Unique variants in 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.

6283 entries on 63 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     

Owner     
+/. 1 13i_24i c.(7007+1_7008-1)_(9256+1_9257-1)[3] r.? p.? - - pathogenic g.(32921034_32928997)_(32954283_32968825)[3] - c.7008-?_9256+?[3] - BRCA2_006197 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.9924C>R r.(?) p.(Tyr3308*) - - unclassified g.32972574C>R g.32398437C>R 9924 - BRCA2_007223 1 more item UK Variant Sharing Initiative - - CLASSIFICATION record - 1 case - - - UK Variant Sharing Initiative
?/., +/. 8 2 c.? r.?, r.(?) p.? - - VUS, pathogenic g.? - 9354_9816del463, 1-40delGA, 10462A>G, 5034_504del, 7436_7805del370, T289A, 7805_7806insTTGTTCAG, 1 more item - BRCA2_000000 - PubMed: Bhaskaran 2019 - (refs 79), PubMed: Bhaskaran 2019 - (refs 86), PubMed: Briceno-Balcazar 2017, 4 more items - - Germline - 1/133 cases, 3/253 cases, 3/651 cases, 1/119 cases - - - Johan den Dunnen, Eitan Friedman
?/. 1 _1 c.-1193C>T r.(=) p.(=) - - VUS g.32888651C>T g.32314514C>T - - BRCA2_006612 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
?/. 1 _1 c.-1122T>C r.(=) p.(=) - - VUS g.32888722T>C g.32314585T>C - - BRCA2_006613 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
-/. 1 _1 c.-1027C>A r.(=) p.(=) - - benign g.32888817C>A g.32314680C>A - - BRCA2_006614 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs11571570 Germline - 2/6603 cases - - - Lez J Burke
?/. 1 _1 c.-1017T>C r.(=) p.(=) - - VUS g.32888827T>C g.32314690T>C - - BRCA2_006615 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs552772095 Germline - 1/6603 cases - - - Lez J Burke
?/. 1 _1 c.-996dup r.(=) p.(=) - - VUS g.32888848dup g.32314711dup - - BRCA2_006616 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs768013835 Germline - 1/6603 cases - - - Lez J Burke
?/. 2 _1 c.-924C>A r.(=) p.(=) - - VUS g.32888920C>A g.32314783C>A - - BRCA2_006617 - PubMed: Burke 2018, Journal: Burke 2018 - rs574423740 Germline - 2/442 controls, 3/6603 cases - - - Lez J Burke
-/. 2 _1 c.-869G>A r.(=) p.(=) - - benign g.32888975G>A g.32314838G>A - - BRCA2_006618 - PubMed: Burke 2018, Journal: Burke 2018 - rs149257887 Germline - 1/442 controls, 1/6603 cases - - - Lez J Burke
?/. 1 _1 c.-845del r.(=) p.(=) - - VUS g.32888999del g.32314862del - - BRCA2_006619 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs148073463 Germline - 2/6603 cases - - - Lez J Burke
-/- 1 _1 c.-764A>G r.(?) p.(=) - - benign g.32889080A>G g.32314943A>G - - BRCA2_003944 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
?/. 2 _1 c.-700T>G r.(=) p.(=) - - VUS g.32889144T>G g.32315007T>G - - BRCA2_006620 - PubMed: Burke 2018, Journal: Burke 2018 - rs541454524 Germline - 3/442 controls, 9/6603 cases - - - Lez J Burke
?/. 1 _1 c.-672C>G r.(=) p.(=) - - VUS g.32889172C>G g.32315035C>G - - BRCA2_006621 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs531974275 Germline - 1/6603 cases - - - Lez J Burke
?/. 1 _1 c.-630G>T r.(=) p.(=) - - VUS g.32889214G>T g.32315077G>T - - BRCA2_006622 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
