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     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

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?/? 19 c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - VUS g.32944557C>T g.32370420C>T - - BRCA2_000309 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 19 c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - VUS g.32944557C>T g.32370420C>T - - BRCA2_000309 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 19 c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - VUS g.32944557C>T g.32370420C>T - - BRCA2_000309 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 19 c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - VUS g.32944557C>T g.32370420C>T - - BRCA2_000309 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 19 c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - VUS g.32944557C>T g.32370420C>T - - BRCA2_000309 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 19 c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - VUS g.32944557C>T g.32370420C>T - - BRCA2_000309 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 19 c.8350C>T r.(?) p.(Arg2784Trp) - Parent #1 - VUS g.32944557C>T g.32370420C>T - - BRCA2_000309 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
?/. 19 c.8350C>T r.(?) p.Arg2784Trp - Unknown - NA g.32944557C>T g.32370420C>T R2784W - BRCA2_000309 Homology-directed repair assay; as variant control PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.8350C>T r.(?) p.Arg2784Trp - Unknown - NA g.32944557C>T g.32370420C>T R2784W - BRCA2_000309 Centrosome amplification; as wildtype control PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.8350C>T r.(?) p.Arg2784Trp - Unknown - NA g.32944557C>T g.32370420C>T R2784W - BRCA2_000309 Multifactorial likelihood-ratio model; inconclusive PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.8350C>T r.(?) p.Arg2784Trp - Unknown - NA g.32944557C>T g.32370420C>T R2784W - BRCA2_000309 family history; inconclusive PubMed: Gomez-Garcia 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 19 c.8350C>T r.(?) p.Arg2784Trp - Unknown - NA g.32944557C>T g.32370420C>T R2784W - BRCA2_000309 Protein likelihood ratio model; predicted deleterious PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - VUS g.32944557C>T g.32370420C>T - - BRCA2_000309 - - - - Germline - - - - - DNA SEQ - - cancer, ovarian ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+?/. - c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - likely pathogenic g.32944557C>T g.32370420C>T BRCA2(NM_000059.3):c.8350C>T (p.Arg2784Trp, p.R2784W), BRCA2(NM_000059.4):c.8350C>T (p.R2784W) - BRCA2_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - VUS g.32944557C>T g.32370420C>T BRCA2(NM_000059.3):c.8350C>T (p.Arg2784Trp, p.R2784W), BRCA2(NM_000059.4):c.8350C>T (p.R2784W) - BRCA2_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - pathogenic g.32944557C>T g.32370420C>T BRCA2(NM_000059.3):c.8350C>T (p.Arg2784Trp, p.R2784W), BRCA2(NM_000059.4):c.8350C>T (p.R2784W) - BRCA2_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - likely pathogenic g.32944557C>T g.32370420C>T BRCA2(NM_000059.3):c.8350C>T (p.Arg2784Trp, p.R2784W), BRCA2(NM_000059.4):c.8350C>T (p.R2784W) - BRCA2_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8350C>T r.(?) p.(Arg2784Trp) - Parent #1 - VUS g.32944557C>T g.32370420C>T - - BRCA2_000309 classified as class 3, 4 or 5 in 2/25800 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.8350C>T r.(?) p.(Arg2784Trp) - Parent #1 - NA g.32944557C>T - chr13_32944557_C_T - BRCA2_000309 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 - 1/60466 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 - 1 BRIDGES consortium
?/. - c.8350C>T r.(?) p.(Arg2784Trp) - Parent #1 - NA g.32944557C>T - chr13_32944557_C_T - BRCA2_000309 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 - 3/53461 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 - 3 BRIDGES consortium
+/. 19 c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - pathogenic (dominant) g.32944557C>T g.32370420C>T 8350C>T - BRCA2_000309 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 113 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+?/. - c.8350C>T r.(?) p.(Arg2784Trp) - Unknown - likely pathogenic g.32944557C>T - BRCA2(NM_000059.3):c.8350C>T (p.Arg2784Trp, p.R2784W), BRCA2(NM_000059.4):c.8350C>T (p.R2784W) - BRCA2_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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