Individual #00120646

ID_report BR0483
Reference -
Remarks -
Gender -
Consanguinity -
Country Argentina
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, breast
Owner name Angela Solano & F Cardoso


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000121132 DNA SEQ - - BRCA1, BRCA2 11 Angela Solano & F Cardoso



Variants

11 entries on 1 page. Showing entries 1 - 11.
Legend  

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     
13 Unknown -/- - benign g.32968810T>C g.32394673T>C - - BRCA2_000409 - - - rs11571818 Germline - 24/1900 cases - 0 - Angela Solano & F Cardoso BRCA2 - - - - - 24i NM_000059.3:c.9257-16T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
13 Unknown -/- - benign g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - Angela Solano & F Cardoso BRCA2 - - - - - 27 NM_000059.3:c.9976A>T - r.(?) p.(Lys3326*) - - - - - - - - - - - - - - - - - - - -
17 Unknown -/. - benign g.41223094T>C g.43071077T>C - - BRCA1_000338 - - - rs1799966 Germline - 806/1900 cases - 0 - Angela Solano & F Cardoso BRCA1 - - - - - 16 NM_007294.3:c.4837A>G - r.(?) p.(Ser1613Gly) - - - - - - - - - - - - - - - - - - - -
17 Unknown -/. - benign g.41226387C>T g.43074370C>T - - BRCA1_000328 - - - rs28897691 Germline - 2/1900 cases - 0 - Angela Solano & F Cardoso BRCA1 - - - - - 15 NM_007294.3:c.4636G>A - r.(?) p.(Asp1546Asn) - - - - - - - - - - - - - - - - - - - -
17 Unknown -/. - benign g.41234470A>G g.43082453A>G - - BRCA1_000309 - - - rs1060915 Germline - 811/1900 cases - 0 - Angela Solano & F Cardoso BRCA1 - - - - - 13 NM_007294.3:c.4308T>C - r.(?) p.(Ser1436=) - - - - - - - - - - - - - - - - - - - -
17 Unknown -/- - benign g.41244000T>C g.43091983T>C - - BRCA1_000262 - - - rs16942 Germline - 814/1900 cases - 0 - Angela Solano & F Cardoso BRCA1 - - - - - 11 NM_007294.3:c.3548A>G - r.(?) p.(Lys1183Arg) - - - - - - - - - - - - - - - - - - - -
17 Unknown -/- - benign g.41244435T>C g.43092418T>C - - BRCA1_000232 - - - rs16941 Germline - 810/1900 cases - 0 - Angela Solano & F Cardoso BRCA1 - - - - - 11 NM_007294.3:c.3113A>G - r.(?) p.(Glu3113Gly) - - - - - - - - - - - - - - - - - - - -
17 Unknown -/- - benign g.41244936G>A g.43092919G>A - - BRCA1_000213 - - - rs799917 Germline - 849/1900 cases - 0 - Angela Solano & F Cardoso BRCA1 - - - - - 11 NM_007294.3:c.2612C>T - r.(?) p.(Pro871Leu) - - - - - - - - - - - - - - - - - - - -
17 Unknown -/- - benign g.41245237A>G g.43093220A>G - - BRCA1_000194 - - - rs16940 Germline - 806/1900 cases - 0 - Angela Solano & F Cardoso BRCA1 - - - - - 11 NM_007294.3:c.2311T>C - r.(?) p.(Leu771=) - - - - - - - - - - - - - - - - - - - -
17 Unknown -/- - benign g.41245466G>A g.43093449G>A - - BRCA1_000183 - - - rs1799949 Germline - 814/1900 cases - 0 - Angela Solano & F Cardoso BRCA1 - - - - - 11 NM_007294.3:c.2082C>T - r.(?) p.(Ser694=) - - - - - - - - - - - - - - - - - - - -
17 Unknown -/- - benign g.41276247A>G g.43124230A>G - - BRCA1_002795 - - - rs3765640 Germline - 728/1900 cases - 0 - Angela Solano & F Cardoso BRCA1 - - - - - 1i NM_007294.3:c.-19-115T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
Legend