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BRCA1 (BRCA1, DNA repair associated)
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Curator:
Instituto Nacional del Cancer
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Unique variants in the BRCA1 gene
The variants shown are described using the
NM_007294.3
NM_007294.4
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
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
FANCC
MLH1
MSH2
MSH6
MUTYH
PALB2
PMS2
PTEN
APC
TP53
STK11
TSC1
RET
VHL
PALB2
NBN
CDKN2A
LZTR1
ATM
ERCC5
NF1
SDHB
BARD1
NTHL1
FANCC
BLM
BRIP1
RAD51C
GJB2
G6PC
SMN1
Review status
: prueba
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.
dbSNP ID
: The dbSNP ID.
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.
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.
183 entries on 2 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Zygosity
Co_ocurrence
Review status
DNA change (genomic) (hg38)
Reference
DB-ID
dbSNP ID
Variant remarks
Owner
-/-
1
5'UTR
c.-848A>G
r.(=)
p.(=)
Hetero
no
-
g.43126099T>C
-
BRCA1_000030
-
-
Norma Rossi-Hospital de Córdoba
-/-
1
1i
c.-20+101C>G
r.(=)
p.(=)
Hetero
no
-
g.43125170G>C
-
BRCA1_000031
-
-
Norma Rossi-Hospital de Córdoba
-/-
134
1i
c.-19-115T>C
r.(=)
p.(=)
Homo, Hetero, Unknown
no, BRCA1, BRCA2
-
g.43124230A>G
-
BRCA1_000001
-
-
Norma Rossi-Hospital de Córdoba
,
Lina Nuñez-Hospital Alemán
,
Claudia Martin-Hospital de Córdoba
,
Jose Llugdar-Instituto Oulton
,
Luisina Bruno-Instituto Fleming
,
Florencia Petracchi-CEMIC
,
Rita Valdez-Hospital Alemán
,
Jose Llugdar-Clínica Reina Fabiola
,
Lina Nuñez-Private Practice
,
Dolores Mansilla-Instituto Roffo
,
Jesica Ramirez-Hospital Central de Mendoza
,
Lucas Sanchez-Sanatorio Méndez
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Pablo Kalfayan-CEMIC
,
Laura Vargas Roig-IMBECU
,
Pablo Kalfayan-Hospital Italiano
,
Francisca Masllorens-Hospital Austral
,
Cecilia Montes-IMGO
,
Alejandra Mampel-COIR
,
Celeste Michia-CEMIC
+/+
7
1-2
c.-19-?_80+?del
r.?, r.?., r.(?), .
p.?
Hetero
N/A
exons 1-2 deletion, exon 1-2 deletion
g.43124017-?_43124115del+?, g.43124017-?_43124115+?del
https://www.ncbi.nlm.nih.gov/pubmed/19405878
BRCA1_000116
-
-
Erika Stegmayer-Hospital Zenon Santillan
,
Alvaro Yanzi-Instituto San Marcos
,
Silvina Sisterna-Hospital de Comunidad
,
Erika Stegmayer-Inst. Nuestra Señora de las Mercedes
,
Dolores Mansilla-Instituto Roffo
+?/+?
1
3-4
deletion exon 3-4
r.?
p.?
Hetero
no
-
g.?
-
TP53_000027
-
-
Guillermo Alberto-Instituto Fleming
+/+
2
2
c.65T>C
r.(?)
p.(Leu22Ser)
Hetero
N/A
-
g.43124032A>G
-
BRCA1_000182
-
-
Maria Constanza Vallone-Hospital Austral
,
Erika Stegmayer-CIOC
+/+
1
2
c.66dupA
r.(?)
p.(Glu23Argfs*18)
Hetero
N/A
-
g.43124031dupT
-
BRCA1_000133
-
-
Norma Rossi-Hospital de Córdoba
+/+
12
2
c.68_69delAG
r.(?)
p.(Glu23Valfs*17)
Hetero
N/A, MSH2
-
g.43124028_43124029delCT
-
BRCA1_000010
-
-
Lina Nuñez-Hospital Alemán
,
Florencia Petracchi-CEMIC
,
Lucas Sanchez-Sanatorio Méndez
,
Dolores Mansilla-Instituto Roffo
,
Pablo Kalfayan-CEMIC
,
Lina Nuñez-Private Practice
,
Francisca Masllorens-Consultorio AGO-MANLAB
-/-
2
2i
c.81-14C>T
r.(=)
p.(=)
Hetero
no
-
g.43115793G>A
-
BRCA1_000045
-
-
Lina Nuñez-Hospital Alemán
,
Lina Nuñez-Private Practice
+/+?
1
3-5
c.81-?_212+?del
r.(?)
p.(?)
