Unique variants in 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.

5291 entries on 53 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

ClassClinical     

FunctionalAnalysis/Result     

FunctionalAnalysis/Technique     

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 _1_27_ c.(?_-228)_(*1_?)del r.0? p.0? - pathogenic - - g.(?_32889616)_(32972908_?)del - c.-227-?_10257+?del - BRCA2_001843 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
?/. 2 2 c.? r.(?) p.? - - - - g.? - T289A, P218L - BRCA2_000000 - PubMed: Briceno-Balcazar 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 _1 c.-1193C>T r.(=) p.(=) - VUS - - g.32888651C>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 - - - 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.(=) - not pathogenic - - g.32888817C>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 - - - 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 - - - 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 - - - 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.(=) - not pathogenic - - g.32888975G>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.32888990del - - - 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.(=) - - - - 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 - - - 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 - - - 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 - - - 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 - - - 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.32889323delG - - - 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 - - - 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.(=) - - - - 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 - - - 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.= - not pathogenic - - g.32889437G>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.(=) - VUS - - g.32889449C>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 - - - 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.(=) - not pathogenic - - g.32889548C>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.(=) - VUS - - g.32889564delG - - - 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? - IARC-5 - - g.(?_32889616)_(32921034_32928997)del - c.-227-?_7007+?del - BRCA2_001624 - - - - Germline - - - - - Marco Koudijs
-?/. 1 _1 c.-277_-269dup r.(=) p.(=) - likely not pathogenic - - g.32889567_32889575dup - - - BRCA2_006632 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs762246664 Germline - 1/6603 cases - - - Lez J Burke
?/. 2 _1 c.-268C>G r.=, r.(=) p.=, p.(=) - VUS - - g.32889576C>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 - - - BRCA2_006634 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
+/. 3 _1_2i c.(?_-228)_(67+1_68-1)del r.0? p.0? - pathogenic - - g.(?_32889616)_(32890665_32893213)del - c.-227-?_67+?del - BRCA2_003754 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/+ 1 _1_2i c.(?_-228)_(67+1_68-1)del r.spl? p.? - kConFab: LGR - - g.(?_32889616)_(32890665_32893213)del - BRCA2 del exons 1_2 - BRCA2_003754 - kConFab variant classification: LGR - - Germline - 5/1658 - - - kConFab - Heather Thorne
+/. 1 _1_2i c.(?_-228)_(67+1_68-1)dup r.0? p.0? - pathogenic - - g.(?_32889616)_(32890665_32893213)dup - c.-227-?_67+?dup - BRCA2_006135 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/. 3 _1_11i c.(?_-228)_(6841+1_6842-1)del r.0? p.0? - pathogenic - - g.(?_32889616)_(32915334_32918694)del - c.-227-?_6841+?del - BRCA2_003402 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/+, +/. 3 _1_13i c.(?_-228)_(7007+1_7008-1)del r.0? p.0? - pathogenic - - g.(?_32889616)_(32921034_32928997)del - c.-227-?_7007+?del - BRCA2_001624 - Journal: Rebbeck 2018 - - Unknown, Germline ? - - - - Frans BL Hogervorst, Johan den Dunnen
+/. 2 _1_24i c.(?_-228)_(9256+1_9257-1)del r.0? p.0? - pathogenic - - g.(?_32889616)_(32954283_32968825)del - c.-227-?_9256+?del - BRCA2_006136 - Journal: Rebbeck 2018 - - Germline - - - - - Johan den Dunnen
+/., +/+ 3 _1_27_ c.(?_-228)_(*1_?)del r.0, r.0? p.0, p.0? - IARC:5, mozaiek, kConFab: P - - g.(?_32889616)_(32972908_?)del - c.(?_1)_(*_?)del, BRCA2 del exons 1_27, c.(?_-227)_(*902_?)del - BRCA2_001843 - kConFab variant classification: P - - Germline, Unknown ? 1/1658 - - - Ans M.W. van den Ouweland, kConFab - Heather Thorne
?/., -?/. 2 1 c.-218G>A r.=, r.(?) p.=, p.(=) - likely not pathogenic - - g.32889626G>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.(=) - IARC: 2, 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.(=) - likely not pathogenic - - g.32889644C>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.(=) - not pathogenic - - g.32889647A>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
