Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
CHEK2 (checkpoint kinase 2)
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Unique variants in the CHEK2 gene
The variants shown are described using the NM_007194.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Reported
: The number of times this variant has been reported in the database.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Type
: Type of variant at DNA level; note that the variant type can also be derived from the variant description (for all levels).
All options:
Substitution
Deletion
Duplication
Insertion
Inversion
Insertion/Deletion
Translocation
Other/Complex
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Variant remarks
: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
ClassClinical
: ClassClinical
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
86 entries on 1 page. Showing entries 1 - 86.
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How to query
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
1
00
c.-122C>G
-
p.?
Substitution
-
GenBank
CHEK2_00067
-
C to A transversion in 5'UTR
-
Qi Ming
./.
1
01
c.-48G>A
-
p.?
Substitution
-
GenBank
CHEK2_00066
-
-48G>A
-
Qi Ming
./.
3
02
c.-6-5T>A
-
p.?
Substitution
-
GenBank
CHEK2_00071, CHEK2_00051
-
IVS1-5T>A
-
Qi Ming
./.
1
02
c.319+44insA
-
-
Insertion
-
GenBank
CHEK2_00007
-
319 + 44insA Common polymorphism
-
Qi Ming
./.
2
11
c.?
-
p.Glu394Phe, c.Glu394Phe
Substitution
-
GenBank
CHEK2_00055, CHEK2_00064
-
E394F, E394F
-
Qi Ming
./.
4
02
c.7C>T
-
p.Arg3Trp
Substitution
-
GenBank
CHEK2_00019
-
-, R3W
-
Qi Ming
./.
1
02
c.53G>A
-
p.Cys18Tyr
Substitution
-
GenBank
CHEK2_00099
NA
-
-
Qi Ming
./.
1
02
c.73G>A
-
p.Val25Ile
Substitution
-
GenBank
CHEK2_00098
NA
-
-
Qi Ming
./.
1
02
c.89G>A
-
p.Gly30Asp
Substitution
-
GenBank
CHEK2_00097
NA
-
-
Qi Ming
./.
2
02
c.176C>A
-
p.Thr59Lys
Substitution
-
GenBank
CHEK2_00020
NA
-
-
Qi Ming
./.
3
02
c.190G>A
-
p.Glu64Lys
Substitution
-
GenBank
CHEK2_00024
NA
-, c.190G>A
-
Qi Ming
./.
1
02
c.245_260del
-
p.Asp82GlyfsX23
Deletion
-
GenBank
CHEK2_00025
-
-
-
Qi Ming
./.
7
02
c.252A>G
-
p.Glu84Glu
Substitution
-
GenBank
CHEK2_00006
-
252A , -, the silent polymorphism 252A>G , the A252G silent variant in exon 1,
1 more item
-
Qi Ming
./.
1
02
c.254C>T
-
p.Pro85Leu
Substitution
-
GenBank
CHEK2_00043
-
CHEK2.P85L
-
Qi Ming
./.
1
02
c.283C>T
-
p.Arg95X
Substitution
-
GenBank
CHEK2_00054
-
-
-
Qi Ming
./.
19
02
c.319+1G>A
-
-
Substitution
-
GenBank
CHEK2_00027, CHEK2_00049
-
IVS2+1G>A (fs154X) , IVS2+1G>A , -, IVS2+G > A, IVS2 + G>A, IVS2+1G>A fs154X,
4 more items
-
Qi Ming
./.
1
02
c.319+1G>T
-
-
Substitution
-
GenBank
CHEK2_00107
-
c.IVS2 + 1G>T
-
Qi Ming
./.
3
02
c.319+24T>C
-
-
Substitution
-
GenBank
CHEK2_00106
-
c.IVS2 + 24C>T, IVS2+24C>T
-
Qi Ming
./.
1
02
c.319+43_319+44insA
-
-
Insertion
-
GenBank
CHEK2_00023
-
319+(43-44)insA
-
Qi Ming
./.
