chr22:29091228:A> Detail (hg19) (CHEK2)

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

Information

Genome

Assembly	Position
hg19	chr22:29,091,228-29,091,228
hg38	chr22:28,695,240-28,695,240

HGVS

CHEK2

Type	Transcript	Protein
RefSeq	NM_001257387.1:c.1175delT	NP_001244316.1:p.Ser393ValfsTer15
	NM_145862.2:c.1175delT	NP_665861.1:p.Ser393ValfsTer15
	NM_001005735.1:c.1391delT	NP_001005735.1:p.Ser465ValfsTer15
Ensemble	ENST00000348295.7:c.1175delT	ENST00000348295.7:p.Ser393ValfsTer15
	ENST00000382580.6:c.1391delT	ENST00000382580.6:p.Ser465ValfsTer15
	ENST00000402731.6:c.1061delT	ENST00000402731.6:p.Ser355ValfsTer15
	ENST00000403642.5:c.989delT	ENST00000403642.5:p.Ser331ValfsTer15
	ENST00000404276.6:c.1262delT	ENST00000404276.6:p.Ser422ValfsTer15
	ENST00000405598.5:c.1262delT	ENST00000405598.5:p.Ser422ValfsTer15
	ENST00000425190.7:c.599delT	ENST00000425190.7:p.Ser201ValfsTer15
	ENST00000464581.6:c.602delT	ENST00000464581.6:p.Ser202ValfsTer15
	ENST00000649563.1:c.599delT	ENST00000649563.1:p.Ser201ValfsTer15
	ENST00000650281.1:c.1262delT	ENST00000650281.1:p.Ser422ValfsTer15

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	2023-12-11	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-29	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Pathogenic	2022-02-10	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2017-01-26	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Likely pathogenic		no assertion criteria provided	Malignant tumor of prostate	germline	Detail
Pathogenic	2022-05-05	criteria provided, single submitter	Predisposition to cancer	germline	Detail
Pathogenic	2022-02-17	criteria provided, single submitter	colorectal cancer,Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast,Li-Fraumeni syndrome 2	unknown	Detail
Pathogenic	2022-02-17	criteria provided, single submitter	colorectal cancer,Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast,Li-Fraumeni syndrome 2	unknown	Detail
Pathogenic	2022-02-17	criteria provided, single submitter	colorectal cancer,Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast,Li-Fraumeni syndrome 2	unknown	Detail
Pathogenic	2022-02-17	criteria provided, single submitter	colorectal cancer,Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast,Li-Fraumeni syndrome 2	unknown	Detail
Pathogenic	2022-02-17	criteria provided, single submitter	colorectal cancer,Malignant tumor of prostate,bone osteosarcoma,Familial cancer of breast,Li-Fraumeni syndrome 2	unknown	Detail
Pathogenic	2022-02-28	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2023-04-28	criteria provided, single submitter	Li-Fraumeni syndrome 2	germline unknown	Detail
Likely pathogenic	2018-11-01	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

Descrption	Source	Links
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND Familial cancer of breast	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND not provided	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND Malignant tumor of prostate	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND Predisposition to cancer	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND multiple conditions	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND multiple conditions	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND multiple conditions	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND multiple conditions	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND multiple conditions	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) AND Li-Fraumeni syndrome 2	ClinVar	Detail
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) 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: rs587780174 dbSNP
Genome: hg19
Position: chr22:29,091,228-29,091,228
Variant Type: snv
Reference Allele: A
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8498
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): 115238
Allele Counts in All Race (ExAC): 6
Heterozygous Counts in All Race (ExAC): 6
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 5.206615873236259E-5

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