Global Variome shared LOVD
BRCA1 (breast cancer 1, early onset)
LOVD v.3.0 Build 28d [
Current LOVD status
]
Register as submitter
|
Log in
Curators:
Maaike Vreeswijk
and
Johan den Dunnen
View all genes
View BRCA1 gene homepage
View graphs about the BRCA1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene BRCA1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene BRCA1
View all variants in gene BRCA1
Full data view for gene BRCA1
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 BRCA1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene BRCA1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene BRCA1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Full data view for gene BRCA1
All records
describing
functional studies
of specific variants.
BRCA1 variants
classified by the
ENIGMA consortium
.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database
.
FANCA - Fanconi anemia complementation group A (FANCA)
FANCB - Fanconi anemia complementation group B (FANCB)
FANCC - Fanconi anemia complementation group C (FANCC)
FANCD1 - Fanconi anemia complementation group D1 (BRCA2)
FANCD2 - Fanconi anemia complementation group D2 (FANCD2)
FANCE - Fanconi anemia complementation group E (FANCE)
FANCF - Fanconi anemia complementation group F (FANCF)
FANCG - Fanconi anemia complementation group G (FANCG)
FANCI - Fanconi anemia complementation group I (FANCI)
FANCJ - Fanconi anemia complementation group J (BRIP1)
FANCL - Fanconi anemia complementation group L (FANCL)
FANCM - Fanconi anemia complementation group M (FANCM)
FANCN - Fanconi anemia complementation group N (PALB2)
FANCO - Fanconi anemia complementation group O (RAD51C)
FANCP - Fanconi anemia complementation group P (SLX4)
FANCQ - Fanconi anemia complementation group Q (ERCC4)
FANCR - Fanconi anemia complementation group R (RAD51)
FANCS - Fanconi anemia complementation group S (BRCA1)
FANCT - Fanconi anemia complementation group T (UBE2T)
FANCU - Fanconi anemia complementation group U (XRCC2)
FANCV - Fanconi anemia complementation group V (MAD2L2)
FANCW - Fanconi anemia complementation group W (RFWD3)
The variants shown are described using the NM_007294.3 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.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
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. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
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
Haplotype
: haplotype on which variant was found
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
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
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
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)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
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.
34165 entries on 342 pages. Showing entries 1 - 100.
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
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Effect
Exon
DNA change (cDNA)
RNA change
Protein
Haplotype
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+/.
4i_7i
c.(134+1_135-1)_(441+1_442_1)del
r.?
p.?
-
Parent #1
-
pathogenic (dominant)
g.(41251898_41256138)_(41258551_41267742)del
-
LRG_292:g.(111450_113863)del
-
BRCA1_001700
-
Van Der Merwe 2020, submitted
-
-
Germline
-
1/744 cases
-
-
-
DNA
MLPA
-
-
cancer, breast
1884/18
Van Der Merwe 2020, submitted
analysis 744 individuals with breast/ovarian cancer
-
-
South Africa
white non Afrikaner
-
-
-
-
1
Nerina Chrisna van der Merwe
+/.
20i_24_
c.(5277+1_5278-1)_*1383{0}
r.?
p.?
-
Parent #1
ACMG
pathogenic (dominant)
g.(?_41196312)_(41203135_41209068)del
-
del ex21-24
-
BRCA1_001691
-
PubMed: Evans 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
cancer, breast
Pat68
PubMed: Evans 2022
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
23i_24_
c.(5467+1_5468-1)_*1383{0}
r.?
p.?
-
Parent #1
ACMG
pathogenic (dominant)
g.(?_41196312)_(41197820_41199659)del
-
del ex24
-
BRCA1_001694
-
PubMed: Evans 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
cancer, breast
Pat45
PubMed: Evans 2022
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
?/.
_1_12i
c.-232_ (4185+1_4186-1){2}
r.0?
p.0?
-
Unknown
-
VUS
g.(41234593_41242960)_(41277500_?)dup
-
-
-
BRCA1_004700
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
cancer, breast
?
-
-
-
-
Netherlands
-
-
-
-
-
1
Hans Gille
+/.
_1_17i
c.-232_(5074+1_5075-1){0}
r.?
p.?
