chr22:29121230:C>T Detail (hg19) (CHEK2)

Information

Genome

Assembly Position
hg19 chr22:29,121,230-29,121,230
hg38 chr22:28,725,242-28,725,242 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001257387.1:c.444+1G>A
NM_145862.2:c.444+1G>A
NM_001005735.1:c.573+1G>A
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 Likely 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
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Pathogenic 2021/03/19 breast germline MGS000048
(TMGS000112) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-12-05 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline paternal Detail
Pathogenic Likely pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Pathogenic 2015-11-20 criteria provided, single submitter Breast and colorectal cancer, susceptibility to germline Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2016-09-29 criteria provided, single submitter Breast cancer, susceptibility to germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast,Li-Fraumeni syndrome 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast,Li-Fraumeni syndrome 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast,Li-Fraumeni syndrome 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast,Li-Fraumeni syndrome 2 unknown Detail
Pathogenic 2019-09-01 no assertion criteria provided Li-Fraumeni syndrome 2,Familial cancer of breast germline Detail
Pathogenic 2019-09-01 no assertion criteria provided Li-Fraumeni syndrome 2,Familial cancer of breast germline Detail
Pathogenic 2023-06-16 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic no assertion criteria provided unknown Detail
Pathogenic 2021-08-09 no assertion criteria provided breast carcinoma germline Detail
Pathogenic 2021-02-01 criteria provided, single submitter Li-Fraumeni syndrome 2 unknown Detail
Pathogenic 2022-08-17 criteria provided, single submitter colorectal cancer germline Detail
Pathogenic 2022-12-05 criteria provided, single submitter melanoma germline Detail
Pathogenic 2023-02-21 no assertion criteria provided endometrial carcinoma germline Detail
Pathogenic 2006-11-01 no assertion criteria provided TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE germline Detail
Pathogenic Likely pathogenic 2018-09-21 criteria provided, multiple submitters, no conflicts CHEK2-related cancer predisposition germline unknown Detail
CIViC
[No Data.]
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
NM_007194.4(CHEK2):c.444+1G>A AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND Familial cancer of breast ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND Breast and colorectal cancer, susceptibility to ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND not provided ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND Breast cancer, susceptibility to ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND Breast and/or ovarian cancer ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND Malignant tumor of breast ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND Breast carcinoma ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND Li-Fraumeni syndrome 2 ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND Colorectal cancer ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND Melanoma ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND Endometrial carcinoma ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE ClinVar Detail
NM_007194.4(CHEK2):c.444+1G>A AND CHEK2-related cancer predisposition ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121908698 dbSNP
Genome
hg19
Position
chr22:29,121,230-29,121,230
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
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)
121366
Allele Counts in All Race (ExAC)
13
Heterozygous Counts in All Race (ExAC)
13
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.0711401875319282E-4
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