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

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The variants below are all in the CHEK2 database. 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.
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For a more detailed description of each field, please see the CHEK2 full legend here.

86 entries
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Exon

DNA change

DNA published

RNA change

Protein

Re-site

Frequency

Patients

Controls

DB-ID

Type

Location

Template

Technique

Tissue

Variant remarks

Reference


00	c.-122C>G	C to A transversion in 5'UTR	-	p.?	-	-	312/500	308/517	CHEK2_00067	Substitution	5' UTR	DNA, RNA	PCR, SEQ	blood and lung cancer cell	-	-
01	c.-48G>A	-48G>A	-	p.?	-	-	141/500	192/517	CHEK2_00066	Substitution	Exon	DNA, RNA	PCR, SEQ	blood and lung cancer cell	-	-
02	c.-6-5T>A (Reported 3 times)	IVS1-5T>A	-	-	-	-	1/631	0/683	CHEK2_00051	Substitution	Intron	DNA	DHPLC, PCR, SEQ	peripheral blood	we deduced that both variants might interfere with the binding of splicing factors.	-
02	c.7C>T (Reported 4 times)	-	-	p.Arg3Trp	-	-	-	-	CHEK2_00019	Substitution	Exon	DNA	PAGE, PCR, SEQ, Western	tumor	-	-
02	c.53G>A	-	-	p.Cys18Tyr	-	NA	-	-	CHEK2_00099	Substitution	Exon	DNA	PCR	unknown	-	-
02	c.73G>A	-	-	p.Val25Ile	-	NA	-	-	CHEK2_00098	Substitution	Exon	DNA	PCR	unknown	-	-
02	c.89G>A	-	-	p.Gly30Asp	-	NA	-	-	CHEK2_00097	Substitution	Exon	DNA	PCR	unknown	-	-
02	c.176C>A (Reported 2 times)	-	-	p.Thr59Lys	-	-	1/146	0/904	CHEK2_00020	Substitution	Exon	DNA	PCR, RT-PCR, SEQ, SSCA	tumor	-	-
02	c.190G>A (Reported 3 times)	-	-	p.Glu64Lys	-	-	1/698	0/423	CHEK2_00024	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-
02	c.245_260del	-	-	p.Asp82GlyfsX23	-	-	1/698	0/423	CHEK2_00025	Deletion	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-
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.283C>T	-	-	p.Arg95X	-	-	2/109	-	CHEK2_00054	Substitution	Exon	DNA, RNA	PCR, SEQ	tumor biopsies and blood lymphocytes	-	-
02	c.319+1G>A (Reported 19 times)	-	-	-	-	-	1/456	0/400	CHEK2_00027	Substitution	Intron	DNA	PCR, SEQ	unknown	The IVS10-129a/t is likely to be a neutral change because of its intronic location far from the splice-site positions.	-
02	c.319+1G>T	c.IVS2 + 1G>T	-	-	-	-	0.15%	0/683	CHEK2_00107	Substitution	Intron	DNA	DHPLC, PCR, SEQ	Peripheral blood	-	-
02	c.319+24T>C (Reported 3 times)	IVS2+24C>T	-	-	-	-	3/631	1/683	CHEK2_00106	Substitution	Intron	DNA	DHPLC, PCR, SEQ	peripheral blood	we deduced that both variants might interfere with the binding of splicing factors.	-
02	c.319+43_319+44insA	319+(43-44)insA	-	-	-	-	-	-	CHEK2_00023	Insertion	Intron	DNA	PCR, SEQ, SSCA	blood	-	-
02	c.319+44insA	319 + 44insA Common polymorphism	-	-	-	-	-	-	CHEK2_00007	Insertion	Intron	DNA	DSCA, IHC, PCR, SEQ	tumor tissue	-	-
03	c.320-55A>T	VS2-55C>T	-	-	-	-	-	-	CHEK2_00050	Substitution	Intron	DNA	mPCR, SEQ	lymphocytes	-	-