?/. 1 _1 c.-592G>C r.(=) p.(=) - - VUS g.32889252G>C g.32315115G>C - - BRCA2_006623 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
?/. 1 _1 c.-521del r.(=) p.(=) - - VUS g.32889323del g.32315186del - - BRCA2_006624 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 2/6603 cases - - - Lez J Burke
?/. 1 _1 c.-495G>A r.(=) p.(=) - - VUS g.32889349G>A g.32315212G>A - - BRCA2_006625 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs148060832 Germline - 1/6603 cases - - - Lez J Burke
-/- 1 _1 c.-481G>A r.(?) p.(=) - - benign g.32889363G>A g.32315226G>A - - BRCA2_003945 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
?/. 1 _1 c.-418A>G r.(=) p.(=) - - VUS g.32889426A>G g.32315289A>G - - BRCA2_006626 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
-/., ?/. 3 _1 c.-407G>A r.(=), r.= p.(=), p.= - - benign, NA g.32889437G>A g.32315300G>A - - BRCA2_006627 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - rs36221751 Germline, In vitro (cloned) - 6/442 controls, 42/6603 cases - - - Lez J Burke
?/. 2 _1 c.-395C>T r.=, r.(=) p.=, p.(=) - - NA, VUS g.32889449C>T g.32315312C>T - - BRCA2_006628 expression cloning luciferase assay no effect, not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned), Germline - 1/6603 cases - - - Lez J Burke
?/. 1 _1 c.-357T>C r.(=) p.(=) - - VUS g.32889487T>C g.32315350T>C - - BRCA2_006629 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
-/., +?/. 3 _1 c.-296C>T r.(=) p.(=) - - benign, NA g.32889548C>T g.32315411C>T - - BRCA2_006630 expression cloning luciferase assay 0.5x decreased (MCF7 cells) PubMed: Burke 2018, Journal: Burke 2018 - rs563971900 Germline, In vitro (cloned) - 5/442 controls, 33/6603 cases - - - Lez J Burke
?/. 2 _1 c.-280del r.=, r.(=) p.=, p.(=) - - NA, VUS g.32889564del g.32315427del - - BRCA2_006631 expression cloning luciferase assay no effect, not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned), Germline - 1/6603 cases - - - Lez J Burke
+/. 1 _1_13i c.(?_-278)_(7007+1_7008-1)del r.0? p.0? - - pathogenic g.(?_32889616)_(32921034_32928997)del - c.-227-?_7007+?del - BRCA2_001624 - - - - Germline - - - - - Rob B. van der Luijt
-?/. 1 _1 c.-277_-269dup r.(=) p.(=) - - likely benign g.32889567_32889575dup g.32315430_32315438dup - - BRCA2_006632 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs762246664 Germline - 1/6603 cases - - - Lez J Burke
-?/. 1 - c.-274C>T r.(?) p.(=) - - likely benign g.32889570C>T g.32315433C>T - - ZAR1L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 _1 c.-268C>G r.=, r.(=) p.=, p.(=) - - NA, VUS g.32889576C>G g.32315439C>G - - BRCA2_006633 expression cloning luciferase assay no effect, not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned), Germline - 1/6603 cases - - - Lez J Burke
?/. 1 _1 c.-251G>A r.(=) p.(=) - - VUS g.32889593G>A g.32315456G>A - - BRCA2_006634 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
