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.

27 entries on 1 page. Showing entries 1 - 27.
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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)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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VIP     

Data_av     

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Panel size     

Owner     
?/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Unknown - VUS g.32968861T>C g.32394724T>C - - BRCA2_000442 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Unknown - VUS g.32968861T>C g.32394724T>C - - BRCA2_000442 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Unknown - VUS g.32968861T>C g.32394724T>C - - BRCA2_000442 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
-/- 25 c.9292T>C r.(=) p.(Tyr3098His) - Unknown - benign g.32968861T>C g.32394724T>C - - BRCA2_000442 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs41293521 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/. 25 c.9292T>C r.(?) p.Tyr3098His - Unknown - NA g.32968861T>C g.32394724T>C Y3098H - BRCA2_000442 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 25 c.9292T>C r.(?) p.Tyr3098His - Unknown - NA g.32968861T>C g.32394724T>C Y3098H - BRCA2_000442 - PubMed: Edwards 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 25 c.9292T>C r.(?) p.Tyr3098His - Unknown - NA g.32968861T>C g.32394724T>C Y3098H - BRCA2_000442 Protein likelihood ratio model; inconclusive PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Unknown - benign g.32968861T>C g.32394724T>C - - BRCA2_000442 - shared by Quest Diagnostics - rs41293521 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Unknown kConFab likely benign g.32968861T>C g.32394724T>C BRCA2 9520 T>C (Y3098H) - BRCA2_000442 - kConFab variant classification: LCS - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
?/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Parent #1 - VUS g.32968861T>C g.32394724T>C Tyr3098His - BRCA2_000442 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
-/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Unknown ENIGMA benign g.32968861T>C g.32394724T>C Y3098H - BRCA2_000442 - - - rs41293521 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Unknown ENIGMA benign g.32968861T>C g.32394724T>C Y3098H - BRCA2_000442 - - - rs41293521 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Parent #1 - benign g.32968861T>C g.32394724T>C - - BRCA2_000442 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 = 0.00000349 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Guidigli 2013 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Unknown - benign g.32968861T>C g.32394724T>C - - BRCA2_000442 - - - rs41293521 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1162 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Unknown - VUS g.32968861T>C g.32394724T>C - - BRCA2_000442 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Unknown - VUS g.32968861T>C g.32394724T>C - - BRCA2_000442 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Unknown - VUS g.32968861T>C g.32394724T>C - - BRCA2_000442 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/- 25 c.9292T>C r.(?) p.(Tyr3098His) - Unknown - VUS g.32968861T>C g.32394724T>C - - BRCA2_000442 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-?/- - c.9292T>C r.(?) p.(Tyr3098His) - Unknown - likely benign g.32968861T>C g.32394724T>C BRCA2(NM_000059.3):c.9292T>C (p.Y3098H, p.(Tyr3098His)), BRCA2(NM_000059.4):c.9292T>C (p.Y3098H) - BRCA2_000442 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.9292T>C r.(?) p.(Tyr3098His) - Unknown - benign g.32968861T>C g.32394724T>C BRCA2(NM_000059.3):c.9292T>C (p.Y3098H, p.(Tyr3098His)), BRCA2(NM_000059.4):c.9292T>C (p.Y3098H) - BRCA2_000442 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.9292T>C r.(?) p.(Tyr3098His) - Unknown - benign g.32968861T>C g.32394724T>C BRCA2(NM_000059.3):c.9292T>C (p.Y3098H, p.(Tyr3098His)), BRCA2(NM_000059.4):c.9292T>C (p.Y3098H) - BRCA2_000442 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9292T>C r.(?) p.(Tyr3098His) - Parent #1 - VUS g.32968861T>C g.32394724T>C - - BRCA2_000442 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.9292T>C r.(?) p.(Tyr3098His) - Unknown - benign g.32968861T>C - BRCA2(NM_000059.3):c.9292T>C (p.Y3098H, p.(Tyr3098His)), BRCA2(NM_000059.4):c.9292T>C (p.Y3098H) - BRCA2_000442 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9292T>C r.(?) p.(Tyr3098His) - Parent #1 - NA g.32968861T>C - chr13_32968861_T_C - BRCA2_000442 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 - 24/60466 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 - 24 BRIDGES consortium
?/. - c.9292T>C r.(?) p.(Tyr3098His) - Parent #1 - NA g.32968861T>C - chr13_32968861_T_C - BRCA2_000442 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.9292T>C r.(?) p.(Tyr3098His) - Unknown - likely benign g.32968861T>C - BRCA2(NM_000059.3):c.9292T>C (p.Y3098H, p.(Tyr3098His)), BRCA2(NM_000059.4):c.9292T>C (p.Y3098H) - BRCA2_000442 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9292T>C r.(?) p.(Tyr3098His) - Unknown - benign g.32968861T>C - BRCA2(NM_000059.3):c.9292T>C (p.Y3098H, p.(Tyr3098His)), BRCA2(NM_000059.4):c.9292T>C (p.Y3098H) - BRCA2_000442 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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