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| Gene | PBRM1 |
| Variant | A249fs |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PBRM1 A249fs results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 249 of 1689, likely resulting in premature truncation of the functional protein (UniProt.org). A249fs has not been characterized, however, due to the effects of other truncation mutations downstream of A249 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PBRM1 mutant PBRM1 inact mut PBRM1 A249fs |
| Transcript | NM_018313.5 |
| gDNA | chr3:g.(52648412_52648413) |
| cDNA | c.(745_744) |
| Protein | p.A249fs |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001405585.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001394876.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405575.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405630.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006758.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405583.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400471.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405614.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_005265282 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405579.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006748 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405570.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405604.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001394881.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006749.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405571.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405629.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006746 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405577.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405611.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001394874.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006757 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_018313.5 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400474.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405558.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405634.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006750 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400501.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006730.2 | chr3:g.(52651792_52651793) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405609.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405617.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405599.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405643.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001394872.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_005265279.5 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405624.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405581.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_047448460.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405633.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006748.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405631.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405618.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405572.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405640.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405561.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001394875.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405632.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006745.2 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_005265280 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400484.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405638.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405615.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001394871.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400473.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_005265283 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405582.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405607.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405606.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006746.2 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405639.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001350075.2 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405626.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006730 | chr3:g.(52651792_52651793) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_018313.4 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405641.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_005265280.3 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405605.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400470.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400487.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006765 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001394873.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001394879.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405584.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001394868.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405610.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_018313 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405620.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006749 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405576.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405616.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006745 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006731 | chr3:g.(52651792_52651793) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405588.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001394867.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_181042.4 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400496.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001394869.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400472.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405578.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006730.1 | chr3:g.(52651792_52651793) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405559.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405601.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400475.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_005265282.4 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405593.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400504.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405602.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405635.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405613.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006758 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001394877.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001350075.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400481.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006731.1 | chr3:g.(52651792_52651793) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405589.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405567.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405554.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405623.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006750.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400479.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405628.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405612.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405555.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405565.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405557.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_181042.5 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405590.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_017006731.2 | chr3:g.(52651792_52651793) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405563.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405592.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405556.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_005265279 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400490.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405627.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405603.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001400500.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| NM_001405594.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| XM_047448462.1 | chr3:g.(52648412_52648413) | c.(745_744) | p.A249fs | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PBRM1 A249fs | clear cell renal cell carcinoma | no benefit | Nivolumab | Case Reports/Case Series | Actionable | In a clinical study, Opdivo (nivolumab) treatment resulted in progressive disease in a patient with renal clear cell carcinoma harboring PBRM1 A249fs (PMID: 29301960). | 29301960 |