ClinVar Miner

List of variants in gene BRCA2 reported by GeneKor MSA

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_000059.4(BRCA2):c.8755-66T>C rs4942486 0.51824
NM_000059.4(BRCA2):c.631+183T>A rs3752451 0.32939
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_000059.4(BRCA2):c.*369A>G rs7334543 0.27664
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000059.4(BRCA2):c.681+56C>T rs2126042 0.21010
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_000059.4(BRCA2):c.1910-74T>C rs2320236 0.19842
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_000059.4(BRCA2):c.*105A>C rs15869 0.15131
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000059.4(BRCA2):c.9257-83G>A rs9595456 0.04317
NM_000059.4(BRCA2):c.425+67A>C rs11571610 0.03705
NM_000059.4(BRCA2):c.426-89T>C rs3783265 0.03704
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.1910-51G>T rs11571651 0.03694
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439 0.03688
NM_000059.4(BRCA2):c.7435+53C>T rs11147489 0.03657
NM_000059.4(BRCA2):c.7397= (p.Val2466=) rs169547 0.02098
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548 0.00004
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met) rs80358390 0.00002
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile) rs55730620 0.00002
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val) rs202230438 0.00001
NM_000059.4(BRCA2):c.425+4T>G rs757612558 0.00001
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter) rs80358711 0.00001
NM_000059.4(BRCA2):c.5081G>C (p.Arg1694Thr) rs753721331 0.00001
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met) rs80358889 0.00001
NM_000059.4(BRCA2):c.793+1G>A rs81002846 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9472A>G (p.Thr3158Ala) rs786204284 0.00001
NM_000059.4(BRCA2):c.9863C>T (p.Thr3288Ile) rs754588394 0.00001
NM_000059.3(BRCA2):c.(6841+1_6842-1)_(7007+1_7008-1)del
NM_000059.3(BRCA2):c.1114_1117delinsCATT (p.Asn372_Gln373delinsHisTer) rs879255323
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.7508_7521delinsG (p.Val2503fs) rs879255331
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1057del (p.Ser353fs) rs879255322
NM_000059.4(BRCA2):c.1059del (p.Phe354fs) rs1555281715
NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter) rs397507571
NM_000059.4(BRCA2):c.1117C>T (p.Gln373Ter) rs397507572
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
NM_000059.4(BRCA2):c.1306_1307del (p.Lys436fs) rs80359278
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.1327G>T (p.Glu443Ter) rs397507579
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs) rs80359283
NM_000059.4(BRCA2):c.1405_1406del (p.Arg468_Asp469insTer) rs397507586
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1588A>T (p.Lys530Ter) rs879255325
NM_000059.4(BRCA2):c.1733del (p.Gly578fs) rs879255326
NM_000059.4(BRCA2):c.1763_1766del (p.Asn588fs) rs80359303
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1821dup (p.Asp608fs) rs879255327
NM_000059.4(BRCA2):c.2095_2096del (p.Gln699fs) rs886040403
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter) rs587781471
NM_000059.4(BRCA2):c.2435del (p.Asn812fs) rs80359329
NM_000059.4(BRCA2):c.2490_2491insT (p.Val831fs) rs886040430
NM_000059.4(BRCA2):c.2644del (p.Leu882fs) rs1555282764
NM_000059.4(BRCA2):c.2743_2747del (p.Thr915fs) rs786204752
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs) rs80359374
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly) rs80358588
NM_000059.4(BRCA2):c.3462del (p.Thr1155fs) rs1555283256
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3547G>C (p.Glu1183Gln) rs1566228768
NM_000059.4(BRCA2):c.3554_3563del (p.Thr1185fs) rs397507675
NM_000059.4(BRCA2):c.3608G>A (p.Ser1203Asn) rs745817393
NM_000059.4(BRCA2):c.378dup (p.Ala127fs) rs879255321
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del) rs276174837
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs) rs80359412
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4412_4414del (p.Arg1471del) rs886039317
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.4769del (p.Lys1590fs) rs879255328
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer) rs80359484
NM_000059.4(BRCA2):c.5162del (p.Asn1721fs) rs1555284090
NM_000059.4(BRCA2):c.51_52del (p.Arg18fs) rs80359483
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.5379_5380insTT (p.Val1794fs) rs879255329
NM_000059.4(BRCA2):c.537dup (p.Ile180fs) rs1566219199
NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs) rs587782011
NM_000059.4(BRCA2):c.5925del (p.Cys1975fs) rs1555284465
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6160G>A (p.Ala2054Thr) rs80358855
NM_000059.4(BRCA2):c.6211del (p.Ser2071fs) rs431825338
NM_000059.4(BRCA2):c.6296G>C (p.Arg2099Thr) rs80358868
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6607G>T (p.Val2203Phe) rs587782136
NM_000059.4(BRCA2):c.682-1G>T rs81002831
NM_000059.4(BRCA2):c.6839_6840insA (p.Glu2282fs) rs1555284866
NM_000059.4(BRCA2):c.6938-120T>C rs206080
NM_000059.4(BRCA2):c.6941del (p.Thr2314fs) rs80359628
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.6983A>G (p.Glu2328Gly) rs201500887
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000059.4(BRCA2):c.7209_7212delinsGG (p.Lys2404fs) rs876659770
NM_000059.4(BRCA2):c.7234_7235insG (p.Thr2412fs) rs397507906
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.4(BRCA2):c.7617+1G>T rs397507922
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.7805+1G>A rs81002809
NM_000059.4(BRCA2):c.7806-2A>T rs81002836
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.4(BRCA2):c.7914del (p.Pro2639fs) rs879255332
NM_000059.4(BRCA2):c.7919_7928del (p.Lys2640fs) rs879255333
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter) rs276174900
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8052_8053dup (p.Thr2685fs) rs397507958
NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter) rs80359050
NM_000059.4(BRCA2):c.8200_8209del (p.Asp2733_Pro2734insTer) rs398122599
NM_000059.4(BRCA2):c.8548del (p.Glu2850fs) rs1555287766
NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs) rs1135401927
NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter) rs397508002
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter) rs397507411
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs) rs869320799
NM_000059.4(BRCA2):c.8944A>C (p.Lys2982Gln) rs80359145
NM_000059.4(BRCA2):c.8981C>T (p.Ser2994Leu) rs1566253076
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter) rs80359205
NM_000059.4(BRCA2):c.9376C>T (p.Gln3126Ter) rs80359210
NM_000059.4(BRCA2):c.9501+1G>A rs397508058
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs) rs398122618
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter) rs80359247
NM_000059.4(BRCA2):c.994del (p.Ile332fs) rs80359777

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.