+/. 3 _1_2i c.(?_-227)_(67+1_68-1)del r.0? p.0? - - pathogenic g.(?_32889617)_(32890665_32893213)del - c.-227-?_67+?del - BRCA2_003754 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/+ 1 _1_2i c.(?_-227)_(67+1_68-1)del r.spl? p.? - kConFab likely pathogenic g.(?_32889617)_(32890665_32893213)del - BRCA2 del exons 1_2 - BRCA2_003754 - kConFab variant classification: LGR - - Germline - 5/1658 - - - kConFab - Heather Thorne
+/. 1 _1_2i c.(?_-227)_(67+1_68-1)dup r.0? p.0? - - pathogenic g.(?_32889617)_(32890665_32893213)dup - c.-227-?_67+?dup - BRCA2_006135 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 3 _1_11i c.(?_-227)_(6841+1_6842-1)del r.0? p.0? - - pathogenic g.(?_32889617)_(32915334_32918694)del - c.-227-?_6841+?del - BRCA2_003402 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/+, +/. 3 _1_13i c.(?_-227)_(7007+1_7008-1)del r.0? p.0? - - pathogenic g.(?_32889617)_(32921034_32928997)del - c.-227-?_7007+?del - BRCA2_001624 - Journal: Rebbeck 2018 - - Unknown, Germline ? - - - - Frans BL Hogervorst, Johan den Dunnen
+/. 2 _1_24i c.(?_-227)_(9256+1_9257-1)del r.0? p.0? - - pathogenic g.(?_32889617)_(32954283_32968825)del - c.-227-?_9256+?del - BRCA2_006136 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/., +/+ 6 _1_27_ c.(?_-227)_(*902_?)del r.0?, r.?, r.0 p.0, p.?, p.0? - kConFab pathogenic (dominant), pathogenic g.(?_32889617)_(32973809_?)del - total deletion, LRG_293:g.(5982_882910)del, c.(?_1)_(*_?)del, c.-227-?_10257+?del, 1 more item - BRCA2_001843 minimum size deletion 104 kb PubMed: Lecarpentier 2012, Van Der Merwe 2020, submitted, kConFab variant classification: P, 1 more item - - Germline, Germline/De novo (untested), Unknown ? 1/744 cases, 1/1658 - - - Johan den Dunnen, Nerina Chrisna van der Merwe, Ans M.W. van den Ouweland, kConFab - Heather Thorne
?/., -?/. 2 1 c.-218G>A r.=, r.(?) p.=, p.(=) - - NA, likely benign g.32889626G>A g.32315489G>A - - BRCA2_006635 expression cloning luciferase assay no effect, not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned), Germline - 1/6603 cases - - - Lez J Burke
?/. 3 1 c.-217C>T r.(?) p.(=) - - VUS g.32889627C>T g.32315490C>T - - BRCA2_005828 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Rien Blok, Lez J Burke
?/., -?/. 2 1 c.-200C>T r.=, r.(?) p.=, p.(=) - - NA, likely benign g.32889644C>T g.32315507C>T - - BRCA2_006636 expression cloning luciferase assay no effect, not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned), Germline - 1/6603 cases - - - Lez J Burke
?/., -/. 2 1 c.-197A>C r.=, r.(?) p.=, p.(=) - - NA, benign g.32889647A>C g.32315510A>C - - BRCA2_006637 expression cloning luciferase assay no effect, not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs370721506 In vitro (cloned), Germline - 1/6603 cases - - - Lez J Burke
-?/. 1 - c.-181G>T r.(?) p.(=) - - likely benign g.32889663G>T g.32315526G>T - - ZAR1L_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., -/-, -/. 4 1 c.-175C>T r.=, r.(?) p.=, p.(=) - - NA, benign g.32889669C>T g.32315532C>T - - BRCA2_003946 expression cloning luciferase assay no effect, VKGL data sharing initiative Nederland, 2 more items PubMed: Burke 2018, Journal: Burke 2018, ENIGMA classification criteria - rs55880202 In vitro (cloned), SUMMARY record, CLASSIFICATION record, Germline - 7/6603 cases - - - Lez J Burke, ENIGMA consortium, VKGL-NL_Nijmegen
