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.

18 entries on 1 page. Showing entries 1 - 18.
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     
+/. 17 c.7878G>C r.(?) p.(W2626C) FA FANCD1_00004 Parent #1 - pathogenic g.32936732G>C g.32362595G>C - - BRCA2_000238 4/23/08: classified as a variant of unknown significance by BIC, 11 entries PubMed: Wagner 2004 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 17 c.7878G>C r.(?) p.Trp2626Cys - Unknown - NA g.32936732G>C g.32362595G>C W2626C - BRCA2_000238 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.7878G>C r.(?) p.Trp2626Cys - Unknown - NA g.32936732G>C g.32362595G>C W2626C - BRCA2_000238 Protein likelihood ratio model; predicted deleterious PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 17 c.7878G>C r.(?) p.Trp2626Lys - Unknown - NA g.32936732G>C g.32362595G>C W2626C - BRCA2_000238 Embryonic stem cell assay DSS1 interaction not affected; reduced complementation, HR deficient PubMed: Biswas 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 17 c.7878G>C r.(?) p.(Trp2626Cys) - Unknown - likely pathogenic g.32936732G>C g.32362595G>C - - BRCA2_000238 - Pölsler et al. 2015, submitted - - Germline - 1/238 patients - - - DNA SEQ Leukocytes - BROVCA2 - Pölsler 2015, submitted - F no (Austria) - - - - - 1 Raphael Johannes Morscher
?/. - c.7878G>C r.(?) p.(Trp2626Cys) - Parent #1 - VUS g.32936732G>C g.32362595G>C - - BRCA2_000238 BIC: UV; Alamut ""probably pathogenic PolyPhen-2, HumVar PSIC 0,99; highly conserved AA in BRCA2 - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. 17 c.7878G>C r.(?) p.(Trp2626Cys) - Unknown - VUS g.32936732G>C g.32362595G>C - - BRCA2_000238 - - - - Germline - - - - - DNA SEQ-NG FFPE normal tissue - cancer, breast - - - F - Denmark white ? - - - 1 Mads Malik Aagaard Jørgensen
+/+ 17 c.7878G>C r.(?) p.(Trp2626Cys) - Parent #1 - pathogenic g.32936732G>C g.32362595G>C - - BRCA2_000238 somatic (aquired) / METHYL BRCA1 - - - Somatic - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P14-0353 - 1 Arjen Mensenkamp
+/+ 17 c.7878G>C r.(?) p.(Trp2626Cys) - Parent #1 - pathogenic (dominant) g.32936732G>C g.32362595G>C - - BRCA2_000238 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 5 based on posterior probability = 1 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Guidigli 2013 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.7878G>C r.(?) p.(Trp2626Cys) - Parent #1 - pathogenic g.32936732G>C g.32362595G>C - - BRCA2_000238 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Denmark white - - - - 1 Johan den Dunnen
+/. 17 c.7878G>C r.(?) p.(Trp2626Cys) - Parent #1 - pathogenic g.32936732G>C g.32362595G>C - - BRCA2_000238 - 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
+/. 17 c.7878G>C r.(?) p.(Trp2626Cys) - Parent #1 - pathogenic g.32936732G>C g.32362595G>C - - BRCA2_000238 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States white - - - - 2 Johan den Dunnen
+/. - c.7878G>C r.(?) p.(Trp2626Cys) - Parent #1 - pathogenic g.32936732G>C g.32362595G>C 7878G>C - BRCA2_000238 - PubMed: Bhaskaran 2019 - (refs 91) - rs80359013 Germline - 1/50 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var408 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
+/. - c.7878G>C r.(?) p.(Trp2626Cys) - Unknown - pathogenic g.32936732G>C g.32362595G>C BRCA2(NM_000059.4):c.7878G>C (p.W2626C) - BRCA2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.7878G>C r.(?) p.(Trp2626Cys) - Unknown - pathogenic (dominant) g.32936732G>C g.32362595G>C - - BRCA2_000238 - Journal: Gao 2020 as reported in: PubMed: Zhao 2017, Journal: Zhao 2017 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Zhao 2017, Journal: Zhao 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
+/. 17 c.7878G>C r.(?) p.(Trp2626Cys) - Parent #1 - pathogenic (dominant) g.32936732G>C g.32362595G>C - - BRCA2_000238 - PubMed: Santonocito 2020 - rs80359013 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
?/. - c.7878G>C r.(?) p.(Trp2626Cys) - Parent #1 - NA g.32936732G>C - chr13_32936732_G_C - BRCA2_000238 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 - 7/60466 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 - 7 BRIDGES consortium
?/. - c.7878G>C r.(?) p.(Trp2626Cys) - Parent #1 - NA g.32936732G>C - chr13_32936732_G_C - BRCA2_000238 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 - 5/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 5 BRIDGES consortium
Legend   How to query  


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