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.

119 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     
+/+ 11 c.5645C>A r.(?) p.(Ser1182*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5645C>A r.(?) p.(Ser1182*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.5645C>A r.(?) p.(Ser1182*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Erik Teugels
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
?/. 11 c.5645C>A r.(?) p.Ser1882* - Unknown - NA g.32914137C>A g.32340000C>A S1882X - BRCA2_000141 - PubMed: Peelen 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - Pölsler et al. 2015, submitted - - Germline - 1/238 patients - - - DNA SEQ Leukocytes - BROVCA2 - Pölsler 2015, submitted - F no (Austria) - - - - - 1 Raphael Johannes Morscher
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown kConFab pathogenic g.32914137C>A g.32340000C>A BRCA2 5873 C>A (S1882X) - BRCA2_000141 - kConFab variant classification: P - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA SEQ-NG FFPE normal tissue - cancer, breast - - - ? - Denmark white ? - - - 1 Mads Malik Aagaard Jørgensen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 2 families (BRCA1/2 screening) - - Greece - - - - - 2 Florentia Fostira
+/+ 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic (dominant) g.32914137C>A g.32340000C>A - - BRCA2_000141 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA MIPsm, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA MIPsm, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA MIPsm, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. - c.5645C>A r.(?) p.(Ser1882Ter) - Unknown - pathogenic g.32914137C>A g.32340000C>A BRCA2(NM_000059.3):c.5645C>A (p.S1882*, p.(Ser1882Ter)), BRCA2(NM_000059.4):c.5645C>A (p.S1882*) - BRCA2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5645C>A r.(?) p.(Ser1882Ter) - Unknown - pathogenic g.32914137C>A g.32340000C>A BRCA2(NM_000059.3):c.5645C>A (p.S1882*, p.(Ser1882Ter)), BRCA2(NM_000059.4):c.5645C>A (p.S1882*) - BRCA2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5645C>A r.(?) p.(Ser1882Ter) - Unknown - pathogenic g.32914137C>A g.32340000C>A BRCA2(NM_000059.3):c.5645C>A (p.S1882*, p.(Ser1882Ter)), BRCA2(NM_000059.4):c.5645C>A (p.S1882*) - BRCA2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5645C>A r.(?) p.(Ser1882Ter) - Unknown - pathogenic g.32914137C>A g.32340000C>A BRCA2(NM_000059.3):c.5645C>A (p.S1882*, p.(Ser1882Ter)), BRCA2(NM_000059.4):c.5645C>A (p.S1882*) - BRCA2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5645C>A r.(?) p.(Ser1882Ter) - Unknown - pathogenic g.32914137C>A g.32340000C>A BRCA2(NM_000059.3):c.5645C>A (p.S1882*, p.(Ser1882Ter)), BRCA2(NM_000059.4):c.5645C>A (p.S1882*) - BRCA2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Unknown - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - - - DNA SEQ-NG - - BROVCA 29176636-Pat PubMed: Arai 2018, Journal: Arai 2018 analysis 860 breast/ovarian cancer pedigrees - - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Austria white - - - - 5 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Canada white - - - - 2 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Czech Republic white - - - - 4 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Denmark white - - - - 4 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - France white - - - - 8 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 12 families F - France unknown - - - - 12 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Germany white - - - - 5 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 18 families F - Germany unknown - - - - 18 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Hungary white - - - - 2 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Italy white - - - - 2 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Japan Asian - - - - 1 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Korea Asian - - - - 1 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Malaysia Asian - - - - 1 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Portugal white - - - - 2 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Singapore Asian - - - - 1 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Sweden white - - - - 1 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United Kingdom (Great Britain) white - - - - 3 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - United States unknown - - - - 5 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 10 families F - United States white - - - - 10 Johan den Dunnen
+/. 11 c.5645C>A r.(?) p.(Ser1882*) - Parent #1 - pathogenic g.32914137C>A g.32340000C>A - - BRCA2_000141 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80358785 Germline - 5/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 5 Yukihide Momozawa
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