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.

29 entries on 1 page. Showing entries 1 - 29.
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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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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/- 22 c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - VUS g.32953529A>T g.32379392A>T - - BRCA2_000378 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
-/- 22 c.8830A>T r.(=) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T - - BRCA2_000378 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs4987047 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 22 c.8830A>T r.(?) p.(Ile2944Phe) - Parent #1 - benign g.32953529A>T g.32379392A>T - - BRCA2_000378 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-?/. 22 c.8830A>T r.(?) p.Ile2944Phe - Unknown - NA g.32953529A>T g.32379392A>T I2944F - BRCA2_000378 Embryonic stem cell assay; as wildtype control PubMed: Biswas 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 22 c.8830A>T r.(?) p.Ile2944Phe - Unknown - NA g.32953529A>T g.32379392A>T I2944F - BRCA2_000378 - PubMed: Johnson 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8830A>T r.(?) p.Ile2944Phe - Unknown - NA g.32953529A>T g.32379392A>T I2944F - BRCA2_000378 Protein likelihood ratio model; predicted neutral PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 22 c.8830A>T r.(?) p.Ile2944Phe - Unknown - NA g.32953529A>T g.32379392A>T I2944F - BRCA2_000378 - PubMed: Pal 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8830A>T r.(?) p.Ile2944Phe - Unknown - NA g.32953529A>T g.32379392A>T I2944F - BRCA2_000378 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 22 c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T - - BRCA2_000378 - shared by Quest Diagnostics - rs4987047 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 22 c.8830A>T r.(?) p.(Ile2944Phe) - Unknown ENIGMA benign g.32953529A>T g.32379392A>T I2944F - BRCA2_000378 - - - rs4987047 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8830A>T r.(?) p.(Ile2944Phe) - Unknown ENIGMA benign g.32953529A>T g.32379392A>T I2944F - BRCA2_000378 - - - rs4987047 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8830A>T r.(?) p.(Ile2944Phe) - Parent #1 - benign g.32953529A>T g.32379392A>T - - BRCA2_000378 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03455 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 22 c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T - - BRCA2_000378 - - - rs4987047 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1118 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T - - BRCA2_000378 - - - rs4987047 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0829 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T - - BRCA2_000378 - - - rs4987047 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0653 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 22 c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T - - BRCA2_000378 - - - rs4987047 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1367 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- - c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T BRCA2(NM_000059.3):c.8830A>T (p.I2944F, p.(Ile2944Phe)), BRCA2(NM_000059.4):c.8830A>T (p.I2944F) - BRCA2_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T BRCA2(NM_000059.3):c.8830A>T (p.I2944F, p.(Ile2944Phe)), BRCA2(NM_000059.4):c.8830A>T (p.I2944F) - BRCA2_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T BRCA2(NM_000059.3):c.8830A>T (p.I2944F, p.(Ile2944Phe)), BRCA2(NM_000059.4):c.8830A>T (p.I2944F) - BRCA2_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T BRCA2(NM_000059.3):c.8830A>T (p.I2944F, p.(Ile2944Phe)), BRCA2(NM_000059.4):c.8830A>T (p.I2944F) - BRCA2_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T - - BRCA2_000378 - - - rs4987047 Germline - 7/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T - - BRCA2_000378 - - - rs4987047 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T BRCA2(NM_000059.3):c.8830A>T (p.I2944F, p.(Ile2944Phe)), BRCA2(NM_000059.4):c.8830A>T (p.I2944F) - BRCA2_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8830A>T r.(?) p.(Ile2944Phe) - Parent #1 - VUS g.32953529A>T g.32379392A>T - - BRCA2_000378 classified as class 1, 2, 3, 4 or 5 in 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 - 5 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 5 UK Variant Sharing Initiative
?/. - c.8830A>T r.(?) p.(Ile2944Phe) - Parent #1 - NA g.32953529A>T - chr13_32953529_A_T - BRCA2_000378 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 - 5/60466 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 - 5 BRIDGES consortium
?/. - c.8830A>T r.(?) p.(Ile2944Phe) - Parent #1 - NA g.32953529A>T - chr13_32953529_A_T - BRCA2_000378 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 - 3/53461 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 - 3 BRIDGES consortium
-/. - c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T - BRCA2(NM_000059.3):c.8830A>T (p.I2944F, p.(Ile2944Phe)), BRCA2(NM_000059.4):c.8830A>T (p.I2944F) - BRCA2_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T - BRCA2(NM_000059.3):c.8830A>T (p.I2944F, p.(Ile2944Phe)), BRCA2(NM_000059.4):c.8830A>T (p.I2944F) - BRCA2_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8830A>T r.(?) p.(Ile2944Phe) - Unknown - benign g.32953529A>T g.32379392A>T - - BRCA2_000378 - PubMed: Oosthuizen 2021 - rs4987047 Germline - 0.036 - - - DNA SEQ - - BROVCA SNP34 PubMed: Oosthuizen 2021 - - - South Africa - - - - - 1 Johan den Dunnen
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