Individual #00000847

Ethnic origin Portuguese
Reference -
Remarks -
Cuadro familiar Ovarian cancer
Panel size 1
Diseases Bilateral ovarian 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     

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Type of test     

Genes screened     

Variants found     

Owner     
0000001002 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba - 16-jan-2018 Specific pathology BRCA1, BRCA2 18 Claudia Martin-Hospital de Córdoba



Variants

18 entries on 1 page. Showing entries 1 - 18.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

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DNA change (cDNA)     

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RNA change     

Review status     
13 Unknown -/- g.32316435G>A - BRCA2_000020 - - Claudia Martin-Hospital de Córdoba BRCA2 5'UTR NM_000059.3:c.-26G>A p.(=) Hetero BRCA1 r.(=) -
13 Unknown -/- g.32326796T>A - BRCA2_000041 - - Claudia Martin-Hospital de Córdoba BRCA2 7i NM_000059.3:c.631+183T>A p.(=) Hetero BRCA1 r.(=) -
13 Unknown -/- g.32331128G>A - BRCA2_000042 - - Claudia Martin-Hospital de Córdoba BRCA2 9i NM_000059.3:c.793+98G>A p.(=) Homo BRCA1 r.(=) -
13 Unknown -/- g.32332592A>C - BRCA2_000007 - - Claudia Martin-Hospital de Córdoba BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Hetero BRCA1 r.(?) -
13 Unknown -/- g.32337751A>G - BRCA2_000021 - - Claudia Martin-Hospital de Córdoba BRCA2 11 NM_000059.3:c.3396A>G p.(=) Hetero BRCA1 r.(=) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 - - Claudia Martin-Hospital de Córdoba BRCA2 11 NM_000059.3:c.4563A>G p.(=) Homo BRCA1 r.(=) -
13 Unknown -/- g.32340868G>C - BRCA2_000036 - - Claudia Martin-Hospital de Córdoba BRCA2 11 NM_000059.3:c.6513G>C p.(=) Homo BRCA1 r.(=) -
13 Unknown -/- g.32341276_32341279delTTAA - BRCA2_000002 - - Claudia Martin-Hospital de Córdoba BRCA2 11i NM_000059.3:c.6841+80_6841+83delTTAA p.(=) Hetero BRCA1 r.(=) -
13 Unknown -/- g.32341387C>A - BRCA2_000043 - - Claudia Martin-Hospital de Córdoba BRCA2 11i NM_000059.3:c.6841+191C>A p.(=) Hetero BRCA1 r.(=) -
13 Unknown -/- g.32355095A>G - BRCA2_000026 - - Claudia Martin-Hospital de Córdoba BRCA2 14 NM_000059.3:c.7242A>G p.(=) Hetero BRCA1 r.(=) -
13 Unknown -/- g.32355250T>C - BRCA2_000012 - - Claudia Martin-Hospital de Córdoba BRCA2 14 NM_000059.3:c.7397T>C p.(Val2466Ala) Homo BRCA1 r.(?) -
13 Unknown -/- g.32356799G>A - BRCA2_000044 - - Claudia Martin-Hospital de Córdoba BRCA2 15i NM_000059.3:c.7617+190G>A p.(=) Homo BRCA1 r.(=) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Claudia Martin-Hospital de Córdoba BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Homo BRCA1 r.(=) -
13 Unknown -/- g.32376974A>C - BRCA2_000045 - - Claudia Martin-Hospital de Córdoba BRCA2 21i NM_000059.3:c.8754+183A>C p.(=) Hetero BRCA1 r.(=) -
13 Unknown -/- g.32376978C>T - BRCA2_000046 - - Claudia Martin-Hospital de Córdoba BRCA2 21i NM_000059.3:c.8754+187C>T p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/- g.43045923del - BRCA1_000202 - - Claudia Martin-Hospital de Córdoba BRCA1 23i NM_007294.3:c.5468-121del p.(=) Hetero BRCA1 r.(=) RECLASSIFIED JULY 2022
17 Unknown +/+ g.43093549_43093552del - BRCA1_000132 - - Claudia Martin-Hospital de Córdoba BRCA1 11 NM_007294.3:c.1979_1982del p.(Val660Glyfs*40) Hetero N/A r.(?) -
17 Unknown -/- g.43099914G>A - BRCA1_000012 - - Claudia Martin-Hospital de Córdoba BRCA1 7i NM_007294.3:c.442-34C>T p.(=) Homo BRCA1 r.(=) -
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