Full data view for gene BRCA2

All records describing functional studies of specific variants.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000059.3 transcript reference sequence.

31099 entries on 311 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

Haplotype     

Allele     

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     

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Age/Death     

VIP     

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Owner     
+/. 13i_24i c.(7007+1_7008-1)_(9256+1_9257-1)[3] r.? p.? pathogenic - Parent #1 g.(32921034_32928997)_(32954283_32968825)[3] - c.7008-?_9256+?[3] - BRCA2_006197 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 3 families F - United States white - 0 - - 3 Johan den Dunnen
+?/. - c.7588C > T r.(?) p.(Gln2530*) likely pathogenic - Parent #1 g.32930717C>T - 7588C > T - BRCA2_006926 - PubMed: Bhaskaran 2019 - (refs 86) - - Germline - 1/133 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var390 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 1 Johan den Dunnen
+?/. - c.8800C >T r.(?) p.(Gln2934*) likely pathogenic - Parent #1 g.32953499C>T - 8800C>T, 8800C>T - BRCA2_000859 - PubMed: Bhaskaran 2019 - (refs 93, 94) - - Germline - 2/214 cases - 0 - DNA SEQ-NG - - cancer, breast BRCA1-var462 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 2 Johan den Dunnen
?/. 2 c.? r.(?) p.? VUS - Parent #1 g.? - T289A - BRCA2_000000 - PubMed: Briceno-Balcazar 2017 - - Germline - - - 0 - DNA SEQ blood - cancer, breast 29021639-Pat? PubMed: Briceno-Balcazar 2017 analysis 256 breast cancer cases - - Colombia - - 0 - - 1 Johan den Dunnen
?/. - c.? r.(?) p.? VUS - Parent #1 g.? - P218L - BRCA2_000000 - PubMed: Briceno-Balcazar 2017 - - Germline - - - 0 - DNA SEQ blood - cancer, breast 29021639-Pat? PubMed: Briceno-Balcazar 2017 analysis 256 breast cancer cases - - Colombia - - 0 - - 1 Johan den Dunnen
+/. - c.? r.? p.? pathogenic - Unknown g.? - 5034_504del - BRCA2_000000 - PubMed: Abulkhair 2018, Journal: Laitman 2019 - - Germline - - - 0 - DNA SEQ - - BROVCA - PubMed: Abulkhair 2018, Journal: Laitman 2019 cases F - Saudi Arabia Arab - 0 - - 1 Eitan Friedman
?/. - c.? r.? p.? VUS - Parent #1 g.? - 1-40delGA - BRCA2_000000 - PubMed: Bhaskaran 2019 - (refs 86) - - Germline - 1/133 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var2 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 1 Johan den Dunnen
?/. - c.? r.? p.? VUS - Parent #1 g.? - 7436_7805del370 - BRCA2_000000 - PubMed: Bhaskaran 2019 - (refs 54, 79) - - Germline - 3/651 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var372 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 3 Johan den Dunnen
?/. - c.? r.? p.? VUS - Parent #1 g.? - 7805_7806insTTGTTCAG - BRCA2_000000 - PubMed: Bhaskaran 2019 - (refs 49) - - Germline - 1/119 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var399 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 1 Johan den Dunnen
?/. - c.? r.? p.? VUS - Parent #1 g.? - 9354_9816del463 - BRCA2_000000 - PubMed: Bhaskaran 2019 - (refs 79) - - Germline - - - 0 - DNA SEQ - - cancer, breast BRCA1-var511 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 1 Johan den Dunnen
?/. - c.? r.? p.? VUS - Parent #1 g.? - 10462A>G - BRCA2_000000 - PubMed: Bhaskaran 2019 - (refs 1, 8, 35, 41) - - Germline - 3/253 cases - 0 - DNA SEQ - - cancer, breast BRCA1-var531 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 3 Johan den Dunnen
?/. _1 c.-1193C>T r.(=) p.(=) VUS - Unknown g.32888651C>T - - - BRCA2_006612 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Italy - - 0 - - 1 Lez J Burke
