Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BARD1 (BRCA1 associated RING domain 1)
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Unique variants in the BARD1 gene
The variants shown are described using the NM_000465.2 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.
94 entries on 1 page. Showing entries 1 - 94.
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Legend
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
04
c.1134G>?
-
p.Arg378Ser
peripheral blood leucocytes
-
GenBank
BARD1_00037
-
Substitution
-
Qi Ming
./.
1
04
c.609A>?
-
p.Gly203Gly
blood lymphocytes
-
GenBank
BARD1_00060
-
Substitution
-
Qi Ming
./.
1
04
c.?
-
-
blood
-
GenBank
BARD1_00021
-
Deletion
-
Qi Ming
./.
1
01
c.33G>T
-
p.Gln11His
unknown
-
GenBank
BARD1_00101
NA
Substitution
-
Qi Ming
./.
6
01
c.70C>T
-
p.Pro24Ser
tumor or blood, venous blood, blood lymphocytes, peripheral blood leucocytes, blood and tissue,
1 more item
-
GenBank
BARD1_00001
39.3%, 49.5%, A=0.327/411
Substitution
-
Qi Ming
./.
1
01
c.70_71delCCinsAG
-
p.Pro24Ser
tumour tissue
-
GenBank
BARD1_00112
-
Insertion/Deletion
-
Qi Ming
./.
1
01
c.119C>T
-
p.Ala40Val
unknown
-
GenBank
BARD1_00100
NA
Substitution
-
Qi Ming
./.
1
01
c.158+46A>C
-
-
peripheral blood leucocytes
-
GenBank
BARD1_00043
-
Substitution
-
Qi Ming
./.
1
02
c.159-70T>G
-
-
peripheral blood leucocytes
-
GenBank
BARD1_00044
-
Substitution
-
Qi Ming
./.
1
02
c.215+59A>G
-
-
blood and tissue
-
GenBank
BARD1_00054
0.92%
Substitution
-
Qi Ming
./.
1
02
c.215+61_215+62delGT
-
-
blood and tissue
-
GenBank
BARD1_00055
-
Deletion
-
Qi Ming
./.
1
02
c.215+68delT
-
-
blood and tissue
-
GenBank
BARD1_00056
7.4%
Deletion
-
Qi Ming
./.
1
03
c.253G>T
-
p.Val85Leu
peripheral blood leucocytes
-
GenBank
BARD1_00039
-
Substitution
-
Qi Ming
./.
1
03
c.304G>A
-
p.Asp102Asn
unknown
-
GenBank
BARD1_00099
NA
Substitution
-
Qi Ming
./.
1
03
c.308G>A
-
p.Ser103Asn
unknown
-
GenBank
BARD1_00098
NA
Substitution
-
Qi Ming
./.
1
03
c.346C>T
-
p.His116Tyr
unknown
-
GenBank
BARD1_00097
NA
Substitution
-
Qi Ming
./.
1
03
c.353A>G
-
p.Asn118Ser
unknown
-
GenBank
BARD1_00096
NA
Substitution
-
Qi Ming
./.
1
04
c.365-7C>T
-
-
peripheral blood leucocytes
-
GenBank
BARD1_00045
-
Substitution
-
Qi Ming
./.
1
04
c.457A>G
-
p.Lys153Glu
tumor or blood
-
GenBank
BARD1_00002
-
Substitution
-
Qi Ming
./.
1
04
c.546dup
-
p.Val183CysfsX11
unknown
-
GenBank
BARD1_00108
NA
Duplication
-
Qi Ming
./.
1
04
c.556A>G
-
p.Ser186Gly
unknown
-
GenBank
BARD1_00095
NA
Substitution
-
Qi Ming
./.
3
04
c.609A>C
-
p.Gly203Gly
blood lymphocytes, peripheral blood leucocytes , blood and tissue
-
GenBank
BARD1_00017
1.9%
Substitution
-
Qi Ming
./.
1
04
c.620A>G
-
p.Lys207Arg
unknown
-
GenBank
BARD1_00094
NA
Substitution
-
Qi Ming
./.
1
04
c.659T>C
-
p.Leu220Ser
unknown
-
GenBank
BARD1_00093
NA
Substitution
-
Qi Ming
./.
