Variant #0000009120 (NC_000013.11:g.32340437_32340441del, BRCA2(NM_000059.3):c.6082_6086del)

Individual ID 00001793
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32340437_32340441del
Reference -
DB-ID BRCA2_000208 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laura Vargas Roig-IMBECU
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     

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Review status     
BRCA2 NM_000059.3 +/+ 11 c.6082_6086del r.(?) p.(Glu2028Lysfs*19) Hetero N/A -



Screenings


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Owner     
0000002078 DNA SEQ-NG Biogenotec Panel Multigénico (21 genes) APC, ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN,NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 10-oct-2019 Multigenetic panel - 4 Laura Vargas Roig-IMBECU