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.

29 entries on 1 page. Showing entries 1 - 29.
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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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Methylation     

Template     

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Disease     

ID_report     

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Owner     
?/? 3 c.223G>C r.(?) p.(AlaPro) - Unknown - VUS g.32893369G>C g.32319232G>C - - BRCA2_000020 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
?/- 3 c.223G>C r.(=) p.(Ala75Pro) - Unknown - VUS g.32893369G>C g.32319232G>C - - BRCA2_000020 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897701 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 3 c.223G>C r.(?) p.(Ala75Pro) - Parent #1 - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 3 c.223G>C r.(?) p.(Ala75Pro) - Parent #1 - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 3 c.223G>C r.(?) p.(Ala75Pro) - Parent #1 - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 3 c.223G>C r.(?) p.(Ala75Pro) - Parent #1 - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 3 c.223G>C r.(?) p.Ala75Pro - Unknown - NA g.32893369G>C g.32319232G>C A75P - BRCA2_000020 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.223G>C r.(?) p.Ala75Pro - Unknown - NA g.32893369G>C g.32319232G>C A75P - BRCA2_000020 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.223G>C r.= p.Ala75Pro - Unknown - NA g.32893369G>C g.32319232G>C c.223G>C - BRCA2_000020 splicing reporter minigene/patient RNA analysis; no splicing defect PubMed: Théry 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 - shared by Quest Diagnostics - rs28897701 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 3 c.223G>C r.(?) p.(Ala75Pro) - Unknown kConFab likely benign g.32893369G>C g.32319232G>C BRCA2 342 G>C (A75P) - BRCA2_000020 - kConFab variant classification: LCS - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
?/. 3 c.223G>C r.(?) p.(Ala75Pro) - Parent #1 - VUS g.32893369G>C g.32319232G>C 451G>C-Ala75Pro (A75P) - BRCA2_000020 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
-/- 3 c.223G>C r.(?) p.(Ala75Pro) - Parent #1 - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.00000000928 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 - - - rs28897701 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1393 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 - - - rs28897701 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR0493 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 - - - rs28897701 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1318 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C g.32319232G>C BRCA2(NM_000059.3):c.223G>C (p.A75P, p.(Ala75Pro)), BRCA2(NM_000059.4):c.223G>C (p.A75P) - BRCA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C g.32319232G>C BRCA2(NM_000059.3):c.223G>C (p.A75P, p.(Ala75Pro)), BRCA2(NM_000059.4):c.223G>C (p.A75P) - BRCA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 - - - rs28897701 Germline - 4/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 - - - rs28897701 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 - - - rs28897701 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.223G>C r.(?) p.(Ala75Pro) - Parent #1 - VUS g.32893369G>C g.32319232G>C - - BRCA2_000020 classified as class 1, 2, 3, 4 or 5 in 11/25800 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 - 11 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 11 UK Variant Sharing Initiative
-/. - c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C - BRCA2(NM_000059.3):c.223G>C (p.A75P, p.(Ala75Pro)), BRCA2(NM_000059.4):c.223G>C (p.A75P) - BRCA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223G>C r.(?) p.(Ala75Pro) - Parent #1 - NA g.32893369G>C - chr13_32893369_G_C - BRCA2_000020 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 - 49/60466 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 - 49 BRIDGES consortium
?/. - c.223G>C r.(?) p.(Ala75Pro) - Parent #1 - NA g.32893369G>C - chr13_32893369_G_C - BRCA2_000020 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 - 39/53461 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 - 39 BRIDGES consortium
-/. - c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C - BRCA2(NM_000059.3):c.223G>C (p.A75P, p.(Ala75Pro)), BRCA2(NM_000059.4):c.223G>C (p.A75P) - BRCA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.223G>C r.(=) p.(Ala75Pro) - Unknown ACMG benign g.32893369G>C - c.223G>C - BRCA2_000020 classification based on multiple evidence types incl. bioinformatics, RNA analysis, mini-gene splicing assays, clinical data, etc. PubMed: Thomassen 2022 - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C - BRCA2(NM_000059.3):c.223G>C (p.A75P, p.(Ala75Pro)), BRCA2(NM_000059.4):c.223G>C (p.A75P) - BRCA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.223G>C r.(?) p.(Ala75Pro) - Unknown - benign g.32893369G>C g.32319232G>C - - BRCA2_000020 - Nodo Argentina Varioma, unpublished - rs28897701 Germline - - - - - DNA SEQ - - BROVCA BR3048 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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