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HomeAll Cancer Mutant ClonesBRCA2 Mutants

Description of the mutations of BRCA2 (NM_000059) Mutants

Keys for Mutation Description

A.A. substitution
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted

 

SKUMutation DescriptionAffected Codon#Affected NT#DescriptionEffect
RC400495 R18H1853G>ABreast Cancer
RC400496 W31X3193G>ABreast and/or ovarian cancer
RC400497 F32L3294T>CBreast cancer
RC400498 E33X3397G>TBreast and/or ovarian cancer
RC400499 E34X34100G>TBreast cancer
RC400500 Y42C42125A>GBreast Cancer
RC400501 E45X45133G>TBreast and/or ovarian cancer
RC400502 E49X49145G>TBreast cancer
RC400503 K53R53158A>GBreast cancer
RC400504 Y57X57171C>GBreast cancer
RC400505 T64I64191C>TBreast and/or ovarian Cancer
RC400506 A75P75223G>CBreast cancer
RC400507 F81L81241T>CBreast cancer
RC400508 Q84X84250C>TProstate cancer
RC400509 E97X97289G>TBreast cancer
RC400510 L105X105314T>GBreast cancer
RC400511 R118H118353G>AOesophageal carcinoma ?
RC400512 Q147X147439C>TBreast and/or ovarian cancer
RC400513 H150R150449A>GBreast cancer
RC400514 C161W161483T>GBreast and/or ovarian cancer
RC400515 M192T192575T>CPancreatic Cancer
RC400516 W194X194581G>ABreast cancer
RC400517 T200I200599C>TBreast and/or ovarian Cancer
RC400518 P201R201602C>GBreast cancer
RC400519 v211A211632T>CBreast cancer
RC400520 P222S222664C>TBreast cancer
RC400521 D224v224671A>TBreast cancer
RC400522 T225A225673A>GBreast Cancer
RC400523 D244N244730G>ABreast cancer
RC400524 A248T248742G>ABreast cancer
RC400525 S273X273818C>ABreast and/or ovarian cancer
RC400526 C315S315943T>AOesophageal carcinoma ?
RC400527 K318X318952A>TBreast cancer
RC400528 Q321X321961C>TBreast and/or ovarian cancer
RC400529 K322Q322964A>CLiver cancer
RC400530 S326R326978C>ABreast cancer
RC400531 K327E327979A>GBreast and/or ovarian Cancer
RC400532 N372H3721114A>CBreast cancer, association with
RC400533 P375S3751123C>TBreast cancer
RC400534 S384F3841151C>TBreast cancer
RC400535 K385X3851153A>TBreast and/or ovarian cancer
RC400536 W395G3951183T>GBreast cancer
RC400537 L414X4141241T>ABreast cancer
RC400538 E462G4621385A>GBreast Cancer
RC400539 K467X4671399A>TBreast and/or ovarian cancer
RC400540 E475X4751423G>TBreast cancer
RC400541 A495T4951483G>ABreast and/or ovarian Cancer
RC400542 Q499R4991496A>GBreast and/or ovarian Cancer
RC400543 I505T5051514T>CBreast cancer
RC400544 E532X5321594G>TBreast cancer
RC400545 C554W5541662T>GBreast cancer, male
RC400546 L557X5571670T>GBreast and/or ovarian cancer
RC400547 W563X5631689G>ABreast and/or ovarian cancer
RC400548 T582P5821744A>CBreast cancer
RC400549 N588S5881763A>GBreast cancer
RC400550 D596H5961786G>CBreast cancer
RC400551 T598A5981792A>GBreast cancer
RC400552 S611X6111832C>ABreast and/or ovarian cancer
RC400553 C616Y6161847G>ABreast Cancer
RC400554 Q619X6191855C>TBreast and/or ovarian cancer
RC400555 Q713L7132138A>TBreast cancer
RC400556 I729M7292187A>GBreast Cancer
RC400557 Q742X7422224C>TBreast and/or ovarian cancer
RC400558 M784v7842350A>GBreast Cancer
RC400559 Y792X7922376C>ABreast cancer
RC400560 L809X8092426T>GDuctal carcinoma in situ
