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.

76 entries on 1 page. Showing entries 1 - 76.
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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     
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 10 c.1395A>C r.(=) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
?/? 10 c.1395A>C r.(=) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
?/? 10 c.1395A>C r.(=) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Juul Wijnen
?/? 10 c.1395A>C r.(=) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
-/- 10 c.1395A>C r.(=) p.(=) - Parent #1 - benign g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
?/? 10 c.1395A>C r.(=) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C 1623A>C (465 Val to Val) - BRCA2_000529 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
?/? 10 c.1395A>C r.(=) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
?/? 10 c.1395A>C r.(=) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
?/? 10 c.1395A>C r.(=) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
?/? 10 c.1395A>C r.(=) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
?/? 10 c.1395A>C r.(=) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
?/? 10 c.1395A>C r.(=) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
?/. 10 c.1395A>C r.= p.= - Unknown - NA g.32907010A>C g.32332873A>C c.1395A>C - BRCA2_000529 splicing reporter minigene; no splicing defect PubMed: Théry 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1395A>C r.(=) p.(=) - Parent #1 - benign g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - rs11571641 Germline - F=1% (180samples), Ehlers - BIC - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/- 10 c.1395A>C r.(=) p.(=) - Unknown kConFab benign g.32907010A>C g.32332873A>C BRCA2 1623 A>C (V465V) - BRCA2_000529 - kConFab variant classification: PM - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
?/. 10 c.1395A>C r.(=) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P15-0863 - 1 Arjen Mensenkamp
?/. 10 c.1395A>C r.(=) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P14-2404 - 1 Arjen Mensenkamp
-?/. 10 c.1395A>C r.(?) p.(Val465=) - Unknown - likely benign g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Germline ? - - - - DNA SEQ - - BROVCA2 - - - - - - - - - - - 1 Naomi Bowers
?/. 10 c.1395A>C r.(=) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Unknown - - - - - DNA SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Rien Blok
?/. 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 10 c.1395A>C r.(?) p.(=) - Unknown - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-?/. - c.1395A>C r.(?) p.(Val465=) - Unknown - likely benign g.32907010A>C g.32332873A>C BRCA2(NM_000059.3):c.1395A>C (p.V465=, p.(Val465=), p.Val465=), BRCA2(NM_000059.4):c.1395A>C (p.V465=) - BRCA2_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1395A>C r.(?) p.(Val465=) - Unknown - likely benign g.32907010A>C g.32332873A>C BRCA2(NM_000059.3):c.1395A>C (p.V465=, p.(Val465=), p.Val465=), BRCA2(NM_000059.4):c.1395A>C (p.V465=) - BRCA2_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1395A>C r.(?) p.(Val465=) - Unknown - likely benign g.32907010A>C g.32332873A>C BRCA2(NM_000059.3):c.1395A>C (p.V465=, p.(Val465=), p.Val465=), BRCA2(NM_000059.4):c.1395A>C (p.V465=) - BRCA2_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1395A>C r.(?) p.(Val465=) - Unknown - likely benign g.32907010A>C g.32332873A>C BRCA2(NM_000059.3):c.1395A>C (p.V465=, p.(Val465=), p.Val465=), BRCA2(NM_000059.4):c.1395A>C (p.V465=) - BRCA2_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1395A>C r.(?) p.(Val465=) - Unknown - likely benign g.32907010A>C g.32332873A>C BRCA2(NM_000059.3):c.1395A>C (p.V465=, p.(Val465=), p.Val465=), BRCA2(NM_000059.4):c.1395A>C (p.V465=) - BRCA2_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1395A>C r.(?) p.(=) - Parent #1 - VUS g.32907010A>C g.32332873A>C - - BRCA2_000529 classified as class 1, 2, 3, 4 or 5 in 14/25800 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 - 14 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 14 UK Variant Sharing Initiative
-?/. - c.1395A>C r.(?) p.(Val465=) - Unknown - likely benign g.32907010A>C - BRCA2(NM_000059.3):c.1395A>C (p.V465=, p.(Val465=), p.Val465=), BRCA2(NM_000059.4):c.1395A>C (p.V465=) - BRCA2_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1395A>C r.(?) p.(Val465=) - Unknown - likely benign g.32907010A>C - BRCA2(NM_000059.3):c.1395A>C (p.V465=, p.(Val465=), p.Val465=), BRCA2(NM_000059.4):c.1395A>C (p.V465=) - BRCA2_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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