03	c.349A>G (Reported 4 times)	-	-	p.Arg117Gly	-	-	2/68 families	0/300	CHEK2_00004	Substitution	Exon	DNA	PCR, SEQ	EDTA-venous blood samples	Tumour DNA from the individual with this variant was available to investigate whether loss of heterozygosity is a mechanism by which this variant might confer susceptibility.	-
03	c.389T>A	-	-	p.Leu130Gln	-	NA	-	-	CHEK2_00096	Substitution	Exon	DNA	PCR	unknown	-	-
03	c.410G>A	-	-	p.Arg137Gln	-	-	2/68 families	0/300	CHEK2_00005	Substitution	Exon	DNA	PCR, SEQ	EDTA-venous blood samples	-	-
03	c.433C>T (Reported 4 times)	R145W	-	p.Arg145Trp	-	-	-	-	CHEK2_00014	Substitution	Exon	DNA	IHC, PCR, SEQ	tumor tissue	the proteins are unstable and functionally defective, and therefore likely represent classical loss-of-function mutants.	-
03	c.434G>A	-	-	p.Arg145Gln	-	-	1/631	0/683	CHEK2_00047	Substitution	Exon	DNA	DHPLC, PCR, SEQ	peripheral blood	The no- vel c.434G>A transition (R145Q) found in one CRC patient leads to the replacement of highly conservative Arg to Glu.	-
03	c.434G>C	-	-	p.Arg145Pro	-	-	1/698	0/423	CHEK2_00026	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-
03	c.443G>T	-	-	p.Arg148Met	-	NA	-	-	CHEK2_00095	Substitution	Exon	DNA	PCR	unknown	-	-
03	c.444+24C>T	Intron 2 444 + 24C	-	-	-	-	-	-	CHEK2_00008	Substitution	Intron	DNA	DSCA, IHC, PCR, SEQ	tumor tissue	-	-
04	c.470T>C (Reported 32 times)	-	-	p.Ile157Thr	-	-	-	-	CHEK2_00009	Substitution	Exon	DNA	DHPLC, RT-PCR, SEQ	lymphoblasts,fibroblasts	-	-
04	c.475T>C	c.475T>C	-	p.Tyr159His	-	-	0.15%	0/683	CHEK2_00068	Substitution	Exon	DNA	DHPLC, PCR, SEQ	Peripheral blood	-	-
04	c.479T>C	-	-	p.Ile160Thr	-	NA	-	-	CHEK2_00042	Substitution	Exon	DNA	PCR	unknown	-	-
04	c.499G>A (Reported 2 times)	-	-	p.Gly167Arg	-	-	1/698	0/423	CHEK2_00028	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-
04	c.500G>A	-	-	p.Gly167Glu	-	NA	-	-	CHEK2_00094	Substitution	Exon	DNA	PCR	unknown	-	-
04	c.514A>G	c.514A>G	-	p.Thr172Ala	-	-	0.15%	0/683	CHEK2_00069	Substitution	Exon	DNA	DHPLC, PCR, SEQ	Peripheral blood	-	-
04	c.520C>T	c.520C>T	-	p.Leu174Phe	-	-	0.15%	0/683	CHEK2_00070	Substitution	Exon	DNA	DHPLC, PCR, SEQ	Peripheral blood	-	-
04	c.538C>T (Reported 5 times)	-	-	p.Arg180Cys	-	-	0/698	1/423	CHEK2_00029	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-
04	c.539G>A (Reported 2 times)	-	-	p.Arg180His	-	-	1/68 families	0/300	CHEK2_00003	Substitution	Exon	DNA	PCR, SEQ	EDTA-venous blood samples	-	-
04	c.541C>T (Reported 3 times)	-	-	p.Arg181Cys	-	-	0/698	0/423	CHEK2_00030	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-
04	c.542G>A	-	-	p.Arg181His	-	-	1/698	0/423	CHEK2_00031	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-
04	c.556A>C	-	-	p.Asn186His	-	NA	-	-	CHEK2_00093	Substitution	Exon	DNA	PCR	unknown	-	-
05	c.662T>C	-	-	p.Ile221Thr	-	NA	-	-	CHEK2_00092	Substitution	Exon	DNA	PCR	unknown	-	-
06	c.715G>A (Reported 3 times)	-	-	p.Glu239Lys	-	-	1/698	0/423	CHEK2_00033	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	All five mutations changed amino acids in either the FHA (forkhead homology-associated) or the kinase activation domain of CHK2, which have previously been shown to be important for protein-protein interaction and phosphorylation of p53 in DNA-damage-signaling.	-
