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.

53 entries on 1 page. Showing entries 1 - 53.
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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     
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Parent #1 - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Parent #1 - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Parent #1 - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - UMCG 2014/5701 - 1 Arjen Mensenkamp
+/. 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P13-4735 - 1 Arjen Mensenkamp
+/. 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - UMCG 2015-2033 - 1 Arjen Mensenkamp
+/. 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P15-3048 - 1 Arjen Mensenkamp
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Parent #1 - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 3 c.100G>T r.(?) p.(Glu34*) - Parent #1 - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 3 c.100G>T r.(?) p.(Glu34*) - Parent #1 - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 3 c.100G>T r.(?) p.(Glu34*) - Parent #1 - pathogenic (dominant) g.32893246G>T g.32319109G>T - - BRCA2_001301 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T c.100G>T - BRCA2_001301 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T c.100G>T - BRCA2_001301 - - - - Germline - - - - - DNA SEQ, MLPA - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 3 c.100G>T r.(?) p.(Glu34*) - Unknown - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. - c.100G>T r.(?) p.(Glu34Ter) - Unknown - pathogenic g.32893246G>T g.32319109G>T BRCA2(NM_000059.3):c.100G>T (p.Glu34*), BRCA2(NM_000059.4):c.100G>T (p.E34*) - BRCA2_001301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.100G>T r.(?) p.(Glu34Ter) - Unknown - pathogenic g.32893246G>T g.32319109G>T BRCA2(NM_000059.3):c.100G>T (p.Glu34*), BRCA2(NM_000059.4):c.100G>T (p.E34*) - BRCA2_001301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.100G>T r.(?) p.(Glu34Ter) - Unknown - pathogenic g.32893246G>T g.32319109G>T BRCA2(NM_000059.3):c.100G>T (p.Glu34*), BRCA2(NM_000059.4):c.100G>T (p.E34*) - BRCA2_001301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.100G>T r.(?) p.(Glu34*) - Parent #1 - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany unknown - - - - 1 Johan den Dunnen
+/. 3 c.100G>T r.(?) p.(Glu34*) - Parent #1 - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United Kingdom (Great Britain) unknown - - - - 2 Johan den Dunnen
+/. 3 c.100G>T r.(?) p.(Glu34*) - Parent #1 - pathogenic g.32893246G>T g.32319109G>T - - BRCA2_001301 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States white - - - - 1 Johan den Dunnen
?/. - c.100G>T r.(?) p.(Glu34*) - Parent #1 - VUS g.32893246G>T g.32319109G>T - - BRCA2_001301 classified as class 3, 4 or 5 in 3/12850 targeted tests and 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 - 4 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 4 UK Variant Sharing Initiative
?/. - c.100G>T r.(?) p.(Glu34*) - Parent #1 - NA g.32893246G>T - chr13_32893246_G_T - BRCA2_001301 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 - 2/60466 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 - 2 BRIDGES consortium
?/. - c.100G>T r.(?) p.(Glu34*) - Parent #1 - NA g.32893246G>T - chr13_32893246_G_T - BRCA2_001301 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
+/. 3 c.100G>T r.(?) p.(Glu34Ter) - Unknown - pathogenic (dominant) g.32893246G>T g.32319109G>T 100G>T - BRCA2_001301 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 170 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 3 c.100G>T r.(?) p.(Glu34Ter) - Unknown - pathogenic (dominant) g.32893246G>T g.32319109G>T 100G>T - BRCA2_001301 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 175 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 3 c.100G>T r.(?) p.(Glu34Ter) - Unknown - pathogenic (dominant) g.32893246G>T g.32319109G>T 100G>T - BRCA2_001301 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 214 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 3 c.100G>T r.(?) p.(Glu34Ter) - Unknown - pathogenic (dominant) g.32893246G>T g.32319109G>T 100G>T - BRCA2_001301 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 263 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 3 c.100G>T r.(?) p.(Glu34Ter) - Unknown - pathogenic (dominant) g.32893246G>T g.32319109G>T 100G>T - BRCA2_001301 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 312 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. - c.100G>T r.(?) p.(Glu34Ter) - Unknown - pathogenic g.32893246G>T - BRCA2(NM_000059.3):c.100G>T (p.Glu34*), BRCA2(NM_000059.4):c.100G>T (p.E34*) - BRCA2_001301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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