Variant #0000073935 (NC_000017.10:g.(41267797_41276033)_(41277500_?)del, BRCA1(NM_007294.3):c.(?_-232)_(80+1_81-1)del)

Individual ID 00046306
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method kConFab
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(41267797_41276033)_(41277500_?)del
DNA change (hg38) -
Published as del exons 1_2
ISCN -
DB-ID BRCA1_001184 See all 27 reported entries
Variant remarks -
Reference kConFab variant classification: P
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/1658
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner kConFab - Heather Thorne
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 +/+ _1_2i c.(?_-232)_(80+1_81-1)del r.spl? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000046411 DNA SEQ - - BRCA1 1 kConFab - Heather Thorne