Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene CHEK2
Variant F103L
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CHEK2 F103L does not lie within any known functional domains of the Chek2 protein (UniProt.org). F103L results in cell proliferation similar to wild-type Chek2 in a yeast assay (PMID: 30851065), and therefore, is predicted to have no effect on Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 F103L

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.

Transcript NM_007194.4
gDNA chr22:g.28734415A>G
cDNA c.307T>C
Protein p.F103L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
NM_001005735 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
NM_001005735.2 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
XM_011529841 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
NM_007194 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
NM_145862 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
XM_047441105.1 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
XM_047441106.1 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
NM_001005735.1 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
XM_047441104.1 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
XM_011529843 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28734415A>G c.307T>C p.F103L RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28734415A>G c.307T>C p.F103L 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 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 not applicable N/A Guideline Risk Factor Germline CHEK2 mutations are associated with increased risk of developing breast 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
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...