?/. _1 c.-1122T>C r.(=) p.(=) VUS - Unknown g.32888722T>C - - - BRCA2_006613 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium - - 0 - - 1 Lez J Burke
-/. _1 c.-1027C>A r.(=) p.(=) benign - Unknown g.32888817C>A - - - BRCA2_006614 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs11571570 Germline - 2/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium;Spain - - 0 - - 2 Lez J Burke
?/. _1 c.-1017T>C r.(=) p.(=) VUS - Unknown g.32888827T>C - - - BRCA2_006615 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs552772095 Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium - - 0 - - 1 Lez J Burke
?/. _1 c.-996dup r.(=) p.(=) VUS - Unknown g.32888848dup - - - BRCA2_006616 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs768013835 Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium - - 0 - - 1 Lez J Burke
?/. _1 c.-924C>A r.(=) p.(=) VUS - Unknown g.32888920C>A - - - BRCA2_006617 - PubMed: Burke 2018, Journal: Burke 2018 - rs574423740 Germline - 3/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Italy;Spain - - 0 - - 3 Lez J Burke
?/. _1 c.-924C>A r.(=) p.(=) VUS - Unknown g.32888920C>A - - - BRCA2_006617 - PubMed: Burke 2018, Journal: Burke 2018 - rs574423740 Germline - 2/442 controls - 0 - DNA SEQ - promoter/5'UTR Healthy/Control 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 442 controls F - Spain - - 0 - - 2 Lez J Burke
-/. _1 c.-869G>A r.(=) p.(=) benign - Unknown g.32888975G>A - - - BRCA2_006618 - PubMed: Burke 2018, Journal: Burke 2018 - rs149257887 Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium;Spain - - 0 - - 1 Lez J Burke
-/. _1 c.-869G>A r.(=) p.(=) benign - Unknown g.32888975G>A - - - BRCA2_006618 - PubMed: Burke 2018, Journal: Burke 2018 - rs149257887 Germline - 1/442 controls - 0 - DNA SEQ - promoter/5'UTR Healthy/Control 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 442 controls F - Spain - - 0 - - 1 Lez J Burke
?/. _1 c.-845del r.(=) p.(=) VUS - Unknown g.32888990del - - - BRCA2_006619 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs148073463 Germline - 2/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium;Spain - - 0 - - 2 Lez J Burke
-/- _1 c.-764A>G r.(?) p.(=) benign - Parent #1 g.32889080A>G g.32314943A>G - - BRCA2_003944 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.14 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-700T>G r.(=) p.(=) VUS - Unknown g.32889144T>G - - - BRCA2_006620 - PubMed: Burke 2018, Journal: Burke 2018 - rs541454524 Germline - 9/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Italy;Spain;Czech Republic - - 0 - - 9 Lez J Burke
?/. _1 c.-700T>G r.(=) p.(=) VUS - Unknown g.32889144T>G - - - BRCA2_006620 - PubMed: Burke 2018, Journal: Burke 2018 - rs541454524 Germline - 3/442 controls - 0 - DNA SEQ - promoter/5'UTR Healthy/Control 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 442 controls F - Spain;Czech Republic - - 0 - - 3 Lez J Burke
?/. _1 c.-672C>G r.(=) p.(=) VUS - Unknown g.32889172C>G - - - BRCA2_006621 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs531974275 Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium - - 0 - - 1 Lez J Burke
?/. _1 c.-630G>T r.(=) p.(=) VUS - Unknown g.32889214G>T - - - BRCA2_006622 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Spain - - 0 - - 1 Lez J Burke
?/. _1 c.-592G>C r.(=) p.(=) VUS - Unknown g.32889252G>C - - - BRCA2_006623 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Spain - - 0 - - 1 Lez J Burke
