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.

60 entries on 1 page. Showing entries 1 - 60.
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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     
?/? 24i c.9257-83G>A r.(?) p.(=) - Unknown - VUS g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 24i c.9257-83G>A r.(?) p.(=) - Unknown - VUS g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 24i c.9257-83G>A r.(?) p.(=) - Unknown - VUS g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 24i c.9257-83G>A r.(?) p.(=) - Unknown - VUS g.32968743G>A g.32394606G>A IVS24-83G>A - BRCA2_000543 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/. 24i c.9257-83G>A r.= ? - Unknown - NA g.32968743G>A g.32394606G>A c.9257-83G>A - BRCA2_000543 splicing reporter minigene/patient RNA analysis; no splicing defect PubMed: Théry 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 24i c.9257-83G>A r.(=) p.(=) - Unknown kConFab benign g.32968743G>A g.32394606G>A BRCA2 IVS 24-83 G>A - BRCA2_000543 - kConFab variant classification: PM - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown ENIGMA benign g.32968743G>A g.32394606G>A IVS24-83G>A - BRCA2_000543 - - - rs9595456 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown ENIGMA benign g.32968743G>A g.32394606G>A IVS24-83G>A - BRCA2_000543 - - - rs9595456 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown ENIGMA benign g.32968743G>A g.32394606G>A IVS24-83G>A - BRCA2_000543 - - - rs9595456 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown ENIGMA benign g.32968743G>A g.32394606G>A IVS24-83G>A - BRCA2_000543 - - - rs9595456 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown ENIGMA benign g.32968743G>A g.32394606G>A IVS24-83G>A - BRCA2_000543 - - - rs9595456 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown ENIGMA benign g.32968743G>A g.32394606G>A IVS24-83G>A - BRCA2_000543 - - - rs9595456 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown ENIGMA benign g.32968743G>A g.32394606G>A IVS24-83G>A - BRCA2_000543 - - - rs9595456 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown ENIGMA benign g.32968743G>A g.32394606G>A IVS24-83G>A - BRCA2_000543 - - - rs9595456 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Parent #1 - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02972 (Asian), 0.1463 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1455 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0458 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0689 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1106 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0757 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0949 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0867 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0992 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0660 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1196 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1376 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0857 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0997 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1284 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0789 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0792 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1306 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0600 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0791 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1282 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1507 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0878 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1112 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1456 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1440 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1465 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2036 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0426 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0510 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0959 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1363 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0453 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0972 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR0743 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 39/1900 cases - - - DNA SEQ - - cancer, breast BR1199 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- - c.9257-83G>A r.(=) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A BRCA2(NM_000059.3):c.9257-83G>A - BRCA2_000543 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.9257-83G>A r.(=) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A BRCA2(NM_000059.3):c.9257-83G>A - BRCA2_000543 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast BR0993 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - 45/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 24i c.9257-83G>A r.(?) p.(=) - Unknown - benign g.32968743G>A g.32394606G>A - - BRCA2_000543 - - - rs9595456 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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