Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
PALB2 (partner and localizer of BRCA2)
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Unique variants in the PALB2 gene
The variants shown are described using the NM_024675.3 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.
144 entries on 2 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
1
01
c.-145G>C
-
-
Exon
-
GenBank
PALB2_00104
-
blood
-
Qi Ming
./.
2
01
c.-47G>A
-
-
Exon
-
GenBank
PALB2_00050
-
blood
-
Qi Ming
./.
4
03, 09, 04
c.?
-
p.Gly49X, p.Leu74Leu, p.Ile247Ile, p.Asn289His
Exon
-
GenBank
PALB2_00100
-
blood
-
Qi Ming
./.
1
01
c.11C>T
-
p.Pro4Leu
Exon
-
GenBank
PALB2_00176
NA
unknown
-
Qi Ming
./.
1
02
c.49-104C>T
-
-
Intron
-
GenBank
PALB2_00109
-
blood
-
Qi Ming
./.
1
02
c.53A>G
-
p.Lys18Arg
Exon
-
GenBank
PALB2_00068
-
unknown
-
Qi Ming
./.
1
02
c.72G>A
-
p.Leu24Leu
Exon
-
GenBank
PALB2_00056
-
breast pancreas,intestine and colorectum
-
Qi Ming
./.
1
02
c.94C>G
-
p.Leu32Val
Exon
-
GenBank
PALB2_00175
NA
unknown
-
Qi Ming
./.
1
02
c.101G>T
-
p.Arg34Leu
Exon
-
GenBank
PALB2_00173
NA
unknown
-
Qi Ming
./.
1
02
c.104T>C
-
p.Leu35Pro
Exon
-
GenBank
PALB2_00174
NA
unknown
-
Qi Ming
./.
1
03
c.172_175delTTGT
-
p.Gln60ArgfsX7
Exon
-
GenBank
PALB2_00012
-
Blood
-
Qi Ming
./.
1
03
c.194C>T
-
p.Pro65Leu
Exon
-
GenBank
PALB2_00101
-
blood
-
Qi Ming
./.
3
04
c.212-58A>C
-
-
Intron
-
GenBank
PALB2_00027
-
Blood
-
Qi Ming
./.
1
04
c.212-49T>C
-
-
Intron
-
GenBank
PALB2_00079
-
blood
-
Qi Ming
./.
1
04
c.212-46dupT
-
-
Intron
-
GenBank
PALB2_00081
-
blood
-
Qi Ming
./.
1
04
c.226A>G
-
p.Ile76Val
Exon
-
GenBank
PALB2_00108
-
blood
-
Qi Ming
./.
1
03
c. 229delT
-
p.Cys77ValfsX100
Exon
-
GenBank
PALB2_00017
-
blood
-
Qi Ming
./.
1
04
c.229delT
-
p.Cys77ValfsX100
Exon
-
GenBank
PALB2_00099
-
blood
-
Qi Ming
./.
1
04
c.280G>A
-
p.Glu94Lys
Exon
-
GenBank
PALB2_00172
NA
unknown
-
Qi Ming
./.
1
04
c.298C>T
-
p.Leu100Phe
Exon
-
GenBank
PALB2_00171
NA
unknown
-
Qi Ming
./.
2
04
c.344G>T
-
p.Gly115Val
Exon
-
GenBank
PALB2_00024
NA
Lymphocyte, unknown
-
Qi Ming
./.
1
04
c.371C>T
-
p.Thr124Ile
Exon
-
GenBank
PALB2_00170
NA
unknown
-
Qi Ming
./.
1
04
c.400G>A
-
p.Asp134Asn
Exon
-
GenBank
PALB2_00169
NA
unknown
-
Qi Ming
./.
1
04
c.406A>T
-
p.Ser136Cys
Exon
-
GenBank
PALB2_00168
NA
unknown
-
Qi Ming
./.
1
04
c.408T>A
-
p.Ser136Arg
Exon
-
GenBank
PALB2_00167
NA
unknown
-
Qi Ming
./.
