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Gene PBRM1
Variant Q1480Tfs*29
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions PBRM1 Q1480Tfs*29 indicates a shift in the reading frame starting at amino acid 1480 and terminating 29 residues downstream causing a premature truncation of the 1689 amino acid Pbrm1 protein (UniProt.org). Q1480Tfs*29 has not been characterized in the scientific literature and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 Q1480Tfs*29

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Transcript NM_018313.5
gDNA chr3:g.52550560dupT
cDNA c.4437dupA
Protein p.Q1480Tfs*29
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017006734.3 chr3:g.(52558271_52558360) c.(4438_4527) p.Q1480Tfs*29 RefSeq GRCh38/hg38
XM_017006730.2 chr3:g.(52558301_52558390) c.(4438_4527) p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405626.1 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405627.1 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
XM_047448444.1 chr3:g.(52558298_52558387) c.(4438_4527) p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405565.1 chr3:g.(52550551_52550749) c.(4438_4527) p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_181042.5 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405640.1 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
XM_024453619.2 chr3:g.(52558274_52558363) c.(4438_4527) p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405593.1 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001394876.1 chr3:g.52550556_52550557insTTGT c.4437_4438insACAA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001400501.1 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405624.1 chr3:g.52550556_52550557insTTGT c.4437_4438insACAA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001400484.1 chr3:g.(52550551_52550749) c.(4438_4527) p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405635.1 chr3:g.(52550551_52550749) c.(4438_4527) p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001366073.2 chr3:g.52550613_52550614insTTTGT c.4437_4438insACAAA p.Q1480Tfs*29 RefSeq GRCh38/hg38
XM_047448445.1 chr3:g.(52558298_52558387) c.(4438_4527) p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001400500.1 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001366074.2 chr3:g.52550610_52550611insTTTGGGGT c.4437_4438insACCCCAAA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001400496.1 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_018313.5 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405558.1 chr3:g.(52550551_52550749) c.(4438_4527) p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405577.1 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_018313.4 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001394875.1 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405555.1 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405570.1 chr3:g.52558270_52558271insTTGGGGGGGGGGT c.4437_4438insACCCCCCCCCCAA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405563.1 chr3:g.52550556_52550557insTTGT c.4437_4438insACAA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405552.1 chr3:g.(52558277_52558366) c.(4438_4527) p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_181042.4 chr3:g.52550560dupT c.4437dupA p.Q1480Tfs*29 RefSeq GRCh38/hg38
XM_017006731.2 chr3:g.(52558301_52558390) c.(4438_4527) p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001394877.1 chr3:g.52550556_52550557insTTGT c.4437_4438insACAA p.Q1480Tfs*29 RefSeq GRCh38/hg38
NM_001405633.1 chr3:g.(52550551_52550749) c.(4438_4527) p.Q1480Tfs*29 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 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 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 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