Individual #00016375

Reference -
Gender F
Geographic origin Askri, Boeotia
Geographic origin Amarynthos, Evia
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000008428 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000099 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

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

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
3 Parent #2 -/- g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.78A>C, NM_033084.3:c.78A>C r.(?) p.(Gln26His)
5 Parent #2 -/- g.112173250G>A - APC_000010 rs72541809 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.1959G>A, NM_001127510.2:c.1959G>A, NM_001127511.2:c.1905G>A r.(=) p.(=)
6 Parent #2 ./. g.160833623T>C - chr6_000026 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ?/? g.104352293G>T - SUFU_000006 - - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.455-46G>T, NM_016169.3:c.455-46G>T r.(=) p.(=)
11 Parent #2 ?/? g.44117774G>A - EXT2_000007 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.-29G>A, NM_001178083.1:c.-31+372G>A, NM_207122.1:c.-31+372G>A r.(=) p.(=)
11 Parent #2 ?/? g.44117775C>G - EXT2_000005 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.-28C>G, NM_001178083.1:c.-31+373C>G, NM_207122.1:c.-31+373C>G r.(=) p.(=)
13 Parent #2 +/+ g.32950929G>A - BRCA2_000012 rs397508006 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8754+1G>A r.spl? p.?
16 Parent #2 ?/? g.2138135G>A - TSC2_000003 rs201206500 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5155G>A, NM_001077183.1:c.4954G>A, NM_001114382.1:c.5086G>A r.(?) p.(Ala1719Thr), p.(Ala1652Thr), p.(Ala1696Thr)
16 Parent #2 ?/? g.3640664C>T - SLX4_000017 rs139287784 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2975G>A r.(?) p.(Gly992Glu)
17 Parent #2 +?/+? g.7577091G>A Fostira et al (2020), Kato et al (2003), Monti et al (2011), Evans et al (2019), Jagosova et al (2012) TP53_000001  rs149633775 Low-risk allele Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.847C>T, NM_001126112.2:c.847C>T, NM_001126113.2:c.847C>T, NM_001126114.2:c.847C>T, NM_001126115.1:c.451C>T, NM_001126116.1:c.451C>T, NM_001126117.1:c.451C>T, NM_001126118.1:c.730C>T, NM_001276695.1:c.730C>T, NM_001276696.1:c.730C>T, NM_001276697.1:c.370C>T, NM_001276698.1:c.370C>T, NM_001276699.1:c.370C>T, NM_001276760.1:c.730C>T, NM_001276761.1:c.730C>T r.(?) p.(Arg283Cys), p.(Arg151Cys), p.(Arg124Cys), p.(Arg244Cys)
22 Parent #2 +?/+? g.29121087A>G - CHEK2_000007 rs17879961 Low risk allele Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.599T>C, NM_001257387.1:c.-308T>C, NM_007194.3:c.470T>C, NM_145862.2:c.470T>C r.(=), r.(?) p.(Ile200Thr), p.(=), p.(Ile157Thr)
Legend