Variant #0000001977 (NC_000013.11:g.32340946_32340947del, NM_000059.3:c.6591_6592del (BRCA2))

Individual ID 00000414
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32340946_32340947del
Published as 6591_6592delTG
Reference Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0003), ClinVar
DB-ID BRCA2_000148
dbSNP ID rs80359605
Frequency 1/1726
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-02-16 16:34:09 +08:00 (CST)
Date last edited 2021-08-01 12:47:52 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BRCA2 NM_000059.3 +/. - c.6591_6592del 6591_6592delTG r.(?) p.(Glu2198Asnfs*4) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000431 DNA MLPA;SEQ-NG-I BRCA2 44 Nuur Athirah Binti Mohd Daud