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.

25 entries on 1 page. Showing entries 1 - 25.
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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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/- 20 c.8525G>A r.(?) p.(Arg2842His) - Unknown - VUS g.32945130G>A g.32370993G>A - - BRCA2_000341 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
-/- 20 c.8525G>A r.(=) p.(Arg2842His) - Unknown - benign g.32945130G>A g.32370993G>A - - BRCA2_000341 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs80359105 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/- 20 c.8525G>A r.(?) p.(Arg2842His) - Parent #1 - VUS g.32945130G>A g.32370993G>A - - BRCA2_000341 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
?/- 20 c.8525G>A r.(?) p.(Arg2842His) - Parent #1 - VUS g.32945130G>A g.32370993G>A - - BRCA2_000341 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
?/- 20 c.8525G>A r.(?) p.(Arg2842His) - Unknown - VUS g.32945130G>A g.32370993G>A - - BRCA2_000341 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
-/. 20 c.8525G>A r.(?) p.Arg2842His - Unknown - NA g.32945130G>A g.32370993G>A R2842H - BRCA2_000341 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 20 c.8525G>A r.(?) p.Arg2842His - Unknown - NA g.32945130G>A g.32370993G>A R2842H - BRCA2_000341 Protein likelihood ratio model; inconclusive PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 20 c.8525G>A r.(?) p.(Arg2842His) - Unknown - benign g.32945130G>A g.32370993G>A - - BRCA2_000341 - shared by Quest Diagnostics - rs80359105 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 20 c.8525G>A r.(?) p.(Arg2842His) - Unknown - benign g.32945130G>A g.32370993G>A - - BRCA2_000341 - - - rs80359105 Germline - - - - - DNA SEQ-NG - - cancer, breast - - - F - Malaysia Asian Chinese - - Yes - 1 Soo Hwang Teo
-/- 20 c.8525G>A r.(?) p.(Arg2842His) - Unknown - benign g.32945130G>A g.32370993G>A - - BRCA2_000341 - - - rs80359105 Germline - - - - - DNA SEQ-NG - - cancer, ovarian - - - F - Malaysia Asian Chinese - - Yes - 1 Soo Hwang Teo
-/- 20 c.8525G>A r.(?) p.(Arg2842His) - Parent #1 - benign g.32945130G>A g.32370993G>A - - BRCA2_000341 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 = 0.000259 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/- 20 c.8525G>A r.(?) p.(Arg2842His) - Unknown - VUS g.32945130G>A g.32370993G>A - - BRCA2_000341 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/- 20 c.8525G>A r.(?) p.(Arg2842His) - Unknown - VUS g.32945130G>A g.32370993G>A - - BRCA2_000341 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-/- - c.8525G>A r.(?) p.(Arg2842His) - Unknown - benign g.32945130G>A g.32370993G>A BRCA2(NM_000059.3):c.8525G>A (p.R2842H, p.(Arg2842His), p.Arg2842His), BRCA2(NM_000059.4):c.8525G>A (p.R2842H) - BRCA2_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/- - c.8525G>A r.(?) p.(Arg2842His) - Unknown - likely benign g.32945130G>A g.32370993G>A BRCA2(NM_000059.3):c.8525G>A (p.R2842H, p.(Arg2842His), p.Arg2842His), BRCA2(NM_000059.4):c.8525G>A (p.R2842H) - BRCA2_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.8525G>A r.(?) p.(Arg2842His) - Unknown - benign g.32945130G>A g.32370993G>A BRCA2(NM_000059.3):c.8525G>A (p.R2842H, p.(Arg2842His), p.Arg2842His), BRCA2(NM_000059.4):c.8525G>A (p.R2842H) - BRCA2_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.8525G>A r.(?) p.(Arg2842His) - Unknown - benign g.32945130G>A g.32370993G>A BRCA2(NM_000059.3):c.8525G>A (p.R2842H, p.(Arg2842His), p.Arg2842His), BRCA2(NM_000059.4):c.8525G>A (p.R2842H) - BRCA2_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8525G>A r.(?) p.(Arg2842His) - Parent #1 - benign g.32945130G>A g.32370993G>A - - BRCA2_000341 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359105 Germline - 1/12477 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
-?/. 20 c.8525G>A r.(?) p.(Arg2842His) - Unknown - likely benign g.32945130G>A g.32370993G>A - - BRCA2_000341 - Journal: Gao 2020 as reported in: PubMed: Kwong 2016, Journal: Kwong 2016 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Kwong 2016, Journal: Kwong 2016 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
-/. - c.8525G>A r.(?) p.(Arg2842His) - Unknown - benign g.32945130G>A - BRCA2(NM_000059.3):c.8525G>A (p.R2842H, p.(Arg2842His), p.Arg2842His), BRCA2(NM_000059.4):c.8525G>A (p.R2842H) - BRCA2_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8525G>A r.(?) p.(Arg2842His) - Parent #1 - NA g.32945130G>A - chr13_32945130_G_A - BRCA2_000341 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 - 10/60466 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 - 10 BRIDGES consortium
?/. - c.8525G>A r.(?) p.(Arg2842His) - Parent #1 - NA g.32945130G>A - chr13_32945130_G_A - BRCA2_000341 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 - 11/53461 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 - 11 BRIDGES consortium
-/. - c.8525G>A r.(?) p.(Arg2842His) - Parent #1 - benign g.32945130G>A g.32370993G>A - - BRCA2_000341 - PubMed: Dong 2021 - rs80359105 Germline - 4/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 2F/2M F;M - China - - - - - 4 Johan den Dunnen
-/. - c.8525G>A r.(?) p.(Arg2842His) - Unknown - benign g.32945130G>A - BRCA2(NM_000059.3):c.8525G>A (p.R2842H, p.(Arg2842His), p.Arg2842His), BRCA2(NM_000059.4):c.8525G>A (p.R2842H) - BRCA2_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8525G>A r.(?) p.(Arg2842His) - Unknown - benign g.32945130G>A - BRCA2(NM_000059.3):c.8525G>A (p.R2842H, p.(Arg2842His), p.Arg2842His), BRCA2(NM_000059.4):c.8525G>A (p.R2842H) - BRCA2_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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