Variant #0000003188 (NC_000013.11:g.32340099C>T, BRCA2(NM_000059.3):c.5744C>T)

Individual ID 00000395
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 Gonzalo Tabares-CEMA
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     

Protein     

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Co_ocurrence     

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



Screenings


AscendingScreening ID     

Template     

Technique     

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Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000448 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (17 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2 25-oct-2017 Multigenetic panel - 5 Gonzalo Tabares-CEMA