RC400561 Q819X8192455C>TBreast and/or ovarian cancer
RC400562 C822Y8222465G>ABreast Cancer
RC400563 P920T9202758C>ABreast and/or ovarian Cancer
RC400564 N924I9242771A>TBreast cancer
RC400565 D935N9352803G>ABreast and/or ovarian Cancer
RC400566 K944X9442830A>TBreast cancer
RC400567 L997X9972990T>ABreast and/or ovarian cancer
RC400568 T1011R10113032C>GBreast cancer
RC400569 K1015X10153043A>TOvarian cancer
RC400570 L1019v10193055C>GBreast cancer
RC400571 K1026X10263076A>TBreast and/or ovarian cancer
RC400572 E1035X10353103G>TOvarian cancer
RC400573 Q1037X10373109C>TOvarian cancer
RC400574 L1053X10533158T>GBreast and/or ovarian cancer
RC400575 Q1056X10563166C>TBreast cancer
RC400576 K1057R10573170A>GBreast cancer
RC400577 Q1095X10953283C>TBreast cancer
RC400578 S1099X10993296C>GBreast cancer
RC400579 L1114R11143341T>GBreast Cancer
RC400580 S1121X11213362C>GBreast and/or ovarian cancer
RC400581 Q1148X11483442C>TBreast and/or ovarian cancer
RC400582 S1172L11723515C>TBreast Cancer
RC400583 S1179N11793536G>ABreast cancer
RC400584 S1271L12713812C>TBreast and/or ovarian Cancer
RC400585 M1272v12723814A>GBreast Cancer
RC400586 M1272L12723814A>TBreast Cancer
RC400587 Q1291X12913871C>TBreast cancer
RC400588 E1308X13083922G>TBreast cancer
RC400589 E1320X13203958G>TBreast cancer, male
RC400590 L1334X13344001T>ABreast and/or ovarian cancer
RC400591 T1354M13544061C>TBreast cancer
RC400592 Q1396R13964187A>GPromyelocytic leukemia ?
RC400593 D1420Y14204258G>TBreast and/or ovarian Cancer
RC400594 K1445T14454334A>CBreast Cancer
RC400595 Y1480X14804440T>GBreast and/or ovarian cancer
RC400596 E1518X15184552G>TBreast and/or ovarian cancer
RC400597 L1522F15224566G>TBreast cancer
RC400598 G1529R15294585G>ABreast and/or ovarian cancer
RC400599 E1550X15504648G>TFanconi anaemia
RC400600 L1620X16204859T>GOvarian cancer
RC400601 S1630X16304889C>GBreast cancer
RC400602 Y1655X16554965C>GOvarian cancer
RC400603 K1690N16905070A>CBreast and/or ovarian Cancer
RC400604 E1703X17035107G>TBreast and/or ovarian cancer
RC400605 N1730Y17305188A>TBreast cancer
RC400606 Y1762X17625286T>AProstate cancer
RC400607 G1771D17715312G>ABreast and/or ovarian Cancer
RC400608 Q1782X17825344C>TOvarian Cancer
RC400609 E1857X18575569G>TBreast cancer
RC400610 K1872X18725614A>TOvarian cancer
RC400611 E1876X18765626G>TBreast cancer
RC400612 N1880K18805640T>GBreast cancer
RC400613 S1882X18825645C>GBreast and/or ovarian cancer
RC400614 S1882X18825645C>ABreast cancer
RC400615 T1887M18875660C>TBreast and/or ovarian Cancer
RC400616 Y1894X18945682C>GOvarian cancer
RC400617 E1895Q18955683G>CBreast cancer, early-onset
RC400618 L1904v19045710C>GBreast cancer
RC400619 E1912X19125734G>TBreast and/or ovarian cancer
RC400620 C1913X19135739T>ABreast and/or ovarian cancer
RC400621 T1915M19155744C>TBreast Cancer
RC400622 E1928X19285782G>TBreast cancer
RC400623 I1929v19295785A>GBreast Cancer
RC400624 L1930X19305789T>ABreast and/or ovarian cancer
RC400625 Q1931X19315791C>TOvarian cancer
RC400626 E1953X19535857G>TBreast cancer
RC400627 S1955X19555864C>ABreast and/or ovarian cancer
RC400628 S1970X19705909C>ABreast cancer
RC400629 Q1987X19875959C>TBreast cancer