-
Parent #1
ACMG
pathogenic (dominant)
g.(41215969_41219624)_(41277500_?)del
-
del ex1-17
-
BRCA1_001112
-
PubMed: Evans 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
cancer, breast
Pat32
PubMed: Evans 2022
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_21i
c.-232_(5332+1_5333-1){0}
r.?
p.?
-
Parent #1
ACMG
pathogenic (dominant)
g.(41201212_41203079)_(41277500_?)del
-
del ex1-21
-
BRCA1_001664
-
PubMed: Evans 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
cancer, breast
Pat69
PubMed: Evans 2022
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_2i
c.-232_(80+1_81-1){0}
r.?
p.?
-
Parent #1
ACMG
pathogenic (dominant)
g.(41267797_41276033)_(41277500_?)del
-
del ex1-2
-
BRCA1_001184
-
PubMed: Evans 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
cancer, breast
Pat33
PubMed: Evans 2022
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_2i
c.-232_(80+1_81-1){0}
r.?
p.?
-
Parent #1
ACMG
pathogenic (dominant)
g.(41267797_41276033)_(41277500_?)del
-
del ex1-2
-
BRCA1_001184
-
PubMed: Evans 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
cancer, breast
Pat41
PubMed: Evans 2022
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_3i
c.-232_(134+1_135-1){0}
r.0?
p.0?
-
Unknown
-
pathogenic
g.(41258551_41267742)_(41343599_41345058)del
g.(43106534_43115725)_(43191582_43193041)del
c.(-67790_-66331)_(134+1_135-1)del
-
BRCA1_006092
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRlr, SEQ, SEQ-NG-I
-
-
cancer, breast
F-1067
-
-
-
-
Hungary
-
-
-
-
-
1
Anikó Bozsik
+/.
_1_20i
c.-232_5278-637{0}
r.0?
p.0?
-
Unknown
-
pathogenic
g.41203798_41336526del
g.43051781_43184509del
NG_005905.2:g.33502_166230del
-
BRCA1_006086
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRlr, SEQ, SEQ-NG-I
-
-
cancer, breast
F-1052
-
-
-
-
Hungary
-
-
-
-
-
1
Anikó Bozsik
+/.
_1_2i
c.-232_80+3829{0}
r.?
p.?
-
Unknown
-
pathogenic
g.41272205_41310294del
g.43120188_43158277del
-33026_80+3829del36935
-
BRCA1_004676
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Ans M.W. van den Ouweland
+/.
_1_2i
c.-232_80+3829{0}
r.?
p.?
-
Unknown
-
pathogenic
g.41272205_41310294del
g.43120188_43158277del
-33026_80+3829del36935
-
BRCA1_004676
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Ans M.W. van den Ouweland
+/.
_1_2i
c.-232_80+2226{0}
r.0?
p.0?
-
Unknown
-
pathogenic
g.41273870_41310178del
g.43121853_43158161del
c.-32848_80+2226del
-
BRCA1_006087
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRlr, SEQ, SEQ-NG-I
-
-
cancer, breast
F-1055
-
-
-
-
Hungary
-
-
-
-
-
1
Anikó Bozsik
+/.
_1_2i
c.-232_80+2333{0}
r.0?
p.0?
-
Unknown
-
pathogenic
g.41273718_41310030del
g.43121701_43158013del
c.-32745_80+2333del
-
BRCA1_006088
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRlr, SEQ, SEQ-NG-I
-
-
cancer, breast
F-1276
-
-
-
-
Hungary
-
-
-
-
-
1
Anikó Bozsik
+/.
_1_3i
c.-232_134+3913{0}
r.0?
p.0?
-
Unknown
-
pathogenic
g.41263834_41285047del
g.43111817_43133030del
NG_005905.2:g.84958_106171del
-
BRCA1_006089
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRlr, SEQ, SEQ-NG-I
-
-
cancer, breast
Sz-2533
-
-
-
-
Hungary
-
-
-
-
-
1
Anikó Bozsik
+/+
_1_2i
c.-232_80+468{0}
r.0?
p.0?
-
Unknown
-
pathogenic
g.41275566_41284888delinsN[8]
-
-7621_80+468delins9
-
BRCA1_001199
-
-
-
-
Unknown
?
-
-
-
-
DNA
SEQ
?
