Variant #0000011910 (NC_000013.11:g.32340841_32340844del, BRCA2(NM_000059.4):c.6486_6489del)

Individual ID 00005581
Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.32340841_32340844del
Reference -
DB-ID chr13_000016
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Guillermo Alberto-Instituto Fleming
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
BRCA2 NM_000059.4 ?/? 11 c.6486_6489del r.(?) p.(Lys2162Asnfs*5) Hetero no -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000009773 DNA SEQ-NG;CNV GENDA GENDA Hereditary Cancer Panel - 88 genes - ABRAXAS1, AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FANCC, FH, FLCN, GALNT12, GREM1, HNF1B, HOXB13, K x Multigenetic panel - 1 Guillermo Alberto-Instituto Fleming

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