Variant #0000001952 (NC_000013.11:g.32337163_32337166del, NM_000059.3:c.2808_2811del (BRCA2))

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.32337163_32337166del
Published as 2808_2811delACAA
Reference Wei Xiong Wen et al. (2018), dbSNP, ClinVar
DB-ID BRCA2_000068 See all 4 reported entries
dbSNP ID rs80359351
Frequency 2/1726
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
Date created 2021-02-16 10:41:03 +08:00 (CST)
Date last edited 2021-08-01 12:47:52 +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.2808_2811del 2808_2811delACAA r.(?) p.(Ala938Profs*21) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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