Variant #0000193868 (NC_000013.10:g.32930748T>G, BRCA2(NM_000059.3):c.7617+2T>G)

Individual ID 00117452
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.32930748T>G
DNA change (hg38) g.32356611T>G
Published as c.7617+2T>G
ISCN -
DB-ID BRCA2_000215 See all 22 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Annemarie H van der Hout
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA2 NM_000059.3 +/. i15 c.7617+2T>G r.spl? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117917 DNA SEQ-NG - - BRCA2 1 Annemarie H van der Hout