chr22:28734445: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	chr22:29,130,433-29,130,433
hg38	chr22:28,734,445-28,734,445

HGVS

CHEK2

Type	Transcript	Protein
RefSeq	NM_001257387.1:c.277delT	NP_001244316.1:p.Trp93GlyfsTer17
	NM_145862.2:c.277delT	NP_665861.1:p.Trp93GlyfsTer17
	NM_001005735.1:c.277delT	NP_001005735.1:p.Trp93GlyfsTer44
Ensemble	ENST00000348295.7:c.277delT	ENST00000348295.7:p.Trp93GlyfsTer17
	ENST00000382580.6:c.277delT	ENST00000382580.6:p.Trp93GlyfsTer44
	ENST00000402731.6:c.277delT	ENST00000402731.6:p.Trp93GlyfsTer17
	ENST00000403642.5:c.277delT	ENST00000403642.5:p.Trp93GlyfsTer21
	ENST00000404276.6:c.277delT	ENST00000404276.6:p.Trp93GlyfsTer17
	ENST00000405598.5:c.277delT	ENST00000405598.5:p.Trp93GlyfsTer17
	ENST00000425190.7:c.-345+7324delT
	ENST00000649563.1:c.-72+7324delT
	ENST00000650281.1:c.277delT	ENST00000650281.1:p.Trp93GlyfsTer17

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	2022-04-25	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-01-09	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Pathogenic	2023-06-13	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2022-10-07	criteria provided, single submitter	Li-Fraumeni syndrome 2	unknown	Detail
Pathogenic	2022-12-05	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
not provided		no assertion provided	CHEK2-related cancer predisposition	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.277del (p.Trp93fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007194.4(CHEK2):c.277del (p.Trp93fs) AND Familial cancer of breast	ClinVar	Detail
NM_007194.4(CHEK2):c.277del (p.Trp93fs) AND not provided	ClinVar	Detail
NM_007194.4(CHEK2):c.277del (p.Trp93fs) AND Li-Fraumeni syndrome 2	ClinVar	Detail
NM_007194.4(CHEK2):c.277del (p.Trp93fs) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007194.4(CHEK2):c.277del (p.Trp93fs) 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: rs786203458 dbSNP
Genome: hg38
Position: chr22:28,734,445-28,734,445
Variant Type: snv
Reference Allele: A
Alternative Allele: -

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