Variant #0000002210 (NC_000013.11:g.32357755G>A, NM_000059.3:c.7631G>A (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.32357755G>A
Published as -
Reference Wei Xiong Wen et al. (2018), dbSNP, ClinVar
DB-ID BRCA2_000164
dbSNP ID rs397507926
Frequency 2/490
Variant remarks VUS (variants of unknown significance)
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 2021-02-25 15:59:13 +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.7631G>A - r.(?) p.(Gly2544Asp) missense Uncertain significance​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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