-
cancer, breast
-
-
-
-
?
Netherlands
-
-
-
-
-
1
Juul Wijnen
+/.
_1_2i
c.-232_80+468{0}
r.?
p.?
-
Unknown
-
pathogenic
g.41275566_41284888delinsN[8]
-
-7620_80+468delins8
-
BRCA1_001199
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Ans M.W. van den Ouweland
+/.
_1_2i
c.-232_80+468{0}
r.?
p.?
-
Unknown
-
pathogenic
g.41275566_41284888delinsN[8]
-
-7620_80+468delins8
-
BRCA1_001199
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Ans M.W. van den Ouweland
+/.
_1_2i
c.-232_80+468{0}
r.?
p.?
-
Unknown
-
pathogenic
g.41275566_41284888delinsN[8]
-
-7620_80+468delins8
-
BRCA1_001199
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Ans M.W. van den Ouweland
+/.
_1_2i
c.-232_80+468{0}
r.?
p.?
-
Unknown
-
pathogenic
g.41275566_41284888delinsN[8]
-
-7620_80+468delins8
-
BRCA1_001199
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Ans M.W. van den Ouweland
+/.
_1_2i
c.-232_80+468{0}
r.?
p.?
-
Unknown
-
pathogenic
g.41275566_41284888delinsN[8]
-
-7620_80+468delins8
-
BRCA1_001199
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Ans M.W. van den Ouweland
+/.
_1_2i
c.-232_80+468{0}
r.?
p.?
-
Unknown
-
pathogenic
g.41275566_41284888delinsN[8]
-
-7620_80+468delins8
-
BRCA1_001199
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Ans M.W. van den Ouweland
?/.
_1_2i
c.-232_80+3351{2)
r.?
p.?
-
Unknown
-
VUS
g.41272731_41279989dup
g.43120714_43127972dup
-
-
BRCA1_006090
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRlr, SEQ
-
-
cancer, breast
Sz-1203
-
-
-
-
Hungary
-
-
-
-
-
1
Anikó Bozsik
?/.
_1_2i
c.-232_80+3351{2)
r.?
p.?
-
Unknown
-
VUS
g.41272731_41279989dup
g.43120714_43127972dup
-
-
BRCA1_006090
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRlr, SEQ, SEQ-NG-I
-
-
cancer, breast
F-1485
-
-
-
-
Hungary
-
-
-
-
-
1
Anikó Bozsik
?/.
_1_2i
c.-232_80+3351{2)
r.?
p.?
-
Unknown
-
VUS
g.41272731_41279989dup
g.43120714_43127972dup
-
-
BRCA1_006090
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRlr, SEQ, SEQ-NG-I
-
-
cancer, breast
EF-149
-
-
-
-
Hungary
-
-
-
-
-
1
Anikó Bozsik
-/-
_1
c.-2617_-2616del
r.(?)
p.(=)
-
Parent #1
-
benign
g.41279884_41279885del
g.43127867_43127868del
-
-
BRCA1_004602
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.37 (African), derived from 1000 genomes (2012-04-30). Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message.
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-2614T>C
r.(?)
p.(=)
-
Parent #1
-
benign
g.41279882A>G
g.43127865A>G
-
-
BRCA1_004601
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.22 (African), 0.36 (European), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-2569G>T
r.(?)
p.(=)
-
Parent #1
-
benign
g.41279837C>A
g.43127820C>A
-
-
BRCA1_004600
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.13 (African), 0.35 (European), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-2502T>C
r.(?)
p.(=)
-
Parent #1
-
benign
g.41279770A>G
g.43127753A>G
-
-
BRCA1_004599
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.21 (African), 0.37 (European), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-2293C>G
r.(?)
p.(=)
-
Parent #1
-
benign
g.41279561G>C
g.43127544G>C
-
-
BRCA1_004598
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.87 (African), 0.37 (European), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-2266G>A
r.(?)
p.(=)
-
Parent #1
-
benign
g.41279534C>T
g.43127517C>T
-
-
BRCA1_004597
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.05 (African), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-2261T>C
r.(?)
p.(=)
-
Parent #1
-
benign
g.41279529A>G
g.43127512A>G
-
-
BRCA1_004596
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02 (African), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_3i
c.-232_(134+1_135-1){0}
r.?
p.?
