Variant #0000002033 (NC_000013.11:g.32338220_32338223del, NM_000059.3:c.3865_3868del (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.32338220_32338223del
Published as 3865_3868delAAAT
Reference Wei Xiong Wen et al. (2018), dbSNP, ClinVar
DB-ID BRCA2_000104 See all 2 reported entries
dbSNP ID rs80359412
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 14:37:08 +08:00 (CST)
Date last edited 2021-08-01 12:58:02 +08:00 (CST)
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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.3865_3868del 3865_3868delAAAT r.(?) p.(Lys1289Alafs*3) 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