Variant #0000007431 (NC_000013.11:g.32340099C>T, BRCA2(NM_000059.3):c.5744C>T)

Individual ID 00001285
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.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     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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Co_ocurrence     

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



Screenings


AscendingScreening ID     

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Technique     

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Date of test     

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Variants found     

Owner     
0000001524 DNA CNV;SEQ-NG IACA CNV test of BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53. 2-aug-2018 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 32 Silvina Sisterna-Hospital de Comunidad