?/. _1 c.-521del r.(=) p.(=) VUS - Unknown g.32889323delG - - - BRCA2_006624 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 2/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Italy - - 0 - - 2 Lez J Burke
?/. _1 c.-495G>A r.(=) p.(=) VUS - Unknown g.32889349G>A - - - BRCA2_006625 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs148060832 Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium - - 0 - - 1 Lez J Burke
-/- _1 c.-481G>A r.(?) p.(=) benign - Parent #1 g.32889363G>A g.32315226G>A - - BRCA2_003945 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.16 (Asian), 0.18 (African), 0.18 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-418A>G r.(=) p.(=) VUS - Unknown g.32889426A>G - - - BRCA2_006626 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Czech Republic - - 0 - - 1 Lez J Burke
-/. _1 c.-407G>A r.(=) p.(=) benign - Unknown g.32889437G>A - - - BRCA2_006627 - PubMed: Burke 2018, Journal: Burke 2018 - rs36221751 Germline - 42/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium;Spain;Czech Republic - - 0 - - 42 Lez J Burke
-/. _1 c.-407G>A r.(=) p.(=) benign - Unknown g.32889437G>A - - - BRCA2_006627 - PubMed: Burke 2018, Journal: Burke 2018 - rs36221751 Germline - 6/442 controls - 0 - DNA SEQ - promoter/5'UTR Healthy/Control 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 442 controls F - Spain;Czech Republic - - 0 - - 6 Lez J Burke
?/. _1 c.-407G>A r.= p.= NA - Unknown g.32889437G>A - - - BRCA2_006627 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-395C>T r.(=) p.(=) VUS - Unknown g.32889449C>T - - - BRCA2_006628 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Czech Republic - - 0 - - 1 Lez J Burke
?/. _1 c.-395C>T r.= p.= NA - Unknown g.32889449C>T - - - BRCA2_006628 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-357T>C r.(=) p.(=) VUS - Unknown g.32889487T>C - - - BRCA2_006629 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Czech Republic - - 0 - - 1 Lez J Burke
-/. _1 c.-296C>T r.(=) p.(=) benign - Unknown g.32889548C>T - - - BRCA2_006630 - PubMed: Burke 2018, Journal: Burke 2018 - rs563971900 Germline - 33/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium;Spain;Czech Republic - - 0 - - 33 Lez J Burke
-/. _1 c.-296C>T r.(=) p.(=) benign - Unknown g.32889548C>T - - - BRCA2_006630 - PubMed: Burke 2018, Journal: Burke 2018 - rs563971900 Germline - 5/442 controls - 0 - DNA SEQ - promoter/5'UTR Healthy/Control 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 442 controls F - Czech Republic - - 0 - - 5 Lez J Burke
+?/. _1 c.-296C>T r.(=) p.(=) NA - Unknown g.32889548C>T - - - BRCA2_006630 expression cloning luciferase assay 0.5x decreased (MCF7 cells) PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-280del r.(=) p.(=) VUS - Unknown g.32889564delG - - - BRCA2_006631 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Denmark - - 0 - - 1 Lez J Burke
?/. _1 c.-280del r.= p.= NA - Unknown g.32889564delG - - - BRCA2_006631 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_13i c.(?_-278)_(7007+1_7008-1)del r.0? p.0? pathogenic - Unknown g.(?_32889616)_(32921034_32928997)del - c.-227-?_7007+?del - BRCA2_001624 - - - - Germline - - - 0 - DNA MLPA - - cancer, breast, cancer, ovarian ? - - - - Netherlands - - 0 - - 1 Rob B. van der Luijt
-?/. _1 c.-277_-269dup r.(=) p.(=) likely benign - Unknown g.32889567_32889575dup - - - BRCA2_006632 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs762246664 Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Spain - - 0 - - 1 Lez J Burke
