Variant #0000007099 (NC_000002.12:g.214780740C>G, BARD1(NM_000465.3):c.1134G>C)

Individual ID 00001276
Chromosome 2
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.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 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     

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DNA change (cDNA)     

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RNA change     

Review status     
BARD1 NM_000465.3 -/- 4 c.1134G>C p.(Arg378Ser) Not specified no r.(?) RECLASSIFIED JULY 2020



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001515 DNA CNV;SEQ-NG IACA Panel (ATM, BRCA1, BRCA2, BARD1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, STK11, TP53) 6-dec-2019 Multigenetic panel - 32 Silvina Sisterna-Hospital de Comunidad