Search unique variants - Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)

Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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The variants below are all in the CHEK2 database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the CHEK2 full legend here.

17 entries
entries per page

Exon

DNA change

DNA published

RNA change

Protein

Re-site

Frequency

Patients

Controls

DB-ID

Type

Location

Template

Technique

Tissue

Variant remarks

Reference


02	c.7C>T (Reported 3 times)	R3W	-	p.Arg3Trp	-	-	-	-	CHEK2_00019	Substitution	Exon	DNA	PCR, SEQ	peripheral blood & tumor samples	the mutations of the CHEK2 gene that have been associated with breast cancer (del1100C, R3W, R145W, and I157T) are rare in familial breast cancer syndromes in Spain, which confirms the limited relevance of CHEK2 screening in genetic testing.	-
02	c.252A>G (Reported 7 times)	252A	-	p.Glu84Glu	-	-	-	-	CHEK2_00006	Substitution	Exon	DNA	DSCA, IHC, PCR, SEQ	tumor tissue	-	-
02	c.254C>T	CHEK2.P85L	-	p.Pro85Leu	-	-	-	-	CHEK2_00043	Substitution	Exon	DNA	PCR, RT-PCR, SEQ	peripheral blood	Haplotypes at CHEK2 in this population may be instructive in designing the efficient strategies for identifying novel breast cancer genes.	-
02	c.319+1G>A	CHEK2 IVS2+1G>A	-	-	-	-	-	-	CHEK2_00027	Substitution	Intron	DNA	PCR	blood	this study does not support the contribution of CHEK2 in OC risk, while the role of NBS1 heterozygosity may require further clarification.	-
03	c.320-55A>T	VS2-55C>T	-	-	-	-	-	-	CHEK2_00050	Substitution	Intron	DNA	mPCR, SEQ	lymphocytes	-	-
03	c.433C>T	R145W	-	p.Arg145Trp	-	-	-	-	CHEK2_00048	Substitution	Exon	DNA	PCR, SEQ	peripheral blood & tumor samples	the mutations of the CHEK2 gene that have been associated with breast cancer (del1100C, R3W, R145W, and I157T) are rare in familial breast cancer syndromes in Spain, which confirms the limited relevance of CHEK2 screening in genetic testing.	-
04	c.470T>C (Reported 3 times)	missense variation I157T (470T>C) in exon 3	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood	CHEK2 is not a target tumor suppressor gene in chromosome 22q in astrocytomas but might possibly play a modifying role along the involved pathways. The present results warrant further studies, also at the germline level.	-
04	c.538C>T (Reported 2 times)	-	-	p.Arg180Cys	-	-	-	-	CHEK2_00029	Substitution	Exon	DNA	BESS, mPCR, RT-PCR, SEQ, SSCA	lymphocytes	-	-
11	c.? (Reported 2 times)	E394F	-	p.Glu394Phe	-	-	-	-	CHEK2_00055	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood lymphocytes	germline CHEK2 mutations have a minor role in PRCA susceptibility in AJ men.	-
11	c.1100del (Reported 7 times)	1100delC	-	p.Thr367MetfsX15	-	-	-	-	CHEK2_00040	Deletion	Exon	DNA	PCR, SEQ	blood	It had been hypothesized that the occurrence of CHEK2 c.1100delC allele depends on the geographical area and/or ethnical characteristics of populations	-
11	c.1100delC (Reported 13 times)	c.1100delC	-	p.Thr367MetfsX15	-	1.5%	8/551	9/644	CHEK2_00001	Deletion	Exon	DNA	IHC, MAPH, PCR	tumour and biopsy samples	our study of a large and unselected series of Barrett	lovddeng
11	c.1217G>A	novel missense variant, 1217G>A (R406H)	-	p.Arg406His	-	-	-	-	CHEK2_00061	Substitution	Exon	DNA	PCR, SEQ	blood	The novel CHEK2 missense variant identified in this study, R406H, is unlikely to contribute to breast cancer risk in French Canadian women.	-
11	c.1270T>C	Y424H	-	p.Tyr424His	-	-	-	-	CHEK2_00057	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood lymphocytes	germline CHEK2 mutations have a minor role in PRCA susceptibility in AJ men.	-
12	c.1283C>T (Reported 2 times)	S428F	-	p.Ser428Phe	-	-	-	-	CHEK2_00046	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood lymphocytes	germline CHEK2 mutations have a minor role in PRCA susceptibility in AJ men.	-
12	c.1312G>T (Reported 2 times)	D438Y	-	p.Asp438Tyr	-	-	-	-	CHEK2_00058	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood lymphocytes	germline CHEK2 mutations have a minor role in PRCA susceptibility in AJ men.	-
14	c.1525C>T (Reported 2 times)	P509S	-	p.Pro509Ser	-	-	-	-	CHEK2_00059	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood lymphocytes	germline CHEK2 mutations have a minor role in PRCA susceptibility in AJ men.	-
14	c.1526C>T (Reported 2 times)	P509L	-	p.Pro509Leu	-	-	-	-	CHEK2_00060	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood lymphocytes	germline CHEK2 mutations have a minor role in PRCA susceptibility in AJ men.	-

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Legend: [ CHEK2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA published: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. Patients: Patients Controls: Controls CHEK2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Type: Type of variant at DNA level. Location: Variant location at DNA level. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Tissue: Tissue type the variant was detected in. Variant remarks: Variant remarks Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database.

Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)

checkpoint kinase 2 (CHEK2)