-?/. - c.-274C>T r.(?) p.(=) likely benign - Unknown g.32889570C>T - BRCA2(NM_000059.3):c.-274C>T (p.=) - ZAR1L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-268C>G r.(=) p.(=) VUS - Unknown g.32889576C>G - - - BRCA2_006633 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium - - 0 - - 1 Lez J Burke
?/. _1 c.-268C>G r.= p.= NA - Unknown g.32889576C>G - - - BRCA2_006633 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-251G>A r.(=) p.(=) VUS - Unknown g.32889593G>A - - - BRCA2_006634 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Czech Republic - - 0 - - 1 Lez J Burke
+/+ _1_2i c.(?_-227)_(67+1_68-1)del r.spl? p.? kConFab: LGR - Unknown g.(?_32889617)_(32890665_32893213)del - BRCA2 del exons 1_2 - BRCA2_003754 - kConFab variant classification: LGR - - Germline - 5/1658 - 0 - DNA SEQ - - cancer, breast - - 5 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - 0 - - 5 kConFab - Heather Thorne
+/. _1_2i c.(?_-227)_(67+1_68-1)del r.0? p.0? pathogenic - Parent #1 g.(?_32889617)_(32890665_32893213)del - c.-227-?_67+?del - BRCA2_003754 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 2 families F - Spain white - 0 - - 2 Johan den Dunnen
+/. _1_2i c.(?_-227)_(67+1_68-1)del r.0? p.0? pathogenic - Parent #1 g.(?_32889617)_(32890665_32893213)del - c.-227-?_67+?del - BRCA2_003754 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 14 families F - United Kingdom (Great Britain) white - 0 - - 14 Johan den Dunnen
+/. _1_2i c.(?_-227)_(67+1_68-1)del r.0? p.0? pathogenic - Parent #1 g.(?_32889617)_(32890665_32893213)del - c.-227-?_67+?del - BRCA2_003754 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 5 families F - United States white - 0 - - 5 Johan den Dunnen
+/. _1_2i c.(?_-227)_(67+1_68-1)dup r.0? p.0? pathogenic - Parent #1 g.(?_32889617)_(32890665_32893213)dup - c.-227-?_67+?dup - BRCA2_006135 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United States white - 0 - - 1 Johan den Dunnen
+/. _1_11i c.(?_-227)_(6841+1_6842-1)del r.0? p.0? pathogenic - Parent #1 g.(?_32889617)_(32915334_32918694)del - c.-227-?_6841+?del - BRCA2_003402 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - Germany unknown - 0 - - 1 Johan den Dunnen
+/. _1_11i c.(?_-227)_(6841+1_6842-1)del r.0? p.0? pathogenic - Parent #1 g.(?_32889617)_(32915334_32918694)del - c.-227-?_6841+?del - BRCA2_003402 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) unknown - 0 - - 1 Johan den Dunnen
+/. _1_11i c.(?_-227)_(6841+1_6842-1)del r.0? p.0? pathogenic - Parent #1 g.(?_32889617)_(32915334_32918694)del - c.-227-?_6841+?del - BRCA2_003402 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United States white - 0 - - 1 Johan den Dunnen
+/+ _1_13i c.(?_-227)_(7007+1_7008-1)del r.0? p.0? pathogenic - Unknown g.(?_32889617)_(32921034_32928997)del - - - BRCA2_001624 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/. _1_13i c.(?_-227)_(7007+1_7008-1)del r.0? p.0? pathogenic - Parent #1 g.(?_32889617)_(32921034_32928997)del - c.-227-?_7007+?del - BRCA2_001624 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United States white - 0 - - 1 Johan den Dunnen
+/. _1_13i c.(?_-227)_(7007+1_7008-1)del r.0? p.0? pathogenic - Parent #1 g.(?_32889617)_(32921034_32928997)del - c.-227-?_7007+?del - BRCA2_001624 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United States unknown - 0 - - 1 Johan den Dunnen
+/. _1_24i c.(?_-227)_(9256+1_9257-1)del r.0? p.0? pathogenic - Parent #1 g.(?_32889617)_(32954283_32968825)del - c.-227-?_9256+?del - BRCA2_006136 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - Spain white - 0 - - 1 Johan den Dunnen
