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.

19 entries on 1 page. Showing entries 1 - 19.
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     
-/- 23 c.9038C>T r.(=) p.(Thr3013Ile) - Unknown - benign g.32953971C>T g.32379834C>T - - BRCA2_000396 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897755 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 23 c.9038C>T r.(?) p.(Thr3013Ile) - Parent #1 - benign g.32953971C>T g.32379834C>T - - BRCA2_000396 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
?/. 23 c.9038C>T r.(?) p.Thr3013Ile - Unknown - NA g.32953971C>T g.32379834C>T T3013I - BRCA2_000396 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 23 c.9038C>T r.(?) p.Thr3013Ile - Unknown - NA g.32953971C>T g.32379834C>T T3013I - BRCA2_000396 Protein likelihood ratio model; predicted neutral PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 23 c.9038C>T r.(?) p.(Thr3013Ile) - Unknown - benign g.32953971C>T g.32379834C>T - - BRCA2_000396 - shared by Quest Diagnostics - rs28897755 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/? 23 c.9038C>T r.(?) p.(Thr3013Ile) - Unknown kConFab VUS g.32953971C>T g.32379834C>T BRCA2 9266 C>T (T3013I) - BRCA2_000396 - kConFab variant classification: UV - - Germline - 4/1658 - - - DNA SEQ - - cancer, breast - - 4 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 4 kConFab - Heather Thorne
-/. 23 c.9038C>T r.(?) p.(Thr3013Ile) - Parent #1 - benign g.32953971C>T g.32379834C>T - - BRCA2_000396 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 3 families (BRCA1/2 screening) - - Greece - - - - - 3 Florentia Fostira
-/. 23 c.9038C>T r.(?) p.(Thr3013Ile) - Unknown - benign g.32953971C>T g.32379834C>T - - BRCA2_000396 - - - rs28897755 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0806 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 23 c.9038C>T r.(?) p.(Thr3013Ile) - Unknown - benign g.32953971C>T g.32379834C>T - - BRCA2_000396 - - - rs28897755 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1013 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.9038C>T r.(?) p.(Thr3013Ile) - Unknown - benign g.32953971C>T g.32379834C>T BRCA2(NM_000059.3):c.9038C>T (p.T3013I, p.(Thr3013Ile)), BRCA2(NM_000059.4):c.9038C>T (p.T3013I) - BRCA2_000396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9038C>T r.(?) p.(Thr3013Ile) - Unknown - benign g.32953971C>T g.32379834C>T BRCA2(NM_000059.3):c.9038C>T (p.T3013I, p.(Thr3013Ile)), BRCA2(NM_000059.4):c.9038C>T (p.T3013I) - BRCA2_000396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9038C>T r.(?) p.(Thr3013Ile) - Unknown - benign g.32953971C>T g.32379834C>T BRCA2(NM_000059.3):c.9038C>T (p.T3013I, p.(Thr3013Ile)), BRCA2(NM_000059.4):c.9038C>T (p.T3013I) - BRCA2_000396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 23 c.9038C>T r.(?) p.(Thr3013Ile) - Unknown - pathogenic g.32953971C>T g.32379834C>T 9266C>T (T3031I) - BRCA2_000396 - PubMed: Yassaee 2002, Journal: Laitman 2019 - - Germline - 1/83 cases - - - DNA SSCA, SEQ - - BROVCA - PubMed: Yassaee 2002, Journal: Laitman 2019 cases F - Iran - - - - - 1 Eitan Friedman
-/. - c.9038C>T r.(?) p.(Thr3013Ile) - Unknown - benign g.32953971C>T g.32379834C>T - - BRCA2_000396 - PubMed: Santonocito 2020 - rs28897755 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA Pat8 PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
?/. - c.9038C>T r.(?) p.(Thr3013Ile) - Parent #1 - NA g.32953971C>T - chr13_32953971_C_T - BRCA2_000396 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 - 35/60466 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 - 35 BRIDGES consortium
?/. - c.9038C>T r.(?) p.(Thr3013Ile) - Parent #1 - NA g.32953971C>T - chr13_32953971_C_T - BRCA2_000396 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 - 35/53461 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 - 35 BRIDGES consortium
-/. - c.9038C>T r.(?) p.(Thr3013Ile) - Unknown - benign g.32953971C>T - BRCA2(NM_000059.3):c.9038C>T (p.T3013I, p.(Thr3013Ile)), BRCA2(NM_000059.4):c.9038C>T (p.T3013I) - BRCA2_000396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9038C>T r.(?) p.(Thr3013Ile) - Parent #1 - VUS g.32953971C>T g.32379834C>T - - BRCA2_000396 classified as class 1, 2, 3, 4 or 5 in 1/12850 targeted tests and 6/25800 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 - 7 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 7 UK Variant Sharing Initiative
-?/. - c.9038C>T r.(?) p.(Thr3013Ile) - Unknown - likely benign g.32953971C>T - BRCA2(NM_000059.3):c.9038C>T (p.T3013I, p.(Thr3013Ile)), BRCA2(NM_000059.4):c.9038C>T (p.T3013I) - BRCA2_000396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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