Variant #0000005570 (NC_000013.11:g.32339706dup, BRCA2(NM_000059.3):c.5351dup)

Individual ID 00000777
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 Florencia Petracchi-CEMIC
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_000059.3 +/+ 11 c.5351dup r.(?) p.(Asn1784Lysfs*3) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000902 DNA SEQ-NG Centogene - 31-jan-2018 Specific pathology panel BRCA1, BRCA2 1 Florencia Petracchi-CEMIC