-
Unknown
-
pathogenic
g.(41258551_41267742)_(41277697_41281030)del
g.(43106534_43115725)_(43125680_43129013)del
NG_005905.2:g.(88971_92304)_(102259_111450)del
-
BRCA1_006091
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRlr, SEQ, SEQ-NG-I
-
-
cancer, breast
F-1361
-
-
-
-
Hungary
-
-
-
-
-
1
Anikó Bozsik
-/-
_1
c.-2030T>C
r.(?)
p.(=)
-
Parent #1
-
benign
g.41279298A>G
g.43127281A>G
-
-
BRCA1_004595
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.22 (African), 0.36 (European), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-1959C>T
r.(?)
p.(=)
-
Parent #1
-
benign
g.41279227G>A
g.43127210G>A
-
-
BRCA1_004594
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03 (African), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-1648T>C
r.(?)
p.(=)
-
Parent #1
-
benign
g.41278916A>G
g.43126899A>G
-
-
BRCA1_004593
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.71 (African), 0.36 (European), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-1619G>A
r.(?)
p.(=)
-
Parent #1
-
benign
g.41278887C>T
g.43126870C>T
-
-
BRCA1_004592
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.04 (European), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-1465G>A
r.(?)
p.(=)
-
Parent #1
-
benign
g.41278733C>T
g.43126716C>T
-
-
BRCA1_004591
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.08 (African), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-1457G>C
r.(?)
p.(=)
-
Parent #1
-
benign
g.41278725C>G
g.43126708C>G
-
-
BRCA1_004590
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.5 (African), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Unknown
-
pathogenic
g.(41267797_41276033)_(41278656_?)del
-
del ex1a-2
-
BRCA1_004864
-
PubMed: Arai 2018
,
Journal: Arai 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
BROVCA
29176636-Pat
PubMed: Arai 2018
,
Journal: Arai 2018
analysis 860 breast/ovarian cancer pedigrees
-
-
Japan
-
-
-
-
-
2
Johan den Dunnen
+/.
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Parent #1
-
pathogenic (dominant)
g.(41267797_41276033)_(41278656_?)del
-
c.(?_-1387-1)_(80+1_81-1)del
-
BRCA1_004864
-
PubMed: Santonocito 2020
-
-
Germline
-
3/2351 cases
-
-
-
DNA
SEQ-NG
-
BRCA1/2 sequencing
BROVCA
?
PubMed: Santonocito 2020
analysis 2351 breast/ovarian cancer patients
-
-
Italy
-
-
-
-
-
3
Johan den Dunnen
+/.
_1_9i
c.-232_(593+1_594-1){0}
r.0?
p.0?
-
Unknown
-
pathogenic
g.(41247940_41249260)_(41278656_?)del
-
del ex1a-9
-
BRCA1_004863
-
PubMed: Arai 2018
,
Journal: Arai 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
BROVCA
29176636-Pat
PubMed: Arai 2018
,
Journal: Arai 2018
analysis 860 breast/ovarian cancer pedigrees
-
-
Japan
-
-
-
-
-
1
Johan den Dunnen
-/-
_1
c.-1109C>T
r.(?)
p.(=)
-
Parent #1
-
benign
g.41278377G>A
g.43126360G>A
-
-
BRCA1_004589
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.22 (African), 0.36 (European), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-1074C>G
r.(=)
p.(=)
-
Unknown
kConFab
benign
g.41278342G>C
g.43126325G>C
g.3565 C>G
-
BRCA1_002939
-
kConFab variant classification: PM
-
-
Germline
-
47/1658
-
-
-
DNA
SEQ
-
-
cancer, breast
-
-
47 breast-ovarian cancer families (kConFab)
-
-
Australia;New Zealand
-
-
-
-
-
47
kConFab - Heather Thorne
?/.
_1
c.-1044C>T
r.(=)
p.(=)
-
Unknown
-
VUS
g.41278312G>A
g.43126295G>A
-
-
BRCA1_005321
-
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs554849044
Germline
-
2/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Italy;Czech Republic
-
-
-
-
-
2
Lez J Burke
?/.