RC400630 D1990A19905969A>CBreast Cancer
RC400631 Q1994X19945980C>TBreast and/or ovarian cancer
RC400632 Q1998X19985992C>TBreast cancer
RC400633 Q2009X20096025C>TOvarian cancer
RC400634 K2013X20136037A>TBreast and/or ovarian cancer
RC400635 S2022X20226065C>GBreast cancer
RC400636 E2029G20296086A>GBreast Cancer
RC400637 T2031A20316091A>GBreast Cancer
RC400638 R2034H20346101G>ABreast Cancer
RC400639 R2034C20346100C>TBreast and/or ovarian Cancer
RC400640 Q2042X20426124C>TBreast cancer
RC400641 G2044v20446131G>TBreast cancer
RC400642 G2057X20576169G>TBreast and/or ovarian cancer
RC400643 S2072C20726215C>GBreast cancer
RC400644 H2074N20746220C>ABreast and/or ovarian Cancer
RC400645 Y2094C20946281A>GBreast cancer
RC400646 R2108H21086323G>ABreast cancer
RC400647 v2109I21096325G>ABreast Cancer
RC400648 H2116R21166347A>GBreast and/or ovarian cancer
RC400649 K2128N21286384A>CBreast cancer
RC400650 N2135H21356403A>CBreast cancer
RC400651 K2150Q21506448A>CBreast Cancer
RC400652 v2166L21666496G>TBreast Cancer
RC400653 E2183X21836547G>TBreast cancer
RC400654 S2186X21866557C>AOvarian cancer
RC400655 S2219X22196656C>GBreast cancer
RC400656 Y2222C22226665A>GBreast cancer
RC400657 F2234L22346700T>CBreast and/or ovarian Cancer
RC400658 v2280G22806839T>GBreast Cancer
RC400659 P2283A22836847C>GBreast cancer
RC400660 R2318Q23186953G>ABreast and/or ovarian cancer
RC400661 R2318X23186952C>TBreast cancer
RC400662 R2336H23367007G>AFanconi anaemia D1
RC400663 Q2342X23427024C>TBreast cancer
RC400664 A2351G23517052C>GBreast Cancer
RC400665 Q2354X23547060C>TBreast cancer
RC400666 Y2363C23637088A>GBreast Cancer
RC400667 Q2384K23847150C>ABreast cancer
RC400668 R2394X23947180A>TBreast and/or ovarian cancer
RC400669 H2415R24157244A>GOcular melanoma
RC400670 Q2421X24217261C>TBreast cancer
RC400671 Q2456E24567366C>GBreast and/or ovarian Cancer
RC400672 A2466v24667397C>TBreast cancer
RC400673 I2490T24907469T>CBreast Cancer
RC400674 Q2491X24917471C>TBreast and/or ovarian cancer
RC400675 R2494X24947480C>TBreast cancer
RC400676 R2502C25027504C>TBreast and/or ovarian cancer
RC400677 L2510P25107529T>CFanconi anaemia
RC400678 T2515I25157544C>TBreast and/or ovarian Cancer
RC400679 R2520X25207558C>TBreast cancer
RC400680 S2522F25227565C>TBreast and/or ovarian cancer
RC400681 G2544D25447631G>ABreast and/or ovarian cancer
RC400682 Q2580X25807738C>TBreast cancer
RC400683 W2586X25867758G>ABreast and/or ovarian cancer
RC400684 W2586X25867757G>ABreast cancer
RC400685 C2605Y26057814G>ABreast Cancer
RC400686 Y2621X26217863T>ABreast and/or ovarian cancer
RC400687 W2626C26267878G>CFanconi anaemia D1
RC400688 W2626R26267876T>CBreast Cancer
RC400689 I2627F26277879A>TBreast and/or ovarian Cancer
RC400690 C2636X26367908T>ABreast and/or ovarian cancer
RC400691 L2653P26537958T>CBreast and/or ovarian Cancer
RC400692 R2659T26597976G>CBreast and/or ovarian cancer
RC400693 R2659K26597976G>ABreast and/or ovarian Cancer
RC400694 E2663v26637988A>TBreast and/or ovarian cancer
RC400695 R2668X26688002A>TBreast and/or ovarian cancer
RC400696 S2670L26708009C>TBreast and/or ovarian cancer
RC400697 S2670X26708009C>ABreast and/or ovarian cancer