06	c.715G>T	-	-	p.Glu239X	-	-	1/698	0/423	CHEK2_00032	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	All five mutations changed amino acids in either the FHA (forkhead homology-associated) or the kinase activation domain of CHK2, which have previously been shown to be important for protein-protein interaction and phosphorylation of p53 in DNA-damage-signaling.	-
06	c.727T>C	-	-	p.Cys243Arg	-	NA	-	-	CHEK2_00091	Substitution	Exon	DNA	PCR	unknown	-	-
06	c.751A>T (Reported 2 times)	-	-	p.Ile251Phe	-	-	1/698	0/423	CHEK2_00034	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-
09	c.952C>T	-	-	p.Arg318Cys	-	NA	-	-	CHEK2_00090	Substitution	Exon	DNA	PCR	unknown	-	-
09	c.953G>A (Reported 2 times)	G954A	-	p.Arg318His	-	-	0/698	0/423	CHEK2_00035	Substitution	Exon	DNA	RT-PCR, SEQ, Southern, SSCA, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-
09	c.961G>A	c.961G>A	-	p.Glu321Lys	-	-	-	-	CHEK2_00044	Substitution	Exon	DNA	DHPLC, PCR, SEQ, Western	primary prostate tumor tissue	somatic CHEK2 mutations	-
09	c.967A>C (Reported 2 times)	-	-	p.Thr323Pro	-	-	0/698	0/423	CHEK2_00036	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-
09	c.980A>G	-	-	p.Tyr327Cys	-	-	1/698	0/423	CHEK2_00037	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-
10	c.1009-200T>A	CHEK2 intron9 -200G>A	-	-	-	-	-	-	CHEK2_00103	Substitution	Intron	DNA	PCR, SEQ	blood	an increased risk of breast, colon, kidney, prostate and thyroid cancer leading to the suggestion that CHEK2 is a multi-site cancer gene	-
10	c.1027A>G	-	-	p.Ile343Val	-	NA	-	-	CHEK2_00089	Substitution	Exon	DNA	PCR	unknown	-	-
10	c.1039G>A	-	-	p.Asp347Asn	-	NA	-	-	CHEK2_00088	Substitution	Exon	DNA	PCR	unknown	-	-
10	c.1091T>C	-	-	p.Ile364Thr	-	-	1/109	-	CHEK2_00053	Substitution	Exon	DNA, RNA	PCR, SEQ	tumor biopsies and blood 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.1100 delC	c.1100 delC	-	p.Thr367MetfsX15	-	-	-	-	CHEK2_00045	Deletion	Exon	DNA	DHPLC, PCR, SEQ, Western	primary prostate tumor tissue	-	lovddeng
11	c.1100del (Reported 14 times)	1100delC	-	p.Thr367MetfsX15	-	-	-	-	CHEK2_00040	Deletion	Exon	DNA	PAGE, PCR, SEQ	blood	It was also reported by Kilpivaara et al. (2003) that the 1100delC variant is not associated with colon cancer	-
11	c.1100delC (Reported 48 times)	c.1100delC	-	p.Thr367MetfsX15	-	-	0/54	0/146	CHEK2_00001	Deletion	Exon	DNA	DGGE, SEQ	unknown	the low carrier frequency of CHEK2*1100delC observed in the Ashkenazi Jewish population suggests that even with a 10-fold increased risk of male breast cancer,this variant would account for a relatively small proportion (no more than 3%) of all cases in Israel.	lovddeng
11	c.1111C>T	1111C>T(His371Tyr)	-	p.His371Tyr	-	-	1/74	0/50	CHEK2_00042	Substitution	Exon	DNA	PCR, SEQ	peripheral EDTA blood	This is highly likely to be disease-associated, because it is located in a kinase domain, near to the 1100delC mutation.	-
11	c.1115C>T	-	-	p.Ser372Phe	-	NA	-	-	CHEK2_00087	Substitution	Exon	DNA	PCR	unknown	-	-
