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Gene PBRM1
Variant K621*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions PBRM1 K621* results in a premature truncation of the Pbrm1 protein at amino acid 621 of 1689 (UniProt.org). K621* has not been characterized, however, due to the effects of other truncation mutations downstream of K621 (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 K621*

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Transcript NM_018313.5
gDNA chr3:g.52615414T>A
cDNA c.1861A>T
Protein p.K621*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001350075.2 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405630.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405610.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400470.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006736.1 chr3:g.52617309T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405624.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405557.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400490.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400501.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405605.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405592.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001394871.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006757 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405627.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001394869.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405581.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405633.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006765 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405626.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400479.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405631.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400474.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001394867.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006750 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405555.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_047448460.1 chr3:g.52615363T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405606.1 chr3:g.52609923T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405582.1 chr3:g.52609923T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400500.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405599.1 chr3:g.52609923T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405559.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_181042.5 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405567.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001394876.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001394872.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006736 chr3:g.52617309T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400487.1 chr3:g.52609923T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001394873.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405585.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405588.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405565.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001350075.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006731 chr3:g.52617345T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405578.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405634.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405594.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400481.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400504.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400496.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405643.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405593.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405612.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405602.1 chr3:g.52609923T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405563.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001394877.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006730 chr3:g.52617345T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405590.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405638.1 chr3:g.52609923T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006730.1 chr3:g.52617345T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405603.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405641.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_018313 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_047448462.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405579.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405589.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405556.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405609.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405629.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006731.2 chr3:g.52617345T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405576.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405628.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006758.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400484.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405611.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405583.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001394868.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405623.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001394874.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006748.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001394879.1 chr3:g.52609923T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006749.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006730.2 chr3:g.52617345T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405570.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405608.1 chr3:g.52587403T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405640.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405575.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405584.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006750.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400475.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006735 chr3:g.52617309T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_018313.5 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_018313.4 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405558.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405561.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405604.1 chr3:g.52609923T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405595.1 chr3:g.52609950T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006748 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_181042.4 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405572.1 chr3:g.52609923T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006735.2 chr3:g.52617309T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001394875.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405639.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405632.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001400473.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405635.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006749 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