-?/. 1 - c.-172C>A r.(?) p.(=) - - likely benign g.32889672C>A g.32315535C>A - - ZAR1L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-171G>A r.(?) p.(=) - - likely benign g.32889673G>A g.32315536G>A - - ZAR1L_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/? 2 1 c.-170C>T r.(?), r.(=) p.(=) - - likely benign, VUS g.32889674C>T g.32315537C>T - - BRCA2_002317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen, Juul Wijnen
?/? 2 1 c.-166_-156dup r.(=), r.(?) p.(=) - - VUS g.32889678_32889688dup, g.32889678_32893302dup g.32315541_32315551dup - - BRCA2_000550, BRCA2_006125 1 more item - - - Unknown ? - - - - Juul Wijnen, Arjen Mensenkamp
-/- 1 1 c.-162G>A r.(?) p.(=) - - benign g.32889682G>A g.32315545G>A - - BRCA2_003947 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/. 1 - c.-155G>A r.(=) p.(=) - - benign g.32889689G>A g.32315552G>A - - BRCA2_003625 - - - rs191766418 Germline - - - - - Andreas Laner
?/. 2 1 c.-133T>G r.=, r.(?) p.=, p.(=) - - NA, VUS g.32889711T>G g.32315574T>G - - BRCA2_006638 expression cloning luciferase assay no effect, not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned), Germline - 1/6603 cases - - - Lez J Burke
-?/. 1 - c.-88G>T r.(?) p.(=) - - likely benign g.32889756G>T g.32315619G>T BRCA2(NM_000059.3):c.-88G>T - BRCA2_006068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 1 c.-87T>G r.=, r.(?) p.=, p.(=) - - NA, VUS g.32889757T>G g.32315620T>G - - BRCA2_006639 expression cloning luciferase assay no effect, not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned), Germline - 1/6603 cases - - - Lez J Burke
?/., -?/. 5 1 c.-82G>C r.(?), r.= p.(=), p.= - - VUS, NA, likely benign g.32889762G>C g.32315625G>C - - BRCA2_005829 expression cloning luciferase assay no effect, VKGL data sharing initiative Nederland, 1 more item PubMed: Burke 2018, Journal: Burke 2018 - - Germline, In vitro (cloned), CLASSIFICATION record - 1/6603 cases - - - Rien Blok, Lez J Burke, VKGL-NL_Nijmegen
?/? 4 1 c.-75C>G r.-75c>g, r.(?) p.=, p.(=) - - VUS g.32889769C>G g.32315632C>G - - BRCA2_001909 1 more item - - - Unknown ? - - - - Juul Wijnen, Hans Gille
-?/. 1 - c.-67C>T r.(?) p.(=) - - likely benign g.32889777C>T g.32315640C>T - - ZAR1L_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/?, -/-, -/. 3 1 c.-59_-57del r.(=), r.(?) p.(=) - - VUS, benign g.32889785_32889787del g.32315648_32315650del - - BRCA2_001911 not in 442 controls, 1 more item ENIGMA classification criteria, PubMed: Burke 2018, Journal: Burke 2018 - - Unknown, SUMMARY record, Germline ? 1/6603 cases - - - Arjen Mensenkamp, ENIGMA consortium, Lez J Burke
-/., -/- 4 1 c.-52A>G r.(?), r.(=) p.(=) - - benign g.32889792A>G g.32315655A>G BRCA2(NM_000059.3):c.-52A>G - BRCA2_003404 VKGL data sharing initiative Nederland, 1 more item shared by Quest Diagnostics, ENIGMA classification criteria - rs206118 Germline, Unknown, SUMMARY record, CLASSIFICATION record - 1/2300 cases - - - Angela Solano & F Cardoso, Quest Diagnostics, ENIGMA consortium, VKGL-NL_Nijmegen
