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.

18 entries on 1 page. Showing entries 1 - 18.
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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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-/- 20 c.8503T>C r.(=) p.(Ser2835Pro) - Unknown - benign g.32945108T>C g.32370971T>C - - BRCA2_000338 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs11571746 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 20 c.8503T>C r.(?) p.(Ser2835Pro) - Parent #1 - benign g.32945108T>C g.32370971T>C - - BRCA2_000338 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 20 c.8503T>C r.(?) p.(Ser2835Pro) - Parent #1 - benign g.32945108T>C g.32370971T>C - - BRCA2_000338 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 20 c.8503T>C r.(?) p.Ser2835Pro - Unknown - NA g.32945108T>C g.32370971T>C S2835P - BRCA2_000338 - PubMed: Johnson 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 20 c.8503T>C r.(?) p.Ser2835Pro - Unknown - NA g.32945108T>C g.32370971T>C S2835P - BRCA2_000338 Protein likelihood ratio model; predicted neutral PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8503T>C r.(?) p.(Ser2835Pro) - Unknown - benign g.32945108T>C g.32370971T>C - - BRCA2_000338 - shared by Quest Diagnostics - - Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/. - c.8503T>C r.(?) p.(Ser2835Pro) - Parent #1 - benign g.32945108T>C g.32370971T>C - - BRCA2_000338 BIC - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. 20 c.8503T>C r.(?) p.(Ser2835Pro) - Unknown ENIGMA benign g.32945108T>C g.32370971T>C S2835P - BRCA2_000338 - - - rs11571746 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.8503T>C r.(?) p.(Ser2835Pro) - Unknown - benign g.32945108T>C g.32370971T>C BRCA2(NM_000059.3):c.8503T>C (p.S2835P, p.(Ser2835Pro)), BRCA2(NM_000059.4):c.8503T>C (p.S2835P) - BRCA2_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8503T>C r.(?) p.(Ser2835Pro) - Unknown - benign g.32945108T>C g.32370971T>C BRCA2(NM_000059.3):c.8503T>C (p.S2835P, p.(Ser2835Pro)), BRCA2(NM_000059.4):c.8503T>C (p.S2835P) - BRCA2_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8503T>C r.(?) p.(Ser2835Pro) - Unknown - benign g.32945108T>C g.32370971T>C BRCA2(NM_000059.3):c.8503T>C (p.S2835P, p.(Ser2835Pro)), BRCA2(NM_000059.4):c.8503T>C (p.S2835P) - BRCA2_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8503T>C r.(?) p.(Ser2835Pro) - Parent #1 - VUS g.32945108T>C g.32370971T>C - - BRCA2_000338 classified as class 3, 4 or 5 in 3/25800 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 - 3 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 3 UK Variant Sharing Initiative
-/. - c.8503T>C r.(?) p.(Ser2835Pro) - Unknown - benign g.32945108T>C - BRCA2(NM_000059.3):c.8503T>C (p.S2835P, p.(Ser2835Pro)), BRCA2(NM_000059.4):c.8503T>C (p.S2835P) - BRCA2_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8503T>C r.(?) p.(Ser2835Pro) - Parent #1 - NA g.32945108T>C - chr13_32945108_T_C - BRCA2_000338 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 - 20/60466 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 - 20 BRIDGES consortium
?/. - c.8503T>C r.(?) p.(Ser2835Pro) - Parent #1 - NA g.32945108T>C - chr13_32945108_T_C - BRCA2_000338 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 - 14/53461 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 - 14 BRIDGES consortium
-/. - c.8503T>C r.(?) p.(Ser2835Pro) - Unknown - benign g.32945108T>C - BRCA2(NM_000059.3):c.8503T>C (p.S2835P, p.(Ser2835Pro)), BRCA2(NM_000059.4):c.8503T>C (p.S2835P) - BRCA2_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8503T>C r.(?) p.(Ser2835Pro) - Unknown - benign g.32945108T>C - BRCA2(NM_000059.3):c.8503T>C (p.S2835P, p.(Ser2835Pro)), BRCA2(NM_000059.4):c.8503T>C (p.S2835P) - BRCA2_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 20 c.8503T>C r.(?) p.(Ser2835Pro) - Unknown - benign g.32945108T>C g.32370971T>C - - BRCA2_000338 - Nodo Argentina Varioma, unpublished - rs11571746 Germline - - - - - DNA SEQ - - BROVCA BR3342 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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