Hetero
N/A
RECLASSIFIED JUNE 2019
g.43106458_43115781del
-
BRCA1_000139
-
-
Laura Vargas Roig-IMBECU
?/?
1
3
c.107C>A
r.(?)
p.(Ser36Tyr)
Hetero
BRCA2
-
g.43115753G>T
-
BRCA1_000078
-
-
Rita Valdez-Hospital Alemán
+/+
1
3
c.117_118del
r.(?)
p.(Cys39*)
Hetero
N/A
-
g.43115742_43115743del
-
BRCA1_000190
-
-
Claudia Martin-Hospital de Córdoba
+?/+?, +/+?
2
3
c.121C>T
r.(121c>u)
p.(His41Tyr)
Hetero
no
-
g.43115739G>A
-
BRCA1_000200
-
-
Norma Rossi - Sanatorio Allende
+/+
1
3
c.122A>G
r.(?)
p.(His41Arg)
Hetero
N/A
-
g.43115738T>C
-
BRCA1_000070
-
-
Norma Rossi-Hospital de Córdoba
+/+, +/+?
3
5
c.140G>T
r.(?)
p.(Cys47Phe)
Hetero
N/A
RECLASSIFIED NOVEMBER 2020
g.43106528C>A
-
BRCA1_000125
-
-
Gabriela Norese-Hospital de Clínicas
?/?
1
4
c.172C>G
r.(?)
p.(Pro58Ala)
Hetero
no
-
g.43106496G>C
-
BRCA1_000162
-
-
Silvina Sisterna-Hospital de Comunidad
+/+
7
5
c.181T>G
r.(?)
p.(Cys61Gly)
Hetero
N/A
-
g.43106487A>C
-
BRCA1_000022
-
-
Laura Vargas Roig-IMBECU
,
Lina Nuñez-Private Practice
,
Cecilia Montes-IMGO
,
Florencia Petracchi-CEMIC
,
Luisina Bruno-Instituto Fleming
+/+
7
5, 4
c.211A>G
r.(?), r.(211a>g)
p.(Arg71Gly)
Hetero
CHEK2, N/A, PMS2
-
g.43106457T>C
-
BRCA1_000061
-
-
Santiago Acevedo-Hospital Británico (Servicio de Mastologiía)
,
Lucas Sanchez-Sanatorio Méndez
,
Norma Rossi-Hospital de Córdoba
,
Norma Rossi - Sanatorio Allende
,
Florencia Petracchi-CEMIC
,
Marina Antelo-Hospital Udaondo
+/+
1
4
c.212G>A
r.(?)
p.(Arg71Lys)
Hetero
N/A
-
g.43106456C>T
-
BRCA1_000155
-
-
Claudia Martin-Hospital de Córdoba
-/-
25
5i, 1i
c.213-161A>G
r.(=)
p.(=)
Homo, Hetero
no, BRCA2, BRCA1
-
g.43105117T>C
-
BRCA1_000023
-
-
Norma Rossi-Hospital de Córdoba
,
Claudia Martin-Hospital de Córdoba
?/-
1
6
c.314A>G
r.(?)
p.(Tyr105Cys)
Hetero
no
-
g.43104249T>C
-
BRCA1_000164
-
-
Silvina Sisterna-Hospital de Comunidad
+/+
1
6
c.335dup
r.(?)
p.(Asn112Lysfs*2)
Hetero
N/A
-
g.43104228dup
-
BRCA1_000157
-
-
Cecilia Montes-IMGO
?/?
2
6, 4
c.341C>G
r.(?)
p.(Ser114Cys)
Hetero
no, PALB2
-
g.43104222G>C
-
BRCA1_000174
-
-
Laura Vargas Roig-IMBECU
,
Norma Rossi-Hospital de Córdoba
+/+
1
6
c.427G>T
r.(?)
p.(Glu143*)
Hetero
N/A
-
g.43104136C>A
-
BRCA1_000104
-
-
Florencia Petracchi-CEMIC
-/-?
1
7i
c.441+36C>T
r.(=)
p.(=)
Hetero
no
RECLASSIFIED JULY 2022
g.43104086G>A
-
BRCA1_000032
-
-
Norma Rossi-Hospital de Córdoba
-/-
1
7i
c.441+38T>C
r.(=)
p.(=)
Hetero
no
-
g.43104084A>G
-
BRCA1_000038
-
-
Norma Rossi-Hospital de Córdoba
-/-?
1
7i
c.441+41C>T
r.(=)
p.(=)
Hetero
no
RECLASSIFIED JUNE 2019
g.43104081G>A
-
BRCA1_000033
-
-
Norma Rossi-Hospital de Córdoba
-/-
1
7i
c.441+51del
r.(=)
p.(=)
Hetero
BRCA1
-
g.43104071del
-
BRCA1_000071
-
UMD Neutral apr2013
Norma Rossi-Hospital de Córdoba
-/-?
