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.
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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     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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VIP     

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Panel size     

Owner     
?/- 10 c.1786G>C r.(=) p.(Asp596His) - Unknown - VUS g.32907401G>C g.32333264G>C - - BRCA2_002012 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs56328701 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/. 10 c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C g.32333264G>C - - BRCA2_002012 - shared by Quest Diagnostics - rs56328701 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 10 c.1786G>C r.(?) p.(Asp596His) - Unknown kConFab likely benign g.32907401G>C g.32333264G>C BRCA2 2014G>C (D596H) - BRCA2_002012 - kConFab variant classification: LCS - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
-/. 10 c.1786G>C r.(?) p.(Asp596His) - Parent #1 - benign g.32907401G>C g.32333264G>C 2014G>C-Asp596His (D596H) - BRCA2_002012 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 2 families (BRCA1/2 screening) - - Greece - - - - - 2 Florentia Fostira
-/. 10 c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C g.32333264G>C - - BRCA2_002012 - - - rs56328701 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR1324 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10 c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C g.32333264G>C - - BRCA2_002012 - - - rs56328701 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR1223 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10 c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C g.32333264G>C - - BRCA2_002012 - - - rs56328701 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR1233 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10 c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C g.32333264G>C - - BRCA2_002012 - - - rs56328701 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR1048 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C g.32333264G>C BRCA2(NM_000059.3):c.1786G>C (p.D596H, p.(Asp596His), p.Asp596His), BRCA2(NM_000059.4):c.1786G>C (p.D596H) - BRCA2_002012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C g.32333264G>C BRCA2(NM_000059.3):c.1786G>C (p.D596H, p.(Asp596His), p.Asp596His), BRCA2(NM_000059.4):c.1786G>C (p.D596H) - BRCA2_002012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C g.32333264G>C BRCA2(NM_000059.3):c.1786G>C (p.D596H, p.(Asp596His), p.Asp596His), BRCA2(NM_000059.4):c.1786G>C (p.D596H) - BRCA2_002012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C g.32333264G>C BRCA2(NM_000059.3):c.1786G>C (p.D596H, p.(Asp596His), p.Asp596His), BRCA2(NM_000059.4):c.1786G>C (p.D596H) - BRCA2_002012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C g.32333264G>C BRCA2(NM_000059.3):c.1786G>C (p.D596H, p.(Asp596His), p.Asp596His), BRCA2(NM_000059.4):c.1786G>C (p.D596H) - BRCA2_002012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C g.32333264G>C BRCA2(NM_000059.3):c.1786G>C (p.D596H, p.(Asp596His), p.Asp596His), BRCA2(NM_000059.4):c.1786G>C (p.D596H) - BRCA2_002012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1786G>C r.(?) p.(Asp596His) - Parent #1 - NA g.32907401G>C - chr13_32907401_G_C - BRCA2_002012 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 - 58/60466 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 - 58 BRIDGES consortium
?/. - c.1786G>C r.(?) p.(Asp596His) - Parent #1 - NA g.32907401G>C - chr13_32907401_G_C - BRCA2_002012 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 - 43/53461 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 - 43 BRIDGES consortium
-/. - c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C - BRCA2(NM_000059.3):c.1786G>C (p.D596H, p.(Asp596His), p.Asp596His), BRCA2(NM_000059.4):c.1786G>C (p.D596H) - BRCA2_002012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1786G>C r.(?) p.(Asp596His) - Parent #1 - VUS g.32907401G>C g.32333264G>C - - BRCA2_002012 classified as class 1, 2, 3, 4 or 5 in 1/12850 targeted tests and 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 - 8 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 8 UK Variant Sharing Initiative
-/. 10 c.1786G>C r.(?) p.(Asp596His) - Unknown - benign g.32907401G>C g.32333264G>C - - BRCA2_002012 - Nodo Argentina Varioma, unpublished - rs56328701 Germline - - - - - DNA SEQ - - BROVCA BR3148 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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