Individual #00272265

ID_report -
Reference UK Variant Sharing Initiative
Remarks analysis breast/ovarian cancer cases
Gender -
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases BROVCA
Owner name UK Variant Sharing Initiative
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000273419 DNA SEQ - - - 1 UK Variant Sharing Initiative



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
17 Parent #1 ?/. - unclassified g.41267802A>G g.43115785A>G - - BRCA1_000023 classified as class 3, 4 or 5 in 2/25800 full screen tests: PHE release 2 BRCA germline variants (June 19, 2019). Entry from British diagnostic laboratories uploaded via Public Health England. Where benign/likely benign variants were excluded. Currently variants are classified as either "3, 4 or 5" or "1, 2, 3, 4 or 5". UK Variant Sharing Initiative - - CLASSIFICATION record - 2 cases - 0 - UK Variant Sharing Initiative BRCA1 - - - - - - NM_007294.3:c.81-6T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
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