Variant #0000008530 (NC_000013.11:g.32316511_32316512del, BRCA2(NM_000059.3):c.51_52del)

Individual ID 00001505
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32316511_32316512del
Reference -
DB-ID BRCA2_000210
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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     

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DNA change (cDNA)     

RNA change     

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Review status     
BRCA2 NM_000059.3 +/+ 2 c.51_52del r.(?) p.(Arg18Leufs*12) Hetero N/A -



Screenings


AscendingScreening ID     

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Technique     

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Variants found     

Owner     
0000001774 DNA CNV;SEQ-NG IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) 13-may-2020 Multigenetic panel - 28 Silvina Sisterna-Hospital de Comunidad