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Basic Characteristics of Mutations
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Mutation Site
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C23673T |
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Mutation Site Sentence
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These include two missense mutations altering amino acids in the spike gene, g.22917 T > G (S:L452Q) and g.23673 C > T (S:S704L), and three synonymous mutations, g.11674 C > T (ORF1ab), g.15009 T > C (ORF1ab), and g.21721 C > T (S). |
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Mutation Level
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Nucleotide level |
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Mutation Type
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Nonsynonymous substitution |
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Gene/Protein/Region
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S |
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Standardized Encoding Gene
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S
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Genotype/Subtype
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BA.2.12.1 |
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Viral Reference
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NC_045512.2
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Functional Impact and Mechanisms
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Disease
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-
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Immune
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- |
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Target Gene
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-
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Clinical and Epidemiological Correlations
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Clinical Information
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- |
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Treatment
|
- |
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Location
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- |
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Literature Information
|
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PMID
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35582905
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Title
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Partial ORF1ab Gene Target Failure with Omicron BA.2.12.1
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Author
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Rodino KG,Peaper DR,Kelly BJ,Bushman F,Marques A,Adhikari H,Tu ZJ,Marrero Rolon R,Westblade LF,Green DA,Berry GJ,Wu F,Annavajhala MK,Uhlemann AC,Parikh BA,McMillen T,Jani K,Babady NE,Hahn AM,Koch RT,Grubaugh ND,Rhoads DD
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Journal
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Journal of clinical microbiology
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Journal Info
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2022 Jun 15;60(6):e0060022
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Abstract
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Mutations in the genome of SARS-CoV-2 can affect the performance of molecular diagnostic assays. In some cases, such as S-gene target failure, the impact can serve as a unique indicator of a particular SARS-CoV-2 variant and provide a method for rapid detection. Here, we describe partial ORF1ab gene target failure (pOGTF) on the cobas SARS-CoV-2 assays, defined by a >/=2-thermocycle delay in detection of the ORF1ab gene compared to that of the E-gene. We demonstrate that pOGTF is 98.6% sensitive and 99.9% specific for SARS-CoV-2 lineage BA.2.12.1, an emerging variant in the United States with spike L452Q and S704L mutations that may affect transmission, infectivity, and/or immune evasion. Increasing rates of pOGTF closely mirrored rates of BA.2.12.1 sequences uploaded to public databases, and, importantly, increasing local rates of pOGTF also mirrored increasing overall test positivity. Use of pOGTF as a proxy for BA.2.12.1 provides faster tracking of the variant than whole-genome sequencing and can benefit laboratories without sequencing capabilities.
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Sequence Data
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-
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