Variant #0000002012 (NC_000013.11:g.32338035_32338036del, NM_000059.3:c.3680_3681del (BRCA2))

Individual ID 00000426
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32338035_32338036del
Published as 3680_3681delTG
Reference Wei Xiong Wen et al. (2018), dbSNP, ClinVar
DB-ID BRCA2_000159
dbSNP ID rs80359395
Frequency 1/490
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 2021-02-17 16:00:00 +08:00 (CST)
Date last edited 2021-08-01 12:53:47 +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.3680_3681del 3680_3681delTG r.(?) p.(Leu1227Glnfs*5) frameshift Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000455 DNA MLPA;SEQ-NG-I BRCA2 13 Nuur Athirah Binti Mohd Daud