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)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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-/- 11 c.5312G>A r.(=) p.(Gly1771Asp) - Unknown - benign g.32913804G>A g.32339667G>A - - BRCA2_000134 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs80358755 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Parent #1 - benign g.32913804G>A g.32339667G>A - - BRCA2_000134 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Parent #1 - benign g.32913804G>A g.32339667G>A - - BRCA2_000134 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Parent #1 - benign g.32913804G>A g.32339667G>A - - BRCA2_000134 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/. 11 c.5312G>A r.(?) p.Gly1771Asp - Unknown - NA g.32913804G>A g.32339667G>A G1771D - BRCA2_000134 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.5312G>A r.(?) p.Gly1771Asp - Unknown - NA g.32913804G>A g.32339667G>A G1771D - BRCA2_000134 - PubMed: Edwards 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.5312G>A r.(?) p.Gly1771Asp - Unknown - NA g.32913804G>A g.32339667G>A G1771D - BRCA2_000134 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - benign g.32913804G>A g.32339667G>A - - BRCA2_000134 - shared by Quest Diagnostics - rs80358755 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Parent #1 - VUS g.32913804G>A g.32339667G>A Gly1771Asp - BRCA2_000134 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
-/- 11 c.5312G>A p.Gly1771Asp p.(Gly1771Asp) - Unknown ENIGMA benign g.32913804G>A g.32339667G>A G1771D - BRCA2_000134 - - - rs80358755 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.5312G>A p.Gly1771Asp p.(Gly1771Asp) - Unknown ENIGMA benign g.32913804G>A g.32339667G>A G1771D - BRCA2_000134 - - - rs80358755 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Parent #1 - benign g.32913804G>A g.32339667G>A - - BRCA2_000134 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.000000153 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - benign g.32913804G>A g.32339667G>A - - BRCA2_000134 - - - rs80358755 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR0362 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - benign g.32913804G>A g.32339667G>A - - BRCA2_000134 - - - rs80358755 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1460 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - benign g.32913804G>A g.32339667G>A - - BRCA2_000134 - - - rs80358755 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0728 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - benign g.32913804G>A g.32339667G>A - - BRCA2_000134 - - - rs80358755 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1090 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - VUS g.32913804G>A g.32339667G>A - - BRCA2_000134 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - VUS g.32913804G>A g.32339667G>A - - BRCA2_000134 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/- 11 c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - VUS g.32913804G>A g.32339667G>A - - BRCA2_000134 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-/- - c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - benign g.32913804G>A g.32339667G>A BRCA2(NM_000059.3):c.5312G>A (p.G1771D, p.(Gly1771Asp)), BRCA2(NM_000059.4):c.5312G>A (p.G1771D) - BRCA2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/- - c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - likely benign g.32913804G>A g.32339667G>A BRCA2(NM_000059.3):c.5312G>A (p.G1771D, p.(Gly1771Asp)), BRCA2(NM_000059.4):c.5312G>A (p.G1771D) - BRCA2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - benign g.32913804G>A g.32339667G>A BRCA2(NM_000059.3):c.5312G>A (p.G1771D, p.(Gly1771Asp)), BRCA2(NM_000059.4):c.5312G>A (p.G1771D) - BRCA2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - benign g.32913804G>A g.32339667G>A BRCA2(NM_000059.3):c.5312G>A (p.G1771D, p.(Gly1771Asp)), BRCA2(NM_000059.4):c.5312G>A (p.G1771D) - BRCA2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5312G>A r.(?) p.(Gly1771Asp) - Parent #1 - VUS g.32913804G>A g.32339667G>A - - BRCA2_000134 classified as class 1, 2, 3, 4 or 5 in 1/12850 targeted tests and 4/25800 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.5312G>A r.(?) p.(Gly1771Asp) - Parent #1 - NA g.32913804G>A - chr13_32913804_G_A - BRCA2_000134 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 - 42/60466 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 - 42 BRIDGES consortium
?/. - c.5312G>A r.(?) p.(Gly1771Asp) - Parent #1 - NA g.32913804G>A - chr13_32913804_G_A - BRCA2_000134 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 - 41/53461 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 - 41 BRIDGES consortium
-/. - c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - benign g.32913804G>A - BRCA2(NM_000059.3):c.5312G>A (p.G1771D, p.(Gly1771Asp)), BRCA2(NM_000059.4):c.5312G>A (p.G1771D) - BRCA2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - benign g.32913804G>A - BRCA2(NM_000059.3):c.5312G>A (p.G1771D, p.(Gly1771Asp)), BRCA2(NM_000059.4):c.5312G>A (p.G1771D) - BRCA2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5312G>A r.(?) p.(Gly1771Asp) - Unknown - benign g.32913804G>A - BRCA2(NM_000059.3):c.5312G>A (p.G1771D, p.(Gly1771Asp)), BRCA2(NM_000059.4):c.5312G>A (p.G1771D) - BRCA2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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