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Gene PBRM1
Variant W141_L145delinsC
Impact List indel
Protein Effect unknown
Gene Variant Descriptions PBRM1 W141_L145delinsC results in a deletion of five amino acids of the Pbrm1 protein from amino acids 141 to 145, combined with the insertion of a cysteine (C) at the same site (UniProt.org). W141_L145delinsC has been identified in the scientific literature (PMID: 29301960), but has not been biochemically characterized and therefore, its effect on Pbrm1 protein function is unknown (PubMed, Nov 2022).
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 W141_L145delinsC

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Transcript NM_018313.4
gDNA chr3:g.52662227_52662238del12
cDNA c.423_434del12
Protein p.W141_L145delinsC
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_018313 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006758.1 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
NM_181042.4 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_005265282.4 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_005265280 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006746.2 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006757 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006749 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006746 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006737 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006738 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006748 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006758 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
NM_018313.4 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006748.1 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006750 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_005265279 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006745.2 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006765 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_005265282 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006738.2 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006737.1 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_005265279.5 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006740 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006745 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006739.1 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
NM_001350075.1 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006749.1 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006750.1 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006739 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_005265283 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_005265280.3 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC RefSeq GRCh38/hg38
XM_017006740.1 chr3:g.52662227_52662238del12 c.423_434del12 p.W141_L145delinsC 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 W141_L145delinsC 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 W141_L145delinsC (PMID: 29301960). 29301960