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.

10 entries on 1 page. Showing entries 1 - 10.
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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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Re-site     

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Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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+/. 20 c.8524C>T r.(?) p.Arg2842Cys - Unknown - NA g.32945129C>T g.32370992C>T R2842C - BRCA2_000340 Protein likelihood ratio model; predicted deleterious PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 20 c.8524C>T r.(?) p.(Arg2842Cys) - Unknown - VUS g.32945129C>T g.32370992C>T - - BRCA2_000340 - - - rs80359104 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR1555 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 20 c.8524C>T r.(?) p.(Arg2842Cys) - Unknown - VUS g.32945129C>T g.32370992C>T - - BRCA2_000340 - - - rs80359104 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR1557 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 20 c.8524C>T r.(?) p.(Arg2842Cys) - Unknown - VUS g.32945129C>T g.32370992C>T - - BRCA2_000340 - Journal: Gao 2020 as reported in: PubMed: Li 2017, Journal: Li 2017 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Li 2017, Journal: Li 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
?/. - c.8524C>T r.(?) p.(Arg2842Cys) - Parent #1 - VUS g.32945129C>T g.32370992C>T - - BRCA2_000340 classified as class 3, 4 or 5 in 1/12850 targeted tests and 1/25800 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 - 2 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 2 UK Variant Sharing Initiative
?/. - c.8524C>T r.(?) p.(Arg2842Cys) - Parent #1 - VUS g.32945129C>T g.32370992C>T 8524 - BRCA2_000340 classified as class 3, 4 or 5 in 1/25800 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 - 1 case - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 1 UK Variant Sharing Initiative
?/. - c.8524C>T r.(?) p.(Arg2842Cys) - Unknown - VUS g.32945129C>T g.32370992C>T - - BRCA2_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 20 c.8524C>T r.(?) p.(Arg2842Cys) - Both (homozygous) - likely pathogenic (!) g.32945129C>T - - - BRCA2_000340 associated phenotype primary ovarian insufficiency PubMed: Caburet 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? patient PubMed: Caburet 2021 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.8524C>T r.(?) p.(Arg2842Cys) - Parent #1 - NA g.32945129C>T - chr13_32945129_C_T - BRCA2_000340 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 - 3/60466 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 - 3 BRIDGES consortium
?/. - c.8524C>T r.(?) p.(Arg2842Cys) - Parent #1 - NA g.32945129C>T - chr13_32945129_C_T - BRCA2_000340 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 - 2/53461 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 - 2 BRIDGES consortium
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