Genomic variant #0000193740

Chromosome 13
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32972626A>T
DNA change (hg38) g.32398489A>T
Published as -
ISCN -
DB-ID BRCA2_000481 See all 78 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 = 0.00000000204. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.01055 (European), 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 (large NGS studies) 0.00646 View details
Owner ENIGMA consortium




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

Haplotype     
BRCA2 NM_000059.3 -/- 27 c.9976A>T r.(?) p.(Lys3326*) benign -