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Gene PBRM1
Variant G340A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PBRM1 G340A does not lie within any known functional domains of the Pbrm1 protein (UniProt.org). G340A has been identified in sequencing studies (PMID: 21248752), but has not been biochemically characterized and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 G340A

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Transcript NM_018313.5
gDNA chr3:g.52642022C>G
cDNA c.1019G>C
Protein p.G340A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001394872.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405594.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001394873.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405628.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405558.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405623.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_018313.4 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405601.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400490.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400472.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405581.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405565.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405556.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405588.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405577.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405583.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001350075.2 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_181042.5 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
XM_017006749.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405555.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405616.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400496.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405632.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001394877.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400479.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405584.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400501.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405610.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001394871.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405593.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405609.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405630.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405611.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001350075.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400500.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405589.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405579.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001394867.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405614.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
XM_017006745.2 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405576.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
XM_005265282.4 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400481.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405627.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400474.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405641.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001394881.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405567.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405563.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400473.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405605.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
XM_017006748.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
XM_017006758.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405624.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405631.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001394875.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001394869.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405629.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405607.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405575.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405639.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_018313.5 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400471.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
XM_017006746.2 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405571.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405615.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_181042.4 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
XM_047448462.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400484.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405626.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405640.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405643.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400475.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001394874.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405578.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405585.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405559.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
XM_005265280.3 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
XM_005265279.5 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405612.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400504.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405590.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001400470.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001394878.1 chr3:g.52641986C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405634.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
XM_017006750.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405633.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001394868.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405592.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405561.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405603.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001394876.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405635.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405570.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38
NM_001405557.1 chr3:g.52642022C>G c.1019G>C p.G340A RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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 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
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 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