1
04
c.509_510del
-
p.Arg170IlefsX14
Exon
-
GenBank
PALB2_00177
-
blood
-
Qi Ming
./.
2
04
c.509_510delGA
-
p.Arg170IlefsX14
Exon
-
GenBank
PALB2_00090
-
unknown, blood
-
Qi Ming
./.
1
04
c.632A > G
-
p.Glu211Gly
Exon
-
GenBank
PALB2_00018
-
Blood
-
Qi Ming
./.
1
04
c.656A>G
-
p.Asp219Gly
Exon
-
GenBank
PALB2_00041
-
blood
-
Qi Ming
./.
1
04
c.668T>C
-
p.Ile223Thr
Exon
-
GenBank
PALB2_00166
NA
unknown
-
Qi Ming
./.
1
04
c.697delG
-
p.Val233LeufsX5
Exon
-
GenBank
PALB2_00019
-
Blood
-
Qi Ming
./.
1
04
c.721A>G
-
p.Asn241Asp
Exon
-
GenBank
PALB2_00070
NA
unknown
-
Qi Ming
./.
1
04
c.751C>T
-
p.Gln251X
Exon
-
GenBank
PALB2_00031
-
peripheral blood leuko- cytes
-
Qi Ming
./.
1
04
c.757_758delCT
-
p.Leu253IlefsX3
Exon
-
GenBank
PALB2_00007
-
lymphoblastoid cells;fibroblast
-
Qi Ming
./.
1
04
c.807T>C
-
-
Exon
-
GenBank
PALB2_00091
-
unknown
-
Qi Ming
./.
1
04
c.844A>G
-
p.Arg282Gly
Exon
-
GenBank
PALB2_00165
NA
unknown
-
Qi Ming
./.
1
04
c.856C>T
-
p.Pro286Ser
Exon
-
GenBank
PALB2_00164
NA
unknown
-
Qi Ming
./.
1
04
c.897T>C
-
p.Ser299Ser
Exon
-
GenBank
PALB2_00042
-
blood
-
Qi Ming
./.
1
04
c.925A>G
-
p.Ile309Val
Exon
-
GenBank
PALB2_00020
-
Blood
-
Qi Ming
./.
1
04
c.928A>G
-
p.Ser310Gly
Exon
-
GenBank
PALB2_00163
NA
unknown
-
Qi Ming
./.
1
04
c.950C>T
-
p.Thr317Ile
Exon
-
GenBank
PALB2_00162
NA
unknown
-
Qi Ming
./.
1
04
c.1010T>C
-
p.Leu337Ser
Exon
-
GenBank
PALB2_00102
-
blood
-
Qi Ming
./.
1
04
c.1027C>T
-
p.Gln343X
Exon
-
GenBank
PALB2_00057
-
breast,pancreas,intestine and colorectum
-
Qi Ming
./.
1
04
c.1050_1051delAAinsTCT
-
p.Gln350HisfsX11
Exon
-
GenBank
PALB2_00032
-
peripheral blood leuko- cytes
-
Qi Ming
./.
1
04
c.1081A>G
-
p.Thr361Ala
Exon
-
GenBank
PALB2_00161
NA
unknown
-
Qi Ming
./.
1
04
c.1156A>G
-
p.Thr386Ala
Exon
-
GenBank
PALB2_00160
NA
unknown
-
Qi Ming
./.
1
04
c.1212T>G
-
p.Phe404Leu
Exon
-
GenBank
PALB2_00159
NA
unknown
-
Qi Ming
./.
1
04
c.1222T>A
-
p.Tyr408Asn
Exon
-
GenBank
PALB2_00066
-
breast and pancreatic
-
Qi Ming
./.
1
04
c.1240C> T
-
p.Arg414X
Exon
-
GenBank
PALB2_00088
-
blood
-
Qi Ming
./.
1
04
c.1240C>T
-
p.Arg414X
Exon
-
GenBank
PALB2_00092
-
unknown
-
Qi Ming
./.
