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.

38 entries on 1 page. Showing entries 1 - 38.
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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     
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C V2820V - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 19 c.8460A>C r.(?) p.(=) - Unknown - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 19 c.8460A>C r.(=) p.(=) - Parent #1 - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/. 19 c.8460A>C r.= p.= - Unknown - NA g.32944667A>C g.32370530A>C c.8460A>C - BRCA2_000534 splicing reporter minigene/patient RNA analysis; no splicing defect PubMed: Théry 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 19 c.8460A>C r.(=) p.(=) - Unknown - benign g.32944667A>C g.32370530A>C - - BRCA2_000534 - shared by Quest Diagnostics - rs9590940 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- - c.8460A>C r.(=) p.(=) - Parent #1 - benign g.32944667A>C g.32370530A>C - - BRCA2_000534 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/- 19 c.8460A>C r.(?) p.(=) - Parent #1 - benign g.32944667A>C g.32370530A>C - - BRCA2_000534 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.04675 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.8460A>C r.(?) p.(Val2820=) - Unknown - benign g.32944667A>C g.32370530A>C BRCA2(NM_000059.3):c.8460A>C (p.V2820=, p.(Val2820=)), BRCA2(NM_000059.4):c.8460A>C (p.V2820=) - BRCA2_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8460A>C r.(?) p.(Val2820=) - Unknown - benign g.32944667A>C g.32370530A>C BRCA2(NM_000059.3):c.8460A>C (p.V2820=, p.(Val2820=)), BRCA2(NM_000059.4):c.8460A>C (p.V2820=) - BRCA2_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8460A>C r.(?) p.(Val2820=) - Unknown - benign g.32944667A>C g.32370530A>C BRCA2(NM_000059.3):c.8460A>C (p.V2820=, p.(Val2820=)), BRCA2(NM_000059.4):c.8460A>C (p.V2820=) - BRCA2_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8460A>C r.(?) p.(Val2820=) - Unknown - benign g.32944667A>C g.32370530A>C BRCA2(NM_000059.3):c.8460A>C (p.V2820=, p.(Val2820=)), BRCA2(NM_000059.4):c.8460A>C (p.V2820=) - BRCA2_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8460A>C r.(?) p.(Val2820=) - Unknown - benign g.32944667A>C g.32370530A>C BRCA2(NM_000059.3):c.8460A>C (p.V2820=, p.(Val2820=)), BRCA2(NM_000059.4):c.8460A>C (p.V2820=) - BRCA2_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8460A>C r.(?) p.(=) - Parent #1 - VUS g.32944667A>C g.32370530A>C - - BRCA2_000534 classified as class 1, 2, 3, 4 or 5 in 2/25800 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 - 2 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 2 UK Variant Sharing Initiative
-/. - c.8460A>C r.(?) p.(Val2820=) - Unknown - benign g.32944667A>C - BRCA2(NM_000059.3):c.8460A>C (p.V2820=, p.(Val2820=)), BRCA2(NM_000059.4):c.8460A>C (p.V2820=) - BRCA2_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.8460A>C r.(?) p.(Val2820=) - Unknown - benign g.32944667A>C g.32370530A>C - - BRCA2_000534 - Nodo Argentina Varioma, unpublished - rs9590940 Germline - - - - - DNA SEQ - - BROVCA BR3294 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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