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Gene PBRM1
Variant R941fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PBRM1 R941fs (corresponds to R926fs in the canonical isoform) results in a change in the amino acid sequence of the Pbrm1 protein beginning at aa 941, likely resulting in premature truncation of the functional protein (UniProt.org). R941fs has not been characterized, however, due to the effects of other truncation mutations downstream of R941 (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 R941fs

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No Variant Reference Transcript is Available.
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001400471.1 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265279.5 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
NM_001405607.1 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
NM_001405571.1 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265280.3 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265283 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265282 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_017006745 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265282.4 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265280 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_017006746.2 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
NM_001405601.1 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_017006746 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_005265279 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38
XM_017006745.2 chr3:g.(52603524_52603525) c.(2821_2820) p.R941fs RefSeq GRCh38/hg38

Filtering

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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 R941fs 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 R941fs (PMID: 29301960). 29301960