chr22:29083949:C>T Detail (hg19) (CHEK2)

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

Genome

Assembly	Position
hg19	chr22:29,083,949-29,083,949
hg38	chr22:28,687,961-28,687,961 View the variant detail on this assembly version.

HGVS

CHEK2

Type	Transcript	Protein
RefSeq	NM_001005735.1:c.1697G>A	NP_001005735.1:p.Arg566His
	NM_001257387.1:c.1481G>A	NP_001244316.1:p.Arg494His
	NM_145862.2:c.1481G>A	NP_665861.1:p.Arg494His
Ensemble	ENST00000402731.6:c.1367G>A	ENST00000402731.6:p.Arg456His
	ENST00000405598.5:c.1568G>A	ENST00000405598.5:p.Arg523His
	ENST00000403642.5:c.1295G>A	ENST00000403642.5:p.Arg432His
	ENST00000382580.6:c.1697G>A	ENST00000382580.6:p.Arg566His
	ENST00000404276.6:c.1568G>A	ENST00000404276.6:p.Arg523His
	ENST00000348295.7:c.1481G>A	ENST00000348295.7:p.Arg494His
	ENST00000425190.7:c.905G>A	ENST00000425190.7:p.Arg302His
	ENST00000464581.6:c.908G>A	ENST00000464581.6:p.Arg303His
	ENST00000650281.1:c.1568G>A	ENST00000650281.1:p.Arg523His
	ENST00000649563.1:c.905G>A	ENST00000649563.1:p.Arg302His

Summary

MGeND

Clinical significance	Uncertain significance
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Uncertain significance	2018/01/13	breast, unspecified	germline	MGS000028 (TMGS000049)	Yukihide Momozawa	RIKEN	30287823

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2023-11-05	criteria provided, single submitter	Familial cancer of breast	germline	Detail
Conflicting interpretations of pathogenicity	2021-11-22	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2023-08-25	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) AND Familial cancer of breast	ClinVar	Detail
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) AND not provided	ClinVar	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: rs948928965 dbSNP
Genome: hg19
Position: chr22:29,083,949-29,083,949
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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