PIK3CA Q546X
Gene Variant Detail

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Gene PIK3CA
Variant Q546X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PIK3CA Q546X indicates any PIK3CA missense mutation that results in replacement of the glutamine (Q) at amino acid 546 by a different amino acid.
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA exon10 PIK3CA Q546X

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Transcript NM_006218.4
gDNA chr3:g.179218306_179218308
cDNA c.1636_1638
Protein p.Q546
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218.4 chr3:g.179218306_179218308 c.1636_1638 p.Q546 RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179218306_179218308 c.1636_1638 p.Q546 RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179218306_179218308 c.1636_1638 p.Q546 RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179218306_179218308 c.1636_1638 p.Q546 RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179218306_179218308 c.1636_1638 p.Q546 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA Q546X endometrial adenocarcinoma no benefit Copanlisib Case Reports/Case Series Actionable In a Phase II (NRG-GY008) trial, Aliqopa (copanlisib) was well tolerated but demonstrated limited efficacy, resulted in 1 stable disease and 1 progressive disease in 2 patients with endometrioid adenocarcinoma harboring PIK3CA Q546 mutations, and stable disease in a patient with serous endometrial adenocarcinoma harboring a PIK3CA Q546 mutation (PMID: 31934607). 31934607