chr22:28725028:G>A Detail (hg38) (CHEK2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr22:29,121,016-29,121,016 View the variant detail on this assembly version.
hg38	chr22:28,725,028-28,725,028

HGVS

CHEK2

Type	Transcript	Protein
RefSeq	NM_001257387.1:c.541C>T	NP_001244316.1:p.Arg181Cys
	NM_145862.2:c.541C>T	NP_665861.1:p.Arg181Cys
	NM_001005735.1:c.670C>T	NP_001005735.1:p.Arg224Cys
Ensemble	ENST00000348295.7:c.541C>T	ENST00000348295.7:p.Arg181Cys
	ENST00000382580.6:c.670C>T	ENST00000382580.6:p.Arg224Cys
	ENST00000402731.6:c.445-105C>T
	ENST00000403642.5:c.320-5543C>T
	ENST00000404276.6:c.541C>T	ENST00000404276.6:p.Arg181Cys
	ENST00000405598.5:c.541C>T	ENST00000405598.5:p.Arg181Cys
	ENST00000425190.7:c.-123C>T
	ENST00000649563.1:c.-71-5543C>T
	ENST00000650281.1:c.541C>T	ENST00000650281.1:p.Arg181Cys

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	Uncertain significance
Review star
Show details

Links

CHEK2

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	tgv236584396	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2003-02-01	no assertion criteria provided	Prostate cancer, somatic	somatic	Detail
Uncertain significance	2023-05-05	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2024-01-28	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Uncertain significance	2023-06-13	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Uncertain significance	2023-08-15	criteria provided, multiple submitters, no conflicts	not specified	germline	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
0.138	Malignant neoplasm of prostate	Mutations in CHEK2 associated with prostate cancer risk.	UNIPROT	12533788	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) AND Prostate cancer, somatic	ClinVar	Detail
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) AND Familial cancer of breast	ClinVar	Detail
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) AND not provided	ClinVar	Detail
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) AND not specified	ClinVar	Detail
NA	DisGeNET	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: rs137853010 dbSNP
Genome: hg38
Position: chr22:28,725,028-28,725,028
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8648
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): 121352
Allele Counts in All Race (ExAC): 12
Heterozygous Counts in All Race (ExAC): 12
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 9.888588568791614E-5

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