Variant #0000792904 (NC_000013.10:g.32972980del, BRCA2(NM_000059.3):c.*73del)

Individual ID 00378561
Chromosome 13
Allele Parent #1
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.32972980del
DNA change (hg38) g.32398843del
Published as c.*71delA
ISCN -
DB-ID BRCA2_009267
Variant remarks -
Reference PubMed: Dong 2021
ClinVar ID -
dbSNP ID rs1566261757
Origin Germline
Segregation -
Frequency 1/11386 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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 ?/. - c.*73del r.(?) p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000379761 DNA SEQ;SEQ-NG saliva - - 1 Johan den Dunnen