BCR
BCR (Breakpoint Cluster Region Protein) is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. This gene has some recurrent sites of mutations (hot spots).
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 1-a | aSHM target and high-confidence DLBCL gene |
| BL | 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous |
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 6.00 |
| BL | Thomas cohort | 6.40 |
| BL | Panea cohort | 10.90 |
| DLBCL | GAMBL genomes | 4.97 |
| DLBCL | Schmitz cohort | 6.38 |
| DLBCL | Reddy cohort | 3.90 |
| DLBCL | Chapuy cohort | 4.27 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 2.733 | 2.641 |
| DLBCL | Yes | No | 1.249 | 3.642 |
| FL | Yes | No | 7.439 | 0.000 |
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr22 | 23522060 | 23528313 | TSS | NA |
Note
First described in BL in 2019 by Panea RI
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr22 | 23523350 | A>G | K68R |
| chr22 | 23523351 | G>T | K68N |
| chr22 | 23523353 | G>A | S69N |
| chr22 | 23523353 | G>C | S69T |
| chr22 | 23523356 | A>T | Y70F |
| chr22 | 23523359 | A>C | D71A |
| chr22 | 23523374 | G>A | G76D |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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