Variant #0000073374 (NC_000017.10:g.41278342G>C, BRCA1(NM_007294.3):c.-1074C>G)

Individual ID 00045745
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method kConFab
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41278342G>C
DNA change (hg38) g.43126325G>C
Published as g.3565 C>G
ISCN -
DB-ID BRCA1_002939
Variant remarks -
Reference kConFab variant classification: PM
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 47/1658
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 -/- _1 c.-1074C>G r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000045850 DNA SEQ - - BRCA1 1 kConFab - Heather Thorne