Variant #0000026115 (NC_000013.10:g.32889769C>G, BRCA2(NM_000059.3):c.-75C>G)

Individual ID 00007193
Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.32889769C>G
DNA change (hg38) g.32315632C>G
Published as -
ISCN -
DB-ID BRCA2_001909 See all 4 reported entries
Variant remarks Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Juul Wijnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA2 NM_000059.3 ?/? 1 c.-75C>G r.-75c>g p.= -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000007107 DNA SEQ ? - BRCA1, BRCA2 1 Juul Wijnen