chr22:29090054:G>A Detail (hg19) (CHEK2)

Information

Genome

Assembly Position
hg19 chr22:29,090,054-29,090,054
hg38 chr22:28,694,066-28,694,066 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001257387.1:c.1340C>T NP_001244316.1:p.Thr447Met
NM_145862.2:c.1340C>T NP_665861.1:p.Thr447Met
NM_001005735.1:c.1556C>T NP_001005735.1:p.Thr519Met
Summary

MGeND

Clinical significance Pathogenic other
Variant entry 3
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 Conflicting classifications of pathogenicity
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
other Primary malignant neoplasm of extrahepatic bile duct (disorder) unknown MGS000023
(TMGS000082) 		Manabu Muto Kyoto University
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
Conflicting interpretations of pathogenicity 2024-01-17 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2024-02-13 criteria provided, conflicting interpretations Familial cancer of breast germline maternal unknown Detail
Uncertain significance 2015-11-20 criteria provided, single submitter Breast and colorectal cancer, susceptibility to germline Detail
Conflicting interpretations of pathogenicity 2024-03-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2016-06-14 criteria provided, single submitter colorectal cancer germline Detail
Likely pathogenic 2016-06-14 criteria provided, single submitter Breast neoplasm germline Detail
Uncertain significance 2024-02-06 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance no assertion criteria provided unknown Detail
Likely pathogenic 2021-08-16 no assertion criteria provided germline Detail
Likely pathogenic 2021-08-19 no assertion criteria provided breast carcinoma germline Detail
Uncertain significance 2023-05-26 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Conflicting interpretations of pathogenicity 2024-05-27 criteria provided, conflicting interpretations Li-Fraumeni syndrome 2 germline Detail
Likely pathogenic 2023-06-13 criteria provided, single submitter CHEK2-related disorder germline Detail
Likely pathogenic 2017-04-27 criteria provided, single submitter 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.1427C>T (p.Thr476Met) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND Familial cancer of breast ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND Breast and colorectal cancer, susceptibility to ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND not provided ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND Colorectal cancer ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND Breast neoplasm ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND not specified ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND Malignant tumor of breast ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND Colon cancer ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND Breast carcinoma ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND Breast and/or ovarian cancer ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND Li-Fraumeni syndrome 2 ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) AND CHEK2-related disorder ClinVar Detail
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) 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
rs142763740 dbSNP
Genome
hg19
Position
chr22:29,090,054-29,090,054
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8232
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)
113468
Allele Counts in All Race (ExAC)
43
Heterozygous Counts in All Race (ExAC)
43
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.7896146931293403E-4
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