Variant #0000009719 (NC_000013.11:g.32332380A>G, BRCA2(NM_000059.4):c.902A>G)

Individual ID 00002577
Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.32332380A>G
Reference -
DB-ID BRCA2_000271
dbSNP ID rs730881508
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Cecilia Montes-IMGO
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_000059.4 ?/? 10 c.902A>G r.(902a>g) p.(Asp301Gly) Hetero BRCA1 -



Screenings


AscendingScreening ID     

Template     

Technique     

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Genes screened     

Variants found     

Owner     
0000002875 DNA SEQ-NG;CNV Fundación para el Progreso de la Medicina Breast and ovarian cancer panel (28 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1,CDK4,CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1,POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. 07-11-22 Multigenetic panel - 2 Cecilia Montes-IMGO