Variant #0000631899 (NC_000017.10:g.(41251898_41256138)_(41258551_41267742)del, BRCA1(NM_007294.3):c.(134+1_135-1)_(441+1_442_1)del)

Individual ID 00276009
Chromosome 17
Allele Parent #1
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.(41251898_41256138)_(41258551_41267742)del
DNA change (hg38) -
Published as LRG_292:g.(111450_113863)del
ISCN -
DB-ID BRCA1_001700 See all 11 reported entries
Variant remarks -
Reference Van Der Merwe 2020, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/744 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nerina Chrisna van der Merwe
Database submission license No license selected
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 +/. 4i_7i c.(134+1_135-1)_(441+1_442_1)del r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000277157 DNA MLPA - - BRCA1 1 Nerina Chrisna van der Merwe