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Gene PBRM1
Variant L848F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PBRM1 L848F lies within bromo domain 6 of the Pbrm1 protein (UniProt.org). L848F has not been characterized in the scientific literature and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 L848F

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Transcript NM_018313.5
gDNA chr3:g.52609336C>A
cDNA c.2544G>T
Protein p.L848F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001405581.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405590.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405557.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405641.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405635.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_181042.5 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405636.1 chr3:g.52609363T>A c.2544A>T p.L848F RefSeq GRCh38/hg38
NM_001405629.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001394873.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405583.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001400490.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405623.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001400481.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001394877.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405633.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405609.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405631.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405589.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001394867.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001350075.2 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405588.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001394869.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001350075.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405573.1 chr3:g.52603570C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405628.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405567.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
XM_047448462.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001394876.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405634.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001400501.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001400473.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405594.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405564.1 chr3:g.52609363T>A c.2544A>T p.L848F RefSeq GRCh38/hg38
NM_001405605.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405580.1 chr3:g.52609363T>A c.2544A>T p.L848F RefSeq GRCh38/hg38
XM_017006758.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405643.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001394874.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405569.1 chr3:g.52609363T>A c.2544A>T p.L848F RefSeq GRCh38/hg38
NM_001400496.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405598.1 chr3:g.52609363T>A c.2544A>T p.L848F RefSeq GRCh38/hg38
NM_001405561.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405586.1 chr3:g.52609363T>A c.2544A>T p.L848F RefSeq GRCh38/hg38
NM_001405579.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405593.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001400484.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405558.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405626.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405627.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001400479.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_181042.4 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001394868.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405559.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405576.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405555.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001394872.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405612.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405563.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405597.1 chr3:g.52603641G>A c.2542C>T p.L848F RefSeq GRCh38/hg38
NM_001405592.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405568.1 chr3:g.52609363T>A c.2544A>T p.L848F RefSeq GRCh38/hg38
NM_001400500.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001400504.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001394875.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
XM_017006749.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405603.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405640.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
XM_017006750.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405556.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405630.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405578.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405584.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405632.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405610.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405575.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405577.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001394871.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405639.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405624.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001400475.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405570.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_018313.4 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001400470.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
XM_017006748.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001400474.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405585.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_018313.5 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405565.1 chr3:g.52609336C>A c.2544G>T p.L848F RefSeq GRCh38/hg38
NM_001405611.1 chr3:g.52609336C>A c.2544G>T p.L848F 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PBRM1 mutant clear cell renal cell carcinoma predicted - sensitive Nivolumab Clinical Study - Cohort Actionable In a clinical study, PBRM1 truncating mutations were associated with response to Opdivo (nivolumab) with 39% (15/38) of responding patients harboring PBRM1 mutations vs 22% (16/74) of non-responders, as well as clinical benefit (p=0.0497), increased progression-free survival (HR=0.67), and overall survival (HR=0.65) in post-hoc analysis of archival samples from a Phase III clinical trial of clear cell renal cell carcinoma patients (PMID: 31486842). 31486842
PBRM1 mutant lung non-small cell carcinoma predicted - resistant unspecified PD-L1 antibody Clinical Study - Cohort Actionable In a clinical study, treatment with either an anti-PD-1 or anti-PD-L1 therapy resulted in a significantly shorter overall survival (p=0.0057) and progression-free survival (p=0.03) in patients with non-small cell lung cancer harboring a PBRM1 mutation compared to patients with wild-type PBRM1 (PMID: 36456601). 36456601
PBRM1 mutant clear cell renal cell carcinoma conflicting Everolimus Clinical Study - Cohort Actionable In a clinical study, PBRM1 truncating mutations were not associated with progression-free survival or overall survival in clear cell renal cell carcinoma patients treated with Afinitor (everolimus) (n=193) (PMID: 31486842). 31486842
PBRM1 mutant clear cell renal cell carcinoma conflicting Everolimus Phase II Actionable In a Phase II trial (RECORD-3), PBRM1 mutations were associated with longer first-line progression free survival (12.8 vs 5.5 months) in first-line Afinitor (everolimus)-treated clear cell renal cell carcinoma patients compared to first-line Sutent (sunitinib)-treated patients (PMID: 27751729). 27751729
PBRM1 mutant lung non-small cell carcinoma predicted - resistant unspecified PD-1 antibody Clinical Study - Cohort Actionable In a clinical study, treatment with either an anti-PD-1 or anti-PD-L1 therapy resulted in a significantly shorter overall survival (p=0.0057) and progression-free survival (p=0.03) in patients with non-small cell lung cancer harboring a PBRM1 mutation compared to patients with wild-type PBRM1 (PMID: 36456601). 36456601