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

Go to:

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

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

CHEK2

Type	Transcript	Protein
RefSeq	NM_001257387.1:c.444+1G>T
	NM_145862.2:c.444+1G>T
	NM_001005735.1:c.573+1G>T
Ensemble	ENST00000348295.7:c.444+1G>T
	ENST00000382580.6:c.573+1G>T
	ENST00000402731.6:c.444+1G>T
	ENST00000403642.5:c.320-5757G>T
	ENST00000404276.6:c.444+1G>T
	ENST00000405598.5:c.444+1G>T
	ENST00000425190.7:c.-220+1G>T
	ENST00000649563.1:c.-71-5757G>T
	ENST00000650281.1:c.444+1G>T

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 Likely pathogenic
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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2016-01-06	criteria provided, single submitter	not provided	germline	Detail
Pathogenic Likely pathogenic	2024-01-10	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Likely pathogenic	2024-02-05	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	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

Annotation

Annotations

Descrption	Source	Links
NM_007194.4(CHEK2):c.444+1G>T AND not provided	ClinVar	Detail
NM_007194.4(CHEK2):c.444+1G>T AND Familial cancer of breast	ClinVar	Detail
NM_007194.4(CHEK2):c.444+1G>T AND Hereditary cancer-predisposing syndrome	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: A
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): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.239539904091756E-6

Genome browser