1
04
c.665C>T
-
p.Ala222Val
unknown
-
GenBank
BARD1_00092
NA
Substitution
-
Qi Ming
./.
1
04
c.668A>G
-
p.Glu223Gly
unknown
-
GenBank
BARD1_00091
NA
Substitution
-
Qi Ming
./.
1
04
c.672dup
-
p.Glu225ArgfsX4
unknown
-
GenBank
BARD1_00109
NA
Duplication
-
Qi Ming
./.
2
04
c.722C>G
-
p.Ser241Cys
mononuclear cells from peripheral blood samples, unknown
-
GenBank
BARD1_00011
C=0.031/12
Substitution
-
Qi Ming
./.
1
04
c.737C>A
-
p.Pro246Gln
unknown
-
GenBank
BARD1_00090
NA
Substitution
-
Qi Ming
./.
1
04
c.764A>G
-
p.Asn255Ser
unknown
-
GenBank
BARD1_00089
NA
Substitution
-
Qi Ming
./.
1
04
c.773T>C
-
p.Ile258Thr
unknown
-
GenBank
BARD1_00088
NA
Substitution
-
Qi Ming
./.
1
04
c.896C>T
-
p.Thr299Ile
unknown
-
GenBank
BARD1_00087
NA
Substitution
-
Qi Ming
./.
1
04
c.936A>G
-
p.Lys312Lys
tumour tissue
-
GenBank
BARD1_00113
-
Substitution
-
Qi Ming
./.
1
04
c.944C>T
-
p.Pro315Leu
unknown
-
GenBank
BARD1_00086
NA
Substitution
-
Qi Ming
./.
1
04
c.953delA
-
p.Asn318IlefsX24
unknown
-
GenBank
BARD1_00105
NA
Deletion
-
Qi Ming
./.
6
04
c.1053G>C
-
p.Thr351Thr
tumor or blood, blood lymphocytes, blood, tumour tissue, peripheral blood leucocytes ,
1 more item
-
GenBank
BARD1_00003
38.5%
Substitution
-
Qi Ming
./.
3
04
c.1072_1092del
-
p.Leu359_Pro365del
tumor or blood, mononuclear cells from peripheral blood samples, blood lymphocytes
-
GenBank
BARD1_00004
-
Deletion
-
Qi Ming
./.
2
04
c.1075_1095del
-
p.Leu359_Pro365del
peripheral blood leucocytes, unknown
-
GenBank
BARD1_00036
NA
Deletion
-
Qi Ming
./.
1
04
c.1076T>C
-
p.Leu359Ser
unknown
-
GenBank
BARD1_00085
NA
Substitution
-
Qi Ming
./.
1
04
c.1084T>G
-
p.Cys362Gly
unknown
-
GenBank
BARD1_00084
NA
Substitution
-
Qi Ming
./.
1
04
c.1097del
-
Pro366LeufsX34
unknown
-
GenBank
BARD1_00110
NA
Deletion
-
Qi Ming
./.
2
04
c.1133G>C
-
p.Arg378Thr
blood, tumour tissue
-
GenBank
BARD1_00019
-
Substitution
-
Qi Ming
./.
4
04
c.1134G>C
-
p.Arg378Ser
mononuclear cells from peripheral blood samples, venous blood, blood and tissue, unknown
-
GenBank
BARD1_00012
76.1%, G=0.485/610
Substitution
-
Qi Ming
./.
1
04
c.1169T>A
-
p.Leu390His
unknown
-
GenBank
BARD1_00083
NA
Substitution
-
Qi Ming
./.
1
04
c.1203T>C
-
p.Ser401Ser
peripheral blood leucocytes
-
GenBank
BARD1_00040
-
Substitution
-
Qi Ming
./.
1
04
c.1265T>G
-
p.Val422Gly
unknown
-
GenBank
BARD1_00082
NA
Substitution
-
Qi Ming
./.
1
04
c.1314+29C>G
-
-
peripheral blood leucocytes
-
GenBank
BARD1_00046
-
Substitution
-
Qi Ming
./.
2
05
c.1315-19G>A
-
-
peripheral blood leucocytes , blood and tissue
-
GenBank
BARD1_00114
55%
Substitution
-
Qi Ming
./.
