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.

19 entries on 1 page. Showing entries 1 - 19.
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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     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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VIP     

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Panel size     

Owner     
-/- 12 c.6853A>G r.(=) p.(Ile2285Val) - Unknown - benign g.32918706A>G g.32344569A>G - - BRCA2_000170 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs56272235 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/? 12 c.6853A>G r.(?) p.(Ile2285Val) - Parent #1 - VUS g.32918706A>G g.32344569A>G - - BRCA2_000170 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
-/. 12 c.6853A>G r.(?) p.Ile2285Val - Unknown - NA g.32918706A>G g.32344569A>G I2285V - BRCA2_000170 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.6853A>G r.(?) p.Ile2285Val - Unknown - NA g.32918706A>G g.32344569A>G I2285V - BRCA2_000170 Histopathology; predicted neutral PubMed: Spearman 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 12 c.6853A>G r.(?) p.Ile2285Val - Unknown - NA g.32918706A>G g.32344569A>G - - BRCA2_000170 cell survival by crystal violet staining and CDDE; neutral PubMed: Warren 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 12 c.6853A>G r.(?) p.(Ile2285Val) - Unknown - benign g.32918706A>G g.32344569A>G - - BRCA2_000170 - shared by Quest Diagnostics - rs56272235 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 12 c.6853A>G r.(?) p.(Ile2285Val) - Unknown ENIGMA benign g.32918706A>G g.32344569A>G I2285V - BRCA2_000170 - - - rs56272235 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 12 c.6853A>G r.(?) p.(Ile2285Val) - Unknown ENIGMA benign g.32918706A>G g.32344569A>G I2285V - BRCA2_000170 - - - rs56272235 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 12 c.6853A>G r.(?) p.(Ile2285Val) - Parent #1 - benign g.32918706A>G g.32344569A>G - - BRCA2_000170 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 = 0.00000000026 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/- 12 c.6853A>G r.(?) p.(Ile2285Val) - Unknown - VUS g.32918706A>G g.32344569A>G - - BRCA2_000170 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-?/- - c.6853A>G r.(?) p.(Ile2285Val) - Unknown - likely benign g.32918706A>G g.32344569A>G BRCA2(NM_000059.3):c.6853A>G (p.I2285V, p.(Ile2285Val)), BRCA2(NM_000059.4):c.6853A>G (p.I2285V) - BRCA2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.6853A>G r.(?) p.(Ile2285Val) - Unknown - benign g.32918706A>G g.32344569A>G BRCA2(NM_000059.3):c.6853A>G (p.I2285V, p.(Ile2285Val)), BRCA2(NM_000059.4):c.6853A>G (p.I2285V) - BRCA2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.6853A>G r.(?) p.(Ile2285Val) - Unknown - benign g.32918706A>G g.32344569A>G BRCA2(NM_000059.3):c.6853A>G (p.I2285V, p.(Ile2285Val)), BRCA2(NM_000059.4):c.6853A>G (p.I2285V) - BRCA2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.6853A>G r.(?) p.(Ile2285Val) - Unknown - benign g.32918706A>G g.32344569A>G - - BRCA2_000170 - - - rs56272235 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.6853A>G r.(?) p.(Ile2285Val) - Parent #1 - NA g.32918706A>G - chr13_32918706_A_G - BRCA2_000170 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 - 17/60466 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 - 17 BRIDGES consortium
?/. - c.6853A>G r.(?) p.(Ile2285Val) - Parent #1 - NA g.32918706A>G - chr13_32918706_A_G - BRCA2_000170 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 - 9/53461 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 - 9 BRIDGES consortium
-/. - c.6853A>G r.(?) p.(Ile2285Val) - Unknown - benign g.32918706A>G - BRCA2(NM_000059.3):c.6853A>G (p.I2285V, p.(Ile2285Val)), BRCA2(NM_000059.4):c.6853A>G (p.I2285V) - BRCA2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6853A>G r.(?) p.(Ile2285Val) - Unknown - benign g.32918706A>G - BRCA2(NM_000059.3):c.6853A>G (p.I2285V, p.(Ile2285Val)), BRCA2(NM_000059.4):c.6853A>G (p.I2285V) - BRCA2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.6853A>G r.(?) p.(Ile2285Val) - Unknown - benign g.32918706A>G g.32344569A>G - - BRCA2_000170 - Nodo Argentina Varioma, unpublished - rs56272235 Germline - - - - - DNA SEQ - - BROVCA BR3033 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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