PALB2 (partner and localizer of BRCA2)
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Curator:
Instituto Nacional del Cancer
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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.
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
Zygosity
: Homozygous or Heterozygous
All options:
Homo
Hetero
Not specified
Co_ocurrence
: If the variant is present in co-ocurrence with a mutation, please select the name of the mutated gene. If not, please select "no".
All options:
no
N/A
BRCA1
BRCA2
CHEK2
MLH1
MSH2
MSH6
MUTYH
PALB2
PMS2
PTEN
APC
P53
STK11
TSC1
RET
VHL
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
DNA change (genomic) (hg38)
: 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.
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'
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38 entries on 1 page. Showing entries 1 - 38.
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How to query
Effect
Reported
Exon
DNA change (cDNA)
Protein
Zygosity
Co_ocurrence
RNA change
DNA change (genomic) (hg38)
Reference
DB-ID
Owner
+?/+?
1
11
exon 11 dup
=(?)
Hetero
no
=(?)
=(?)
-
PALB2_000033
Luisina Bruno-Instituto Alexander Fleming
?/?
1
1-12
exons 1-12 duplication
p.(?)
Hetero
no
r.(?)
exons 1-12 duplication
-
PALB2_000022
Santiago Acevedo-Hospital Británico (Servicio de MastologÃa)
+/+
3
1
c.7G>T
p.(Glu3*)
Hetero
N/A
r.(?)
g.23641151C>A
-
PALB2_000003
Lina Nuñez-Hospital Alemán
,
Marcela Lopez-CEMAFE
,
Luisina Bruno-Instituto Alexander Fleming
+/+
1
1
c.43G>T
p.(Glu15*)
Hetero
N/A
r.(?)
g.23641115C>A
-
PALB2_000032
Carolina Ponce-Instituto Alexander Fleming
?/?
1
4
c.896C>T
p.(Ser299Phe)
Hetero
no
r.(?)
g.23635650G>A
-
PALB2_000037
José Llugdar-IMOC
./-?, ?/-?, -/-?
4
4
c.1010T>C
p.(Leu337Ser)
Hetero
no, BRCA1
r.(?)
g.23635536A>G
-
PALB2_000014
Silvina Sisterna-Hospital Privado
,
Norma Rossi-Hospital Privado Centro Médico de Córdoba
,
Erika Stegmayer-CIOC
,
Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+
1
4
c.1042C>T
p.(Gln348*)
Hetero
N/A
r.(?)
g.23635504G>A
-
PALB2_000035
Luisina Bruno-Instituto Alexander Fleming
+/+
1
4
c.1192del
p.(Val398Cysfs*26)
Hetero
N/A
r.(?)
g.23635354del
-
PALB2_000038
Claudia Martin-Hospital Privado Centro Médico de Córdoba
?/?
1
4
c.1222T>C
p.(Tyr408His)
Hetero
no
r.(?)
g.23635324A>G
-
PALB2_000013
Alvaro Yanzi-Instituto San Marcos
./+, +/+
2
4
c.1240C>T
p.(Arg414*)
Hetero
N/A, P53
r.(?)
g.23635306G>A
-
PALB2_000031
Alejandra Mampel-COIR
?/-?
1
4
c.1273G>A
p.(Val425Met)
Hetero
no
r.(?)
g.23635273C>T
Reclassified November 2020
PALB2_000010
Rita Valdez-Hospital Alemán
./-?
1
4
c.1572A>G
p.(=)
Hetero
no
r.(=)
g.23634974T>C
-
PALB2_000020
Silvina Sisterna-Hospital Privado
+/+
1
4
c.1592del
p.(Leu531Cysfs*30)
Hetero
N/A
r.(?)
g.23634954del
-
PALB2_000023
Alejandra Mampel-COIR
+/+
25
4
c.1653T>A
p.(Tyr551*)
Hetero
N/A, BRCA2
r.(?)
g.23634893A>T
-
PALB2_000001
Lina Nuñez-Hospital Alemán
,
Carolina Ponce-Instituto Alexander Fleming
,
Alvaro Yanzi-Instituto San Marcos
,
Luisina Bruno-Instituto Alexander Fleming
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Patricia Quaglio-Consultorio AGO Lab CIGEN
,
Claudia Martin-Hospital Privado Centro Médico de Córdoba
,
Cecilia Montes-IMGO
,
Laura Vargas Roig-IMBECU
,
Alejandra Mampel-COIR
,
Silvina Sisterna-Hospital Privado
,
Norma Rossi-Hospital Privado Centro Médico de Córdoba
,
Maria Cecilia Riggi-Hospital Italiano
-/-, ./-, -/-?
17
4
c.1676A>G
p.(Gln559Arg)
Homo, Hetero, Not specified
no, ATM, BRCA1, BRCA2
r.(?)
g.23634870T>C
Reclassified June 2019
PALB2_000004
Silvina Sisterna-Hospital Privado
,
Lina Nuñez-Private Practice
,
Erika Stegmayer - Inst. Nuestra Señora de las Mercedes
,
Erika Stegmayer-CIOC
,
Laura Vargas Roig-IMBECU
,
Gonzalo Tabares-CEMA
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Claudia Martin-Hospital Privado Centro Médico de Córdoba
-/-?