?/?, ?/. 4 1 c.-41G>A r.(?), r.(=) p.(=) - - VUS g.32889803G>A g.32315666G>A - - BRCA2_001912 - - - - Unknown, Germline ? - - - - Arjen Mensenkamp, Nienke van der Stoep
+/. 3 1i_2i c.(-40+1_-39-1)_(67+1_68-1)del r.? p.0? - - pathogenic g.(32889805_32890558)_(32890665_32893213)del - c.-39-?_67+?del - BRCA2_006137 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+?/., +/. 3 1i c.-40+1G>A r.-138_-40del, r.spl p.(=), p.?, p.0? - - NA, pathogenic g.32889805G>A g.32315668G>A c.-40+1G>A, g.988G>A, g.988G>A, c.-806G>A - BRCA2_000520 1 more item PubMed: Bakker 2014, Laitman, submitted - - In vitro (cloned), Germline - - - - - Janine Bakker, Eitan Friedman, Florentia Fostira
?/. 1 1i c.-40+5G>T r.spl? p.? - - unclassified g.32889809G>T g.32315672G>T 1-40+5G>T - BRCA2_007224 1 more item UK Variant Sharing Initiative - - CLASSIFICATION record - 1 case - - - UK Variant Sharing Initiative
?/?, ?/., -?/. 8 1i c.-40+7G>T r.(?), r.(=) p.(=) - - VUS, likely benign g.32889811G>T g.32315674G>T - - BRCA2_001914 VKGL data sharing initiative Nederland, not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Unknown, Germline, CLASSIFICATION record ? 2/6603 cases - - - Marjolijn JL Ligtenberg, Rien Blok, Nienke van der Stoep, VKGL-NL_Nijmegen, Lez J Burke
?/. 1 1i c.-40+8G>A ? ? - - NA g.32889812G>A g.32315675G>A IVS1+8G/A - BRCA2_000001 - PubMed: Hadjisavvas 2003 - - In vitro (cloned) - - - - - Peter Devilee
?/. 1 1i c.-40+75C>T r.(?) p.(=) - - VUS g.32889879C>T g.32315742C>T - - BRCA2_006640 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
-/- 1 1i c.-40+164G>A r.(?) p.(=) - - benign g.32889968G>A g.32315831G>A - - BRCA2_003948 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
?/., -/- 3 1i c.-40+192C>T r.(?) p.(=) - - VUS, benign g.32889996C>T g.32315859C>T - - BRCA2_003949 1 more item ENIGMA classification criteria - - Germline, SUMMARY record - - - - - Rien Blok, ENIGMA consortium
-/- 1 1i c.-40+222C>T r.(?) p.(=) - - benign g.32890026C>T g.32315889C>T - - BRCA2_003950 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 1i c.-40+360G>A r.(?) p.(=) - - benign g.32890164G>A g.32316027G>A - - BRCA2_003951 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
-/- 1 1i c.-39-332G>T r.(?) p.(=) - - benign g.32890227G>T g.32316090G>T - - BRCA2_003952 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
?/. 1 1i c.-39-176C>T r.(?) p.(=) - - VUS g.32890383C>T g.32316246C>T - - BRCA2_006641 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
?/. 2 1i c.-39-116G>A r.(?) p.(=) - - VUS g.32890443G>A g.32316306G>A - - BRCA2_006642 - PubMed: Burke 2018, Journal: Burke 2018 - rs541319330 Germline - 1/442 controls, 3/6603 cases - - - Lez J Burke
?/. 1 1i c.-39-115G>A r.(?) p.(=) - - VUS g.32890444G>A g.32316307G>A - - BRCA2_006643 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs191766418 Germline - 1/6603 cases - - - Lez J Burke
?/. 1 1i c.-39-114A>G r.(?) p.(=) - - VUS g.32890445A>G g.32316308A>G - - BRCA2_006644 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs973070389 Germline - 1/6603 cases - - - Lez J Burke
