Variant #0000001962 (NC_000013.11:g.32338312_32338313del, BRCA2(NM_000059.3):c.3957_3958del)

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.32338312_32338313del
Published as 3957_3958delTG
Reference Wei Xiong Wen et al. (2018), dbSNP, ClinVar
DB-ID BRCA2_000105 See all 2 reported entries
dbSNP ID rs886040504
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
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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.3957_3958del 3957_3958delTG r.(?) p.(Asn1319Lysfs*3) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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