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 = 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
• Unknown
• Not available

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
• BRIP1
• CDKN1B
• FANCD2
• MLH1, MUTYH
• EPCAM
• WRN
• FANCM
• DIS3L2
• RAD51C
• ERCC2
• MSH3

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

Review status: prueba

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.

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.

Template: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:

• DNA
• RNA = RNA (cDNA)
• Protein
• ? = unknown

Technique: Technique(s) used to identify the sequence variant.
All options:

• ? = Unknown
• SEQ-NG = Next-Generation Sequencing
• SEQ = SEQuencing
• MLPA = Multiplex Ligation-dependent Probe Amplification
• SEQ-NG-H = Next-Generation Sequencing - Helicos
• SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
• SEQ-NG-R = Next-Generation Sequencing - Roche/454
• SEQ-NG-S = Next-Generation Sequencing - SOLiD
• 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)
• BESS = Base Excision Sequence Scanning
• CMC = Chemical Mismatch Cleavage
• CNV
• CSCE = Conformation Sensitive Capillary Electrophoresis
• DECoN = Detection of Exon Copy Number variants
• DGGE = Denaturing-Gradient Gel-Electrophoresis
• DHPLC = Denaturing High-Performance Liquid Chromatography
• DOVAM = Detection Of Virtually All Mutations (SSCA variant)
• ddF = dideoxy Fingerprinting
• DSCA = Double-Strand DNA Conformation Analysis
• EMC = Enzymatic Mismatch Cleavage
• HD = HeteroDuplex analysis
• MCA = high-resolution Melting Curve Analysis (hrMCA)
• IHC = Immuno-Histo-Chemistry
• MAPH = Multiplex Amplifiable Probe Hybridisation
• Northern = Northern blotting
• PCR = Polymerase Chain Reaction
• PCRdig = PCR + restriction enzyme digestion
• PCRlr = PCR, long-range
• PCRm = PCR, multiplex
• PCRq = PCR, quantitative
• PAGE = Poly-Acrylamide Gel-Electrophoresis
• PTT = Protein Truncation Test
• PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
• RT-PCR = Reverse Transcription and PCR
• SBE = Single Base Extension
• SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
• SSCAf = SSCA, fluorescent (SSCP)
• Southern = Southern blotting
• TaqMan = TaqMan assay
• Western = Western Blotting
• in-house algorithm for CNV
• z-score-CNV = z-score based algorithm for CNV detection in targeted NGS

Date of test: Date in which the results of the test were informed to the pacient

Lab: Name of the Laboratory that performed the screening.
All options:

