Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BRCA2 (BRCA2, DNA repair associated)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Qi Ming
View all genes
View BRCA2 gene homepage
View graphs about the BRCA2 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene BRCA2
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene BRCA2
View all variants in gene BRCA2
Full data view for gene BRCA2
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene BRCA2
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene BRCA2
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene BRCA2
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Unique variants in the BRCA2 gene
The variants shown are described using the NM_000059.3 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
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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.
62 entries on 1 page. Showing entries 1 - 62.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
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
./.
3
02
c.-39-26G>A
-
-
SNP
-
GenBank
BRCA2_00024
0.17, 0.19, 0.18
Substitution
-
Qi Ming
./.
2
17
C.7806-9T>G
-
-
-
-
GenBank
BRCA2_00030
-
Substitution
-
Qi Ming
./.
1
03
c.78A>G
-
p.Pro26Pro
SNP
-
GenBank
BRCA2_00020
-
Substitution
-
Qi Ming
./.
3
05
c.425-79T>C
-
-
SNP
-
GenBank
BRCA2_00026
0.06, 0.09, 0.07
Substitution
-
Qi Ming
./.
3
04
c.425+67A>C
-
-
SNP
-
GenBank
BRCA2_00025
0.06, 0.09, 0.07
Substitution
-
Qi Ming
./.
1
05
c.440A>G
-
p.Glu147Arg
-
-
GenBank
BRCA2_00030
-
Substitution
-
Qi Ming
./.
1
05
c.464_468del5
-
p.Arg155LysfsX26
-
-
GenBank
BRCA2_00031
-
Deletion
-
Qi Ming
./.
1
05
c.470_474del5
-
p.Lys157SerfsX24
-
-
GenBank
BRCA2_00032
-
Deletion
-
Qi Ming
./.
1
08
c.681+56C>T
-
-
SNP, Allele frequency in Chinese population is less then 0.002
-
GenBank
BRCA2_00016
0.002
Substitution
-
Qi Ming
./.
2
10
c.865A>C
-
p.Asn289His, p.Asn991Asp
SNP
-
GenBank
BRCA2_00004
-
Substitution
-
Qi Ming
./.
1
10
c.1080delA
-
p.Pro360ProfsX7
-
-
GenBank
BRCA2_00033
-
Deletion
-
Qi Ming
./.
5
10
c.1114A>C
-
p.Asn372His
SNP
-
GenBank
BRCA2_00005
0.07, 0.21, 0.4
Substitution
-
Qi Ming
./.
1
10
c.1261C>T
-
p.Gln421X
-
-
GenBank
BRCA2_00052
-
Substitution
-
Qi Ming
./.
1
10
c.1303dupA
-
p.Arg435LysfsX17
-
-
GenBank
BRCA2_00034
-
Insertion
-
Qi Ming
./.
5
10
c.1365A>G
-
p.Ser455Ser
-, SNP
-
GenBank
BRCA2_00008
0.05, 0.07
Substitution
-
Qi Ming
./.
1
10
c.1773_1776delTTAT
-
p.Ile591MetfsX22
-
-
GenBank
BRCA2_00049
-
Deletion
-
Qi Ming
./.
1
10
c.1813delA
-
p.Ile605TyrfsX9
-
-
GenBank
BRCA2_00035
-
Deletion
-
Qi Ming
./.
1
10
c.1881delA
-
p.Ala672AlafsX16
-
-
GenBank
BRCA2_00036
-
Deletion
-
Qi Ming
./.
1
10
c.1901delC
-
p.Ala634ValfsX10
-
-
GenBank
BRCA2_00037
-
Deletion
-
Qi Ming
./.
3
11
c.1910-51G>T
-
-
SNP
-
GenBank
BRCA2_00027
0.01, 0.007
Substitution
-
Qi Ming
./.
5
11
c.2229T>C
-
p.His743His
-, SNP
-
GenBank
BRCA2_00009
0.08, 0.11, 0.09
Substitution
-
Qi Ming
./.
2
11
c.2442delC
-
p.Pro814ProfsX10
-
-
GenBank
BRCA2_00001
-
Deletion
-
Qi Ming
./.
1
11
c.2588_2589insA
-
p.Asn863LysfsX18
-
-
GenBank
BRCA2_00038
-
Insertion
-
Qi Ming
./.
5
11
c.2731A>G
-
p.Asn991Asp
SNP
-
GenBank
BRCA2_00006
0.01, 0.03
Substitution
-
Qi Ming
./.
1
11
c.2806_2809delAAAC
-
p.Lys936LysfsX23
-
-
GenBank
BRCA2_00039
-
Deletion
-
Qi Ming
./.
1
11
c.2845delT
-
p.Tyr949MetfsX11
-
-
GenBank
BRCA2_00002
-
Deletion
-
Qi Ming
./.
3
11
c.3109C>T
-
p.Gln1037X
-
-
GenBank
BRCA2_00013
-
Substitution
-
Qi Ming
./.
1
11
c.3195_3198delTAAT
-
p.Ile1065IlefsX11
-
-
GenBank
BRCA2_00040
-
Deletion
-
Qi Ming
./.
4
11
c.3396A>G
-
p.Lys1132Lys
-, SNP
-
GenBank
BRCA2_00010
0.03, 0.07, 0.04
Substitution
-
Qi Ming
./.
1
11
c.3406A>G
-
p.Lys1132Lys
SNP
-
GenBank
BRCA2_00021
-
Substitution
-
Qi Ming
./.