1
03
c.320-55A>T
-
-
Substitution
-
GenBank
CHEK2_00050
-
VS2-55C>T
-
Qi Ming
./.
4
03
c.349A>G
-
p.Arg117Gly
Substitution
-
GenBank
CHEK2_00004
NA
c.349A>G R117G, -, c.349A>G
-
Qi Ming
./.
1
03
c.389T>A
-
p.Leu130Gln
Substitution
-
GenBank
CHEK2_00096
NA
-
-
Qi Ming
./.
1
03
c.410G>A
-
p.Arg137Gln
Substitution
-
GenBank
CHEK2_00005
-
-
-
Qi Ming
./.
4
03
c.433C>T
-
p.Arg145Trp
Substitution
-
GenBank
CHEK2_00014, CHEK2_00048
-
R145W, -
-
Qi Ming
./.
1
03
c.434G>A
-
p.Arg145Gln
Substitution
-
GenBank
CHEK2_00047
-
-
-
Qi Ming
./.
1
03
c.434G>C
-
p.Arg145Pro
Substitution
-
GenBank
CHEK2_00026
-
-
-
Qi Ming
./.
1
03
c.443G>T
-
p.Arg148Met
Substitution
-
GenBank
CHEK2_00095
NA
-
-
Qi Ming
./.
1
03
c.444+24C>T
-
-
Substitution
-
GenBank
CHEK2_00008
-
Intron 2 444 + 24C
-
Qi Ming
./.
32
04
c.470T>C
-
p.Ile157Thr
Substitution
-
GenBank
CHEK2_00009, CHEK2_00039, CHEK2_00063
7.8%, 33/482
c.470T>C I157T, I157T, -, 470T , 470T4C substitution, 430T>C variant (IleI57Thr) , T430C,
7 more items
-
Qi Ming
./.
1
04
c.475T>C
-
p.Tyr159His
Substitution
-
GenBank
CHEK2_00068
-
c.475T>C
-
Qi Ming
./.
1
04
c.479T>C
-
p.Ile160Thr
Substitution
-
GenBank
CHEK2_00042
NA
-
-
Qi Ming
./.
2
04
c.499G>A
-
p.Gly167Arg
Substitution
-
GenBank
CHEK2_00028
NA
-
-
Qi Ming
./.
1
04
c.500G>A
-
p.Gly167Glu
Substitution
-
GenBank
CHEK2_00094
NA
-
-
Qi Ming
./.
1
04
c.514A>G
-
p.Thr172Ala
Substitution
-
GenBank
CHEK2_00069
-
c.514A>G
-
Qi Ming
./.
1
04
c.520C>T
-
p.Leu174Phe
Substitution
-
GenBank
CHEK2_00070
-
c.520C>T
-
Qi Ming
./.
5
04
c.538C>T
-
p.Arg180Cys
Substitution
-
GenBank
CHEK2_00029
A=0.005/2
c.538C>T R180C, -
-
Qi Ming
./.
2
04
c.539G>A
-
p.Arg180His
Substitution
-
GenBank
CHEK2_00003
-
-
-
Qi Ming
./.
3
04
c.541C>T
-
p.Arg181Cys
Substitution
-
GenBank
CHEK2_00030
-
c.541C>T R181C, -, c.541C>T
-
Qi Ming
./.
1
04
c.542G>A
-
p.Arg181His
Substitution
-
GenBank
CHEK2_00031
-
-
-
Qi Ming
./.
1
04
c.556A>C
-
p.Asn186His
Substitution
-
GenBank
CHEK2_00093
NA
-
-
Qi Ming
./.
1
05
c.662T>C
-
p.Ile221Thr
Substitution
-
GenBank
CHEK2_00092
NA
-
-
Qi Ming
./.
3
06
c.715G>A
-
p.Glu239Lys
Substitution
-
GenBank
CHEK2_00033
-
G715A, Glu239Lys, -, c.715G>A
-
Qi Ming
./.