1
7i
c.441+51T>C
r.(=)
p.(=)
Hetero
BRCA1
-
g.43104071A>G
-
BRCA1_000107
-
-
Florencia Petracchi-CEMIC
-/-?
1
7i
c.441+52C>T
r.(=)
p.(=)
Hetero
BRCA1
-
g.43104070G>A
-
BRCA1_000105
-
-
Florencia Petracchi-CEMIC
-/-
7
7i
c.441+52_441+63delCTTTTTTTTTTT
r.(=)
p.(=)
Hetero
no, BRCA2
-
g.43104059_43104070delAAAAAAAAAAAG
-
BRCA1_000055
-
-
Claudia Martin-Hospital de Córdoba
,
Norma Rossi-Hospital de Córdoba
-/-?
1
7i
c.441+52_441+64del
r.(=)
p.(=)
Hetero
no
RECLASSIFIED JUNE 2019
g.43104058_43104070del
-
BRCA1_000040
-
-
Norma Rossi-Hospital de Córdoba
-/-
1
7i
c.441+64del
r.(=)
p.(=)
Hetero
BRCA1
RECLASSIFIED JUNE 2019
g.43104058del
-
BRCA1_000106
-
-
Florencia Petracchi-CEMIC
-/-, -?/-
149
7i, 1i
c.442-34C>T
r.(=)
p.(=)
Hetero, Unknown, Homo
no, BRCA2, BRCA1
-
g.43099914G>A
-
BRCA1_000012
-
-
Norma Rossi-Hospital de Córdoba
,
Florencia Petracchi-CEMIC
,
Jose Llugdar-Instituto Oulton
,
Erika Stegmayer-Hospital Padilla
,
Luisina Bruno-Instituto Fleming
,
Jose Llugdar-Clínica Reina Fabiola
,
Lina Nuñez-Hospital Alemán
,
Lucas Sanchez-Sanatorio Méndez
,
Pablo Kalfayan-Hospital Italiano
,
Pablo Kalfayan-CEMIC
,
Gonzalo Tabares-CEMA
,
Lina Nuñez-Private Practice
,
Jesica Ramirez-Hospital Central de Mendoza
,
Rita Valdez-Hospital Alemán
,
Dolores Mansilla-Instituto Roffo
,
Yolanda Medina-Hospital de la Madre y el Niño
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Laura Vargas Roig-IMBECU
,
Francisca Masllorens-Hospital Austral
,
Maria Cecilia Paez-Hospital Italiano
,
Laura Igarzabal-CEMIC
,
Patricia Quaglio-Consultorio AGO Lab CIGEN
,
Claudia Martin-Hospital de Córdoba
,
Alejandra Mampel-COIR
,
Cecilia Montes-IMGO
,
Celeste Michia-CEMIC
,
Pin Ying Chen - Consultorio Particular
?/?
1
8
c.535T>C
r.(?)
p.(Tyr179His)
Hetero
no
-
g.43099787A>G
-
BRCA1_000161
-
-
Lina Nuñez-Hospital Alemán
+/+
1
8i
c.547+2T>A
r.spl?
p.?
Hetero
N/A
-
g.43099773A>T
-
BRCA1_000121
-
-
Pablo Kalfayan-Hospital Italiano
-/-, -?/-
4
9
c.591C>T
r.(=)
p.(=)
Hetero
no, BRCA1
-
g.43097246G>A
-
BRCA1_000054
-
-
Lina Nuñez-Hospital Alemán
,
Claudia Martin-Hospital de Córdoba
,
Laura Vargas Roig-IMBECU
-?/-?
1
10i
c.670+12G>A
r.(=)
p.(=)
Hetero
no
RECLASSIFIED MARCH 2018
g.43095834C>T
-
BRCA1_000044
-
-
Lina Nuñez-Private Practice
+/+
3
10
c.798_799delTT
r.(?)
p.(Ser267Lysfs*19), p.Ser267Lysfs*19
Hetero
N/A
-
g.43094732_43094733delAA
-
BRCA1_000143
-
-
Silvina Sisterna-Hospital de Comunidad
,
Erika Stegmayer-CIOC
-/-
1
9i
c.891G>A
r.(?)
p.(Met297Ile)
Homo
no
-
g.43094640C>T
-
BRCA1_000050
-
-
Norma Rossi-Hospital de Córdoba
-/-
1
11
c.981A>G
r.(=)
p.(=)
Hetero
no
-
g.43094550T>C
-
BRCA1_000097
-
-
Rita Valdez-Hospital Alemán
+/+
1
10
c.1016dupA
r.(?)