NM_001405577.1 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006758 chr3:g.52615414T>A c.1861A>T p.K621* RefSeq GRCh38/hg38
XM_017006731.1 chr3:g.52617345T>A c.1861A>T p.K621* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PBRM1 inact mut clear cell renal cell carcinoma sensitive Everolimus + PRT1419 Preclinical - Cell culture Actionable In a preclinical study, the combination of PRT1419 and Afinitor (everolimus) synergistically inhibited spheroid growth of clear cell renal cell carcinoma cell lines harboring inactivating PBRM1 mutations in culture (PMID: 38371625). 38371625
PBRM1 inact mut clear cell renal cell carcinoma sensitive Cabozantinib + PRT1419 Preclinical - Cell culture Actionable In a preclinical study, the combination of PRT1419 and Cometriq (Cabometyx, cabozantinib) synergistically inhibited spheroid growth of clear cell renal cell carcinoma cell lines harboring inactivating PBRM1 mutations in culture (PMID: 38371625). 38371625
PBRM1 inact mut colorectal adenocarcinoma unknown unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including PBRM1, correlated with improved survival in one cohort of patients with colorectal adenocarcinoma treated with systemic immune checkpoint inhibitors but not the other, with adjusted HRs for overall survival of 0.30 (p=0.03, n=35) and 0.56 (p=0.244, n=63), respectively (PMID: 32321774). 32321774
PBRM1 inact mut melanoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including PBRM1, did not correlate with improved survival in 2 separate cohorts of patients with melanoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 1.70 (p=0.192, n=86) and 1.02 (p=0.939, n=192), respectively (PMID: 32321774). 32321774
PBRM1 inact mut clear cell renal cell carcinoma predicted - sensitive PRT2527 Preclinical - Cell culture Actionable In a preclinical study, PRT2527 inhibited spheroid growth in clear cell renal cell carcinoma cell lines harboring inactivating PBRM1 mutations in culture (PMID: 38371625). 38371625
PBRM1 inact mut clear cell renal cell carcinoma sensitive Atezolizumab Clinical Study - Cohort Actionable In a clinical study, renal clear cell carcinoma patients harboring PBRM1 loss-of-function mutations demonstrated improved response to immune checkpoint therapies including Opdivo (nivolumab) alone or in combination with Yervoy (ipilimumab), and Tecentriq (atezolizumab), potentially due to the distinct expression profile of immune-related genes in these patients (PMID: 29301960). 29301960
PBRM1 inact mut renal cell carcinoma no benefit Everolimus Case Reports/Case Series Actionable In a retrospective analysis from a Phase II clinical trial, patients with metastatic renal cell carcinoma had no difference in progression-free survival when stratified by the presence (n=6) or absence (n=22) of deleterious PBRM1 mutation when treated with Afinitor (everolimus) (PMID: 26951309). 26951309
PBRM1 inact mut renal cell carcinoma no benefit Apitolisib Case Reports/Case Series Actionable In a retrospective analysis from a Phase II clinical trial, patients with renal cell carcinoma treated with Apitolisib (GDC-0980) had no difference in progression-free survival when stratified by the presence (n=5) or absence (n=17) of deleterious PBRM1 mutations (PMID: 26951309). 26951309
PBRM1 inact mut clear cell renal cell carcinoma sensitive Nivolumab Clinical Study - Cohort Actionable In a clinical study, renal clear cell carcinoma patients harboring PBRM1 loss-of-function mutations demonstrated improved response to immune checkpoint therapies including Opdivo (nivolumab) alone or in combination with Yervoy (ipilimumab), and Tecentriq (atezolizumab), potentially due to the distinct expression profile of immune-related genes in these patients (PMID: 29301960). 29301960
PBRM1 inact mut transitional cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including PBRM1, did not correlate with improved survival in 2 separate cohorts of patients with transitional cell carcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 1.44 (p=0.34, n=56) and 0.82 (p=0.559, n=93), respectively (PMID: 32321774). 32321774
PBRM1 inact mut gastroesophageal adenocarcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including PBRM1, did not correlate with improved survival in 2 separate cohorts of patients with gastroesophageal adenocarcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 0.70 (p=0.403, n=66) and 0.46 (p=0.071, n=59), respectively (PMID: 32321774). 32321774
PBRM1 inact mut clear cell renal cell carcinoma sensitive PRT1419 Preclinical - Cell line xenograft Actionable In a preclinical study, PRT1419 inhibited proliferation and induced apoptosis in clear cell renal cell carcinoma cells lines harboring inactivating PBRM1 mutations in culture, and inhibited tumor growth in a cell line xenograft model (PMID: 38371625). 38371625
PBRM1 inact mut clear cell renal cell carcinoma sensitive Pazopanib + PRT1419 Preclinical - Cell culture Actionable In a preclinical study, the combination of PRT1419 and Votrient (pazopanib) synergistically inhibited spheroid growth of clear cell renal cell carcinoma cell lines harboring inactivating PBRM1 mutations in culture (PMID: 38371625). 38371625
PBRM1 inact mut clear cell renal cell carcinoma sensitive Ipilimumab + Nivolumab Clinical Study - Cohort Actionable In a clinical study, renal clear cell carcinoma patients harboring PBRM1 loss-of-function mutations demonstrated improved response to immune checkpoint therapies including Opdivo (nivolumab) alone or in combination with Yervoy (ipilimumab), and Tecentriq (atezolizumab), potentially due to the distinct expression profile of immune-related genes in these patients (PMID: 29301960). 29301960
PBRM1 inact mut kidney cancer predicted - sensitive GSK126 Preclinical - Cell culture Actionable In a preclinical study, GSK126 inhibited growth of 3/4 tested renal cancer cell lines harboring PBRM1 inactivating mutations in culture, with inhibitor sensitivity associating with dependence on EZH2 catalytic activity (PMID: 26552009). 26552009
PBRM1 inact mut clear cell renal cell carcinoma sensitive PRT1419 + Sunitinib Preclinical - Cell culture Actionable In a preclinical study, the combination of PRT1419 and Sutent (sunitinib) synergistically inhibited spheroid growth of clear cell renal cell carcinoma cell lines harboring inactivating PBRM1 mutations in culture (PMID: 38371625). 38371625
PBRM1 inact mut head and neck squamous cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including PBRM1, did not correlate with improved survival in 2 separate cohorts of patients with head and neck squamous cell carcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 0.74 (p=0.631, n=31) and 0.76 (p=0.622, n=68), respectively (PMID: 32321774). 32321774
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 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 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 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