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.

98 entries on 1 page. Showing entries 1 - 98.
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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     
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 23 c.9117G>A r.spl p.(Pro3039=) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 23 c.9117G>A r.spl p.(Pro3039=) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 23 c.9117G>A r.spl p.(Pro3039=) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 23 c.9117G>A r.8954_9117del p.Val2985Glyfs*4 - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 23 c.9117G>A r.spl? p.(?) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A 9345G>A (3039 Pro to Pro) - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
+/+ 23 c.9117G>A r.(=) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
+/+ 23 c.9117G>A r.(=) p.(=) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/. 23 c.9117G>A r.8954_9117del p.? - Unknown - pathogenic (dominant) g.32954050G>A g.32379913G>A P3039P - BRCA2_000406 - PubMed: Bonatti 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - cancer, breast Fam1PI184 PubMed: Bonatti 2006 family - - Italy - - - - - 1 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.Pro3039Pro - Unknown - NA g.32954050G>A g.32379913G>A P3039P - BRCA2_000406 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 23 c.9117G>A r.(?) p.Pro3039Pro - Unknown - NA g.32954050G>A g.32379913G>A P3039P - BRCA2_000406 - PubMed: Peelen 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 23 c.9117G>A r.(?) p.Val2985Glyfs*4 - Unknown - NA g.32954050G>A g.32379913G>A 9345G>A - BRCA2_000406 Multifactorial likelihood-ratio model; inconclusive PubMed: Spurdle 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 23 c.9117G>A r.(=) p.(=) - Unknown kConFab pathogenic g.32954050G>A g.32379913G>A BRCA2 9345 G>A (splice variant) - BRCA2_000406 - kConFab variant classification: P - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
+/. 23 c.9117G>A r.(=) p.(=) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Germline - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium white - - - - 1 Kathleen Claes
+/. 23 c.9117G>A r.(?) p.(=) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. - c.9117G>A r.(?) p.(Pro3039=) - Unknown - pathogenic g.32954050G>A g.32379913G>A BRCA2(NM_000059.3):c.9117G>A (p.P3039=, p.Pro3039=), BRCA2(NM_000059.4):c.9117G>A (p.P3039=) - BRCA2_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9117G>A r.(?) p.(Pro3039=) - Unknown - pathogenic g.32954050G>A g.32379913G>A BRCA2(NM_000059.3):c.9117G>A (p.P3039=, p.Pro3039=), BRCA2(NM_000059.4):c.9117G>A (p.P3039=) - BRCA2_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9117G>A r.(?) p.(Pro3039=) - Unknown - pathogenic g.32954050G>A g.32379913G>A BRCA2(NM_000059.3):c.9117G>A (p.P3039=, p.Pro3039=), BRCA2(NM_000059.4):c.9117G>A (p.P3039=) - BRCA2_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9117G>A r.(?) p.(Pro3039=) - Unknown - pathogenic g.32954050G>A g.32379913G>A BRCA2(NM_000059.3):c.9117G>A (p.P3039=, p.Pro3039=), BRCA2(NM_000059.4):c.9117G>A (p.P3039=) - BRCA2_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 23 c.9117G>A r.8954_9117del p.Val2985Glyfs*4 - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - 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 - - - - - 4 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Austria white - - - - 1 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France unknown - - - - 1 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - France white - - - - 3 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - 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
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 21 families F - Germany unknown - - - - 21 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - Italy white - - - - 8 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - 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
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Spain white - - - - 3 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United Kingdom (Great Britain) white - - - - 4 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Asian - - - - 1 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States unknown - - - - 1 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States Hispanic - - - - 2 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 12 families F - United States white - - - - 12 Johan den Dunnen
+/. 23 c.9117G>A r.spl p.(Pro3039=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs28897756 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
+/. 23 c.9117G>A r.spl p.(Pro3039=) - Unknown - pathogenic g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Cvelbar 2017 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Cvelbar 2017 families F - Slovenia - - - - - 1 Johan den Dunnen
+/. 23 c.9117G>A r.spl p.(Pro3039=) - Unknown - pathogenic g.32954050G>A g.32379913G>A 9345G>A - BRCA2_000406 - Laitman, submitted - rs28897756 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Italy - - - - - 1 Eitan Friedman
+/. - c.9117G>A r.(?) p.(=) - Parent #1 - pathogenic g.32954050G>A g.32379913G>A G9117A, 9345G>A, 9117G>A - BRCA2_000406 - PubMed: Bhaskaran 2019 - (refs 74, 79, 90) - rs28897756 Germline - 7/9041 cases - - - DNA SEQ-NG, SEQ - - cancer, breast BRCA1-var497 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 7 Johan den Dunnen
+/. - c.9117G>A r.spl p.(Pro3039=) - Parent #1 - pathogenic (dominant) g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
+/. 23 c.9117G>A r.(?) p.(=) - Unknown - pathogenic (dominant) g.32954050G>A g.32379913G>A - - BRCA2_000406 - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017, Wei 2017 - - Germline - 6 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017, Wei 2017 breast/ovarian cancer families/patients - - China - - - - - 6 Xianqi Gao
?/. - c.9117G>A r.(?) p.(=) - Parent #1 - VUS g.32954050G>A g.32379913G>A - - BRCA2_000406 classified as class 3, 4 or 5 in 1/25800 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 - 1 case - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 1 UK Variant Sharing Initiative
+/. - c.9117G>A r.(?) p.(Pro3039=) - Unknown - pathogenic g.32954050G>A - BRCA2(NM_000059.3):c.9117G>A (p.P3039=, p.Pro3039=), BRCA2(NM_000059.4):c.9117G>A (p.P3039=) - BRCA2_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 23 c.9117G>A r.(?) p.(Pro3039=) - Unknown - pathogenic (dominant) g.32954050G>A g.32379913G>A 9117G>A - BRCA2_000406 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 231 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. - c.9117G>A r.spl p.? - Unknown ACMG pathogenic (dominant) g.32954050G>A g.32379913G>A - - BRCA2_000406 - - 38215 - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_11 - - F - Brazil - - - - - 1 Giovana Torrezan
+/. - c.9117G>A r.(?) p.(Pro3039=) - Unknown - pathogenic g.32954050G>A - BRCA2(NM_000059.3):c.9117G>A (p.P3039=, p.Pro3039=), BRCA2(NM_000059.4):c.9117G>A (p.P3039=) - BRCA2_000406 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 23 c.9117G>A r.spl p.? - Unknown - likely pathogenic (dominant) g.32954050G>A g.32379913G>A - - BRCA2_000406 - PubMed: Van Der Merwe 2022 - rs28897756 Germline - - - - - DNA SEQ - - BROVCA family PubMed: Van Der Merwe 2022 1 family F - South Africa - - - - - 1 Johan den Dunnen
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