p.(Val340Glyfs*6)
Hetero
N/A
-
g.43094515dupT
-
BRCA1_000152
-
-
Lina Nuñez-Private Practice
-/-, ./-
70
11, 10
c.1067A>G
r.(?)
p.(Gln356Arg)
Hetero, Homo, Not specified
no, BRCA2, PMS2, BRCA1
-
g.43094464T>C
-
BRCA1_000021
-
-
Jose Llugdar-Instituto Oulton
,
Claudia Martin-Hospital de Córdoba
,
Norma Rossi-Hospital de Córdoba
,
Jose Llugdar-Clínica Reina Fabiola
,
Lina Nuñez-Hospital Alemán
,
Lina Nuñez-Private Practice
,
Silvina Sisterna-Hospital de Comunidad
,
Florencia Petracchi-CEMIC
,
Dolores Mansilla-Instituto Roffo
,
Laura Vargas Roig-IMBECU
,
Yolanda Medina-Hospital de la Madre y el Niño
,
Lucas Sanchez-Sanatorio Méndez
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Francisca Masllorens-Hospital Austral
,
Maria Constanza Vallone-Hospital Austral
,
Patricia Quaglio-Consultorio AGO Lab CIGEN
,
Pablo Kalfayan-Hospital Italiano
,
Luisina Bruno-Instituto Fleming
,
Rita Valdez-Hospital Alemán
,
Jesica Ramirez-Hospital Central de Mendoza
+/+
1
11
c.1067delA
r.(?)
p.(Gln356Argfs*18)
Hetero
N/A
-
g.43094464delT
-
BRCA1_000076
-
-
Rita Valdez-Hospital Alemán
+/+
1
11
c.1175_1214del
r.(?)
p.(Leu392Glnfs*5)
Hetero
N/A
-
g.43094317_43094356del
-
BRCA1_000189
-
-
Angeles Nico-Instituto Roffo
+/+
1
10
c.1360_1361del
r.(?)
p.(Ser454*)
Hetero
N/A
-
g.43094170_43094171del
-
BRCA1_000158
-
-
Silvina Sisterna-Hospital de Comunidad
+/+
1
11
c.1480C>T
r.(?)
p.(Gln494*)
Hetero
N/A
-
g.43094051G>A
-
BRCA1_000108
-
-
Lina Nuñez-Private Practice
-/-
1
11
c.1487G>A
r.(?)
p.(Arg496His)
Hetero
no
-
g.43094044C>T
-
BRCA1_000072
-
-
Lina Nuñez-Private Practice
+/+
2
10, 11
c.1504_1507del
r.(1504_1507del), r.(?)
p.(Leu502Serfs*29)
Hetero
N/A
-
g.43094026_43094029del, g.43094024_43094027del
-
BRCA1_000187
-
-
Cecilia Montes-IMGO
,
Cecilia Montes-Hospital de Niños de la Santísima Trinidad
+/+
2
11
c.1504_1507delTTAA
r.(?)
p.(Leu502Serfs*29)
Hetero
N/A
-
g.43094024_43094027delTTAA
-
BRCA1_000052
-
-
Laura Vargas Roig-IMBECU
,
Silvina Sisterna-Hospital de Comunidad
+/+
3
11
c.1510delC
r.(?)
p.(Arg504Valfs*28)
Hetero
N/A
-
g.43094021delG
-
BRCA1_000075
-
-
Rita Valdez-Hospital Alemán
-/-
1
11
c.1511G>A
r.(?)
p.(Arg504His)
Hetero
no
-
g.43094020C>T
-
BRCA1_000170
-
-
Dolores Mansilla-Instituto Roffo
+/+
2
11
c.1674delA
r.(?)
p.(Gly559Valfs*13)
Hetero
N/A
-
g.43093857delT
-
BRCA1_000053
-
-
Alejandra Mampel-Hospital Universitario de Mendoza
,
Pablo Kalfayan-Hospital Italiano
+/+
5
11
c.1687C>T
r.(?)
p.(Gln563*)
Hetero
N/A
-
g.43093844G>A
-
BRCA1_000029
rs80356898
-
Lina Nuñez-Private Practice
,
Gonzalo Tabares-CEMA
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Cecilia Montes-IMGO
?/?
1
11
c.1723G>A
r.(?)
p.(Glu575Lys)
Hetero
no
-
g.43093808C>T
-
BRCA1_000113
-
-
Florencia Petracchi-CEMIC
+/+
2
11
c.1729_1730del
r.(?)
p.(Glu577Ilefs*8)
Hetero
N/A
-
g.43093801_43093802del
-
BRCA1_000084
-
-
Jesica Ramirez-Hospital Central de Mendoza
?/?
