Variant #0000002037 (NC_000013.11:g.32340082_32340083insG, NM_000059.3:c.5727_5728insG (BRCA2))

Individual ID 00000431
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32340082_32340083insG
Published as -
Reference Wei Xiong Wen et al. (2018), dbSNP, ClinVar
DB-ID BRCA2_000168
dbSNP ID rs1593906350
Frequency 1/359
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 2021-02-18 14:49:37 +08:00 (CST)
Date last edited 2021-08-01 12:58:02 +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.5727_5728insG - r.(?) p.(Asn1910Glufs*2) frameshift Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000463 DNA MLPA;SEQ-NG-I BRCA2 14 Nuur Athirah Binti Mohd Daud