• 3 billion
• ARGENETICS
• ARGENOMICS - Fundacion Investigar
• Bilac - Laboratorio De Alta Complejidad
• Biocodices S.A.
• Biogenotec
• Biogenomic
• BIOMAKERS Molecular Pathology & Research
• Bionet
• Centro de Diagnostico Molecular (CDM)
• Centro de Educación Médica e Investigaciones Clínicas (CEMIC)
• Centro de Estudios Geneticos (CEG)
• Centro de Investigaciones Endocrinologicas “Dr. Cesar Bergada” (CEDIE)
• Centro Nacional de Genetica Medica "Dr. Eduardo E. Castilla" (CENAGEM)
• Centro Privado Internacional de Medicina Personalizada - CEPIMP Genomics
• CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS
• CITOGEN.LAB
• Clínica Universitaria Reina Fabiola
• Dasa Genómica - Genia
• Diagnus Lab
• Domeq&Lafage
• Fundacion BIOGEN
• Fundación para el Progreso de la Medicina
• FUNDAGEN S.A.
• Gammalab - Grupo Gamma S.A.
• GENDA
• GENERIS
• Genesia - Progenitest
• Genologica laboratorio de análisis genéticos
• GENOS
• Grupo de investigacion en Genetica Aplicada (GIGA)
• Hospital Alemán
• Hospital de Alta Complejidad El Calafate - SAMIC
• Hospital de Gastroenterología Dr. Carlos Bonorino Udaondo
• Hospital Italiano de Buenos Aires
• Hospital Privado Centro Médico de Córdoba
• Hospital Universitario Austral
• IACA Laboratorios
• IBC Laboratorios
• IMBECU
• Instituto Alexander Fleming
• Laboratorio Barros
• Laboratorio de Analisis Clinicos Saguir Correa
• Laboratorio de Biologia Celular y Molecular IHEM-CONICET CCT Mendoza
• Laboratorio de Medicina Genomica - Facultad de Medicina - UNNE
• Laboratorio Central
• Laboratorio Dr. Rapela
• Laboratorio Dra. Marta Cortelezzi
• Laboratorio Fares Taie
• Laboratorio Flores
• Laboratorio Hidalgo S.A.
• Laboratorio High Medic Group S.A.
• Laboratorio Integral SRL
• Laboratorio Maipu
• Laboratorio Motter
• Laboratorio NANNI
• Laboratorio PampaGEN
• Laboratorio Primagen
• Laboratorio Tucumán
• Laboratorios Turner
• Labsis
• LACE Laboratorios
• LEB (Laboratorio de Especialidades Bioquimicas)
• MANLAB
• MEDgenomica
• PRICAI-Primer Centro Argentino de Inmunogenética-Fundación Favaloro
• Sanatorio Allende
• Stamboulian Laboratorio
• STEM
• TRILAB
• VZ Laboratorios
• Zoigen
• AMBRY GENETICS
• Baylor Genetics
• Blueprint Genetics
• CENTOGENE
• COLOR
• GENE ONE
• Health in code
• Iden Gene
• IMEGEN
• INVITAE
• Laboratorio ATGen (E)
• Laboratorio ATGen
• MACROGEN
• Myriad Genetics
• SENTIS
• Sistemas Genómicos
• ------
• Color
• Genda
• Genda/Color
• Genesia
• Genesia/Invitae
• Genia/Invitae
• Genia/Color
• Genia
• Genos
• Genos/Color
• Hospital Privado Centro Médico de Córdoba
• Hospital Privado Centro médico de Córdoba/IACA
• Héritas
• IACA
• Invitae
• AbaCid
• Ambry Genetics
• Alexander Fleming
• Alexander Fleming/Baylor College
• Alexander Fleming/Genesia-INVITAE
• Argenomics
• Baylor Genetics
• BIOGEN
• Biogenotec
• BIOMAKERS Molecular Pathology & Research
• BIONET
• Blueprint Genetics
• CEDIE
• CEG
• CEMIC
• Centro de diagnóstico molecular
• CEPIMP Genomics
• CeNaGeM
• Centogene
• CIBIC
• CIBIC/Héritas
• Ciscato&Sharovsky
• Clinica Universitaria Reina Fabiola
• DIAGNUS LAB
• Domeq&Lafage
• Dr. Rapela
• Fares Taie
• FARESTAIE/Héritas
• FAVALORO-PRICAI
• Fundación para el Progreso de la Medicina
• Fundación para el Progreso de la Medicina/CIBIC/Héritas
• Fundagen
• Gammalab
• GeneDx
• GIGA
• Health in code
• Hidalgo
• High Medic Group
• Hospital Alemán
• Hospital de Gastroenterologia
• Sanatorio Allende
• MEDgenomica
• LACE
• HEMA
• Centro médico de Córdoba
• DASA-INVITAE
• Bioscreen Rosario
• x
• Myriad
• Cibic
• Turner
• Stamboulian
• IdenGene
• Reference Laboratory Genetics
• Macrogen
• Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
• IHEM-CONICET CCT Mendoza
• Labgenetics (deriv. Pricai)
• Invitae (deriv. Genesia)
• Genia (deriv. Hospital Italiano)
• Invitae (deriv. Genia)
• Color (deriv. Genos)
• Centogene (deriv. Progenitest)
• Gammalab (deriv. Hospital Universitario Austral)
• Color (deriv. Genda)
• Color (deriv. Genesia)
• Invitae (deriv. Genda)
• Laboratorio Integral S.R.L.
• Trinidad Medical Center
• LABORATORIO DRA. CORTELEZZI MARTA
• Dasa Genómica

Remarks: Remarks

Type of test: Type of test
All options:

• Known familial mutation
• Multigenetic panel
• Specific pathology
• Ashkenazi panel
• Germline variant found in somatic testing
• Whole exome
• -
• Specific pathology panel

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Remarks: Remarks about the individual.

Cuadro familiar: Principales canceres que motivan la sospecha clinica

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.