1
11
c.1772T>C
r.(?)
p.(Ile591Thr)
Hetero
no
RECLASSIFIED JUNE 2019
g.43093759A>G
-
BRCA1_000057
-
-
Lina Nuñez-Private Practice
+/+
4
11
c.1817del
r.(?)
p.(Pro606Leufs*6)
Hetero
N/A
-
g.43093714del
-
BRCA1_000220
-
-
Jesica Ramirez-Hospital Central de Mendoza
,
Dolores Mansilla-Instituto Roffo
,
Angeles Nico-Instituto Roffo
?/-
1
11
c.1834A>G
r.(?)
p.(Arg612Gly)
Hetero
no
RECLASSIFIED NOVEMBER 2020
g.43093697T>C
-
BRCA1_000135
-
-
Jesica Ramirez-Hospital Central de Mendoza
-/-
1
10
c.1865C>T
r.(?)
p.(Ala622Val)
Hetero
BRCA1
-
g.43093666G>A
-
BRCA1_000144
-
-
Silvina Sisterna-Hospital de Comunidad
+/+
1
11
c.1912delG
r.(?)
p.(Glu638Asnfs*13)
Hetero
N/A
-
g.43093619delC
-
BRCA1_000127
-
-
Claudia Martin-Hospital de Córdoba
-/-
1
11
c.1971A>G
r.(=)
p.(=)
Hetero
no
-
g.43093560T>C
-
BRCA1_000122
-
-
Rita Valdez-Hospital Alemán
+/+
1
11
c.1979_1982del
r.(?)
p.(Val660Glyfs*40)
Hetero
N/A
-
g.43093549_43093552del
-
BRCA1_000132
-
-
Claudia Martin-Hospital de Córdoba
+/+
1
11
c.2043dupT
r.(?)
p.(Asn682*)
Hetero
N/A
-
g.43093488dupA
-
BRCA1_000036
-
-
Norma Rossi-Hospital de Córdoba
?/?
1
10
c.2075A>C
r.(2075a>c)
p.(His692Pro)
Hetero
ATM
-
g.43093456T>G
-
BRCA1_000205
rs2053831947
-
Pablo Kalfayan-Hospital Italiano
-/-, ./-
68
11, 7i
c.2077G>A
r.(?)
p.(Asp693Asn)
Hetero, Unknown, Homo, Not specified
no, BRCA2, BRCA1
-
g.43093454C>T
-
BRCA1_000016
-
-
Florencia Petracchi-CEMIC
,
Jesica Ramirez-Hospital Central de Mendoza
,
Silvina Sisterna-Hospital de Comunidad
,
Jose Llugdar-Clínica Reina Fabiola
,
Lucas Sanchez-Sanatorio Méndez
,
Lina Nuñez-Hospital Alemán
,
Pablo Kalfayan-CEMIC
,
Lina Nuñez-Private Practice
,
Norma Rossi-Hospital de Córdoba
,
Francisca Masllorens-Hospital Austral
,
Erika Stegmayer-CIOC
,
Gabriela Norese-Hospital de Clínicas
,
Angeles Nico-Instituto Roffo
,
Laura Vargas Roig-IMBECU
,
Pablo Kalfayan-Hospital Italiano
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Luisina Bruno-Instituto Fleming
,
Janeth Lara Alcantara-Hospital Alvarez
,
Rita Valdez-Hospital Alemán
,
Dolores Mansilla-Instituto Roffo
-/-, ./-
287
11
c.2082C>T
r.(=)
p.(=)
Hetero, Homo, Unknown, Not specified
no, BRCA2, BRCA1, BRCA2;MSH2
-
g.43093449G>A
-
BRCA1_000002
-
-
Florencia Petracchi-CEMIC
,
Cecilia Montes-IMGO
,
Norma Rossi-Hospital de Córdoba
,
Jose Llugdar-Instituto Oulton
,
Lina Nuñez-Hospital Alemán
,
Silvina Sisterna-Hospital de Comunidad
,
Jesica Ramirez-Hospital Central de Mendoza
,
Luisina Bruno-Instituto Fleming
,
Jose Llugdar-Clínica Reina Fabiola
,
Angeles Nico-Instituto Roffo
,
Lucas Sanchez-Sanatorio Méndez
,
Rita Valdez-Hospital Alemán
,
Pablo Kalfayan-CEMIC
,
Cecilia Montes-Hospital de Niños de la Santísima Trinidad
,
Lina Nuñez-Private Practice
,
Dolores Mansilla-Instituto Roffo
,
Claudia Martin-Hospital de Córdoba
,
Celeste Michia-CEMIC
,
Erika Stegmayer-Inst. Nuestra Señora de las Mercedes
,
Gabriela Norese-Hospital de Clínicas
,
Francisca Masllorens-Hospital Austral
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Erika Stegmayer-CIOC
,
Laura Igarzabal-CEMIC
,
Laura Vargas Roig-IMBECU
,
Pablo Kalfayan-Hospital Italiano
,
Maria Cecilia Paez-Hospital Italiano
,
Gonzalo Tabares-CEMA
,
Patricia Quaglio-Consultorio AGO Lab CIGEN
,
Gonzalo Tabares-CIBIC
,
Alejandra Mampel-COIR
+/+
1
10
c.2105dupT
r.(?)
