Variant #0000009981 (NC_000017.11:g.61857073A>C, BRIP1(NM_032043.2):c.364T>G)

Individual ID 00002888
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.61857073A>C
Reference -
DB-ID BRIP1_000029
dbSNP ID rs1555617788
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Guillermo Alberto-Instituto Fleming
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     
BRIP1 NM_032043.2 ?/? 4 c.364T>G (p.Ser122Ala) Hetero no r.? -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000003201 DNA SEQ-NG COLOR Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 14-mar-2024 Multigenetic panel - 1 Guillermo Alberto-Instituto Fleming