1
11
c.3744_3747delTGAG
-
p.Ser1248ArgfsX10
-
-
GenBank
BRCA2_00041
-
Deletion
-
Qi Ming
./.
5
11
c.3807T>C
-, r.(=)
p.Val1269Val, p.(=)
-, SNP, Substitution
-, g.32912299T>C
GenBank
BRCA2_00011, BRCA2_000011
0.12, 0.13
Substitution
-
Qi Ming
./.
1
11
c.3871C>T
-
p.Gln1291X
-
-
GenBank
BRCA2_00051
-
Substitution
-
Qi Ming
./.
1
11
c.4563_4564delGT
-
p.Leu1522GlyfsX6
-
-
GenBank
BRCA2_00053
-
Deletion
-
Qi Ming
./.
1
11
c.5164_5165delAG
-
p.Ser1722TyrfsX4
-
-
GenBank
BRCA2_00054
-
Deletion
-
Qi Ming
./.
4
11
c.5574_5577delAATT
-
p.Thr1858ThrfsX4
-
-
GenBank
BRCA2_00029
-
Deletion
-
Qi Ming
./.
1
11
c.5645C>A
-
p.Ser1882X
-
-
GenBank
BRCA2_00050
-
Substitution
-
Qi Ming
./.
1
11
c.5681dupA
-
p.Tyr1894X
-
-
GenBank
BRCA2_00042
-
Duplication
-
Qi Ming
./.
2
11
c.5683G>C
-
p.Glu1895Gln
-
-
GenBank
BRCA2_00022
0.007
Substitution
-
Qi Ming
./.
3
11
c.5722_5723delCT
-
p.Leu1908ArgfsX2
-
-
GenBank
BRCA2_00023
-
Deletion
-
Qi Ming
./.
1
11
c.5851_5854delAGTT
-
p.Ser1951TrpfsX11
-
-
GenBank
BRCA2_00055
-
Deletion
-
Qi Ming
./.
1
11
c.5946delT
-
p.Ser1982ArgfsX22
-
-
GenBank
BRCA2_00014
-
Deletion
-
Qi Ming
./.
1
11
c.6033_6034delTT
-
p.Phe2011PhefsX6
-
-
GenBank
BRCA2_00043
-
Deletion
-
Qi Ming
./.
1
11
c.6468_6469delTC
-
p.Ser2156SerfsX19
-
-
GenBank
BRCA2_00003
-
Deletion
-
Qi Ming
./.
1
14
c.7242A>G
-
p.Ser2414Ser
-
-
GenBank
BRCA2_00012
-
Substitution
-
Qi Ming
./.
3
14
c.7435+53C>T
-
-
SNP
-
GenBank
BRCA2_00028
0.05, 0.09, 0.06
Substitution
-
Qi Ming
./.
1
15
c.7467_7468insT
-
p.Ile2490TyrfsX7
-
-
GenBank
BRCA2_00062
-
Insertion
-
Qi Ming
./.
1
15
c.7471C>T
-
p.Gln2491X
-
-
GenBank
BRCA2_00057
-
Substitution
-
Qi Ming
./.
1
16
c.7655_7658delTTAA
-
p.Ile2552ThrfsX95
-
-
GenBank
BRCA2_00015
-
Deletion
-
Qi Ming
./.
1
17
c.7806-15C>T
-
-
SNP
-
GenBank
BRCA2_00030
-
Substitution
-
Qi Ming
./.
4
17
c.7806-14T>C
-
-
SNP, Allele frequency in Chinese population is less than 0.002, SNP
-
GenBank
BRCA2_00017
0.002, 0.38, 0.4, 0.39
Substitution
-
Qi Ming
./.
1
17
c.7976+1G>A
-
-
-
-
GenBank
BRCA2_00044
-
Substitution
-
Qi Ming
./.
1
18
c.8047_8054dupGCAAAAAC
-
p.Leu2686GlufsX10
-
-
GenBank
BRCA2_00058
-
Duplication
-
Qi Ming
./.
1
18
c.8066_8067delGT
-
p.Val2690PhefsX2
-
-
GenBank
BRCA2_00059
-
Deletion
-
Qi Ming
./.
1
18
c.8187G>T
-
p.Lys2729Asn
SNP, Allele frequency in Chinese population is less than 0.002
-
GenBank
BRCA2_00018
0.002
Substitution
-
Qi Ming
./.
1
18
c.8234dupT
-
p.Leu2745LeufsX19
-
-
GenBank
BRCA2_00045
-
Duplication
-
Qi Ming
./.
1
21
c.8599A>T
-
p.Lye2882X
-
-
GenBank
BRCA2_00046
-
Substitution
-
Qi Ming
./.
1
21
c.8633_8754del122
-
p.Glu2878GlyfsX5
-
-
GenBank
BRCA2_00060
-
Deletion
-
Qi Ming
./.
2
22
c.8820_8823delACAA
-
p.Lys2940LysfsX35
-
-
GenBank
BRCA2_00061
-
Deletion
-
Qi Ming
./.
2
22
c.8950delT
-
p.Ser2984GlnfsX4
-
-
GenBank
BRCA2_00048
-
Deletion
-
Qi Ming
./.
1
27
c.9649-19G>A
-
-
SNP, Allele frequency in Chinese population is less than 0.002
-
GenBank
BRCA2_00019
0.002
Substitution
-
Qi Ming
./.
2
27
c.10234A>G
-
p.Ile3412Val
SNP, SNP, Allele frequency in Chinese population is less than 0.002
-
GenBank
BRCA2_00007
0.002
Substitution
-
Qi Ming
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center