chr22:28695869:G> Detail (hg38) (CHEK2)

Information

Genome

Assembly Position
hg19 chr22:29,091,857-29,091,857 
hg38 chr22:28,695,869-28,695,869

HGVS

Type Transcript Protein
RefSeq NM_001257387.1:c.1013delC NP_001244316.1:p.Thr338MetfsTer15
NM_145862.2:c.1013delC NP_665861.1:p.Thr338MetfsTer15
NM_001005735.1:c.1229delC NP_001005735.1:p.Thr410MetfsTer15
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 604373 OMIM
HGNC 16627 HGNC
Ensembl ENSG00000183765 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv411658779 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-04-24 criteria provided, multiple submitters, no conflicts Li-Fraumeni syndrome 2 germline unknown Detail
Pathogenic 2023-04-11 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline paternal unknown maternal Detail
Pathogenic 2015-11-20 criteria provided, multiple submitters, no conflicts Breast and colorectal cancer, susceptibility to germline Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
Pathogenic criteria provided, single submitter Breast neoplasm germline Detail
Pathogenic no assertion criteria provided leiomyosarcoma,Breast neoplasm germline Detail
Pathogenic no assertion criteria provided leiomyosarcoma,Breast neoplasm germline Detail
Pathogenic 2021-11-22 no assertion criteria provided Breast cancer, susceptibility to germline Detail
Pathogenic 2017-05-18 criteria provided, single submitter Li-Fraumeni syndrome 2,Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Li-Fraumeni syndrome 2,Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Li-Fraumeni syndrome 2,Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Li-Fraumeni syndrome 2,Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast unknown Detail
Pathogenic 2019-07-25 criteria provided, single submitter Li-Fraumeni syndrome germline Detail
no classifications from unflagged records 2022-08-09 no classifications from unflagged records Astrocytoma somatic Detail
Pathogenic criteria provided, single submitter germline Detail
Pathogenic 2021-05-07 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic no assertion criteria provided unknown Detail
Pathogenic 2021-03-04 no assertion criteria provided Carcinoma of pancreas germline Detail
Pathogenic 2021-08-19 no assertion criteria provided breast carcinoma germline Detail
Pathogenic 2021-07-26 no assertion criteria provided bone osteosarcoma germline Detail
Pathogenic 2022-04-19 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2022-09-26 criteria provided, single submitter Malignant tumor of prostate,colorectal cancer,Familial cancer of breast unknown Detail
Pathogenic 2022-09-26 criteria provided, single submitter Malignant tumor of prostate,colorectal cancer,Familial cancer of breast unknown Detail
Pathogenic 2022-09-26 criteria provided, single submitter Malignant tumor of prostate,colorectal cancer,Familial cancer of breast unknown Detail
Pathogenic 2022-05-24 criteria provided, single submitter Predisposition to cancer germline Detail
Pathogenic 2023-06-09 criteria provided, multiple submitters, no conflicts colorectal cancer unknown germline Detail
Pathogenic 2006-11-01 no assertion criteria provided TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL germline Detail
Pathogenic 2023-10-26 criteria provided, single submitter Li-Fraumeni syndrome 1 unknown Detail
Pathogenic 2023-07-28 no assertion criteria provided Neoplasm of ovary germline Detail
Pathogenic 2024-03-15 criteria provided, single submitter Malignant tumor of prostate unknown Detail
Pathogenic 2024-02-01 criteria provided, single submitter CHEK2-related disorder germline Detail
Pathogenic 2017-04-27 criteria provided, multiple submitters, no conflicts CHEK2-related cancer predisposition germline unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
prostate cancer B Predisposing Supports Positive Rare Germline 3 26629066 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.127 Breast Cancer, Familial NA CLINVAR Detail
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
Meta-analysis linking CHEK2 1100delC to a higher risk of prostate cancer (OR 3.29; 95% confidence in... CIViC Evidence Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Li-Fraumeni syndrome 2 ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Familial cancer of breast ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Breast and colorectal cancer, susceptibility to ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND not provided ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Breast neoplasm ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Breast cancer, susceptibility to ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Li-Fraumeni syndrome ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Astrocytoma ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Breast and/or ovarian cancer ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Malignant tumor of breast ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Carcinoma of pancreas ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Breast carcinoma ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Bone osteosarcoma ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Predisposition to cancer ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Colorectal cancer ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLOR... ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Li-Fraumeni syndrome 1 ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Neoplasm of ovary ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND Malignant tumor of prostate ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND CHEK2-related disorder ClinVar Detail
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) AND CHEK2-related cancer predisposition ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs555607708 dbSNP
Genome
hg38
Position
chr22:28,695,869-28,695,869
Variant Type
snv
Reference Allele
G
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
118290
Allele Counts in All Race (ExAC)
215
Heterozygous Counts in All Race (ExAC)
215
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.001817566996364866
Variant (CIViC) (CIViC Variant)
1100DELC
Transcript 1 (CIViC Variant)
ENST00000328354.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/785
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