+/. _1_24i c.(?_-227)_(9256+1_9257-1)del r.0? p.0? pathogenic - Parent #1 g.(?_32889617)_(32954283_32968825)del - c.-227-?_9256+?del - BRCA2_006136 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United States Hispanic - 0 - - 1 Johan den Dunnen
+/+ _1_27_ c.(?_-227)_(*902_?)del r.0? p.0? pathogenic - Unknown g.(?_32889617)_(32973809_?)del - - - BRCA2_001843 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ _1_27_ c.(?_-227)_(*902_?)del r.0 p.0 kConFab: P - Unknown g.(?_32889617)_(32973809_?)del - BRCA2 del exons 1_27, c.(?_-227)_(*902_?)del - BRCA2_001843 - kConFab variant classification: P - - Germline - 1/1658 - 0 - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - 0 - - 1 kConFab - Heather Thorne
+/. _1_27_ c.(?_-227)_(*902_?)del r.0 p.0 pathogenic - Unknown g.(?_32889617)_(32973809_?)del - c.(?_1)_(*_?)del - BRCA2_001843 - - - - Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
+/. _1_27_ c.(?_-227)_(*902_?)del r.0? p.0? pathogenic - Parent #1 g.(?_32889617)_(32973809_?)del - c.-227-?_10257+?del - BRCA2_001843 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - Germany unknown - 0 - - 1 Johan den Dunnen
+/. _1_27_ c.(?_-227)_(*902_?)del r.0? p.0 pathogenic (dominant) - Parent #1 g.(?_32889617)_(32973809_?)del - total deletion - BRCA2_001843 - PubMed: Lecarpentier 2012 - - Germline - - - 0 - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 3 families with BRCA1/BRCA2 variant carriers F - France - - 0 - - 3 Johan den Dunnen
-?/. 1 c.-218G>A r.(?) p.(=) likely benign - Unknown g.32889626G>A - - - BRCA2_006635 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Spain - - 0 - - 1 Lez J Burke
?/. 1 c.-218G>A r.= p.= NA - Unknown g.32889626G>A - - - BRCA2_006635 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-217C>T r.(?) p.(=) VUS - Unknown g.32889627C>T g.32315490C>T - - BRCA2_005828 - - - - Germline - - - 0 - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - 0 - - 1 Rien Blok
?/. 1 c.-217C>T r.(?) p.(=) VUS - Unknown g.32889627C>T g.32315490C>T - - BRCA2_005828 - - - - Germline - - - 0 - DNA MIPsm, SEQ - - cancer, breast ? - - - - Netherlands - - 0 - - 1 Rien Blok
?/. 1 c.-217C>T r.(?) p.(=) VUS - Unknown g.32889627C>T - - - BRCA2_005828 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Netherlands - - 0 - - 1 Lez J Burke
-?/. 1 c.-200C>T r.(?) p.(=) likely benign - Unknown g.32889644C>T - - - BRCA2_006636 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Denmark - - 0 - - 1 Lez J Burke
?/. 1 c.-200C>T r.= p.= NA - Unknown g.32889644C>T - - - BRCA2_006636 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.-197A>C r.(?) p.(=) benign - Unknown g.32889647A>C - - - BRCA2_006637 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs370721506 Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium - - 0 - - 1 Lez J Burke
?/. 1 c.-197A>C r.= p.= NA - Unknown g.32889647A>C - - - BRCA2_006637 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-181G>T r.(?) p.(=) likely benign - Unknown g.32889663G>T - BRCA2(NM_000059.3):c.-181G>T (p.?) - ZAR1L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1 c.-175C>T r.(?) p.(=) benign - Parent #1 g.32889669C>T g.32315532C>T - - BRCA2_003946 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.03659 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-175C>T r.(?) p.(=) benign - Unknown g.32889669C>T - BRCA2(NM_007294.2):c.-175C>T - BRCA2_003946 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.-175C>T r.(?) p.(=) benign - Unknown g.32889669C>T - - - BRCA2_003946 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs55880202 Germline - 7/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Belgium - - 0 - - 7 Lez J Burke
