Variant #0000191072 (NC_000017.10:g.41279529A>G, BRCA1(NM_007294.3):c.-2261T>C)

Chromosome 17
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41279529A>G
DNA change (hg38) g.43127512A>G
Published as -
ISCN -
DB-ID BRCA1_004596
Variant remarks Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02 (African), derived from 1000 genomes (2012-04-30).
Reference ENIGMA classification criteria
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner ENIGMA consortium
Database submission license No license selected
Created by ENIGMA consortium
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 -/- _1 c.-2261T>C r.(?) p.(=) -
NBR2 NR_003108.1 ./. - n.188+1742A>G r.(?) - -