_1
c.-1044C>T
r.(=)
p.(=)
-
Unknown
-
VUS
g.41278312G>A
g.43126295G>A
-
-
BRCA1_005321
-
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs554849044
Germline
-
1/1103 controls
-
-
-
DNA
SEQ
-
promoter/5'UTR
Healthy/Control
30204945-controls
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 1103 controls
F
-
Italy
-
-
-
-
-
1
Lez J Burke
?/.
_1
c.-948G>A
r.(=)
p.(=)
-
Unknown
-
VUS
g.41278216C>T
g.43126199C>T
-
-
BRCA1_005320
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
Germline
-
2/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Czech Republic
-
-
-
-
-
2
Lez J Burke
?/.
_1
c.-946G>A
r.(=)
p.(=)
-
Unknown
-
VUS
g.41278214C>T
g.43126197C>T
-
-
BRCA1_005319
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
Germline
-
1/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Italy
-
-
-
-
-
1
Lez J Burke
?/.
_1
c.-939C>T
r.(=)
p.(=)
-
Unknown
-
VUS
g.41278207G>A
g.43126190G>A
-
-
BRCA1_005318
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs941238609
Germline
-
1/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Italy
-
-
-
-
-
1
Lez J Burke
?/.
_1
c.-932T>C
r.(=)
p.(=)
-
Unknown
-
VUS
g.41278200A>G
g.43126183A>G
-
-
BRCA1_005317
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
Germline
-
1/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Italy
-
-
-
-
-
1
Lez J Burke
-/-
_1
c.-848A>G
r.(?)
p.(=)
-
Parent #1
-
benign
g.41278116T>C
g.43126099T>C
-
-
BRCA1_004588
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.33 (Asian), 0.72 (African), 0.37 (European), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
_1
c.-730C>T
r.(=)
p.(=)
-
Unknown
-
benign
g.41277998G>A
g.43125981G>A
-
-
BRCA1_005316
-
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs73625095
Germline
-
77/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Belgium;Italy;Czech Republic
-
-
-
-
-
77
Lez J Burke
-/.
_1
c.-730C>T
r.(=)
p.(=)
-
Unknown
-
benign
g.41277998G>A
g.43125981G>A
-
-
BRCA1_005316
-
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs73625095
Germline
-
33/1103 controls
-
-
-
DNA
SEQ
-
promoter/5'UTR
Healthy/Control
30204945-controls
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 1103 controls
F
-
Italy;Czech Republic
-
-
-
-
-
33
Lez J Burke
-/-
_1
c.-728A>G
r.(?)
p.(=)
-
Parent #1
-
benign
g.41277996T>C
g.43125979T>C
-
-
BRCA1_004587
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.06 (European), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
_1
c.-676T>A
r.(=)
p.(=)
-
Unknown
-
benign
g.41277944A>T
g.43125927A>T
-
-
BRCA1_005315
-
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs8176072
Germline
-
45/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Belgium;Czech Republic
-
-
-
-
-
45
Lez J Burke
-/.
_1
c.-676T>A
r.(=)
p.(=)
-
Unknown
-
benign
g.41277944A>T
g.43125927A>T
-
-
BRCA1_005315
-
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs8176072
Germline
-
10/1103 controls
-
-
-
DNA
SEQ
-
promoter/5'UTR
Healthy/Control
30204945-controls
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 1103 controls
F
-
Czech Republic
-
-
-
-
-
10
Lez J Burke
?/.
_1
c.-593T>C
r.(=)
p.(=)
-
Unknown
-
VUS
g.41277861A>G
g.43125844A>G
-
-
BRCA1_005314
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
Germline
-
1/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Belgium
-
-
-
-
-
1
Lez J Burke
-/.
_1
c.-589A>G
r.(=)
p.(=)
-
Unknown
-
benign
g.41277857T>C
g.43125840T>C
-
-
BRCA1_005313
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs563017140
Germline
-
4/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Belgium;Czech Republic
-
-
-
-
-
4
Lez J Burke
-/.
_1
c.-585C>A
r.(=)
p.(=)
-
Unknown
-
benign
g.41277853G>T
g.43125836G>T
-
-
BRCA1_005312
-
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs73625094
Germline
-
19/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
France;Belgium;Italy;Czech Republic;Spain
-
-
-
-
-
19
Lez J Burke
-/.
