LOVD - Variant listings for CHEK2

About this overview [Show]

Patient data (#0000514)
Disease Prostate Cancer
Reference Dong et al., 2003, Peikuan Cong
Remarks our data suggest that mutations in CHEK2 may contribute to prostate cancer risk and that the DNA-damage
# Reported 1
Mut. origin -
Gender Male
Occurrence -
De novo origin -
Geographic origin USA
Ethnic origin -
Population -
Submitter Peikuan Cong

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 13
DNA change c.1427C>A   (View in UCSC Genome Browser, Ensembl)
DNA published C1427A
RNA change -
Protein p.Thr476Lys
Re-site -
Frequency -
Patients 0/698
Controls 0/423
DB-ID CHEK2_00038
Type Substitution
Location Exon
Template DNA
Technique RT-PCR, Western
Tissue blood, tumor tissues, and cell lines
Variant remarks These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.
Reference -

18 entries in CHEK2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
DNA published Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
Patients Descending
Ascending
Controls Descending
Ascending
DB-ID Descending
Ascending
Type Descending
Ascending
Location Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Tissue Descending
Ascending
Variant remarks Descending
Ascending
Reference Descending
Ascending
?/? Unknown 02 c.190G>A - - p.Glu64Lys - - 1/698 0/423 CHEK2_00024 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -
?/+ Unknown 02 c.245_260del - - p.Asp82GlyfsX23 - - 1/698 0/423 CHEK2_00025 Deletion Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -
+?/+? Unknown 02 c.319+1G>A - - - - - 1/698 0/423 CHEK2_00027 Substitution Intron DNA RT-PCR, Western blood, tumor tissues, and cell lines All five mutations changed amino acids in either the FHA (forkhead homology-associated) or the kinase activation domain of CHK2, which have previously been shown to be important for protein-protein interaction and phosphorylation of p53 in DNA-damage-signaling. -
?/? Unknown 03 c.434G>C - - p.Arg145Pro - - 1/698 0/423 CHEK2_00026 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -
?/? Unknown 04 c.470T>C - - p.Ile157Thr - - 13/698 5/423 CHEK2_00009 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines All five mutations changed amino acids in either the FHA (forkhead homology-associated) or the kinase activation domain of CHK2, which have previously been shown to be important for protein-protein interaction and phosphorylation of p53 in DNA-damage-signaling. -
?/? Unknown 04 c.499G>A - - p.Gly167Arg - - 1/698 0/423 CHEK2_00028 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -
?/? Unknown 04 c.538C>T - - p.Arg180Cys - - 0/698 1/423 CHEK2_00029 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -
?/? Unknown 04 c.539G>A - - p.Arg180His - - 1/698 0/423 CHEK2_00003 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -
?/? Unknown 04 c.541C>T - - p.Arg181Cys - - 0/698 0/423 CHEK2_00030 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -
?/? Unknown 04 c.542G>A - - p.Arg181His - - 1/698 0/423 CHEK2_00031 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -
?/? Unknown 06 c.715G>A - - p.Glu239Lys - - 1/698 0/423 CHEK2_00033 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines All five mutations changed amino acids in either the FHA (forkhead homology-associated) or the kinase activation domain of CHK2, which have previously been shown to be important for protein-protein interaction and phosphorylation of p53 in DNA-damage-signaling. -
?/+ Unknown 06 c.715G>T - - p.Glu239X - - 1/698 0/423 CHEK2_00032 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines All five mutations changed amino acids in either the FHA (forkhead homology-associated) or the kinase activation domain of CHK2, which have previously been shown to be important for protein-protein interaction and phosphorylation of p53 in DNA-damage-signaling. -
?/? Unknown 06 c.751A>T - - p.Ile251Phe - - 1/698 0/423 CHEK2_00034 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -
?/? Unknown 09 c.953G>A G954A - p.Arg318His - - 0/698 0/423 CHEK2_00035 Substitution Exon DNA RT-PCR, SEQ, Southern, SSCA, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -
?/? Unknown 09 c.967A>C - - p.Thr323Pro - - 0/698 0/423 CHEK2_00036 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -
?/? Unknown 09 c.980A>G - - p.Tyr327Cys - - 1/698 0/423 CHEK2_00037 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -
?/+ Unknown 11 c.1100delC 1100delC - p.Thr367MetfsX15 - - 2/698 0/423 CHEK2_00001 Deletion Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. lovddeng
?/? Unknown 13 c.1427C>A C1427A - p.Thr476Lys - - 0/698 0/423 CHEK2_00038 Substitution Exon DNA RT-PCR, Western blood, tumor tissues, and cell lines These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues. -

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