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Gene CHEK2
Variant V25I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 V25I does not lie within any known functional domains of the Chek2 protein (UniProt.org). V25I has not been characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 V25I

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Transcript NM_007194.4
gDNA chr22:g.28734649C>T
cDNA c.73G>A
Protein p.V25I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529845.2 chr22:g.28711965C>T c.73G>A p.V25I RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
XM_017028561 chr22:g.28711965C>T c.73G>A p.V25I RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_001257387.2 chr22:g.28711965C>T c.73G>A p.V25I RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
XM_011529845 chr22:g.28711965C>T c.73G>A p.V25I RefSeq GRCh38/hg38
XM_011529843 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_145862 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_001257387.1 chr22:g.28711965C>T c.73G>A p.V25I RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
XM_011529841 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
XM_017028561.2 chr22:g.28711965C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_007194 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_001005735 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_001257387 chr22:g.28711965C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28734649C>T c.73G>A p.V25I RefSeq GRCh38/hg38
XM_011529845.3 chr22:g.28711965C>T c.73G>A p.V25I 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
CHEK2 mutant Advanced Solid Tumor no benefit Olaparib Phase II Actionable In a Phase II trial, Lynparza (olaparib) treatment did not demonstrate clinical activity in patients with advanced solid tumors harboring ATM (n=13) or CHEK2 (n=14) mutations (Ann Oncol (2023) 34 (suppl_2): S242; NCT03967938). detail...
CHEK2 mutant breast cancer not applicable N/A Guideline Risk Factor Germline CHEK2 mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...
CHEK2 mutant prostate cancer not applicable N/A Guideline Risk Factor Germline CHEK2 mutations are associated with increased risk of developing prostate cancer (NCCN.org). detail...
CHEK2 mutant breast cancer no benefit Olaparib Case Reports/Case Series Actionable In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment did not result in an objective response in 7 patients with metastatic breast cancer harboring only germline mutations in CHEK2 (PMID: 33119476; NCT03344965). 33119476