1
05
c.1315-2A>G
-
-
blood and tissue
-
GenBank
BARD1_00057
-
Substitution
-
Qi Ming
./.
1
05
c.1372G>C
-
p.Asp458His
unknown
-
GenBank
BARD1_00081
NA
Substitution
-
Qi Ming
./.
1
05
c.1395+50T>C
-
-
peripheral blood leucocytes
-
GenBank
BARD1_00048
-
Substitution
-
Qi Ming
./.
2
06
c.1409A>G
-
p.Asn470Ser
mononuclear cells from peripheral blood samples, peripheral blood leucocytes
-
GenBank
BARD1_00014
-
Substitution
-
Qi Ming
./.
1
06
c.1430T>C
-
p.Val477Ala
unknown
-
GenBank
BARD1_00080
NA
Substitution
-
Qi Ming
./.
1
06
c.1439T>C
-
p.Leu480Ser
unknown
-
GenBank
BARD1_00079
NA
Substitution
-
Qi Ming
./.
1
06
c.1516_1517dup
-
p.Val507MetfsX4
unknown
-
GenBank
BARD1_00111
NA
Duplication
-
Qi Ming
./.
7
06
c.1518T>C
-
p.His506His
mononuclear cells from peripheral blood samples, blood lymphocytes, tumour tissue, blood and tissue,
2 more items
-
GenBank
BARD1_00013, BARD1_00024
70.6%
Substitution
-
Qi Ming
./.
11
06
c.1519G>A
-
p.Val507Met
tumor or blood, mononuclear cells from peripheral blood samples, blood lymphocytes, venous blood,
6 more items
-
GenBank
BARD1_00005, BARD1_00023
53.2%, T=0.341/411
Substitution
-
Qi Ming
./.
1
06
c.1520_1521delGT
-
p.Val507GlyfsX17
unknown
-
GenBank
BARD1_00078
G=0.030/27
Deletion
-
Qi Ming
./.
1
06
c.1526T>C
-
p.Ile509Thr
peripheral blood leucocytes
-
GenBank
BARD1_00041
-
Substitution
-
Qi Ming
./.
2
06
c.1568+14C>T
-
-
peripheral blood leucocytes, blood and tissue
-
GenBank
BARD1_00115
45.8%
Substitution
-
Qi Ming
./.
2
06
c.1568+42T>C
-
-
peripheral blood leucocytes , blood and tissue
-
GenBank
BARD1_00050
1.9%
Substitution
-
Qi Ming
./.
1
06
c.1568+51A>G
-
-
peripheral blood leucocytes
-
GenBank
BARD1_00051
-
Substitution
-
Qi Ming
./.
3
07
c.1669T>A
-
p.Cys557Ser
tumor or blood, blood lymphocytes, tumour tissue
-
GenBank
BARD1_00006
-
Substitution
-
Qi Ming
./.
9
07
c.1670G>C
-
p.Cys557Ser
blood, peripheral blood leukocytes , blood or lymphoblastoid cell, blood lymphocytes, blood and tissue,
3 more items
-
GenBank
BARD1_00015
5.2%, 4.7%, 4.4%, 4.1%, 1.9%
Substitution
-
Qi Ming
./.
1
07
c.1672T>C
-
p.Ser558Pro
blood
-
GenBank
BARD1_00016
-
Substitution
-
Qi Ming
./.
1
08
c.1690C>T
-
p.Gln564fsX
blood and tissue
-
GenBank
BARD1_00058
0.92
Substitution
-
Qi Ming
./.
1
08
c.1692G>C
-
p.Gln564His
tumor or blood
-
GenBank
BARD1_00008
-
Substitution
-
Qi Ming
./.
2
08
c.1694G>A
-
P.Arg565His
blood lymphocytes, unknown
-
GenBank
BARD1_00062
NA
Substitution
-
Qi Ming
./.
1
08
c.1738G>A
-
p.Glu580Lys
unknown
-
GenBank
BARD1_00075
T=0.034/12
Substitution
-
Qi Ming
./.
1
08
c.1781C>A
-
p.Ala594Asp
unknown
-
GenBank
BARD1_00074
NA
Substitution
-
Qi Ming
./.
