Genomic variant #0000469115

Individual ID 00227765
Chromosome 13
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.32972626A>T
DNA change (hg38) -
Published as 9976A>T, 9976A>T
ISCN -
DB-ID BRCA2_000481 See all 78 reported entries
Variant remarks -
Reference PubMed: Bhaskaran 2019 - (refs 68, 69, 77, 80)
ClinVar ID -
dbSNP ID rs11571833
Origin Germline
Segregation -
Frequency 6/408 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00646 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000228853 DNA DHPLC - - BRCA2 1 Johan den Dunnen