1
04
c.1250C>A
-
p.Ser417Tyr
Exon
-
GenBank
PALB2_00158
NA
unknown
-
Qi Ming
./.
1
04
c.1273G>A
-
p.Val425Met
Exon
-
GenBank
PALB2_00033
-
peripheral blood leuko- cytes
-
Qi Ming
./.
1
04
c.1343G>A
-
p.Ser448Asn
Exon
-
GenBank
PALB2_00157
NA
unknown
-
Qi Ming
./.
1
04
c.1399G>C
-
p.Gly467Arg
Exon
-
GenBank
PALB2_00156
NA
unknown
-
Qi Ming
./.
1
04
c.1408A>G
-
p.Thr470Ala
Exon
-
GenBank
PALB2_00155
NA
unknown
-
Qi Ming
./.
1
04
c.1419A>C
-
-
Exon
-
GenBank
PALB2_00064
-
blood
-
Qi Ming
./.
2
04
c.1470C>T
-
p.Pro490Pro
Exon
-
GenBank
PALB2_00093
-
unknown, blood
-
Qi Ming
./.
1
04
c.1474G>A
-
p.Gly492Arg
Exon
-
GenBank
PALB2_00154
NA
unknown
-
Qi Ming
./.
1
04
c.1492G>T
-
p.Asp498Tyr
Exon
-
GenBank
PALB2_00153
A=0.005/2
unknown
-
Qi Ming
./.
2
04
c.1572A>G
-
-
Exon
-
GenBank
PALB2_00094
-
unknown, blood
-
Qi Ming
./.
1
04
c.1578T>A
-
p.His526Gln
Exon
-
GenBank
PALB2_00152
NA
unknown
-
Qi Ming
./.
3
04
c.1592delT
-
p.Leu531CysfsX30
Exon
-
GenBank
PALB2_00040
-
blood, lymphocytes & blood
-
Qi Ming
./.
1
04
c.1610C>T
-
p.Ser537Leu
Exon
-
GenBank
PALB2_00151
NA
unknown
-
Qi Ming
./.
1
04
c.1633G>T
-
p.Glu545X
Exon
-
GenBank
PALB2_00095
-
unknown
-
Qi Ming
./.
1
04
c.1637T>C
-
p.Val546Ala
Exon
-
GenBank
PALB2_00150
NA
unknown
-
Qi Ming
./.
2
4, 04
c.1653T>A
-
p.Tyr551X
Exon
-
GenBank
PALB2_00016
-
Lymphoblasts;Fibroblasts, unknow
-
Qi Ming
./.
1
04
c.1656G>A
-
-
Exon
-
GenBank
PALB2_00034
-
peripheral blood leuko- cytes
-
Qi Ming
./.
7
04
c.1676A>G
-
p.Gln559Arg
Exon
-
GenBank
PALB2_00021, PALB2_00035, PALB2_00063
-
Blood, peripheral blood leuko- cytes, unknown
-
Qi Ming
./.
1
04
c.1684+37_1684+39del
-
=
Intron
-
GenBank
PALB2_00107
-
blood
-
Qi Ming
./.
1
05
c.1685-1G>C
-
-
Intron
-
GenBank
PALB2_00014
-
Blood
-
Qi Ming
./.
1
05
c.1697G>A
-
p.Arg566His
Exon
-
GenBank
PALB2_00149
NA
unknown
-
Qi Ming
./.
1
05
c.1881G>A
-
p.Val627Met
Exon
-
GenBank
PALB2_00067
-
breast and pancreatic
-
Qi Ming
./.
1
05
c.1982C>T
-
p.Pro661Leu
Exon
-
GenBank
PALB2_00148
NA
unknown
-
Qi Ming
./.
5
05
c.2014G>C
-
p.Glu672Gln
Exon
-
GenBank
PALB2_00030
-
Blood, breast, unknown
-
Qi Ming
./.
