Variant #0000668611 (NC_000017.10:g.(41243050_41243451)_(41277500_?)del, BRCA1(NM_007294.3):c.-232_(4096+1_4097-1){0})

Individual ID 00303933
Chromosome 17
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.(41243050_41243451)_(41277500_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID BRCA1_004992 See all 2 reported entries
Variant remarks -
Reference PubMed: Santonocito 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/2351 cases
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     
BRCA1 NM_007294.3 +/. _1_11i c.-232_(4096+1_4097-1){0} r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000305060 DNA SEQ-NG - BRCA1/2 sequencing BRCA1, BRCA2 2 Johan den Dunnen