PALB2 L947S
Gene Variant Detail

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Gene PALB2
Variant L947S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PALB2 L947S lies within WD repeat 2 of the Palb2 protein (UniProt.org). L947S confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability, Brca2 binding, recruitment to DNA damage sites, and Rad51 foci formation and intensity, and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400, PMID: 31757951).
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 L947S

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Transcript NM_024675.4
gDNA chr16:g.23623125A>G
cDNA c.2840T>C
Protein p.L947S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023672.2 chr16:g.23623125A>G c.2840T>C p.L947S RefSeq GRCh38/hg38
XM_017023672 chr16:g.23623125A>G c.2840T>C p.L947S RefSeq GRCh38/hg38
XM_017023673 chr16:g.23623125A>G c.2840T>C p.L947S RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23623125A>G c.2840T>C p.L947S RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23623125A>G c.2840T>C p.L947S RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23623125A>G c.2840T>C p.L947S RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23614086A>G c.2840T>C p.L947S RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23623125A>G c.2840T>C p.L947S RefSeq GRCh38/hg38
NM_024675 chr16:g.23623125A>G c.2840T>C p.L947S RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23623125A>G c.2840T>C p.L947S RefSeq GRCh38/hg38

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 L947S osteosarcoma sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, osteosarcoma cells expressing PALB2 L947S were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). 31586400
PALB2 L947S Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, cells expressing PALB2 L947S were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). 31586400
PALB2 L947S Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, Lynparza (olaparib) treatment decreased viability of cells expressing PALB2 L947S in culture (PMID: 31757951). 31757951