Variant #0000005891 (NC_000013.11:g.32331060del, BRCA2(NM_000059.3):c.793+30del)

Individual ID 00000853
Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32331060del
Reference -
DB-ID BRCA2_000261
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital de Córdoba
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     

Zygosity     

Co_ocurrence     

Review status     
BRCA2 NM_000059.3 ?/-? 9i c.793+30del r.(=) p.(=) Homo no RECLASSIFIED JUNE 2019



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001008 DNA SEQ-NG Clinica Universitaria Reina Fabiola - 6-feb-2019 Specific pathology BRCA1, BRCA2 16 Claudia Martin-Hospital de Córdoba