chr22:28725027:C>T Detail (hg38) (CHEK2)

Information

Genome

Assembly Position
hg19 chr22:29,121,015-29,121,015 View the variant detail on this assembly version.
hg38 chr22:28,725,027-28,725,027

HGVS

Type Transcript Protein
RefSeq NM_001257387.1:c.542G>A NP_001244316.1:p.Arg181His
NM_145862.2:c.542G>A NP_665861.1:p.Arg181His
NM_001005735.1:c.671G>A NP_001005735.1:p.Arg224His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 tgv65644196 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2021-02-10 criteria provided, conflicting interpretations not provided germline Detail
Conflicting interpretations of pathogenicity 2022-09-30 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2024-01-19 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter bone osteosarcoma,Li-Fraumeni syndrome 2,Familial cancer of breast,Malignant tumor of prostate unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter bone osteosarcoma,Li-Fraumeni syndrome 2,Familial cancer of breast,Malignant tumor of prostate unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter bone osteosarcoma,Li-Fraumeni syndrome 2,Familial cancer of breast,Malignant tumor of prostate unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter bone osteosarcoma,Li-Fraumeni syndrome 2,Familial cancer of breast,Malignant tumor of prostate unknown Detail
Uncertain significance 2019-05-01 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Likely benign 2024-02-06 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2019-05-28 criteria provided, single submitter Li-Fraumeni syndrome 2 maternal Detail
Uncertain significance no assertion criteria provided unknown Detail
Likely benign 2022-11-23 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic 2003-02-01 no assertion criteria provided Malignant tumor of prostate germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter CHEK2-related cancer predisposition germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.138 Malignant neoplasm of prostate Mutations in CHEK2 associated with prostate cancer risk. UNIPROT 12533788 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND not provided ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND Familial cancer of breast ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND not specified ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND Li-Fraumeni syndrome 2 ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND Malignant tumor of breast ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND Breast and/or ovarian cancer ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND Malignant tumor of prostate ClinVar Detail
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) AND CHEK2-related cancer predisposition ClinVar Detail
NA DisGeNET Detail
Mutations in CHEK2 associated with prostate cancer risk. 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
rs121908701 dbSNP
Genome
hg38
Position
chr22:28,725,027-28,725,027
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs121908701
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0007
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
10
East Asian Heterozygous Counts (ExAC)
10
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.001156336725254394
Chromosome Counts in All Race (ExAC)
121350
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)
1.0712814173877215E-4
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