p.(Leu702Phefs*10)
Hetero
N/A
-
g.43093426dupA
-
BRCA1_000150
-
-
Silvina Sisterna-Hospital de Comunidad
?/?
1
11
c.2258G>A
r.(?)
p.(Ser753Asn)
Hetero
no
-
g.43093273C>T
-
BRCA1_000112
-
-
Celeste Michia-CEMIC
+/+
1
10
c.2296_2297del
r.(?)
p.(Ser766*)
Hetero
N/A
-
g.43093234_43093235del
-
BRCA1_000173
-
-
Lina Nuñez-Private Practice
-/-, ./-
291
11
c.2311T>C
r.(=)
p.(=)
Hetero, Homo, Unknown, Not specified
no, BRCA2, BRCA1, BRCA2;MSH2
-
g.43093220A>G
-
BRCA1_000003
-
-
Pablo Kalfayan-CEMIC
,
Jose Llugdar-Instituto Oulton
,
Claudia Martin-Hospital de Córdoba
,
Florencia Petracchi-CEMIC
,
Norma Rossi-Hospital de Córdoba
,
Lina Nuñez-Hospital Alemán
,
Jesica Ramirez-Hospital Central de Mendoza
,
Silvina Sisterna-Hospital de Comunidad
,
Cecilia Montes-IMGO
,
Luisina Bruno-Instituto Fleming
,
Angeles Nico-Instituto Roffo
,
Jose Llugdar-Clínica Reina Fabiola
,
Lucas Sanchez-Sanatorio Méndez
,
Rita Valdez-Hospital Alemán
,
Cecilia Montes-Hospital de Niños de la Santísima Trinidad
,
Dolores Mansilla-Instituto Roffo
,
Lina Nuñez-Private Practice
,
Erika Stegmayer-Inst. Nuestra Señora de las Mercedes
,
Celeste Michia-CEMIC
,
Gabriela Norese-Hospital de Clínicas
,
Francisca Masllorens-Hospital Austral
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Erika Stegmayer-CIOC
,
Laura Igarzabal-CEMIC
,
Laura Vargas Roig-IMBECU
,
Pablo Kalfayan-Hospital Italiano
,
Maria Cecilia Paez-Hospital Italiano
,
Gonzalo Tabares-CEMA
,
Patricia Quaglio-Consultorio AGO Lab CIGEN
,
Gonzalo Tabares-CIBIC
,
Alejandra Mampel-COIR
?/?
1
11
c.2338C>G
r.(?)
p.(Gln780Glu)
Hetero
no
-
g.43093193G>C
-
BRCA1_000176
-
-
Lina Nuñez-Hospital Alemán
?/?
1
11
c.2357T>C
r.(?)
p.(Leu786Pro)
Hetero
no
RECLASSIFIED JUNE 2019
g.43093174A>G
-
BRCA1_000074
-
-
Florencia Petracchi-CEMIC
+?/+
1
11
c.2374_2398dup
r.(?)
p.(Lys800Argfs*9)
Hetero
N/A
-
g.43093133_43093157dup
-
BRCA1_000018
-
-
Luisina Bruno-Instituto Fleming
?/?
1
10
c.2404G>C
r.(?)
p.(Val802Leu)
Hetero
no
-
g.43093127C>G
-
BRCA1_000165
-
-
Silvina Sisterna-Hospital de Comunidad
-/-
1
11
c.2477C>A
r.(?)
p.(Thr826Lys)
Hetero
no
-
g.43093054G>T
-
BRCA1_000129
-
-
Florencia Petracchi-CEMIC
?/-?
1
11
c.2500G>C
r.(?)
p.(Gly834Arg)
Hetero
no
RECLASSIFIED JULY 2022
g.43093031C>G
-
BRCA1_000115
-
-
Pablo Kalfayan-CEMIC
+/+
2
11
c.2515delC
r.(?)
p.(His839Thrfs*7)
Hetero
N/A
-
g.43093016delG
-
BRCA1_000096
-
-
Rita Valdez-Hospital Alemán
-/-
3
11
c.2521C>T
r.(?)
p.(Arg841Trp)
Unknown, Hetero
no
-
g.43093010G>A
-
BRCA1_000046
-
-
Pablo Kalfayan-Hospital Italiano
,
Alvaro Yanzi-Instituto San Marcos
,
Laura Igarzabal-CEMIC
?/?