1
08
c.1793C>T
-
p.Thr598Ile
blood lymphocytes
-
GenBank
BARD1_00063
-
Substitution
-
Qi Ming
./.
1
09
c.1838C>A
-
p.Ala613Glu
unknown
-
GenBank
BARD1_00073
NA
Substitution
-
Qi Ming
./.
1
09
c.1882T>C
-
p.Cys628Arg
unknown
-
GenBank
BARD1_00072
NA
Substitution
-
Qi Ming
./.
1
10
c.1904-51T>G
-
-
peripheral blood leucocytes
-
GenBank
BARD1_00052
-
Substitution
-
Qi Ming
./.
3
10
c.1933T>C
-
p.Cys645Arg
tumour tissue, peripheral blood leucocytes, unknown
-
GenBank
BARD1_00026
G=0.030/27
Substitution
-
Qi Ming
./.
1
10
c.1935_1954dup
-
p.Glu652ValfsX69
peripheral blood leucocytes
-
GenBank
BARD1_00042
-
Duplication
-
Qi Ming
./.
1
10
c.1957A>C
-
p.Ile653Leu
unknown
-
GenBank
BARD1_00076
NA
Substitution
-
Qi Ming
./.
6
10
c.1972C>T
-
p.Arg658Cys
tumor or blood, blood lymphocytes, blood, peripheral blood leucocytes, unknown
-
GenBank
BARD1_00007
-
Substitution
-
Qi Ming
./.
1
10
c.1977A>G
-
p.Arg659Arg
blood and tissue
-
GenBank
BARD1_00059
0.92%
Substitution
-
Qi Ming
./.
1
10
c.2001+66A>C
-
-
peripheral blood leucocytes
-
GenBank
BARD1_00053
-
Substitution
-
Qi Ming
./.
2
11
c.2083G>C
-
p.Val695Leu
tumor or blood, unknown
-
GenBank
BARD1_00010
NA
Substitution
-
Qi Ming
./.
1
11
c.2084T>A
-
p.Val695Asp
unknown
-
GenBank
BARD1_00070
NA
Substitution
-
Qi Ming
./.
1
11
c.2116A>G
-
p.Lys706Glu
unknown
-
GenBank
BARD1_00069
NA
Substitution
-
Qi Ming
./.
1
11
c.2129A>T
-
p.Asp710Val
unknown
-
GenBank
BARD1_00068
NA
Substitution
-
Qi Ming
./.
1
11
c.2148C>C
-
p.Thr716Thr
blood lymphocytes
-
GenBank
BARD1_00034
-
Substitution
-
Qi Ming
./.
1
11
c.2161G>A
-
p.Ala721Thr
unknown
-
GenBank
BARD1_00067
NA
Substitution
-
Qi Ming
./.
1
11
c.2183C>T
-
p.Ser728Phe
unknown
-
GenBank
BARD1_00066
NA
Substitution
-
Qi Ming
./.
1
11
c.2191C>G
-
p.Arg731Gly
unknown
-
GenBank
BARD1_00065
C=0.011/4
Substitution
-
Qi Ming
./.
5
11
c.2212A>G
-
p.Ile738Val, p..Ile738Val
tumour tissue, blood lymphocytes, peripheral blood leucocytes, blood and tissue, unknown
-
GenBank
BARD1_00022
0.92%, NA
Substitution
-
Qi Ming
./.
1
11
c.2242G>A
-
p.Glu748Lys
peripheral blood leucocytes
-
GenBank
BARD1_00038
-
Substitution
-
Qi Ming
./.
1
11
c.2248G>A
-
p.Val750Ile
unknown
-
GenBank
BARD1_00071
NA
Substitution
-
Qi Ming
./.
1
11
c.2250del
-
p.Arg751GlyfsX14
unknown
-
GenBank
BARD1_00077
NA
Deletion
-
Qi Ming
./.
1
11
c.2251C>T
-
p.Arg751Trp
unknown
-
GenBank
BARD1_00064
NA
Substitution
-
Qi Ming
./.
5
11
c.2282G>A
-
p.Ser761Asn
tumor or blood, tumour tissue, blood lymphocytes , peripheral blood leucocytes, unknown
-
GenBank
BARD1_00009
NA
Substitution
-
Qi Ming
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