_1
c.-585C>A
r.(=)
p.(=)
-
Unknown
-
benign
g.41277853G>T
g.43125836G>T
-
-
BRCA1_005312
-
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs73625094
Germline
-
8/1103 controls
-
-
-
DNA
SEQ
-
promoter/5'UTR
Healthy/Control
30204945-controls
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 1103 controls
F
-
Italy
-
-
-
-
-
8
Lez J Burke
?/.
_1
c.-577A>G
r.(=)
p.(=)
-
Unknown
-
VUS
g.41277845T>C
g.43125828T>C
-
-
BRCA1_005311
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
Germline
-
1/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Italy
-
-
-
-
-
1
Lez J Burke
?/.
_1
c.-516A>C
r.(=)
p.(=)
-
Unknown
-
VUS
g.41277784T>G
g.43125767T>G
-
-
BRCA1_005310
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
Germline
-
1/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Italy
-
-
-
-
-
1
Lez J Burke
-/.
_1
c.-497G>A
r.(=)
p.(=)
-
Unknown
-
benign
g.41277765C>T
g.43125748C>T
-
-
BRCA1_005309
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs8176074
Germline
-
3/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Belgium
-
-
-
-
-
3
Lez J Burke
?/.
_1
c.-408T>A
r.(=)
p.(=)
-
Unknown
-
VUS
g.41277676A>T
g.43125659A>T
-
-
BRCA1_005308
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
Germline
-
1/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Italy
-
-
-
-
-
1
Lez J Burke
?/.
_1
c.-408T>A
r.=
p.=
-
Unknown
-
NA
g.41277676A>T
g.43125659A>T
-
-
BRCA1_005308
expression cloning luciferase assay no effect
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-380G>A
r.(=)
p.(=)
-
Unknown
-
VUS
g.41277648C>T
g.43125631C>T
-
-
BRCA1_005307
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
Germline
-
3/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Italy;Spain;Czech Republic
-
-
-
-
-
3
Lez J Burke
?/.
_1
c.-380G>A
r.=
p.=
-
Unknown
-
NA
g.41277648C>T
g.43125631C>T
-
-
BRCA1_005307
expression cloning luciferase assay no effect
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-378C>A
r.(=)
p.(=)
-
Unknown
-
VUS
g.41277646G>T
g.43125629G>T
-
-
BRCA1_005306
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs186775935
Germline
-
1/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Belgium
-
-
-
-
-
1
Lez J Burke
?/.
_1
c.-378C>A
r.=
p.=
-
Unknown
-
NA
g.41277646G>T
g.43125629G>T
-
-
BRCA1_005306
expression cloning luciferase assay no effect
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
_1
c.-371G>T
r.(=)
p.(=)
-
Unknown
-
likely benign
g.41277639C>A
g.43125622C>A
-
-
BRCA1_005305
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
Germline
-
1/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Czech Republic
-
-
-
-
-
1
Lez J Burke
?/.
_1
c.-366C>T
r.(=)
p.(=)
-
Unknown
-
VUS
g.41277634G>A
g.43125617G>A
-
-
BRCA1_005304
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
Germline
-
2/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Czech Republic
-
-
-
-
-
2
Lez J Burke
?/.
_1
c.-315del
r.(=)
p.(=)
-
Unknown
-
VUS
g.41277586del
g.43125569del
-
-
BRCA1_005303
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs901029407
Germline
-
1/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Spain
-
-
-
-
-
1
Lez J Burke
+?/.
1
c.-315del
r.(=)
p.(=)
-
Unknown
-
NA
g.41277586del
g.43125569del
-
-
BRCA1_005303
expression cloning luciferase assay 0.7x decreased (MCF7 cells)
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-287C>T
r.(=)
p.(=)
-
Unknown
-
VUS
g.41277555G>A
g.43125538G>A
-
-
BRCA1_005302
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
Germline
-
1/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Italy
-
-
-
-
-
1
Lez J Burke
+?/.
1
c.-287C>T
r.(=)
p.(=)
-
Unknown
-
NA
g.41277555G>A
g.43125538G>A
-
-
BRCA1_005302
expression cloning luciferase assay 1.5x increased (MCF7 cells)
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
_1_1i
c.-283_-20+188|gom
r.0?
p.0?