1
5
c.1767G>A
p.(=)
Hetero
no
r.(=)
g.23630387C>T
-
PALB2_000007
Alejandra Mampel-Hospital Universitario de Mendoza
+?/+
1
5
c.1838delA
p.(Gln613Argfs*15)
Hetero
no
r.(?)
g.23630316delT
Reclassified November 2020
PALB2_000009
Gonzalo Tabares-CEMA
+/+
3
5
c.1959T>A
p.(Cys653*)
Hetero
N/A
r.(?)
g.23630195A>T
-
PALB2_000018
Claudia Martin-Hospital Privado Centro Médico de Córdoba
-?/-?, ./-?, -/-?, ./-
12
5
c.2014G>C
p.(Glu672Gln)
Hetero, Not specified, Homo
no, ATM, BRCA2
r.(?)
g.23630140C>G
Reclassified November 2020
PALB2_000006
Silvina Sisterna-Hospital Privado
,
Erika Stegmayer - Inst. Nuestra Señora de las Mercedes
,
Laura Vargas Roig-IMBECU
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Claudia Martin-Hospital Privado Centro Médico de Córdoba
?/?
1
5
c.2078A>T
p.(His693Leu)
Hetero
no
r.(?)
g.23630076T>A
-
PALB2_000016
Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+
5
5
c.2218C>T
p.(Gln740*)
Hetero
N/A
r.(?)
g.23629936G>A
-
PALB2_000034
Luisina Bruno-Instituto Alexander Fleming
,
Cecilia Montes-IMGO
,
Virginia Miretti - Hospital de Cordoba
+/+
1
5
c.2257C>T
p.(Arg753*)
Hetero
N/A
r.(?)
g.23629897G>A
-
PALB2_000026
Silvina Sisterna-Hospital Privado
+/+
3
5
c.2336C>G
p.(Ser779*)
Hetero
N/A, ATM
r.(?)
g.23629818G>C
-
PALB2_000025
Carolina Ponce-Instituto Alexander Fleming
,
Maria Constanza Vallone-Hospital Austral
,
Silvia Avila-Cons. y Lab. de Genetica
?/?
1
5
c.2506G>A
p.(Val836Ile)
Hetero
no
r.(?)
g.23629648C>T
-
PALB2_000019
Lina Nuñez-Private Practice
-?/-?
1
7
c.2590C>T
p.(Pro864Ser)
Hetero
no
r.(?)
g.23626394G>A
-
PALB2_000002
Lina Nuñez-Hospital Alemán
-/-?
1
8
c.2794G>A
p.(Val932Met)
Hetero
no
r.(?)
g.23624049C>T
-
PALB2_000012
Pablo Kalfayan-Hospital Italiano
+/.
1
9
c.2872_2875del
p.(Gln958Tyrfs*3)
Hetero
no
r.(?)
g.23623090_23623093del
-
PALB2_000036
Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+
1
9
c.2964del
p.(Val989*)
Hetero
N/A
r.(?)
g.23623001del
-
PALB2_000021
Lina Nuñez-Hospital Alemán
+/+
3
9
c.2964delA
p.(Val989*)
Hetero
N/A
r.(?)
g.23623001delT
-
PALB2_000024
Silvia Avila-Cons. y Lab. de Genetica
,
Cecilia Montes-IMGO
,
Alejandra Mampel-Hospital Universitario de Mendoza
-?/-?, ./-?, -/-?, ?/-?, ./-
10
9
c.2993G>A
p.(Gly998Glu)
Hetero, Not specified, Homo
no, ATM, BRCA2
r.(?)
g.23622972C>T
-
PALB2_000008
Silvina Sisterna-Hospital Privado
,
Erika Stegmayer - Inst. Nuestra Señora de las Mercedes
,
Laura Vargas Roig-IMBECU
,
Claudia Martin-Hospital Privado Centro Médico de Córdoba
,
Alejandra Mampel-Hospital Universitario de Mendoza
?/?
1
10
c.3035C>T
p.(Thr1012Ile)
Hetero
no
r.(?)
g.23621440G>A
-
PALB2_000011
Rita Valdez-Hospital Alemán
+/+
2
11
c.3124dup
p.(Thr1042Asnfs*11)
Hetero
N/A
r.(?)
g.23614081dup
-
PALB2_000015
Cecilia Montes-IMGO
?/?
1
12
c.3296C>T
p.(Thr1099Met)
Hetero
no
r.(?)
g.23607918G>A
-
PALB2_000027
Norma Rossi-Hospital Privado Centro Médico de Córdoba
-?/-?, ./-?, -/-?, ./-
11
12, 13
c.3300T>G
p.(=)
Hetero, Not specified, Homo
no, ATM, BRCA2
r.(=)
g.23607914A>C
Reclassified November 2020
PALB2_000005
Silvina Sisterna-Hospital Privado
,
Erika Stegmayer - Inst. Nuestra Señora de las Mercedes
,
Laura Vargas Roig-IMBECU
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Claudia Martin-Hospital Privado Centro Médico de Córdoba
+/+?
1
12i
c.3350+4A>G
p.?
Hetero
N/A
r.spl?
g.23607860T>C
-
PALB2_000029
Silvina Sisterna-Hospital Privado
?/?
1
13
c.3428T>A
p.(Leu1143His)
Hetero
no
r.(?)
g.23603592A>T
-
PALB2_000030
Silvina Sisterna-Hospital Privado
?/?
1
13
c.3433G>C
p.(Gly1145Arg)
Hetero
no
r.(?)
g.23603587C>G
-
PALB2_000028
Jesica Ramirez-Hospital Central de Mendoza
?/?
1
13
c.3451C>T
p.(Leu1151Phe)
Hetero
no
r.(?)
g.23603569G>A
-
PALB2_000017
Norma Rossi-Hospital Privado Centro Médico de Córdoba
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