Variant #0000008440 (NC_000013.11:g.32340099C>T, BRCA2(NM_000059.3):c.5744C>T)

Individual ID 00001499
Chromosome 13
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.32340099C>T
Reference -
DB-ID BRCA2_000056 See all 25 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     

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DNA change (cDNA)     

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Review status     
BRCA2 NM_000059.3 ./- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001768 DNA CNV;SEQ-NG IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) 15-jul-2020 Multigenetic panel - 44 Silvina Sisterna-Hospital de Comunidad