PALB2 H46Y
Gene Variant Detail

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Gene PALB2
Variant H46Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PALB2 H46Y lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). H46Y results in subcellular localization, RAD51 foci formation, and homologous repair activity similar to wild-type Palb2 in cultured cells and BRCA1 binding similar to wild-type protein in a mammalian two-hybrid assay, but fails to rescue PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, its effect on Palb2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 H46Y

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Transcript NM_024675.4
gDNA chr16:g.23637925G>A
cDNA c.136C>T
Protein p.H46Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023672.2 chr16:g.23637925G>A c.136C>T p.H46Y RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23637925G>A c.136C>T p.H46Y RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23637925G>A c.136C>T p.H46Y RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23637925G>A c.136C>T p.H46Y RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23637925G>A c.136C>T p.H46Y RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23637925G>A c.136C>T p.H46Y RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23637925G>A c.136C>T p.H46Y RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23637925G>A c.136C>T p.H46Y RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23637925G>A c.136C>T p.H46Y RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23637925G>A c.136C>T p.H46Y 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 H46Y osteosarcoma sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, osteosarcoma cells expressing PALB2 H46Y were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). 31586400
PALB2 H46Y Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, cells expressing PALB2 H46Y were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). 31586400