1
10
c.2559T>A
r.(?)
p.(Asp853Glu)
Hetero
N/A
-
g.43092972A>T
-
BRCA1_000151
-
-
Jose Llugdar-IMOC
+/+
2
11
c.2568T>G
r.(?)
p.(Tyr856*)
Hetero
N/A
-
g.43092963A>C
-
BRCA1_000067
-
-
Yolanda Isabel Medina - Hospital Juan D. Perón
,
Pablo Kalfayan-CEMIC
-/-, ./-, -?/-
314
11
c.2612C>T
r.(?)
p.(Pro871Leu)
Hetero, Homo, Unknown, Not specified
no, BRCA2, BRCA1, BRCA2;MSH2
-
g.43092919G>A
-
BRCA1_000004
-
-
Lina Nuñez-Private Practice
,
Pablo Kalfayan-CEMIC
,
Silvina Sisterna-Hospital de Comunidad
,
Florencia Petracchi-CEMIC
,
Norma Rossi-Hospital de Córdoba
,
Lina Nuñez-Hospital Alemán
,
Jesica Ramirez-Hospital Central de Mendoza
,
Cecilia Montes-IMGO
,
Angeles Nico-Instituto Roffo
,
Luisina Bruno-Instituto Fleming
,
Pablo Kalfayan-Hospital Italiano
,
Jose Llugdar-Clínica Reina Fabiola
,
Cecilia Montes-Hospital de Niños de la Santísima Trinidad
,
Lucas Sanchez-Sanatorio Méndez
,
Rita Valdez-Hospital Alemán
,
Dolores Mansilla-Instituto Roffo
,
Claudia Martin-Hospital de Córdoba
,
Erika Stegmayer-Inst. Nuestra Señora de las Mercedes
,
Celeste Michia-CEMIC
,
Gabriela Norese-Hospital de Clínicas
,
Francisca Masllorens-Hospital Austral
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Erika Stegmayer-CIOC
,
Laura Igarzabal-CEMIC
,
Laura Vargas Roig-IMBECU
,
Maria Cecilia Paez-Hospital Italiano
,
Alvaro Yanzi-Instituto San Marcos
,
Gonzalo Tabares-CEMA
,
Patricia Quaglio-Consultorio AGO Lab CIGEN
,
Gonzalo Tabares-CIBIC
,
Alejandra Mampel-COIR
,
Janeth Lara Alcantara-Hospital Alvarez
,
Francisca Masllorens-Consultorio AGO-MANLAB
+/+
1
11
c.2681_2682del
r.(?)
p.(Lys894Thrfs*8)
Unknown
N/A
other names: 2800delAA
g.43092849_43092850del
-
BRCA1_000146
-
-
Dolores Mansilla-Instituto Roffo
-/-?
1
11
c.2733A>G
r.(=)
p.(=)
Hetero
no
-
g.43092798T>C
-
BRCA1_000098
-
-
Rita Valdez-Hospital Alemán
?/?
1
10
c.2743T>A
r.(2743u>a)
p.(Ser915Thr)
Hetero
no
-
g.43092788A>T
-
BRCA1_000191
-
-
Claudia Martin-Hospital de Córdoba
?/?
1
10
c.2765C>G
r.(?)
p.(Thr922Arg)
Hetero
no
-
g.43092766G>C
-
BRCA1_000178
-
-
Silvina Sisterna-Hospital de Comunidad
?/?
1
11
c.2798G>A
r.(?)
p.(Gly933Asp)
Hetero
no
-
g.43092733C>T
-
BRCA1_000100
-
-
Florencia Petracchi-CEMIC
-?/-?
1
11
c.2811G>A
r.(=)
p.(=)
Hetero
no
-
g.43092720C>T
-
BRCA1_000136
-
-
Jesica Ramirez-Hospital Central de Mendoza
?/-?
