ClinVar Miner

Variants with conflicting interpretations between Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) and Breast Cancer Information Core (BIC) (BRCA1)

Minimum review status of the submission from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA): Collection method of the submission from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA):
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
0 771 0 6 177 0 35 218

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic uncertain significance benign
pathogenic 0 33 0
uncertain significance 1 0 0
likely benign 0 32 6
benign 1 145 0

All variants with conflicting interpretations #

Total variants: 218
Download table as spreadsheet
HGVS dbSNP
NM_007294.3(BRCA1):c.-19-115T>C rs3765640
NM_007294.3(BRCA1):c.-19-3A>G rs273898669
NM_007294.3(BRCA1):c.213-161A>G rs799912
NM_007294.3(BRCA1):c.301+8T>C rs80358101
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4097-10G>A rs80358057
NM_007294.3(BRCA1):c.4097-11T>C rs80358072
NM_007294.3(BRCA1):c.4097-141A>C rs799916
NM_007294.3(BRCA1):c.4185+10G>C rs80358104
NM_007294.3(BRCA1):c.4357+117G>A rs3737559
NM_007294.3(BRCA1):c.4485-63C>G rs273900734
NM_007294.3(BRCA1):c.5075-53C>T rs8176258
NM_007294.3(BRCA1):c.5152+85del rs8176259
NM_007294.3(BRCA1):c.5153-13A>G rs45471406
NM_007294.3(BRCA1):c.5153-6C>A rs80358129
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5277+78G>A rs80358107
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.5406+68T>C rs8176307
NM_007294.3(BRCA1):c.547+146A>T rs8176140
NM_007294.3(BRCA1):c.81-11del rs273902788
NM_007294.3(BRCA1):c.81-13C>G rs56328013
NM_007294.3(BRCA1):c.81-65G>C rs80358117
NM_007294.3(BRCA1):c.81-9C>G rs80358127
NM_007294.4(BRCA1):c.*36C>G rs3092995
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu) rs56046357
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser) rs80357057
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile) rs80357057
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082
NM_007294.4(BRCA1):c.1834A>G (p.Arg612Gly) rs80357245
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.4(BRCA1):c.1866G>T (p.Ala622=) rs1800064
NM_007294.4(BRCA1):c.1893A>G (p.Leu631=) rs80356834
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His) rs80357344
NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly) rs80357105
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.4(BRCA1):c.2079C>T (p.Asp693=) rs80356835
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.4(BRCA1):c.2103G>A (p.Lys701=) rs273898677
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844
NM_007294.4(BRCA1):c.2130T>G (p.Thr710=) rs273898678
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.4(BRCA1):c.2175C>T (p.Ser725=) rs273898680
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu) rs80356912
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.4(BRCA1):c.231G>T (p.Thr77=) rs80356847
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu) rs55914168
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682
NM_007294.4(BRCA1):c.243del (p.Gln81fs) rs273899684
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs) rs273899686
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.4(BRCA1):c.2568T>C (p.Tyr856=) rs80356832
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955
NM_007294.4(BRCA1):c.2931A>G (p.Pro977=) rs273899691
NM_007294.4(BRCA1):c.2995C>T (p.Leu999=) rs80356848
NM_007294.4(BRCA1):c.301+7G>A rs80358113
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly) rs80357190
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val) rs80357271
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val) rs80356899
NM_007294.4(BRCA1):c.3144T>C (p.Gly1048=) rs80356837
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447
NM_007294.4(BRCA1):c.3327A>G (p.Lys1109=) rs41293449
NM_007294.4(BRCA1):c.3341AAG[1] (p.Glu1115del) rs80358336
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.4(BRCA1):c.3426A>G (p.Ala1142=) rs80356843
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272
NM_007294.4(BRCA1):c.3463G>C (p.Asp1155His) rs80357484
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919
NM_007294.4(BRCA1):c.3603T>G (p.Gly1201=) rs80356830
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.4(BRCA1):c.370A>G (p.Ile124Val) rs80357448
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688
NM_007294.4(BRCA1):c.3714_3747del (p.Gln1240fs) rs886038023
NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala) rs80357037
NM_007294.4(BRCA1):c.372C>A (p.Ile124=) rs273900715
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191
NM_007294.4(BRCA1):c.3759T>G (p.Ser1253=) rs80356852
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=) rs80356831
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr) rs80357160
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys) rs80357457
NM_007294.4(BRCA1):c.4026A>G (p.Ser1342=) rs80356828
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345
NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs) rs483353092
NM_007294.4(BRCA1):c.4074G>A (p.Glu1358=) rs80356846
NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu) rs80357218
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=) rs41293453
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991
NM_007294.4(BRCA1):c.42C>A (p.Val14=) rs80356827
NM_007294.4(BRCA1):c.4314C>G (p.Ala1438=) rs80356856
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=) rs80356840
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His) rs80357022
NM_007294.4(BRCA1):c.4484+14A>G rs80358022
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691
NM_007294.4(BRCA1):c.4636G>T (p.Asp1546Tyr) rs28897691
NM_007294.4(BRCA1):c.463C>G (p.Gln155Glu) rs80357180
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.4(BRCA1):c.4833C>T (p.Ala1611=) rs80356842
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.4(BRCA1):c.4893T>C (p.Ser1631=) rs80356850
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter) rs200432771
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.4(BRCA1):c.4985T>C (p.Phe1662Ser) rs28897695
NM_007294.4(BRCA1):c.4987-20A>G rs80358035
NM_007294.4(BRCA1):c.4991T>C (p.Leu1664Pro) rs80357314
NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys) rs80356958
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile) rs80357043
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5074+6C>G rs80358032
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) rs80357325
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.4(BRCA1):c.5113C>T (p.Leu1705=) rs80356858
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg) rs80357222
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.4(BRCA1):c.5256A>C (p.Ala1752=) rs80356844
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5406+33A>T rs80358092
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920
NM_007294.4(BRCA1):c.5464_5465insT (p.His1822fs) rs273902769
NM_007294.4(BRCA1):c.5468-10C>A rs8176316
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5532C>T (p.Leu1844=) rs80356829
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.5556C>G (p.Thr1852=) rs80356841
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.4(BRCA1):c.567T>C (p.Asp189=) rs80356845
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090
NM_007294.4(BRCA1):c.594-2A>C rs80358033
NM_007294.4(BRCA1):c.61del (p.Ile21fs) rs273902778
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.716A>G (p.His239Arg) rs80357396
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007294.4(BRCA1):c.795T>C (p.Ser265=) rs201441987
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436
NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly) rs80357199
NM_007294.4(BRCA1):c.891G>A (p.Met297Ile) rs80357103
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063
NM_007294.4(BRCA1):c.996G>T (p.Arg332=) rs80356836
NM_007297.4(BRCA1):c.407-58del rs8176144
NM_007299.4(BRCA1):c.548-17G>T rs80358014

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