Variant #0000643127 (NC_000013.10:g.32913608_32913611del, BRCA2(NM_000059.3):c.5116_5119del)

Individual ID 00286179
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.32913608_32913611del
DNA change (hg38) g.32339471_32339474del
Published as 5116_5119delAATA
ISCN -
DB-ID BRCA2_007549
Variant remarks -
Reference Benani Mechita 2020, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Mohcine Bennani
Database submission license No license selected
Created by Mohcine Bennani
Date created 2020-02-09 23:02:27 +01:00 (CET)
Date last edited 2020-02-10 21:47:57 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA2 NM_000059.3 +/. 11 c.5116_5119del r.(?) p.(Asn1706Leufs*5) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000287340 DNA SEQ-NG-IT - - BRCA1, BRCA2 1 Mohcine Bennani