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.

103 entries on 2 pages. Showing entries 1 - 100.
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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     
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13i c.7008-62A>G r.(=) p.(=) - Parent #1 - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
?/? 13i c.7008-62A>G r.(=) p.(=) - Parent #1 - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
?/? 13i c.7008-62A>G r.(=) p.(=) - Parent #1 - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/? 13i c.7008-62A>G r.(=) p.(=) - Parent #1 - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/? 13i c.7008-62A>G r.(=) p.(=) - Parent #1 - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
-/- 13i c.7008-62A>G r.(=) p.(=) - Parent #1 - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 13i c.7008-62A>G r.(=) p.(=) - Parent #1 - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 13i c.7008-62A>G r.(=) p.(=) - Parent #1 - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-?/. 13i c.7008-62A>G r.(=) IVS13-62A>G - Parent #1 - NA g.32928936A>G g.32354799A>G - - BRCA2_000178 co-ocurrence; neutral PubMed: Caputo 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 13i c.7008-62A>G r.(?) ? - Unknown - NA g.32928936A>G g.32354799A>G IVS13-62A/G - BRCA2_000178 - PubMed: Tommasi 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 13i c.7008-62A>G r.(=) ? - Unknown - NA g.32928936A>G g.32354799A>G IVS13-62A/G - BRCA2_000178 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/? 13i c.7008-62A>G r.(=) p.(=) - Unknown kConFab VUS g.32928936A>G g.32354799A>G BRCA2 IVS 13-62 A>G - BRCA2_000178 - kConFab variant classification: DIV - - Germline - 3/1658 - - - DNA SEQ - - cancer, breast - - 3 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 3 kConFab - Heather Thorne
-?/- 13i c.7008-62A>G r.(?) p.(=) - Unknown - likely benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown ENIGMA benign g.32928936A>G g.32354799A>G IVS13-62A>G - BRCA2_000178 - - - rs76584943 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown ENIGMA benign g.32928936A>G g.32354799A>G IVS13-62A>G - BRCA2_000178 - - - rs76584943 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR0384 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0851 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0950 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR1123 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1265 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR1462 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR2111 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR1419 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0589 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR2105 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0404 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0535 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0774 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR1196 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR1378 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0464 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0987 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR1287 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR0373 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0461 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0543 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR2073 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - DIAR1 - - - - - Sweden - - - - - 2 Ivo F.A.C. Fokkema
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0567 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0966 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR2080 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0419 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR1004 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1129 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1366 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR2065 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR1193 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0647 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR1379 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR1386 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR0570 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 34/1900 cases - - - DNA SEQ - - cancer, breast BR1176 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/? 13i c.7008-62A>G r.(?) p.(=) - Parent #1 - VUS g.32928936A>G g.32354799A>G IVS13-62A>G - BRCA2_000178 - PubMed: Torres 2007 - - Germline - 1/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam6 PubMed: Torres 2007 family, 6 affecteds - - Colombia Hispanic - - - - 6 Johan den Dunnen
?/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - VUS g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-/. 13i c.7008-62A>G r.(?) p.(=) - Parent #1 - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 36/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - 36/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 13i c.7008-62A>G r.(?) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G - - BRCA2_000178 - - - rs76584943 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.7008-62A>G r.(=) p.(=) - Unknown - benign g.32928936A>G g.32354799A>G BRCA2(NM_000059.3):c.7008-62A>G - BRCA2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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