Genomic variant #0000222166

Individual ID 00000033
Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
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 10204A>T (K3326X)
ISCN -
DB-ID BRCA2_000481 See all 78 reported entries
Variant remarks -
Reference PubMed: Torres 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/53 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 ?/- 27 c.9976A>T r.(?) p.(Lys3326*) VUS -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000033 DNA SEQ-NG - - ATP7B, CDH23, CYP21A2, DPYD, ETFB, GAA, HADHA, HESX1, NHLRC1, PHEX, SERPINA1, USH2A 13 LOVD-team, but with Curator vacancy