?/. 1 c.-175C>T r.= p.= NA - Unknown g.32889669C>T - - - BRCA2_003946 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-172C>A r.(?) p.(=) likely benign - Unknown g.32889672C>A - BRCA2(NM_000059.3):c.-172C>A (p.?) - ZAR1L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.-170C>T r.(=) p.(=) VUS - Parent #1 g.32889674C>T g.32315537C>T - - BRCA2_002317 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Juul Wijnen
-?/. - c.-170C>T r.(?) p.(=) likely benign - Unknown g.32889674C>T - BRCA2(NM_000059.3):c.-170C>T (p.?) - BRCA2_002317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 1 c.-166_-156dup r.(?) p.(=) VUS - Unknown g.32889678_32893302dup - - - BRCA2_006125 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
?/? 1 c.-166_-156dup r.(=) p.(=) VUS - Unknown g.32889678_32889688dup g.32315541_32315551dup - - BRCA2_000550 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Juul Wijnen
-/- 1 c.-162G>A r.(?) p.(=) benign - Parent #1 g.32889682G>A g.32315545G>A - - BRCA2_003947 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0102 (South Asian), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-155G>A r.(=) p.(=) benign - Parent #1 g.32889689G>A g.32315552G>A - - BRCA2_003625 - - - rs191766418 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 1 c.-133T>G r.(?) p.(=) VUS - Unknown g.32889711T>G - - - BRCA2_006638 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Denmark - - 0 - - 1 Lez J Burke
?/. 1 c.-133T>G r.= p.= NA - Unknown g.32889711T>G - - - BRCA2_006638 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-88G>T r.(?) p.(=) likely benign - Unknown g.32889756G>T - BRCA2(NM_000059.3:c.-88G>T):c.-88G>T - BRCA2_006068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-87T>G r.(?) p.(=) VUS - Unknown g.32889757T>G - - - BRCA2_006639 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Denmark - - 0 - - 1 Lez J Burke
?/. 1 c.-87T>G r.= p.= NA - Unknown g.32889757T>G - - - BRCA2_006639 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-82G>C r.(?) p.(=) VUS - Unknown g.32889762G>C g.32315625G>C - - BRCA2_005829 - - - - Germline - - - 0 - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - 0 - - 1 Rien Blok
?/. 1 c.-82G>C r.(?) p.(=) VUS - Unknown g.32889762G>C g.32315625G>C - - BRCA2_005829 - - - - Germline - - - 0 - DNA MIPsm, SEQ - - cancer, breast ? - - - - Netherlands - - 0 - - 1 Rien Blok
?/. 1 c.-82G>C r.(?) p.(=) VUS - Unknown g.32889762G>C - - - BRCA2_005829 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - DNA SEQ - promoter/5'UTR cancer, breast 30204945-cases PubMed: Burke 2018, Journal: Burke 2018 analysis 6603 cases - - Denmark - - 0 - - 1 Lez J Burke
?/. 1 c.-82G>C r.= p.= NA - Unknown g.32889762G>C - - - BRCA2_005829 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-82G>C r.(?) p.(=) likely benign - Unknown g.32889762G>C - BRCA2(NM_000059.3):c.-82G>C (p.?) - BRCA2_005829 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.-75C>G r.-75c>g p.= VUS - Unknown g.32889769C>G g.32315632C>G - - BRCA2_001909 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 1 c.-75C>G r.-75c>g p.= VUS - Unknown g.32889769C>G g.32315632C>G - - BRCA2_001909 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 1 c.-75C>G r.(?) p.(=) VUS - Unknown g.32889769C>G g.32315632C>G - - BRCA2_001909 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
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