?/. 1 2 c.-39-106C>T r.(?) p.(=) - - VUS g.32890453C>T g.32316316C>T IVS1-106C>T - BRCA2_003918 - - - - Germline - - - - - Florentia Fostira
?/. 1 1i c.-39-96dup ? ? - - NA g.32890463dup g.32316326dup IVS1-96insA - BRCA2_000003 - PubMed: Hadjisavvas 2003 - - In vitro (cloned) - - - - - Peter Devilee
?/. 1 1i c.-39-91A>G r.(?) p.(=) - - VUS g.32890468A>G g.32316331A>G - - BRCA2_006645 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
?/. 1 1i c.-39-88A>G r.(?) p.(=) - - VUS g.32890471A>G g.32316334A>G - - BRCA2_006646 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
?/. 1 1i c.-39-72C>T r.(?) p.(=) - - VUS g.32890487C>T g.32316350C>T - - BRCA2_006647 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
?/. 1 1i c.-39-71T>C r.(?) p.(=) - - VUS g.32890488T>C g.32316351T>C - - BRCA2_006648 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
?/. 1 1i c.-39-60T>C r.(?) p.(=) - - VUS g.32890499T>C g.32316362T>C - - BRCA2_006649 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs751297272 Germline - 1/6603 cases - - - Lez J Burke
?/?, -?/., ?/. 6 1i c.-39-36C>G r.(?), r.(=) p.(=) - - VUS, likely benign g.32890523C>G g.32316386C>G BRCA2(NM_000059.3):c.-39-36C>G - BRCA2_001916 VKGL data sharing initiative Nederland, not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs183997506 Unknown, CLASSIFICATION record, Germline ? 2/6603 cases - - - Frans BL Hogervorst, Hans Gille, VKGL-NL_Nijmegen, VKGL-NL_NKI, Lez J Burke
?/. 1 1i c.-39-35C>G r.(?) p.(=) - - VUS g.32890524C>G g.32316387C>G - - BRCA2_006650 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 2/6603 cases - - - Lez J Burke
?/. 1 1i c.-39-34C>G r.(?) p.(=) - - VUS g.32890525C>G g.32316388C>G - - BRCA2_006651 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 2/6603 cases - - - Lez J Burke
?/. 1 1i c.-39-27A>G r.(?) p.(=) - - VUS g.32890532A>G g.32316395A>G - - BRCA2_006652 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
?/?, ?/. 2 1i c.-39-26G>A r.(=), r.(?) p.(=) - kConFab VUS g.32890533G>A g.32316396G>A BRCA2 IVS 1-26 G>A - BRCA2_003755 - kConFab variant classification: UV, 1 more item - - Germline - 19/1658, 2 families/patients - - - kConFab - Heather Thorne, Xianqi Gao
?/. 1 1i c.-39-26G>T r.(?) p.(=) - - VUS g.32890533G>T g.32316396G>T IVS1-26G>T - BRCA2_003914 - - - - Germline - - - - - Florentia Fostira
?/., ?/? 3 1i c.-39-12_-39-10del r.(?) p.(=), p.(?) - - VUS, unclassified g.32890547_32890549del g.32316410_32316412del - - BRCA2_002316 not in 442 controls, 1 more item PubMed: Burke 2018, Journal: Burke 2018, UK Variant Sharing Initiative - rs276174798 Germline, Unknown, CLASSIFICATION record ? 15/6603 cases, 2 cases - - - Lez J Burke, Genevieve Michils, UK Variant Sharing Initiative
?/. 1 1i c.-39-11C>T r.(?) p.(=) - - VUS g.32890548C>T g.32316411C>T - - BRCA2_006653 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 5/6603 cases - - - Lez J Burke
?/. 1 1i c.-39-7T>C r.(?) p.(=) - - VUS g.32890552T>C g.32316415T>C - - BRCA2_005743 - - - rs276174801 Germline - 1/1900 cases - - - Angela Solano & F Cardoso
-/. 1 1i c.-39-7_-39-5del r.= ? - - NA g.32890552_32890554del g.32316415_32316417del IVS1-9del3 - BRCA2_000004 mRNA analysis (RT-PCR); as wildtype control PubMed: Bonatti 2006 - - In vitro (cloned) - - - - - Peter Devilee