RC400698 C2689X26898067T>ABreast cancer
RC400699 S2704F27048111C>TBreast cancer
RC400700 N2706S27068117A>GBreast Cancer
RC400701 Q2714X27148140C>TBreast cancer
RC400702 A2717S27178149G>TBreast and/or ovarian cancer
RC400703 L2721R27218162T>GBreast Cancer
RC400704 T2722R27228165C>GBreast cancer
RC400705 D2723A27238168A>CBreast cancer
RC400706 D2723v27238168A>TBreast and/or ovarian Cancer
RC400707 D2723H27238167G>CBreast cancer
RC400708 v2728I27288182G>ABreast cancer
RC400709 K2729N27298187G>TLiver Cancer
RC400710 L2740X27408219T>AFanconi anaemia
RC400711 G2748D27488243G>ABreast and/or ovarian Cancer
RC400712 A2770T27708308G>ABreast and/or ovarian cancer
RC400713 L2776X27768327T>GBreast cancer
RC400714 W2788X27888363G>ABreast and/or ovarian cancer
RC400715 L2805S28058414T>CBreast and/or ovarian cancer
RC400716 D2811G28118432A>GBreast cancer
RC400717 S2835X28358504C>AFanconi anaemia
RC400718 S2835P28358503T>CBreast Cancer
RC400719 I2840v28408518A>GBreast cancer
RC400720 E2856A28568567A>CBreast Cancer
RC400721 Q2858X28588572C>TBreast and/or ovarian cancer
RC400722 K2882X28828644A>TBreast cancer
RC400723 Q2893X28938677C>TBreast cancer
RC400724 Q2894X28948680C>TBreast cancer
RC400725 Q2899X28998695C>TBreast and/or ovarian cancer
RC400726 G2901D29018702G>AOvarian cancer
RC400727 I2944F29448830A>TBreast Cancer
RC400728 K2950N29508850G>TBreast and/or ovarian cancer
RC400729 A2951T29518851G>ABreast cancer
RC400730 M2952v29528854A>GBreast cancer
RC400731 Q2960X29608878C>TBreast and/or ovarian cancer
RC400732 S2978X29788933C>ABreast cancer
RC400733 S2984X29848951C>GBreast cancer
RC400734 S2993X29938978C>ABreast cancer
RC400735 Y2997X29978991T>GBreast cancer
RC400736 E3002K30029004G>ABreast cancer
RC400737 Y3006X30069018C>ABreast and/or ovarian cancer
RC400738 T3013I30139038C>TBreast cancer
RC400739 Q3026X30269076C>TBreast and/or ovarian cancer
RC400740 Q3034R30349101A>GFallopian tube cancer
RC400741 R3052Q30529155G>ABreast Cancer
RC400742 R3052W30529154C>TBreast cancer
RC400743 Q3066X30669196C>TFanconi anaemia
RC400744 C3069X30699207T>AFanconi anaemia
RC400745 G3076E30769227G>APancreatic Cancer
RC400746 K3083X30839247A>TBreast cancer
RC400747 Y3092C30929275A>GBreast cancer
RC400748 D3095E30959285C>GBreast cancer
RC400749 E3096X30969286G>TBreast and/or ovarian cancer
RC400750 Y3098X30989294C>GBreast cancer
RC400751 Y3098X30989294C>ABreast and/or ovarian cancer
RC400752 Y3098H30989292T>CBreast cancer
RC400753 M3118T31189353T>CBreast cancer
RC400754 N3124I31249371A>TBreast cancer
RC400755 Q3126X31269376C>TBreast and/or ovarian cancer
RC400756 R3128X31289382C>TBreast cancer
RC400757 Q3156X31569466C>TBreast cancer
RC400758 W3191X31919572G>ABreast cancer
RC400759 K3196E31969586A>GBreast cancer
RC400760 S3200X32009599C>GOvarian Cancer
RC400761 P3300S33009898C>TOesophageal carcinoma ?
RC400762 Y3308X33089924C>GBreast and colorectal cancer
RC400763 E3309X33099925G>TBreast cancer
RC400764 K3326X33269976A>TBreast cancer, association with
RC400765 R3384X338410150C>TBreast cancer
RC400766 T3401M340110202C>TBreast cancer
RC400767 I3412v341210234A>GBreast Cancer

 

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