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.

43 entries on 1 page. Showing entries 1 - 43.
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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     
+/+ 11 c.4449del r.(?) p.(Asp1484fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.4449del r.(?) p.(Asp1484fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.4449del r.(?) p.(Asp1484fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.4449del r.(?) p.(Thr1483fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.4449del r.(?) p.(Thr1483fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.4449del r.(?) p.(Thr1483fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.4449del r.(?) p.(Thr1483fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.4449del r.(?) p.(Thr1483fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.4449del r.(?) p.(Thr1483fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.4449del r.(?) p.(Thr1483fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.4449del r.(?) p.(Asp1484fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.4449del r.(?) p.(Asp1484fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.4449del r.(?) p.(Asp1484fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.4449del r.(?) p.(Thr1483fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.4449del r.(?) p.(Thr1483fs) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Parent #1 - pathogenic g.32912941del g.32338804del 4449delA - BRCA2_001679 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. - c.4449del r.(?) p.(Asp1484Thrfs*2) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Leegte 2005 - F - (Netherlands) - - - - - 1 James Whitworth
+/+ 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Parent #1 - pathogenic g.32912941del g.32338804del - - BRCA2_001679 METHYL BRCA1 - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P13-1372 - 1 Arjen Mensenkamp
+/+ 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Parent #1 - pathogenic (dominant) g.32912941del g.32338804del - - BRCA2_001679 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Unknown - pathogenic g.32912941del g.32338804del c.4449delA - BRCA2_001679 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Unknown - pathogenic g.32912941del g.32338804del 4449delA - BRCA2_001679 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Unknown - pathogenic g.32912941del g.32338804del 4449delA - BRCA2_001679 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Unknown - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. - c.4449del r.(?) p.(Asp1484ThrfsTer2) - Unknown - pathogenic g.32912941del g.32338804del BRCA2(NM_000059.3):c.4449del (p.(Asp1484ThrfsTer2)), BRCA2(NM_000059.3):c.4449delA (p.Asp1484Thrfs*2), BRCA2(NM_000059.3):c.4449delA (p.D1484Tfs*2)... - BRCA2_001679 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4449del r.(?) p.(Asp1484ThrfsTer2) - Unknown - pathogenic g.32912941del g.32338804del BRCA2(NM_000059.3):c.4449del (p.(Asp1484ThrfsTer2)), BRCA2(NM_000059.3):c.4449delA (p.Asp1484Thrfs*2), BRCA2(NM_000059.3):c.4449delA (p.D1484Tfs*2)... - BRCA2_001679 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4449del r.(?) p.(Asp1484ThrfsTer2) - Unknown - pathogenic g.32912941del g.32338804del BRCA2(NM_000059.3):c.4449del (p.(Asp1484ThrfsTer2)), BRCA2(NM_000059.3):c.4449delA (p.Asp1484Thrfs*2), BRCA2(NM_000059.3):c.4449delA (p.D1484Tfs*2)... - BRCA2_001679 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4449del r.(?) p.(Asp1484ThrfsTer2) - Unknown - pathogenic g.32912941del g.32338804del BRCA2(NM_000059.3):c.4449del (p.(Asp1484ThrfsTer2)), BRCA2(NM_000059.3):c.4449delA (p.Asp1484Thrfs*2), BRCA2(NM_000059.3):c.4449delA (p.D1484Tfs*2)... - BRCA2_001679 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Parent #1 - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada unknown - - - - 1 Johan den Dunnen
+/. 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Parent #1 - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Canada white - - - - 2 Johan den Dunnen
+/. 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Parent #1 - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France white - - - - 1 Johan den Dunnen
+/. 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Parent #1 - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 14 families F - Germany unknown - - - - 14 Johan den Dunnen
+/. 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Parent #1 - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Spain white - - - - 2 Johan den Dunnen
+/. 11 c.4449del r.(?) p.(Asp1484Thrfs*2) - Parent #1 - pathogenic g.32912941del g.32338804del - - BRCA2_001679 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States white - - - - 2 Johan den Dunnen
?/. - c.4449del r.(?) p.(Asp1484Thrfs*2) - Parent #1 - NA g.32912941del - chr13_32912940_CA_C - BRCA2_001679 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 - 1/60466 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 - 1 BRIDGES consortium
?/. - c.4449del r.(?) p.(Asp1484Thrfs*2) - Parent #1 - NA g.32912941del - chr13_32912940_CA_C - BRCA2_001679 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 - 1/53461 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 - 1 BRIDGES consortium
+/. 11 c.4449del r.(?) p.(Asp1484ThrfsTer2) - Unknown - pathogenic (dominant) g.32912941del g.32338804del 4449delA - BRCA2_001679 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 107 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.4449del r.(?) p.(Asp1484ThrfsTer2) - Unknown - pathogenic (dominant) g.32912941del g.32338804del 4449delA - BRCA2_001679 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 154 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.4449del r.(?) p.(Asp1484ThrfsTer2) - Unknown - pathogenic (dominant) g.32912941del g.32338804del 4449delA - BRCA2_001679 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 176 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.4449del r.(?) p.(Asp1484ThrfsTer2) - Unknown - pathogenic (dominant) g.32912941del g.32338804del 4449delA - BRCA2_001679 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 189 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.4449del r.(?) p.(Asp1484ThrfsTer2) - Unknown - pathogenic (dominant) g.32912941del g.32338804del 4449delA - BRCA2_001679 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 236 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. - c.4449del r.(?) p.(Asp1484ThrfsTer2) - Unknown - pathogenic g.32912941del - BRCA2(NM_000059.3):c.4449del (p.(Asp1484ThrfsTer2)), BRCA2(NM_000059.3):c.4449delA (p.Asp1484Thrfs*2), BRCA2(NM_000059.3):c.4449delA (p.D1484Tfs*2)... - BRCA2_001679 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4449del r.(?) p.(Asp1484ThrfsTer2) - Unknown - pathogenic g.32912941del - BRCA2(NM_000059.3):c.4449del (p.(Asp1484ThrfsTer2)), BRCA2(NM_000059.3):c.4449delA (p.Asp1484Thrfs*2), BRCA2(NM_000059.3):c.4449delA (p.D1484Tfs*2)... - BRCA2_001679 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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