Individual #00324476

ID_report 173306
Reference -
Remarks -
Gender F
Consanguinity ?
Country Germany
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases BROVCA2
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2020-12-14 16:39:11 +01:00 (CET)
Date last edited 2020-12-14 17:36:47 +01:00 (CET)


Phenotypes

cancer, breast-ovarian, familial, susceptibility to, type 2 (BROVCA-2) (BROVCA2)   Add phenotype for this disease

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Owner     
0000243019 (+) Breast carcinoma,(+) Neoplasm of the breast,(+) Ovarian neoplasm,(+) Ovarian carcinoma / German S3 indication criteria met, patient with breast carcinoma ED 57 yrs, breast carcinoma in sister ED 56 yrs, breast carcinoma in mother ED 55 yrs. 57y - Familial, autosomal dominant - - - - - Andreas Laner



Screenings


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Owner     
0000325667 DNA SEQ-NG-I - - BRCA2 1 Andreas Laner



Variants

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Protein level     
13 Unknown +/. ACMG pathogenic (dominant) g.32912776dup g.32338639dup - - BRCA2_001668 ACMG: PVS1, PS4, PM2: class 5 - ClinVar-0000378921 - Germline ? - - - - Andreas Laner BRCA2 - - - - 11 NM_000059.3:c.4284dup - r.(?) p.(Gln1429Serfs*9) - - - - - - - - - - - - - -
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