Variant #0000190978 (NC_000017.10:g.41267809G>C, BRCA1(NM_007294.3):c.81-13C>G)

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.41267809G>C
DNA change (hg38) g.43115792G>C
Published as -
ISCN -
DB-ID BRCA1_000020 See all 13 reported entries
Variant remarks IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.000301. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.0122 (African), derived from 1000 genomes (2012-04-30).
Reference ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00018 View details
Owner ENIGMA consortium
Database submission license No license selected
Created by ENIGMA consortium
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 -/- 2i c.81-13C>G r.(?) p.(=) -