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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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Segregation     

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Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Owner     
-/- 27 c.10110G>A r.(=) p.(=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897762 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 27 c.10110G>A r.(=) p.(=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 27 c.10110G>A r.(=) p.(=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 27 c.10110G>A r.(?) p.Arg3370Arg - Unknown - NA g.32972760G>A g.32398623G>A 10338G/A (R3370R) - BRCA2_000483 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 27 c.10110G>A r.(?) p.Arg3370Arg - Unknown - NA g.32972760G>A g.32398623G>A R3370R - BRCA2_000483 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 27 c.10110G>A r.(=) p.(=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - shared by Quest Diagnostics - rs28897762 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 27 c.10110G>A r.(=) p.(=) - Unknown kConFab benign g.32972760G>A g.32398623G>A BRCA2 10338 G>A (R3370R) - BRCA2_000483 - kConFab variant classification: PM - - Germline - 5/1658 - - - DNA SEQ - - cancer, breast - - 5 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 5 kConFab - Heather Thorne
-/. 27 c.10110G>A r.(?) p.(Arg3370=) - Unknown ENIGMA benign g.32972760G>A g.32398623G>A R3370R - BRCA2_000483 - - - rs28897762 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - - - rs28897762 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR0463 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - - - rs28897762 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0963 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - - - rs28897762 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1204 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - - - rs28897762 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR0724 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - - - rs28897762 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1050 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A BRCA2(NM_000059.3):c.10110G>A (p.R3370=, p.(Arg3370=), p.Arg3370=), BRCA2(NM_000059.4):c.10110G>A (p.R3370=) - BRCA2_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A BRCA2(NM_000059.3):c.10110G>A (p.R3370=, p.(Arg3370=), p.Arg3370=), BRCA2(NM_000059.4):c.10110G>A (p.R3370=) - BRCA2_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A BRCA2(NM_000059.3):c.10110G>A (p.R3370=, p.(Arg3370=), p.Arg3370=), BRCA2(NM_000059.4):c.10110G>A (p.R3370=) - BRCA2_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A BRCA2(NM_000059.3):c.10110G>A (p.R3370=, p.(Arg3370=), p.Arg3370=), BRCA2(NM_000059.4):c.10110G>A (p.R3370=) - BRCA2_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A BRCA2(NM_000059.3):c.10110G>A (p.R3370=, p.(Arg3370=), p.Arg3370=), BRCA2(NM_000059.4):c.10110G>A (p.R3370=) - BRCA2_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 27 c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - - - rs28897762 Germline - 6/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/. 27 c.10110G>A r.(?) p.(=) - Unknown - likely benign g.32972760G>A g.32398623G>A 10338G>A - BRCA2_000483 - PubMed: Jalkh 2012 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Jalkh 2012 cases F - Lebanon - - - - - 1 Johan den Dunnen
?/. 27 c.10110G>A r.(?) p.(=) - Unknown - VUS g.32972760G>A g.32398623G>A - - BRCA2_000483 - PubMed: Stegel 2011 - - Germline - 2/380 cases - - - DNA SEQ - - BROVCA - PubMed: Stegel 2011 cases F - Slovenia - - - - - 2 Johan den Dunnen
-/. 27 c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - - - rs28897762 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.10110G>A r.(?) p.(=) - Parent #1 - VUS g.32972760G>A g.32398623G>A - - BRCA2_000483 classified as class 1, 2, 3, 4 or 5 in 1/12850 targeted tests and 29/25800 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 - 30 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 30 UK Variant Sharing Initiative
-/. - c.10110G>A r.(?) p.(Arg3370=) - Parent #1 - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - PubMed: Dong 2021 - rs28897762 Germline - 1/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1M M - China - - - - - 1 Johan den Dunnen
-/. - c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A - BRCA2(NM_000059.3):c.10110G>A (p.R3370=, p.(Arg3370=), p.Arg3370=), BRCA2(NM_000059.4):c.10110G>A (p.R3370=) - BRCA2_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A - BRCA2(NM_000059.3):c.10110G>A (p.R3370=, p.(Arg3370=), p.Arg3370=), BRCA2(NM_000059.4):c.10110G>A (p.R3370=) - BRCA2_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 27 c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - Nodo Argentina Varioma, unpublished - rs28897762 Germline - - - - - DNA SEQ - - BROVCA BR3219 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - Nodo Argentina Varioma, unpublished - rs28897762 Germline - - - - - DNA SEQ - - BROVCA BR3395 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 27 c.10110G>A r.(?) p.(Arg3370=) - Unknown - benign g.32972760G>A g.32398623G>A - - BRCA2_000483 - Nodo Argentina Varioma, unpublished - rs28897762 Germline - - - - - DNA SEQ - - BROVCA BR2971 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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