Variant #0000007204 (NC_000013.11:g.32355250T>C, BRCA2(NM_000059.3):c.7397T>C)

Individual ID 00001280
Chromosome 13
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32355250T>C
Reference -
DB-ID BRCA2_000012 See all 139 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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Review status     
BRCA2 NM_000059.3 -/- 14 c.7397T>C r.(?) p.(Val2466Ala) Homo no -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001519 DNA CNV;SEQ-NG IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53) 28-mar-2018 Multigenetic panel - 28 Silvina Sisterna-Hospital de Comunidad