Variant #0000009340 (NC_000013.11:g.32339706dup, BRCA2(NM_000059.3):c.5351dup)

Individual ID 00002003
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 Cecilia Montes-IMGO
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.5351dup r.(5351dup) p.(Asn1784Lysfs*3) Hetero N/A -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000002290 DNA SEQ-NG LACE Panel de (30 genes) APC, ATM, BAP1,BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 04-aug-2021 Multigenetic panel - 2 Cecilia Montes-IMGO