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.

28 entries on 1 page. Showing entries 1 - 28.
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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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VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 11 c.6323G>A r.(=) p.(Arg2108His) - Unknown - benign g.32914815G>A g.32340678G>A - - BRCA2_000159 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs35029074 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/? 11 c.6323G>A r.(?) p.(Arg2108His) - Parent #1 - VUS g.32914815G>A g.32340678G>A - - BRCA2_000159 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
-/- 11 c.6323G>A r.(?) p.(Arg2108His) - Unknown - benign g.32914815G>A g.32340678G>A - - BRCA2_000159 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-?/. 11 c.6323G>A r.(?) p.Arg2108His - Unknown - NA g.32914815G>A g.32340678G>A R2108H - BRCA2_000159 Embryonic stem cell assay; as wildtype control PubMed: Biswas 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.6323G>A r.(?) p.Arg2108His - Unknown - NA g.32914815G>A g.32340678G>A R2108H - BRCA2_000159 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.6323G>A r.(?) p.Arg2108His - Unknown - NA g.32914815G>A g.32340678G>A R2108H - BRCA2_000159 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.6323G>A r.(?) p.(Arg2108His) - Unknown - benign g.32914815G>A g.32340678G>A - - BRCA2_000159 - shared by Quest Diagnostics - rs35029074 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.6323G>A r.(?) p.(Arg2108His) - Unknown kConFab benign g.32914815G>A g.32340678G>A BRCA2 6551G>A (R2108H) - BRCA2_000159 - kConFab variant classification: PM - - Germline - 3/1658 - - - DNA SEQ - - cancer, breast - - 3 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 3 kConFab - Heather Thorne
-?/- 11 c.6323G>A r.(?) p.(Arg2108His) - Unknown - likely benign g.32914815G>A g.32340678G>A - - BRCA2_000159 - - - - Germline - - - - - DNA SEQ - - BROVCA2 - - relative of Pat38a - - Argentina mestizos - - - - 1 Roxana Cerretini
-/- 11 c.6323G>A r.(?) p.(Arg2108His) - Unknown ENIGMA benign g.32914815G>A g.32340678G>A R2108H - BRCA2_000159 - - - rs35029074 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6323G>A r.(?) p.(Arg2108His) - Unknown ENIGMA benign g.32914815G>A g.32340678G>A R2108H - BRCA2_000159 - - - rs35029074 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6323G>A r.(?) p.(Arg2108His) - Unknown ENIGMA benign g.32914815G>A g.32340678G>A R2108H - BRCA2_000159 - - - rs35029074 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6323G>A r.(?) p.(Arg2108His) - Parent #1 - benign g.32914815G>A g.32340678G>A - - BRCA2_000159 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 = 0.000000000000372 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.6323G>A r.(?) p.(Arg2108His) - Unknown - benign g.32914815G>A g.32340678G>A - - BRCA2_000159 - - - rs35029074 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR0548 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/- 11 c.6323G>A r.(?) p.(Arg2108His) - Unknown - VUS g.32914815G>A g.32340678G>A - - BRCA2_000159 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-/- - c.6323G>A r.(?) p.(Arg2108His) - Unknown - benign g.32914815G>A g.32340678G>A BRCA2(NM_000059.3):c.6323G>A (p.R2108H, p.(Arg2108His), p.Arg2108His), BRCA2(NM_000059.4):c.6323G>A (p.R2108H) - BRCA2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/- - c.6323G>A r.(?) p.(Arg2108His) - Unknown - likely benign g.32914815G>A g.32340678G>A BRCA2(NM_000059.3):c.6323G>A (p.R2108H, p.(Arg2108His), p.Arg2108His), BRCA2(NM_000059.4):c.6323G>A (p.R2108H) - BRCA2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.6323G>A r.(?) p.(Arg2108His) - Unknown - benign g.32914815G>A g.32340678G>A BRCA2(NM_000059.3):c.6323G>A (p.R2108H, p.(Arg2108His), p.Arg2108His), BRCA2(NM_000059.4):c.6323G>A (p.R2108H) - BRCA2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.6323G>A r.(?) p.(Arg2108His) - Unknown - benign g.32914815G>A g.32340678G>A BRCA2(NM_000059.3):c.6323G>A (p.R2108H, p.(Arg2108His), p.Arg2108His), BRCA2(NM_000059.4):c.6323G>A (p.R2108H) - BRCA2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.6323G>A r.(?) p.(Arg2108His) - Unknown - benign g.32914815G>A g.32340678G>A BRCA2(NM_000059.3):c.6323G>A (p.R2108H, p.(Arg2108His), p.Arg2108His), BRCA2(NM_000059.4):c.6323G>A (p.R2108H) - BRCA2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6323G>A r.(?) p.(Arg2108His) - Parent #1 - VUS g.32914815G>A g.32340678G>A - - BRCA2_000159 classified as class 1, 2, 3, 4 or 5 in 7/25800 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.6323G>A r.(?) p.(Arg2108His) - Parent #1 - NA g.32914815G>A - chr13_32914815_G_A - BRCA2_000159 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 - 88/60466 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 - 88 BRIDGES consortium
?/. - c.6323G>A r.(?) p.(Arg2108His) - Parent #1 - NA g.32914815G>A - chr13_32914815_G_A - BRCA2_000159 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 - 91/53461 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 - 91 BRIDGES consortium
-/. - c.6323G>A r.(?) p.(Arg2108His) - Parent #1 - benign g.32914815G>A g.32340678G>A - - BRCA2_000159 - PubMed: Dong 2021 - rs35029074 Germline - 4/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 3F/1M F;M - China - - - - - 4 Johan den Dunnen
-/. - c.6323G>A r.(?) p.(Arg2108His) - Unknown - benign g.32914815G>A - BRCA2(NM_000059.3):c.6323G>A (p.R2108H, p.(Arg2108His), p.Arg2108His), BRCA2(NM_000059.4):c.6323G>A (p.R2108H) - BRCA2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6323G>A r.(?) p.(Arg2108His) - Unknown - benign g.32914815G>A - BRCA2(NM_000059.3):c.6323G>A (p.R2108H, p.(Arg2108His), p.Arg2108His), BRCA2(NM_000059.4):c.6323G>A (p.R2108H) - BRCA2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.6323G>A r.(?) p.(Arg2108His) - Unknown - benign g.32914815G>A g.32340678G>A - - BRCA2_000159 - Nodo Argentina Varioma, unpublished - rs35029074 Germline - - - - - DNA SEQ - - BROVCA BR3003 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6323G>A r.(?) p.(Arg2108His) - Unknown - benign g.32914815G>A g.32340678G>A - - BRCA2_000159 - Nodo Argentina Varioma, unpublished - rs35029074 Germline - - - - - DNA SEQ - - BROVCA BR3095 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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