1
11
c.2890G>A
r.(?)
p.(Gly964Arg)
Hetero
BRCA1
RECLASSIFIED JUNE 2019
g.43092641C>T
-
BRCA1_000109
-
-
Lina Nuñez-Private Practice
+/+
2
10
c.2952del
r.(?)
p.(Ile986Serfs*14)
Hetero
N/A
-
g.43092579del
-
BRCA1_000159
-
-
Silvina Sisterna-Hospital de Comunidad
-/-
1
11
c.3024G>A
r.(?)
p.(Met1008Ile)
Hetero
no
-
g.43092507C>T
-
BRCA1_000099
-
-
Rita Valdez-Hospital Alemán
-/-, ./-, -?/-
296
11
c.3113A>G
r.(?)
p.(Glu1038Gly)
Hetero, Homo, Unknown, Not specified
no, BRCA2, BRCA1, BRCA2;MSH2
-
g.43092418T>C
-
BRCA1_000006
-
-
Lina Nuñez-Private Practice
,
Pablo Kalfayan-CEMIC
,
Silvina Sisterna-Hospital de Comunidad
,
Florencia Petracchi-CEMIC
,
Cecilia Montes-IMGO
,
Norma Rossi-Hospital de Córdoba
,
Lina Nuñez-Hospital Alemán
,
Jesica Ramirez-Hospital Central de Mendoza
,
Angeles Nico-Instituto Roffo
,
Pablo Kalfayan-Hospital Italiano
,
Luisina Bruno-Instituto Fleming
,
Jose Llugdar-Clínica Reina Fabiola
,
Lucas Sanchez-Sanatorio Méndez
,
Rita Valdez-Hospital Alemán
,
Cecilia Montes-Hospital de Niños de la Santísima Trinidad
,
Dolores Mansilla-Instituto Roffo
,
Claudia Martin-Hospital de Córdoba
,
Erika Stegmayer-Inst. Nuestra Señora de las Mercedes
,
Celeste Michia-CEMIC
,
Gabriela Norese-Hospital de Clínicas
,
Francisca Masllorens-Hospital Austral
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Erika Stegmayer-CIOC
,
Laura Igarzabal-CEMIC
,
Laura Vargas Roig-IMBECU
,
Maria Cecilia Paez-Hospital Italiano
,
Gonzalo Tabares-CEMA
,
Patricia Quaglio-Consultorio AGO Lab CIGEN
,
Gonzalo Tabares-CIBIC
,
Alejandra Mampel-COIR
,
Janeth Lara Alcantara-Hospital Alvarez
,
Francisca Masllorens-Consultorio AGO-MANLAB
,
Jose Llugdar-Instituto Oulton
-/-, ./-
26
11
c.3119G>A
r.(?)
p.(Ser1040Asn)
Hetero, Not specified
no, BRCA1, BRCA2
-
g.43092412C>T
-
BRCA1_000019
-
-
Luisina Bruno-Instituto Fleming
,
Lucas Sanchez-Sanatorio Méndez
,
Florencia Petracchi-CEMIC
,
Pablo Kalfayan-Hospital Italiano
,
Silvina Sisterna-Hospital de Comunidad
,
Alvaro Yanzi-Instituto San Marcos
,
Lina Nuñez-Private Practice
,
Laura Igarzabal-CEMIC
,
Claudia Martin-Hospital de Córdoba
,
Laura Vargas Roig-IMBECU
,
Alejandra Mampel-Hospital Universitario de Mendoza
,
Lina Nuñez-Hospital Alemán
,
Dolores Mansilla-Instituto Roffo
?/?
1
11
c.3155A>G
r.(?)
p.(Asn1052Ser)
Hetero
no
-
g.43092376T>C
-
BRCA1_000117
-
-
Erika Stegmayer-Instituto de gastroenterología
+/+
2
10
c.3228_3229del
r.(?)
p.(Gly1077Alafs*8)
Hetero
N/A
-
g.43092302_43092303del
https://www.ncbi.nlm.nih.gov/clinvar/variation/37516/
BRCA1_000153, BRCA1_000185
rs80357635
-
Claudia Martin-Hospital de Córdoba
+/+
1
10
c.3285del
r.(3285del)
p.(Lys1095Asnfs*14)
Hetero
N/A
-
g.43092248del
-
BRCA1_000193
-
-
Maria Constanza Vallone-Hospital Austral
./+, +/+
2
11
c.3325_3329delAAAAA
r.(?)
p.(Lys1109Alafs*4)
Hetero
N/A
-
g.43092202_43092206delTTTTT
-
BRCA1_000184
-
-
Marcela Lopez-CEMAFE
+/+
1
10
c.3331C>T
r.(?)
p.(Gln1111*)
Hetero
N/A
-
g.43092200G>A
-
BRCA1_000154
-
-
Angeles Nico-Instituto Roffo
+/+
2
10
c.3331_3334del
r.(?)
p.(Gln1111Asnfs*5)
Hetero
N/A
-
g.43092197_43092200del
-
BRCA1_000148
-
-
Dolores Mansilla-Instituto Roffo
,
Silvina Sisterna-Hospital de Comunidad
+/+
1
11
c.3358_3359del
r.(?)
p.(Val1120*)
Hetero
N/A
-
g.43092172_43092173del
-
BRCA1_000120
-
-
Lina Nuñez-Hospital Alemán
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