-
Parent #1
-
likely pathogenic
g.41277100_41277551|gom
-
-
-
BRCA1_005079
-
-
-
-
Somatic
-
-
-
-
allele methylated
DNA
SEQms
-
bisulfite sequencing
BROVCA
Fam1
Journal: Evans 2018
3-generation family, 3 affected (3F), 4 non-affected carriers (F, 3M)
F
-
United Kingdom (Great Britain)
-
-
-
-
-
3
Elke M van Veen
+?/.
_1_1i
c.-283_-20+188|gom
r.0?
p.0?
-
Parent #1
-
likely pathogenic
g.41277100_41277551|gom
-
-
-
BRCA1_005079
-
Journal: Evans 2018
-
-
Somatic
-
-
-
-
allele methylated
DNA
SEQms
-
bisulfite sequencing
BROVCA
Fam2
Journal: Evans 2018
3-generation family, 2 affected (F) carriers, 2 unaffected carriers (F, M)
F
-
United Kingdom (Great Britain)
-
-
-
-
-
4
Elke M van Veen
-/-
_1
c.-273G>A
r.(?)
p.(=)
-
Parent #1
-
benign
g.41277541C>T
g.43125524C>T
-
-
BRCA1_004586
Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02 (African), derived from 1000 genomes (2012-04-30).
ENIGMA classification criteria
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
_1
c.-273G>A
r.(=)
p.(=)
-
Unknown
-
benign
g.41277541C>T
g.43125524C>T
-
-
BRCA1_004586
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs112960339
Germline
-
4/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Belgium
-
-
-
-
-
4
Lez J Burke
?/.
1
c.-273G>A
r.=
p.=
-
Unknown
-
NA
g.41277541C>T
g.43125524C>T
-
-
BRCA1_004586
expression cloning luciferase assay no effect
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_1
c.-264T>G
r.(=)
p.(=)
-
Unknown
-
VUS
g.41277532A>C
g.43125515A>C
-
-
BRCA1_005301
not in 1103 controls
PubMed: Burke 2018
,
Journal: Burke 2018
-
rs904148166
Germline
-
1/6475 cases
-
-
-
DNA
SEQ
-
promoter/5'UTR
cancer, breast
30204945-cases
PubMed: Burke 2018
,
Journal: Burke 2018
analysis 6475 cases
-
-
Czech Republic
-
-
-
-
-
1
Lez J Burke
?/.
1
c.-264T>G
r.=
p.=
-
Unknown
-
NA
g.41277532A>C
g.43125515A>C
-
-
BRCA1_005301
expression cloning luciferase assay no effect
PubMed: Burke 2018
,
Journal: Burke 2018
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_2i
c.-232-31433_80+4171{0}
r.?
p.?
-
Parent #1
-
pathogenic
g.41271863_41308933del
g.43119846_43156916del
-
-
BRCA1_005065
-
Journal: Rebbeck 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
CIMBA-Fam?
Journal: Rebbeck 2018
1 family
F
-
France
white
-
-
-
-
1
Johan den Dunnen
+/.
_1_2i
c.-232-31433_80+4171{0}
r.?
p.?
-
Parent #1
-
pathogenic
g.41271863_41308933del
g.43119846_43156916del
-
-
BRCA1_005065
-
Journal: Rebbeck 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
CIMBA-Fam?
Journal: Rebbeck 2018
2 families
F
-
Italy
white
-
-
-
-
2
Johan den Dunnen
+/.
_1_2i
c.-232-31433_80+4171{0}
r.?
p.?
-
Parent #1
-
pathogenic
g.41271863_41308933del
g.43119846_43156916del
-
-
BRCA1_005065
-
Journal: Rebbeck 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
CIMBA-Fam?
Journal: Rebbeck 2018
1 family
F
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.-232_(-20+1_-19-1){0}
r.0?
p.0?
-
Parent #1
-
pathogenic
g.(41276133_41277287)_(41277500_?)del
-
c.-232-?_-19+?del
-
BRCA1_001656
-
Journal: Rebbeck 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
CIMBA-Fam?
Journal: Rebbeck 2018
1 family
F
-
United Kingdom (Great Britain)
white
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.-232_(-20+1_-19-1){0}
r.0?
p.0?
