Variant #0000833892 (NC_000017.10:g.(?_41196312)_(41197820_41199659)del, BRCA1(NM_007294.3):c.(5467+1_5468-1)_*1383{0})

Individual ID 00399626
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_41196312)_(41197820_41199659)del
DNA change (hg38) -
Published as del ex24
ISCN -
DB-ID BRCA1_001694 See all 13 reported entries
Variant remarks -
Reference PubMed: Evans 2022
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 +/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000400869 DNA SEQ;SEQ-NG - gene panel - 1 Johan den Dunnen