1
06
c.715G>T
-
p.Glu239X
Substitution
-
GenBank
CHEK2_00032
-
-
-
Qi Ming
./.
1
06
c.727T>C
-
p.Cys243Arg
Substitution
-
GenBank
CHEK2_00091
NA
-
-
Qi Ming
./.
2
06
c.751A>T
-
p.Ile251Phe
Substitution
-
GenBank
CHEK2_00034
-
A751T, Ile251Phe, -
-
Qi Ming
./.
1
09
c.952C>T
-
p.Arg318Cys
Substitution
-
GenBank
CHEK2_00090
NA
-
-
Qi Ming
./.
2
09
c.953G>A
-
p.Arg318His
Substitution
-
GenBank
CHEK2_00035
NA
-, G954A
-
Qi Ming
./.
1
09
c.961G>A
-
p.Glu321Lys
Substitution
-
GenBank
CHEK2_00044
-
c.961G>A
-
Qi Ming
./.
2
09
c.967A>C
-
p.Thr323Pro
Substitution
-
GenBank
CHEK2_00036
-
-, c.967A>C
-
Qi Ming
./.
1
09
c.980A>G
-
p.Tyr327Cys
Substitution
-
GenBank
CHEK2_00037
-
-
-
Qi Ming
./.
1
10
c.1009-200T>A
-
-
Substitution
-
GenBank
CHEK2_00103
-
CHEK2 intron9 -200G>A
-
Qi Ming
./.
1
10
c.1027A>G
-
p.Ile343Val
Substitution
-
GenBank
CHEK2_00089
NA
-
-
Qi Ming
./.
1
10
c.1039G>A
-
p.Asp347Asn
Substitution
-
GenBank
CHEK2_00088
NA
-
-
Qi Ming
./.
1
10
c.1091T>C
-
p.Ile364Thr
Substitution
-
GenBank
CHEK2_00053
-
-
-
Qi Ming
./.
1
11
c.1100 delC
-
p.Thr367MetfsX15
Deletion
-
GenBank
CHEK2_00045
-
c.1100 delC
-
Qi Ming
./.
14
11
c.1100del
-
p.Thr367MetfsX15
Deletion
-
GenBank
CHEK2_00040
-
CHEK2*1100delC SNP, -, 1100delC, 1100delC allele, frameshift 1100delC mutation in exon 10, del1100C,
1 more item
-
Qi Ming
./.
48
11
c.1100delC
-
p.Thr367MetfsX15
Deletion
-
GenBank
CHEK2_00001, CHEK2_00017, CHEK2_00022
1.4%, 1.5%, 0.11%, 2.6%, 1.2%, 1.34%, 2.5%, 2.1%, 4.2%
-, CHEK2 1100delC, c.1100delC, A protein-truncating mutation, 1100delC in exon 10, 1100delC,
11 more items
-
Qi Ming
./.
1
11
c.1111C>T
-
p.His371Tyr
Substitution
-
GenBank
CHEK2_00042
-
1111C>T(His371Tyr)
-
Qi Ming
./.
1
11
c.1115C>T
-
p.Ser372Phe
Substitution
-
GenBank
CHEK2_00087
NA
-
-
Qi Ming
./.
1
11
c.1117A>G
-
p.Lys373Glu
Substitution
-
GenBank
CHEK2_00086
NA
-
-
Qi Ming
./.
1
11
c.1139_1140del
-
p.Leu380HisfsX14
Deletion
-
GenBank
CHEK2_00104
-
c.1140-1141DelTC , on CHEK2 exon 10 (p.L380FsX393)
-
Qi Ming
./.
1
11
c.1154G>A
-
p.Cys385Tyr
Substitution
-
GenBank
CHEK2_00085
NA
-
-
Qi Ming
./.