?/., -/-, -/. 4 1 c.-175C>T r.=, r.(?), r.(=) p.=, p.(=) - benign, not pathogenic - - g.32889669C>T g.32315532C>T BRCA2:NM_007294.2:c.-175C>T - BRCA2_003946 expression cloning luciferase assay no effect, not in 442 controls, 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
-?/., ?/? 2 1 c.-170C>T r.(=) p.(=) - likely benign, Plon: 3 - - g.32889674C>T g.32315537C>T BRCA2:NM_000059.3:c.-170C>T (?) - BRCA2_002317 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen, Juul Wijnen
-?/., ?/? 3 1 c.-166_-156dup r.(=), r.(?) p.(=) - likely benign, Plon: 3, cat. II - - g.32889678_32889688dup, g.32889678_32893302dup g.32315541_32315551dup BRCA2:NM_000059.3:c.-166_-156dup:c.-166_-156dup (?) - BRCA2_000550, BRCA2_006125 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record, Unknown ? - - - - VKGL-NL_Nijmegen, Juul Wijnen, Arjen Mensenkamp
-/- 1 1 c.-162G>A r.(?) p.(=) - - - - g.32889682G>A g.32315545G>A - - BRCA2_003947 1 more item ENIGMA classification criteria - - SUMMARY record - - - - - ENIGMA consortium
?/. 2 1 c.-133T>G r.=, r.(?) p.=, p.(=) - VUS - - g.32889711T>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 - BRCA2:NM_000059.3:c.-88G>T:c.1-88G>T - BRCA2_006068 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 1 c.-87T>G r.=, r.(?) p.=, p.(=) - VUS - - g.32889757T>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
-?/., ?/. 4 1 c.-82G>C r.(?), r.= p.(=), p.= - IARC: 2, VUS - - g.32889762G>C g.32315625G>C - - BRCA2_005829 expression cloning luciferase assay no effect, not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline, In vitro (cloned) - 1/6603 cases - - - Rien Blok, Lez J Burke
?/? 4 1 c.-75C>G r.-75c>g, r.(?) p.=, p.(=) - cat II, RNA gedaan. Geen veranderde splicing en beide allelen komen tot expressie. Waarschijnlijk ne, 2 more items - - g.32889769C>G g.32315632C>G - - BRCA2_001909 - - - - Unknown ? - - - - Juul Wijnen, Hans Gille
?/?, -/., -/- 4 1 c.-59_-57del r.(=), r.(?) p.(=) - cat. II, benign, not pathogenic - - g.32889785_32889787del g.32315648_32315650del BRCA2:NM_000059.3:c.-59_-57del (?) - BRCA2_001911 VKGL data sharing initiative Nederland; correct HGVS to be checked, not in 442 controls, 1 more item ENIGMA classification criteria, PubMed: Burke 2018, Journal: Burke 2018 - - Unknown, CLASSIFICATION record, SUMMARY record, Germline ? 1/6603 cases - - - Arjen Mensenkamp, VKGL-NL_Nijmegen, ENIGMA consortium, Lez J Burke
-/., -/- 4 1 c.-52A>G r.(?), r.(=) p.(=) - class 1, benign - - g.32889792A>G g.32315655A>G BRCA2:NM_000059.3:c.-52A>G:c.1-52A>G - BRCA2_003404 VKGL data sharing initiative Nederland; correct HGVS to be checked, 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.(=) - cat. II, IARC:3, Bell: II - - 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
+?/+?, +/. 2 1i c.-40+1G>A r.-138_-40del, r.spl p.(=), p.0? - - strong functional effect Embryonic stem cell assay, RNA analysis g.32889805G>A g.32315668G>A c.-40+1G>A, g.988G>A, c.-806G>A - BRCA2_000520 1 more item PubMed: Bakker 2014 - - In vitro (cloned), Germline - - - - - Janine Bakker, Florentina Fostira
?/?, -?/., ?/. 8 1i c.-40+7G>T r.(?), r.(=) p.(=) - Plon: 2, IARC: 2, IARC:3, likely benign, VUS - - g.32889811G>T g.32315674G>T BRCA2:NM_000059.3:c.-40+7G>T (?) - BRCA2_001914 VKGL data sharing initiative Nederland; correct HGVS to be checked, 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 ? ? - - ? ? 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 - - - 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.(=) - - - - 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.(=) - IARC: 2 - - 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.(=) - - - - 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.(=) - - - - 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.(=) - - - - 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 - - - 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 - - - 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 - - - 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.32890445delinsG - - - 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.(=) - - - - g.32890453C>T g.32316316C>T IVS1-106C>T - BRCA2_003918 - - - - Germline - - - - - Florentina Fostira
?/. 1 1i c.-39-96dup ? ? - - ? ? 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 - - - 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 - - - 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 - - - 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 - - - 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 - - - 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.?, p.(=) - UV cat. II, likely benign, VUS - - g.32890523C>G g.32316386C>G BRCA2:NM_000059.3:c.-39-36C>G (?), BRCA2:c.-39-36C>G - BRCA2_001916 VKGL data sharing initiative Nederland; correct HGVS to be checked, 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 - - - 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 - - - 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 - - - BRCA2_006652 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - - - Lez J Burke
