Variant #0000007886 (NC_000013.11:g.32333388G>A, BRCA2(NM_000059.3):c.1909+1G>A)

Individual ID 00001382
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32333388G>A
Reference -
DB-ID BRCA2_000163 See all 3 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital de Córdoba
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     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     
BRCA2 NM_000059.3 +/+ 10i c.1909+1G>A r.spl? p.? Hetero N/A RECLASSIFIED AUGUST 2020



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001631 DNA SEQ Hospital Privado Centro Médico de Córdoba - 17-jan-2020 Known familial mutation BRCA2 1 Claudia Martin-Hospital de Córdoba