Variant #0000009521 (NC_000013.11:g.5001_5188del, BRCA2(NM_000059.3):c.-227_-40del)

Individual ID 00002054
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.5001_5188del
Reference -
DB-ID BRCA2_000262
dbSNP ID -
Variant remarks Deletion exon 1
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan - Consultorio Particular.
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 +/+ 1 c.-227_-40del r.? p.? Hetero N/A -



Screenings


AscendingScreening ID     

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Owner     
0000002341 DNA SEQ-NG IACA Panel HRR de AmoyDx (32 genes) AR, ATM, ATR, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CHEK1, CHEK2, ESR1, FANCA, FANCL, HDAC2, HOXB13, MRE11, NBN, PALB2, PPP2R2A, PTEN, RAD51B, RAD51C, RAD51D, RAD54L, STK11, TP53, BRAF, ERBB2, KRAS, NRAS, PIK3CA 30-nov-2021 Multigenetic panel - 2 Pablo Kalfayan - Consultorio Particular.