?/? 1 1i c.-39-26 G>A r.(=) p.(=) - kConFab: UV - - g.32890533G>A g.32316396G>A BRCA2 IVS 1-26 G>A - BRCA2_003755 - kConFab variant classification: UV - - Germline - 19/1658 - - - kConFab - Heather Thorne
?/. 1 1i c.-39-26G>T r.(?) p.(=) - - - - g.32890533G>T g.32316396G>T IVS1-26G>T - BRCA2_003914 - - - - Germline - - - - - Florentina Fostira
?/., ?/? 2 1i c.-39-12_-39-10del r.(?) p.(=), p.(?) - VUS - - g.32890547_32890549del g.32316410_32316412del - - BRCA2_002316 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs276174798 Germline, Unknown ? 15/6603 cases - - - Lez J Burke, Genevieve Michils
?/. 1 1i c.-39-11C>T r.(?) p.(=) - VUS - - g.32890548C>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.(=) - class 3 - - 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.= ? - - as wildtype control mRNA analysis (RT-PCR) g.32890552_32890554del g.32316415_32316417del IVS1-9del3 - BRCA2_000004 - PubMed: Bonatti 2006 - - In vitro (cloned) - - - - - Peter Devilee
?/. 1 1i c.-39-5del r.(?) p.(=) - VUS - - g.32890554del - - - 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, IARC:2, cat II - - 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, Splice predictieprogramma's: verlies SD site intron 1. RNA/o wordt ingezet., 1 more item - - g.32890557A>G g.32316420A>G BRCA2:c.-39-2A>G - BRCA2_001853 not in 442 controls, VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Burke 2018, Journal: Burke 2018 - - Germline, Unknown, CLASSIFICATION record ? 1/6603 cases - - - Lez J Burke, Ans M.W. van den Ouweland, Marco Koudijs, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.-39-1_-39del r.spl? p.? - pathogenic - - g.32890558_32890559del - BRCA2:NM_000059.3:c.-39-1_-39del (?) - BRCA2_006069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 2 c.-38C>T r.(?) p.(=) - VUS - - g.32890560C>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.(=) - Plon: 2 - - g.32890562T>C g.32316425T>C - - BRCA2_002169 - - - - Unknown - - - - - Hans Gille
?/. 1 2 c.-30C>T r.(?) p.(=) - VUS - - g.32890568C>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, Plon: 3 - - 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
-/., -?/-, -/-, ?/. 879 2, 1, 1i, _1 c.-26G>A r.(?), r.(=), ?, - p.(=), ? - class 1, ENIGMA 1, benign, Plon: 1, kConFab: PM ?, predicted neutral ?, Prevalence in normal controls g.32890572G>A g.32316435G>A 5´UTR 203G>A, BRCA2:NM_000059.3:c.-26G>A:c.1-26G>A (?), 1-26G>A, BRCA2:c.-26G>A, 2 more items - BRCA2_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked, 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, Peter Devilee, VKGL-NL_Rotterdam
?/. 1 2 c.-26G>C ? ? - - ? ? g.32890572G>C g.32316435G>C 203G/C - BRCA2_000002 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - Peter Devilee
-?/. 1 - c.-26_-25delinsAG r.(=) p.(=) - likely benign - - g.32890572_32890573delinsAG - BRCA2:NM_000059.3:c.-26_-25delinsAG (?) - BRCA2_006070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., ?/? 7 2 c.-25C>G r.(?), r.(=) p.(=) - VUS, cat II ook 203G>A cat I, cat. II, Plon: 2, Bell: II - - g.32890573C>G g.32316436C>G - - BRCA2_001854 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline, Unknown ? 2/6603 cases - - - Lez J Burke, Marjolijn JL Ligtenberg, Arjen Mensenkamp, Hans Gille
?/? 1 2 c.-18G>T r.(=) p.(=) - cat. II - - g.32890580G>T g.32316443G>T - - BRCA2_001855 - - - - Unknown ? - - - - Arjen Mensenkamp
-/., ?/?, ?/., -?/. 13 2 c.-15A>C r.(?), r.(=) p.(=) - not pathogenic, UV2, UV cat. II, IARC:3, likely benign, Plon: 2, Plon: 3, VUS - - g.32890583A>C g.32316446A>C BRCA2:NM_000059.3:c.-15A>C (?), BRCA2:c.-15A>C - BRCA2_001856 not in 442 controls, VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Burke 2018, Journal: Burke 2018 - rs138705202 Germline, Unknown, CLASSIFICATION record ? 4/6603 cases - - - Lez J Burke, Annemarie H van der Hout, Ans M.W. van den Ouweland, Frans BL Hogervorst, Hans Gille, VKGL-NL_Nijmegen, Cindy Badoer, Pascale Hilbert, VKGL-NL_Rotterdam
-/. 1 2 c.-14T>G - ? - - predicted neutral Prevalence in normal controls g.32890584T>G g.32316447T>G 217T/G - BRCA2_000006 - PubMed: Wagner 1999 - - In vitro (cloned) - - - - - Peter Devilee
?/. 1 - c.-13A>G r.(=) p.(=) - VUS - - g.32890585A>G - BRCA2:c.-13A>G - BRCA2_005926 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
?/. 1 2 c.-12T>C r.(?) p.(=) - VUS - - g.32890586T>C - - - BRCA2_006657 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs276174795 Germline - 1/6603 cases - - - Lez J Burke
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