?/. 1 1i c.-39-5del r.(?) p.(=) - - VUS g.32890554del g.32316417del - - BRCA2_006654 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs276174800 Germline - 1/6603 cases - - - Lez J Burke
?/., ?/? 5 1i c.-39-4G>T r.(?) p.(=), p.? - - VUS g.32890555G>T g.32316418G>T - - BRCA2_001917 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs765644109 Germline, Unknown ? 3/6603 cases - - - Lez J Burke, Ans M.W. van den Ouweland, Frans BL Hogervorst
+?/., +/+, ?/?, +/. 5 1i c.-39-2A>G r.spl, r.spl? p.? - - likely pathogenic, pathogenic, VUS g.32890557A>G g.32316420A>G BRCA2(NM_000059.3):c.-39-2A>G - BRCA2_001853 not in 442 controls, VKGL data sharing initiative Nederland PubMed: Burke 2018, Journal: Burke 2018 - - Germline, Unknown, CLASSIFICATION record ? 1/6603 cases - - - Lez J Burke, Ans M.W. van den Ouweland, Rob B. van der Luijt, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 2 1i_2 c.-39-1_-39del r.spl p.? - - likely pathogenic, likely pathogenic (dominant) g.32890558_32890559del g.32316421_32316422del -39-1_-39delGA, -39-2_-39-1delAG - BRCA2_006069 - PubMed: Bhaskaran 2019 - (refs 79), 1 more item - rs1064794852 Germline - 2 families/patients - - - Johan den Dunnen, Xianqi Gao
?/. 1 2 c.-38C>T r.(?) p.(=) - - VUS g.32890560C>T g.32316423C>T - - BRCA2_006655 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
?/? 1 2 c.-36T>C r.(=) p.(=) - - VUS g.32890562T>C g.32316425T>C - - BRCA2_002169 - - - - Unknown - - - - - Hans Gille
?/. 1 2 c.-30C>T r.(?) p.(=) - - VUS g.32890568C>T g.32316431C>T - - BRCA2_006656 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs775945279 Germline - 2/6603 cases - - - Lez J Burke
?/., ?/? 3 2 c.-27A>G r.(?), r.(=) p.(=) - - VUS g.32890571A>G g.32316434A>G - - BRCA2_002170 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs764618190 Germline, Unknown - 1/6603 cases - - - Lez J Burke, Pascale Hilbert
-/-, -/., -?/-, ?/. 891 2, 1, 5´UTR, 1i, _1 c.-26G>A r.(?), r.(=), ? p.(=), ? - ENIGMA, kConFab benign, likely benign, NA g.32890572G>A g.32316435G>A 5´UTR 203G>A, BRCA2(NM_000059.3):c.-26G>A, 1-26G>A, BRCA2 203 G>A (5'UTR), 1 more item - BRCA2_000005 VKGL data sharing initiative Nederland, Prevalence in normal controls; predicted neutral, 1 more item contributed by Dept. of Dr Vaccaro, ENIGMA classification criteria, kConFab variant classification: PM, 3 more items - rs1799943 Germline, CLASSIFICATION record, SUMMARY record, Unknown, In vitro (cloned) no 629/1900 cases, 733/2300 cases, 1/1900 cases, 3/1900 cases, 6/1900 cases, 2/1900 cases, 7/1900 cases, 3 more items - - - Angela Solano & F Cardoso, VKGL-NL_Nijmegen, Roxana Cerretini, VKGL-NL_Utrecht, ENIGMA consortium, Pascale Hilbert, Maaike Vreeswijk, kConFab - Heather Thorne, VKGL-NL_NKI, Maximiliano Zeballos, Peter Devilee, VKGL-NL_Rotterdam
?/. 1 2 c.-26G>C ? ? - - NA g.32890572G>C g.32316435G>C 203G/C - BRCA2_000002 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - Peter Devilee
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