ACTG1.md
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-ACTG1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
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+# [ACTG1]
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## Mutation tier
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|Entity|Tier|Description |
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|:------:|:----:|--------------------------------------|
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-|DLBCL |1-a |high-confidence DLBCL gene, hypermutated |
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-|FL |2-a |relevance in FL not firmly established, hypermutated|
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+|DLBCL |1-a | aSHM target and high-confidence DLBCL gene |
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+|FL |2-a | aSHM target; Although recurrent, the relevance of mutations in FL is tenuous |
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## Mutation incidence
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|Entity|source |frequency (%)|
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|:------:|:--------------:|:-------------:|
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|DLBCL |GAMBL genomes |5.35 |
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-|DLBCL |Schmitz cohort| NA |
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-|DLBCL |Reddy cohort | NA |
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-|DLBCL |Chapuy cohort | NA |
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+|DLBCL |Schmitz cohort|7.45 |
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+|DLBCL |Reddy cohort |4.70 |
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+|DLBCL |Chapuy cohort |2.99 |
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|FL |GAMBL genomes |3.00 |
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## Mutation pattern
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|chr17 |79478289 |79479959|[intron](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr17%3A79478289%2D79479959)|NA |
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> [!NOTE]
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+> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289). First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
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View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ACTG1_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/ACTG1_protein_hg38.html)
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![image](images/proteinpaint/ACTG1_NM_001614.svg)