 1.0 streptomycin
kanamycin Uncertain significance
capreomycin Uncertain significance
amikacin
rrl 1474632 n.975G>T non_coding_transcript_exon_variant 1.0 capreomycin Uncertain significance
linezolid Uncertain significance
rrl 1476160 n.2503T>C non_coding_transcript_exon_variant 1.0 capreomycin Uncertain significance
linezolid Uncertain significance
rrl 1476165 n.2508T>A non_coding_transcript_exon_variant 1.0 capreomycin Uncertain significance
linezolid Uncertain significance
rrl 1476337 n.2680C>T non_coding_transcript_exon_variant 1.0 capreomycin Uncertain significance
linezolid Uncertain significance
rrl 1476359 n.2702C>G non_coding_transcript_exon_variant 1.0 capreomycin Uncertain significance
linezolid Uncertain significance
rrl 1476381 n.2724G>C non_coding_transcript_exon_variant 1.0 capreomycin Uncertain significance
linezolid Uncertain significance
rrl 1476428 n.2771C>T non_coding_transcript_exon_variant 1.0 capreomycin Not assoc w R
linezolid Uncertain significance
rpsA 1834210 c.669C>T synonymous_variant 1.0 pyrazinamide
rpsA 1834219 c.678C>G synonymous_variant 1.0 pyrazinamide
rpsA 1834222 c.681T>C synonymous_variant 1.0 pyrazinamide
rpsA 1834231 c.690T>C synonymous_variant 1.0 pyrazinamide
rpsA 1834243 c.702G>C synonymous_variant 1.0 pyrazinamide
rpsA 1834249 c.708T>C synonymous_variant 1.0 pyrazinamide
rpsA 1834252 c.711C>G synonymous_variant 1.0 pyrazinamide
rpsA 1834261 c.720A>G synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
rpsA 1834279 p.Asp246Glu missense_variant 1.0 pyrazinamide
clpC1 4039739 c.966C>G synonymous_variant 1.0 pyrazinamide
clpC1 4039748 c.957G>C synonymous_variant 1.0 pyrazinamide
clpC1 4039751 c.954A>G synonymous_variant 1.0 pyrazinamide
clpC1 4039757 c.948A>G synonymous_variant 1.0 pyrazinamide
clpC1 4039766 c.939T>C synonymous_variant 1.0 pyrazinamide
clpC1 4039773 p.Lys311Leu missense_variant 1.0 pyrazinamide
clpC1 4039778 c.927A>G synonymous_variant 1.0 pyrazinamide
clpC1 4039787 c.916_918delTCGinsAGC synonymous_variant 1.0 pyrazinamide
clpC1 4039979 c.726C>G synonymous_variant 1.0 pyrazinamide
clpC1 4039994 p.Glu237Asp missense_variant 1.0 pyrazinamide
clpC1 4040001 p.His235Arg missense_variant 1.0 pyrazinamide
clpC1 4040009 c.696C>G synonymous_variant 1.0 pyrazinamide
clpC1 4040015 c.690G>C synonymous_variant 1.0 pyrazinamide
clpC1 4040018 c.687G>C synonymous_variant 1.0 pyrazinamide
clpC1 4040021 c.684A>C synonymous_variant 1.0 pyrazinamide Not assoc w R - Interim
clpC1 4040024 c.681A>G synonymous_variant 0.92 pyrazinamide
clpC1 4040033 c.672G>C synonymous_variant 1.0 pyrazinamide
clpC1 4040069 c.636G>C synonymous_variant 1.0 pyrazinamide
clpC1 4040083 p.Thr208Ser missense_variant 0.93 pyrazinamide