1
05
c.2077C>T
-
p.His693Tyr
Exon
-
GenBank
PALB2_00147
NA
unknown
-
Qi Ming
./.
1
05
c.2140G>A
-
p.Asp714Asn
Exon
-
GenBank
PALB2_00146
NA
unknown
-
Qi Ming
./.
1
05
c.2147A>G
-
p.Asn716Ser
Exon
-
GenBank
PALB2_00145
NA
unknown
-
Qi Ming
./.
1
05
c.2200 A>T
-
p.Thr734Ser
Exon
-
GenBank
PALB2_00065
-
blood
-
Qi Ming
./.
1
05
c.2228A>G
-
p.Tyr743Cys
Exon
-
GenBank
PALB2_00144
NA
unknown
-
Qi Ming
./.
1
05
c.2234A>G
-
p.Lys745Arg
Exon
-
GenBank
PALB2_00143
NA
unknown
-
Qi Ming
./.
1
05
c.2257C>T
-
p.Arg753X
Exon
-
GenBank
PALB2_00009
-
lymphoblastoid cells;fibroblast
-
Qi Ming
./.
1
05
c.2323C>T
-
p.Gln775X
Exon
-
GenBank
PALB2_00111
-
Lymphocyte
-
Qi Ming
./.
1
05
c.2328C>A
-
p.Phe776Leu
Exon
-
GenBank
PALB2_00142
NA
unknown
-
Qi Ming
./.
1
05
c.2329G>A
-
p.Asp777Asn
Exon
-
GenBank
PALB2_00141
NA
unknown
-
Qi Ming
./.
1
05
c.2411C>T
-
p.Ser804Phe
Exon
-
GenBank
PALB2_00140
NA
unknown
-
Qi Ming
./.
1
05
c.2417C>T
-
p.Pro806Leu
Exon
-
GenBank
PALB2_00139
NA
unknown
-
Qi Ming
./.
1
05
c.2438T>C
-
p.Ile813Thr
Exon
-
GenBank
PALB2_00036
-
peripheral blood leuko- cytes
-
Qi Ming
./.
1
05
c.2514+71delC
-
-
Intron
-
GenBank
PALB2_00028
-
Blood
-
Qi Ming
./.
1
06
c.2561A>G
-
p.Asn854Ser
Exon
-
GenBank
PALB2_00138
NA
unknown
-
Qi Ming
./.
1
06
c.2586+58C>T
-
=
Intron
-
GenBank
PALB2_00052
-
blood
-
Qi Ming
./.
1
07
c.2587-37G>C
-
-
Intron
-
GenBank
PALB2_00047
-
blood
-
Qi Ming
./.
1
07
c.2590 C>T
-
p.Pro864Ser
Exon
-
GenBank
PALB2_00061
-
blood
-
Qi Ming
./.
2
07
c.2590C>T
-
p.Pro864Ser
Exon
-
GenBank
PALB2_00043
-
blood
-
Qi Ming
./.
1
07
c.2645G>A
-
p.Cys882Tyr
Exon
-
GenBank
PALB2_00137
NA
unknown
-
Qi Ming
./.
1
07
c.2660T>G
-
p.Ile887Ser
Exon
-
GenBank
PALB2_00136
NA
unknown
-
Qi Ming
./.
1
07
c.2661C>A
-
p.Ile887Ile
Exon
-
GenBank
PALB2_00062
-
blood
-
Qi Ming
./.
1
07
c.2673C>G
-
p.Cys891Trp
Exon
-
GenBank
PALB2_00135
C=0.003/1
unknown
-
Qi Ming
./.
1
07
c.2674G>A
-
p.Glu892Lys
Exon
-
GenBank
PALB2_00134
NA
unknown
-
Qi Ming
./.
1
07
c.2720A>G
-
p.Glu907Gly
Exon
-
GenBank
PALB2_00133
NA
unknown
-
Qi Ming
./.
1
08
c.2749-18C>T
-
=
Intron
-
GenBank
PALB2_00105
-
blood
-
Qi Ming
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