Variant #0000409828 (NC_000013.10:g.32889564del, BRCA2(NM_000059.3):c.-280del)

Individual ID 00184000
Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.32889564del
DNA change (hg38) g.32315427del
Published as -
ISCN -
DB-ID BRCA2_006631 See all 2 reported entries
Variant remarks not in 442 controls
Reference PubMed: Burke 2018, Journal: Burke 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/6603 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Lez J Burke
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA2 NM_000059.3 ?/. _1 c.-280del r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184967 DNA SEQ - promoter/5'UTR BRCA2 1 Lez J Burke