chr22:28694066: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	chr22:29,090,054-29,090,054 View the variant detail on this assembly version.
hg38	chr22:28,694,066-28,694,066

HGVS

CHEK2

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
Ensemble	ENST00000348295.7:c.1340C>T	ENST00000348295.7:p.Thr447Met
	ENST00000382580.6:c.1556C>T	ENST00000382580.6:p.Thr519Met
	ENST00000402731.6:c.1226C>T	ENST00000402731.6:p.Thr409Met
	ENST00000403642.5:c.1154C>T	ENST00000403642.5:p.Thr385Met
	ENST00000404276.6:c.1427C>T	ENST00000404276.6:p.Thr476Met
	ENST00000405598.5:c.1427C>T	ENST00000405598.5:p.Thr476Met
	ENST00000425190.7:c.764C>T	ENST00000425190.7:p.Thr255Met
	ENST00000464581.6:c.767C>T	ENST00000464581.6:p.Thr256Met
	ENST00000649563.1:c.764C>T	ENST00000649563.1:p.Thr255Met
	ENST00000650281.1:c.1427C>T	ENST00000650281.1:p.Thr476Met

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	Conflicting classifications of pathogenicity
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	tgv65642538	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	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

Descrption	Source	Links
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: hg38
Position: chr22:28,694,066-28,694,066
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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