1
11
c.1217G>A
-
p.Arg406His
Substitution
-
GenBank
CHEK2_00061
-
novel missense variant, 1217G>A (R406H)
-
Qi Ming
./.
3
12, 11
c.1270T>C
-
p.Tyr424His
Substitution
-
GenBank
CHEK2_00057
NA
-, Y424H
-
Qi Ming
./.
3
12
c.1283C>T
-
p.Ser428Phe
Substitution
-
GenBank
CHEK2_00046
-
CHEK2.S428F, S428F
-
Qi Ming
./.
1
12
c.1306C>A
-
p.Leu436Met
Substitution
-
GenBank
CHEK2_00084
NA
-
-
Qi Ming
./.
3
12
c.1312G>T
-
p.Asp438Tyr
Substitution
-
GenBank
CHEK2_00058
-
1312G>T D438Y, D438Y
-
Qi Ming
./.
1
12
c.1338C>A
-
p.Asn446Lys
Substitution
-
GenBank
CHEK2_00083
NA
-
-
Qi Ming
./.
1
12
c.1339T>A
-
p.Phe447Ile
Substitution
-
GenBank
CHEK2_00082
NA
-
-
Qi Ming
./.
1
12
c.1343T>G
-
p.Ile448Ser
Substitution
-
GenBank
CHEK2_00081
C=0.011/4
-
-
Qi Ming
./.
1
12
c.1352T>C
-
p.Val451Ala
Substitution
-
GenBank
CHEK2_00080
NA
-
-
Qi Ming
./.
1
12
c.1375+78C>G
-
-
Substitution
-
GenBank
CHEK2_00010
-
1375+78C
-
Qi Ming
./.
2
13
c.1425del
-
p.Phe475LeufsX7
Deletion
-
GenBank
CHEK2_00105, CHEK2_00016
-
(c.1422DelT, R475Fs), -
-
Qi Ming
./.
2
13
c.1427C>A
-
p.Thr476Lys
Substitution
-
GenBank
CHEK2_00038
-
C1427A, c.1427C>A
-
Qi Ming
./.
1
13
c.1427C>T
-
p.Thr476Met
Substitution
-
GenBank
CHEK2_00079
NA
-
-
Qi Ming
./.
1
13
c.1461+1887A>G
-
-
Substitution
-
GenBank
CHEK2_00052
-
rs5762746
-
Qi Ming
./.
1
14
c.1462-211A>G
-
-
Substitution
-
GenBank
CHEK2_00011
-
1462-211 A-G
-
Qi Ming
./.
1
14
c.1462-198C>T
-
-
Substitution
-
GenBank
CHEK2_00012
-
1462-198 C
-
Qi Ming
./.
1
14
c.1462-25A>G
-
-
Substitution
-
GenBank
CHEK2_00013
-
1462-25 A-G
-
Qi Ming
./.
1
14
c.1489G>A
-
p.Asp497Asn
Substitution
-
GenBank
CHEK2_00078
NA
-
-
Qi Ming
./.
1
14
c.1501G>A
-
p.Glu501Lys
Substitution
-
GenBank
CHEK2_00077
NA
-
-
Qi Ming
./.
2
14
c.1525C>T
-
p.Pro509Ser
Substitution
-
GenBank
CHEK2_00059
-
P509S, P509S
-
Qi Ming
./.
2
14
c.1526C>T
-
p.Pro509Leu
Substitution
-
GenBank
CHEK2_00060
-
P509L
-
Qi Ming
./.
1
14
c.1534C>G
-
p.Leu512Val
Substitution
-
GenBank
CHEK2_00076
NA
-
-
Qi Ming
./.
1
15
c.1567C>T
-
p.Arg523Cys
Substitution
-
GenBank
CHEK2_00075
NA
-
-
Qi Ming
./.
1
15
c.1582G>A
-
p.Glu528Lys
Substitution
-
GenBank
CHEK2_00074
NA
-
-
Qi Ming
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Leiden University Medical Center