-
Parent #1
-
pathogenic
g.(41276133_41277287)_(41277500_?)del
-
c.-232-?_-19+?del
-
BRCA1_001656
-
Journal: Rebbeck 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
CIMBA-Fam?
Journal: Rebbeck 2018
1 family
F
-
United States
Jewish-Ashkenazi
-
-
-
-
1
Johan den Dunnen
+/+
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Unknown
-
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
-?_80+?del
-
BRCA1_001184
-
-
-
-
Unknown
?
-
-
-
-
DNA
SEQ
?
-
cancer, breast
-
-
-
-
?
Belgium
-
-
-
-
-
1
Genevieve Michils
+/+
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Unknown
-
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
c.-232-?_80+?del
-
BRCA1_001184
-
-
-
-
Unknown
-
-
-
-
-
DNA
MLPA
-
-
cancer, breast
-
-
-
F
-
Netherlands
-
-
-
-
-
1
Rien Blok
+/+
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Parent #1
-
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
deletion exons 1-2
-
BRCA1_001184
-
-
-
-
Unknown
-
-
-
-
-
DNA
MLPA, SEQ
-
-
cancer, breast
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Juul Wijnen
+/+
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Unknown
-
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
-?_80+?del
-
BRCA1_001184
-
-
-
-
Unknown
-
-
-
-
-
DNA
MLPA
-
-
cancer, breast
-
-
-
-
-
Belgium
-
-
-
-
-
1
Kathleen Claes
+/+
_1_2i
c.-232_(80+1_81-1){0}
r.spl?
p.?
-
Unknown
kConFab
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
del exons 1_2
-
BRCA1_001184
-
kConFab variant classification: P
-
-
Germline
-
2/1658
-
-
-
DNA
SEQ
-
-
cancer, breast
-
-
2 breast-ovarian cancer families (kConFab)
-
-
Australia;New Zealand
-
-
-
-
-
2
kConFab - Heather Thorne
+/.
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Parent #1
-
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
del exons 1 & 2
-
BRCA1_003033
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
-
-
1 family (BRCA1/2 screening)
-
-
Greece
-
-
-
-
-
1
Florentia Fostira
+/.
_1_2i
c.-232_(80+1_81-1){0}
r.?
p.?
-
Unknown
-
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
-
-
BRCA1_003033
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
cancer, breast
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Arjen Mensenkamp
+/.
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Parent #1
-
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
c.-232-?_80+?del
-
BRCA1_001184
-
Journal: Rebbeck 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
CIMBA-Fam?
Journal: Rebbeck 2018
1 family
F
-
Austria
white
-
-
-
-
1
Johan den Dunnen
+/.
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Parent #1
-
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
c.-232-?_80+?del
-
BRCA1_001184
-
Journal: Rebbeck 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
CIMBA-Fam?
Journal: Rebbeck 2018
1 family
F
-
Czech Republic
white
-
-
-
-
1
Johan den Dunnen
+/.
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Parent #1
-
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
c.-232-?_80+?del
-
BRCA1_001184
-
Journal: Rebbeck 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
CIMBA-Fam?
Journal: Rebbeck 2018
4 families
F
-
France
white
-
-
-
-
4
Johan den Dunnen
+/.
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Parent #1
-
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
c.-232-?_80+?del
-
BRCA1_001184
-
Journal: Rebbeck 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
CIMBA-Fam?
Journal: Rebbeck 2018
8 families
F
-
France
unknown
-
-
-
-
8
Johan den Dunnen
+/.
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Parent #1
-
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
c.-232-?_80+?del
-
BRCA1_001184
-
Journal: Rebbeck 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
CIMBA-Fam?
Journal: Rebbeck 2018
24 families
F
-
Germany
unknown
-
-
-
-
24
Johan den Dunnen
+/.
_1_2i
c.-232_(80+1_81-1){0}
r.0?
p.0?
-
Parent #1
-
pathogenic
g.(41267797_41276033)_(41277500_?)del
-
c.-232-?_80+?del
-
BRCA1_001184
-
Journal: Rebbeck 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
cancer, breast
CIMBA-Fam?
Journal: Rebbeck 2018
9 families
F
-
Italy
white
-
-
-
-
9
Johan den Dunnen
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
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Powered by
LOVD v.3.0
Build 28d
LOVD software ©2004-2023
Leiden University Medical Center