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.

22 entries on 1 page. Showing entries 1 - 22.
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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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Methylation     

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Disease     

ID_report     

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Owner     
?/- 11 c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - VUS g.32914196G>A g.32340059G>A - - BRCA2_000142 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
?/? 11 c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - VUS g.32914196G>A g.32340059G>A - - BRCA2_000142 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/- 11 c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - VUS g.32914196G>A g.32340059G>A - - BRCA2_000142 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
?/- 11 c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - VUS g.32914196G>A g.32340059G>A - - BRCA2_000142 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
?/- 11 c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - VUS g.32914196G>A g.32340059G>A - - BRCA2_000142 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/- 11 c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - VUS g.32914196G>A g.32340059G>A - - BRCA2_000142 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
-/. 11 c.5704G>A r.(?) p.Asp1902Asn - Unknown - NA g.32914196G>A g.32340059G>A D1902N - BRCA2_000142 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - benign g.32914196G>A g.32340059G>A - - BRCA2_000142 - shared by Quest Diagnostics - rs4987048 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/- 11 c.5704G>A r.(?) p.(Asp1902Asn) - Parent #1 - VUS g.32914196G>A g.32340059G>A - - BRCA2_000142 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
-/- 11 c.5704G>A r.(?) p.(Asp1902Asn) - Parent #1 - benign g.32914196G>A g.32340059G>A - - BRCA2_000142 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01626 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - benign g.32914196G>A g.32340059G>A - - BRCA2_000142 - - - rs4987048 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR1016 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - benign g.32914196G>A g.32340059G>A - - BRCA2_000142 - - - rs4987048 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR1200 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/- 11 c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - VUS g.32914196G>A g.32340059G>A - - BRCA2_000142 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
-/- - c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - benign g.32914196G>A g.32340059G>A BRCA2(NM_000059.3):c.5704G>A (p.D1902N, p.(Asp1902Asn)), BRCA2(NM_000059.4):c.5704G>A (p.D1902N) - BRCA2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/- - c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - likely benign g.32914196G>A g.32340059G>A BRCA2(NM_000059.3):c.5704G>A (p.D1902N, p.(Asp1902Asn)), BRCA2(NM_000059.4):c.5704G>A (p.D1902N) - BRCA2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - benign g.32914196G>A g.32340059G>A BRCA2(NM_000059.3):c.5704G>A (p.D1902N, p.(Asp1902Asn)), BRCA2(NM_000059.4):c.5704G>A (p.D1902N) - BRCA2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - benign g.32914196G>A g.32340059G>A - - BRCA2_000142 - - - rs4987048 Germline - 3/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.5704G>A r.(?) p.(Asp1902Asn) - Parent #1 - VUS g.32914196G>A g.32340059G>A - - BRCA2_000142 classified as class 1, 2, 3, 4 or 5 in 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 - 4 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 4 UK Variant Sharing Initiative
?/. - c.5704G>A r.(?) p.(Asp1902Asn) - Parent #1 - NA g.32914196G>A - chr13_32914196_G_A - BRCA2_000142 not in 53461 controls; 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 - 2/60466 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 - 2 BRIDGES consortium
-/. - c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - benign g.32914196G>A - BRCA2(NM_000059.3):c.5704G>A (p.D1902N, p.(Asp1902Asn)), BRCA2(NM_000059.4):c.5704G>A (p.D1902N) - BRCA2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - benign g.32914196G>A - BRCA2(NM_000059.3):c.5704G>A (p.D1902N, p.(Asp1902Asn)), BRCA2(NM_000059.4):c.5704G>A (p.D1902N) - BRCA2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5704G>A r.(?) p.(Asp1902Asn) - Unknown - likely benign g.32914196G>A - BRCA2(NM_000059.3):c.5704G>A (p.D1902N, p.(Asp1902Asn)), BRCA2(NM_000059.4):c.5704G>A (p.D1902N) - BRCA2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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