Variant #0000627499 (NC_000017.10:g.(?_41196312)_(41197820_41199659)del, BRCA1(NM_007294.3):c.(5467+1_5468-1)_*1383{0})

Individual ID 00272398
Chromosome 17
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification unclassified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_41196312)_(41197820_41199659)del
DNA change (hg38) -
Published as (5467+1_5468-1)_(?)del
ISCN -
DB-ID BRCA1_001694 See all 13 reported entries
Variant remarks classified as class 3, 4 or 5 in 1/25800 full screen tests: PHE release 2 BRCA germline variants (June 19, 2019). Entry from British diagnostic laboratories uploaded via Public Health England. Where benign/likely benign variants were excluded. Currently variants are classified as either "3, 4 or 5" or "1, 2, 3, 4 or 5".
Reference UK Variant Sharing Initiative
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency 1 case
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner UK Variant Sharing Initiative
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     
0000273552 DNA SEQ - - - 1 UK Variant Sharing Initiative