11	c.1117A>G	-	-	p.Lys373Glu	-	NA	-	-	CHEK2_00086	Substitution	Exon	DNA	PCR	unknown	-	-
11	c.1139_1140del	c.1140-1141DelTC , on CHEK2 exon 10 (p.L380FsX393)	-	p.Leu380HisfsX14	-	-	-	-	CHEK2_00104	Deletion	Exon	DNA	PCR	blood	T386Fs and R475Fs. In consequence, it can be reasonably postulated that this 2 bpdeletion is a complete loss-of-function mutation, generating an inactive CHEK2 kinase.	-
11	c.1154G>A	-	-	p.Cys385Tyr	-	NA	-	-	CHEK2_00085	Substitution	Exon	DNA	PCR	unknown	-	-
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 (Reported 3 times)	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 3 times)	CHEK2.S428F	-	p.Ser428Phe	-	-	-	-	CHEK2_00046	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.	-
12	c.1306C>A	-	-	p.Leu436Met	-	NA	-	-	CHEK2_00084	Substitution	Exon	DNA	PCR	unknown	-	-
12	c.1312G>T (Reported 3 times)	1312G>T D438Y	-	p.Asp438Tyr	-	-	-	-	CHEK2_00058	Substitution	Exon	DNA	PCR, SEQ, SSCA	blood	-	-
12	c.1338C>A	-	-	p.Asn446Lys	-	NA	-	-	CHEK2_00083	Substitution	Exon	DNA	PCR	unknown	-	-
12	c.1339T>A	-	-	p.Phe447Ile	-	NA	-	-	CHEK2_00082	Substitution	Exon	DNA	PCR	unknown	-	-
12	c.1343T>G	-	-	p.Ile448Ser	-	C=0.011/4	-	-	CHEK2_00081	Substitution	Exon	DNA	PCR	unknown	-	-
12	c.1352T>C	-	-	p.Val451Ala	-	NA	-	-	CHEK2_00080	Substitution	Exon	DNA	PCR	unknown	-	-
12	c.1375+78C>G	1375+78C	-	-	-	-	-	-	CHEK2_00010	Substitution	Intron	DNA	IHC, PCR, SEQ	tumor tissue	-	-
13	c.1425del (Reported 2 times)	-	-	p.Phe475LeufsX7	-	-	-	-	CHEK2_00016	Deletion	Exon	DNA	DHPLC, RT-PCR, SEQ	lymphoblasts,lymphoblasts	-	-
13	c.1427C>A (Reported 2 times)	C1427A	-	p.Thr476Lys	-	-	0/698	0/423	CHEK2_00038	Substitution	Exon	DNA	RT-PCR, Western	blood, tumor tissues, and cell lines	These mutations were considered to most likely be germline mutations, since they were present in both tumor and matched normal prostate tissues.	-
13	c.1427C>T	-	-	p.Thr476Met	-	NA	-	-	CHEK2_00079	Substitution	Exon	DNA	PCR	unknown	-	-
13	c.1461+1887A>G	rs5762746	-	-	-	-	364	761	CHEK2_00052	Substitution	Intron	DNA	SEQ	Blood	SNPs from multiple genes related to DNA damage repair provide complementary information for characterizing ovarian cancer risk.	-
14	c.1462-211A>G	1462-211 A-G	-	-	-	-	-	-	CHEK2_00011	Substitution	Intron	DNA	IHC, PCR, SEQ	tumor tissue	-	-
14	c.1462-198C>T	1462-198 C	-	-	-	-	-	-	CHEK2_00012	Substitution	Intron	DNA	IHC, PCR, SEQ	tumor tissue	-	-
14	c.1462-25A>G	1462-25 A-G	-	-	-	-	-	-	CHEK2_00013	Substitution	Intron	DNA	IHC, PCR, SEQ	tumor tissue	-	-
14	c.1489G>A	-	-	p.Asp497Asn	-	NA	-	-	CHEK2_00078	Substitution	Exon	DNA	PCR	unknown	-	-
14	c.1501G>A	-	-	p.Glu501Lys	-	NA	-	-	CHEK2_00077	Substitution	Exon	DNA	PCR	unknown	-	-
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.	-
14	c.1534C>G	-	-	p.Leu512Val	-	NA	-	-	CHEK2_00076	Substitution	Exon	DNA	PCR	unknown	-	-
15	c.1567C>T	-	-	p.Arg523Cys	-	NA	-	-	CHEK2_00075	Substitution	Exon	DNA	PCR	unknown	-	-
15	c.1582G>A	-	-	p.Glu528Lys	-	NA	-	-	CHEK2_00074	Substitution	Exon	DNA	PCR	unknown	-	-

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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)