Variant #0000009287 (NC_000013.11:g.32339706dup, BRCA2(NM_000059.3):c.5351dup)

Individual ID 00001930
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 Maria Constanza Vallone-Hospital Austral
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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BRCA2 NM_000059.3 +/+ 11 c.5351dup r.(5351dup) p.(Asn1784Lysfs*3) Hetero N/A -



Screenings


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Owner     
0000002217 DNA SEQ-NG Hospital Universitario Austral Panel (30 genes) BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2*, EPCAM*, APC, MUTYH, MITF*, BAP1, CDKN2A, CDK4*, TP53, PTEN, STK11, CDH1, BMPR1A, SMAD4, GREM1*, POLD1*, POLE*, PALB2, CHEK2, ATM, NBN, BARD1, BRIP1, RAD51C, RAD51D 19-jul-2021 Multigenetic panel - 1 Maria Constanza Vallone-Hospital Austral