Full data view for gene BRCA2

All records describing functional studies of specific variants.
BRCA2 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000059.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 11 c.4284dup r.(?) p.(Gln1429fs) - Unknown - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.4284dup r.(?) p.(Gln1429fs) - Unknown - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic (dominant) g.32912776dup g.32338639dup - - BRCA2_001668 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Unknown - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Unknown - pathogenic g.32912776dup g.32338639dup c.4284dupT - BRCA2_001668 ook BRCA2 c.10095delCins11 variant - - - Germline - - - - - DNA SEQ-NG - - cancer, breast ? - - - - Belgium - - - - - 1 Katrien Storm
+/. - c.4284dup r.(?) p.(Gln1429SerfsTer9) - Unknown - pathogenic g.32912776dup g.32338639dup BRCA2(NM_000059.3):c.4284dupT (p.Q1429Sfs*9) - BRCA2_001668 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Austria white - - - - 3 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil white - - - - 1 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil unknown - - - - 1 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada white - - - - 1 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Czech Republic white - - - - 1 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Denmark white - - - - 3 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Germany unknown - - - - 5 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Hungary white - - - - 1 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Italy white - - - - 5 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - South Africa unknown - - - - 1 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Hispanic - - - - 1 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States unknown - - - - 1 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - United States white - - - - 7 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Unknown - pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 - - - rs80359439 Germline - 1/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Unknown - pathogenic g.32912776dup g.32338639dup 4512insT - BRCA2_001668 - Laitman, submitted - rs80359440 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Greece - - - - - 1 Eitan Friedman
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Unknown - pathogenic g.32912776dup g.32338639dup 4512insT - BRCA2_001668 - Laitman, submitted - rs80359440 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Italy - - - - - 1 Eitan Friedman
+/. - c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic (dominant) g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
?/. - c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - VUS g.32912776dup g.32338639dup 4284dupT, 4279_4280insT - BRCA2_001668 classified as class 3, 4 or 5 in 5/12850 targeted tests and 5/25800 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 - 10 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 10 UK Variant Sharing Initiative
+/. - c.4284dup r.(?) p.(Gln1429Serfs*9) - Unknown ACMG pathogenic g.32912776dup g.32338639dup - - BRCA2_001668 ACMG: PVS1,PM2,PP5; co-occurence with VUS in NF1 (c.5673T>G; p.Ser1891Arg); Risch et al. 2001. Am J Hum Genet 68: 700; Zuradelli et al. 2010. Breast Cancer Res Treat 124: 251; Roed Nielsen et al. 2016. Acta Oncol 55: 38; PilĂ­e et al. 2017. Cancer 123: 3925 - - rs606231401 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - pathogenic (dominant) g.32912776dup g.32338639dup - - BRCA2_001668 - PubMed: Santonocito 2020 - rs80359439 Germline - 4/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 4 Johan den Dunnen
+/. 11 c.4284dup r.(?) p.(Gln1429Serfs*9) - Unknown ACMG pathogenic (dominant) g.32912776dup g.32338639dup - - BRCA2_001668 ACMG: PVS1, PS4, PM2: class 5 - ClinVar-0000378921 - Germline ? - - - - DNA SEQ-NG-I - - BROVCA2 173306 - - F ? Germany - - - - - 1 Andreas Laner
?/. - c.4284dup r.(?) p.(Gln1429Serfs*9) - Parent #1 - NA g.32912776dup - chr13_32912770_A_AT - BRCA2_001668 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. - c.4284dup r.(?) p.(Gln1429SerfsTer9) - Unknown - pathogenic g.32912776dup - BRCA2(NM_000059.3):c.4284dupT (p.Q1429Sfs*9) - BRCA2_001668 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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