Individual #00001048

Ethnic origin Spanish-Italian
Reference -
Remarks -
Cuadro familiar Breast cancer, Prostate cancer
Panel size 1
Diseases Breast cancer
Owner name Claudia Martin-Hospital de Córdoba
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001254 DNA SEQ-NG CEMIC - 4-aug-2019 Multigenetic panel ATM, BRCA1, BRCA2, CHEK2, NBN, PALB2, PTEN, TP53 15 Claudia Martin-Hospital de Córdoba



Variants

15 entries on 1 page. Showing entries 1 - 15.
Legend   How to query  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
11 Unknown -/-? g.108304735G>A - ATM_000006 - - Claudia Martin-Hospital de Córdoba ATM 37 NM_000051.3:c.5557G>A p.(Asp1853Asn) Hetero BRCA2 r.(?) -
13 Unknown +/+ g.32316435G>A - BRCA2_000020 - - Claudia Martin-Hospital de Córdoba BRCA2 5'UTR NM_000059.3:c.-26G>A p.(=) Hetero BRCA2 r.(=) -
13 Unknown -/- g.32332592A>C - BRCA2_000190 - - Claudia Martin-Hospital de Córdoba BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Hetero BRCA2 r.(?) -
13 Unknown +/+ g.32337012del - BRCA2_000189 - - Claudia Martin-Hospital de Córdoba BRCA2 11 NM_000059.3:c.2657del p.(Asn886Metfs*9) Hetero N/A r.(?) -
13 Unknown -/- g.32337751A>G - BRCA2_000021 - - Claudia Martin-Hospital de Córdoba BRCA2 11 NM_000059.3:c.3396A>G p.(=) Hetero BRCA2 r.(=) -
13 Unknown -/- g.32355095A>G - BRCA2_000026 - - Claudia Martin-Hospital de Córdoba BRCA2 14 NM_000059.3:c.7242A>G p.(=) Hetero BRCA2 r.(=) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Claudia Martin-Hospital de Córdoba BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Hetero BRCA2 r.(=) -
13 Unknown -/- g.32394673T>C - BRCA2_000032 - - Claudia Martin-Hospital de Córdoba BRCA2 24i NM_000059.3:c.9257-16T>C p.(=) Hetero BRCA2 r.(=) -
13 Unknown ?/? g.32396977C>G - BRCA2_000191 - - Claudia Martin-Hospital de Córdoba BRCA2 26 NM_000059.3:c.9581C>G p.(Pro3194Arg) Hetero BRCA2 r.(?) -
13 Unknown -/- g.32398489A>T - BRCA2_000033 - - Claudia Martin-Hospital de Córdoba BRCA2 27 NM_000059.3:c.9976A>T p.(Lys3326*) Hetero BRCA2 r.(?) -
16 Unknown -/-? g.23607914A>C - PALB2_000005 - - Claudia Martin-Hospital de Córdoba PALB2 12 NM_024675.3:c.3300T>G p.(=) Hetero BRCA2 r.(=) -
16 Unknown -/-? g.23622972C>T - PALB2_000008 - - Claudia Martin-Hospital de Córdoba PALB2 9 NM_024675.3:c.2993G>A p.(Gly998Glu) Hetero BRCA2 r.(?) -
16 Unknown -/-? g.23630140C>G - PALB2_000006 - - Claudia Martin-Hospital de Córdoba PALB2 5 NM_024675.3:c.2014G>C p.(Glu672Gln) Hetero BRCA2 r.(?) -
16 Unknown -/- g.23634870T>C - PALB2_000004 - - Claudia Martin-Hospital de Córdoba PALB2 4 NM_024675.3:c.1676A>G p.(Gln559Arg) Hetero BRCA2 r.(?) -
17 Unknown -/- g.7676154G>C - TP53_000001 - - Claudia Martin-Hospital de Córdoba TP53 4 NM_000546.5:c.215C>G p.(Pro72Arg) Hetero BRCA2 r.(?) -
Legend   How to query