Variant #0000009564 (NC_000013.11:g.32339706dup, BRCA2(NM_000059.3):c.5351dup)

Individual ID 00002354
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32339706dup
Reference -
DB-ID BRCA2_000162 See all 19 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

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Co_ocurrence     

Review status     
BRCA2 NM_000059.3 +/+ 11 c.5351dup r.(5351dup) p.(Asn1784Lysfs*3) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002602 DNA SEQ-NG BIOMAKERS Molecular Pathology & Research BRCA1 Y BRCA2 germinal 07-03-23 Specific pathology BRCA1, BRCA2 1 Silvina Sisterna-Hospital de Comunidad