Variant #0000007213 (NC_000002.12:g.214767531C>T, BARD1(NM_000465.3):c.1519G>A)

Individual ID 00001281
Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.214767531C>T
Reference -
DB-ID BARD1_000010 See all 8 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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RNA change     

Review status     
BARD1 NM_000465.3 -?/-? 6 c.1519G>A p.(Val507Met) Not specified no r.(?) -



Screenings


AscendingScreening ID     

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Owner     
0000001520 DNA CNV;SEQ-NG IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) 10-jan-2020 Multigenetic panel - 36 Silvina Sisterna-Hospital de Comunidad