Variant #0000000951 (NC_000002.12:g.214780740C>G, BARD1(NM_000465.3):c.1134G>C)

Individual ID 00000100
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.214780740C>G
Reference -
DB-ID BARD1_000002 See all 16 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
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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Review status     
BARD1 NM_000465.3 -/-? 4 c.1134G>C p.(Arg378Ser) Hetero no r.(?) RECLASSIFIED JUNE 2019



Screenings


AscendingScreening ID     

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Owner     
0000000109 DNA SEQ-NG Dasa Genómica - Genia;INVITAE Invitae Breast Cancer Panel 20-apr-2017 Multigenetic panel ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, NBN, NF1, PALB2, PTEN, RAD50, STK11, TP53 20 Lina Nuñez-Private Practice