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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

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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_001405643.1 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_001405579.1 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_001405633.1 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_001394869.1 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_001405605.1 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
NM_001405558.1 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
XM_017006730.1 chr3:g.(52651792_52651793) c.(745_744) p.A249fs RefSeq GRCh38/hg38
NM_001405611.1 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_001405575.1 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
XM_017006758 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_001405639.1 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_001405572.1 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
NM_001400501.1 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
NM_001405556.1 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
XM_047448460.1 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_001400496.1 chr3:g.(52648412_52648413) c.(745_744) p.A249fs RefSeq GRCh38/hg38
NM_001405585.1 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_005265282 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_001405607.1 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
XM_017006746 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
NM_001405559.1 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
XM_017006758.1 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
NM_001400500.1 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_001405563.1 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_001405626.1 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_001405554.1 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_018313.4 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
XM_017006746.2 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
XM_017006748.1 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
XM_017006750 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
NM_001405632.1 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_001405594.1 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_001405634.1 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
NM_001400475.1 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
NM_001394877.1 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
NM_001405613.1 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
XM_017006750.1 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_001405592.1 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
XM_017006745.2 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_001405630.1 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_017006748 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
XM_017006757 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_001405617.1 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
XM_017006745 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
XM_017006749 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_001405588.1 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_001405631.1 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_001405599.1 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_001400490.1 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
XM_005265279 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_001394871.1 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_001400484.1 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_001405602.1 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_001405624.1 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_001394872.1 chr3:g.(52648412_52648413) c.(745_744) p.A249fs RefSeq GRCh38/hg38
NM_001405609.1 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
XM_005265280.3 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
XM_005265282.4 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
XM_017006731 chr3:g.(52651792_52651793) c.(745_744) p.A249fs RefSeq GRCh38/hg38
NM_001405582.1 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_001405604.1 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
NM_001405589.1 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_005265283 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_001400471.1 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
NM_001405578.1 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_001405614.1 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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