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.

12 entries on 1 page. Showing entries 1 - 12.
Legend   How to query  

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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 11 c.2588dup r.(?) p.(fs*) FA FANCD1_00015 Parent #1 - pathogenic g.32911080dup g.32336943dup - - BRCA2_002029 - PubMed: Wagner 2004 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 11 c.2588dup r.(?) p.(Asn863Lysfs*18) - Parent #1 - pathogenic (dominant) g.32911080dup g.32336943dup 2588dupA - BRCA2_002029 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2588dup r.(?) p.(Asn863Lysfs*18) - Parent #1 - pathogenic g.32911080dup g.32336943dup - - BRCA2_002029 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Canada white - - - - 2 Johan den Dunnen
+/. 11 c.2588dup r.(?) p.(Asn863Lysfs*18) - Parent #1 - pathogenic g.32911080dup g.32336943dup - - BRCA2_002029 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France white - - - - 2 Johan den Dunnen
+/. 11 c.2588dup r.(?) p.(Asn863Lysfs*18) - Parent #1 - pathogenic g.32911080dup g.32336943dup - - BRCA2_002029 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Italy white - - - - 1 Johan den Dunnen
+/. 11 c.2588dup r.(?) p.(Asn863Lysfs*18) - Parent #1 - pathogenic g.32911080dup g.32336943dup - - BRCA2_002029 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United Kingdom (Great Britain) white - - - - 3 Johan den Dunnen
+/. 11 c.2588dup r.(?) p.(Asn863Lysfs*18) - Parent #1 - pathogenic g.32911080dup g.32336943dup - - BRCA2_002029 - 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.2588dup r.(?) p.(Asn863Lysfs*18) - Parent #1 - pathogenic g.32911080dup g.32336943dup - - BRCA2_002029 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - United States white - - - - 6 Johan den Dunnen
+/. - c.2588dup r.(?) p.(Asn863Lysfs*18) - Parent #1 - pathogenic g.32911080dup g.32336943dup 2816insA, 2588dupA - BRCA2_002029 - PubMed: Bhaskaran 2019 - (refs 38, 40, 62, 64, 79, 80) - - Germline - 6/770 cases - - - DNA DHPLC - - cancer, breast BRCA1-var140 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 6 Johan den Dunnen
+/. 11 c.2588dup r.(?) p.(Asn863Lysfs*18) - Unknown - pathogenic (dominant) g.32911080dup g.32336943dup 2586_2587insA - BRCA2_002029 - Journal: Gao 2020 as reported in: PubMed: Li 2007, Journal: Li 2007, Nanyan Rao 2008 - - Germline - 2 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Li 2007, Journal: Li 2007, Nanyan Rao 2008 breast/ovarian cancer families/patients - - China - - - - - 2 Xianqi Gao
?/. - c.2588dup r.(?) p.(Asn863Lysfs*18) - Parent #1 - VUS g.32911080dup g.32336943dup 2588dupA, 2583dupA - BRCA2_002029 classified as class 3, 4 or 5 in 6/12850 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 - 11 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 11 UK Variant Sharing Initiative
?/. - c.2588dup r.(?) p.(Asn863Lysfs*18) - Parent #1 - NA g.32911080dup - chr13_32911073_C_CA - BRCA2_002029 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
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.