Variants with conflicting interpretations "benign" from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) and "uncertain significance" from 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:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 140

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.213-161A>G	rs799912	0.49747
NM_007294.4(BRCA1):c.4485-63C>G	rs273900734	0.30900
NM_007294.4(BRCA1):c.-19-115T>C	rs3765640	0.30895
NM_007294.4(BRCA1):c.547+146A>T	rs8176140	0.30790
NM_007294.4(BRCA1):c.4357+117G>A	rs3737559	0.06818
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)	rs1799950	0.04695
NM_007294.4(BRCA1):c.5075-53C>T	rs8176258	0.01914
NM_007294.4(BRCA1):c.*36C>G	rs3092995	0.01385
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)	rs1799967	0.01348
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)	rs4986852	0.01109
NM_007294.4(BRCA1):c.5406+68T>C	rs8176307	0.01019
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)	rs56082113	0.00964
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)	rs28897679	0.00707
NM_007294.4(BRCA1):c.5468-10C>A	rs8176316	0.00464
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)	rs28897689	0.00419
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)	rs55688530	0.00301
NM_007294.4(BRCA1):c.4987-20A>G	rs80358035	0.00252
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)	rs4986845	0.00209
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)	rs4986844	0.00147
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)	rs55815649	0.00145
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)	rs1800709	0.00137
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)	rs80357459	0.00106
NM_007294.4(BRCA1):c.5277+78G>A	rs80358107	0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)	rs4986854	0.00098
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)	rs1800704	0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)	rs1800063	0.00065
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)	rs41293447	0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)	rs28897693	0.00064
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)	rs28897677	0.00060
NM_007294.4(BRCA1):c.301+8T>C	rs80358101	0.00054
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)	rs80356892	0.00046
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)	rs55906931	0.00034
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)	rs80357015	0.00032
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)	rs28897687	0.00031
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)	rs56012641	0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)	rs56187033	0.00029
NM_007294.4(BRCA1):c.548-17G>T	rs80358014	0.00028
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)	rs28897688	0.00027
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)	rs28897675	0.00026
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)	rs28897676	0.00023
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)	rs28897683	0.00021
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)	rs80356920	0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)	rs80357090	0.00021
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys)	rs55650082	0.00019
NM_007294.4(BRCA1):c.4484+14A>G	rs80358022	0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)	rs80357436	0.00019
NM_007294.4(BRCA1):c.5406+33A>T	rs80358092	0.00018
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)	rs28897690	0.00017
NM_007294.4(BRCA1):c.81-65G>C	rs80358117	0.00016
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu)	rs4986847	0.00013
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)	rs80357467	0.00012
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)	rs80357250	0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)	rs80357280	0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)	rs56195342	0.00011
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)	rs56039126	0.00007
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)	rs41286294	0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)	rs55746541	0.00006
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr)	rs28897682	0.00006
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)	rs55930959	0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)	rs80356923	0.00006
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)	rs80357191	0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)	rs28897691	0.00006
NM_007294.4(BRCA1):c.5278-14C>G	rs80358105	0.00006
NM_007294.4(BRCA1):c.795T>C (p.Ser265=)	rs201441987	0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly)	rs55874646	0.00006
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)	rs80357102	0.00005
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met)	rs80357345	0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)	rs80356860	0.00005
NM_007294.4(BRCA1):c.-19-3A>G	rs273898669	0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)	rs56272539	0.00004
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met)	rs80357374	0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)	rs273898682	0.00004
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)	rs55914168	0.00004
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val)	rs80356874	0.00004
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys)	rs80356955	0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)	rs55971303	0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)	rs80356991	0.00004
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His)	rs80357022	0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)	rs80357442	0.00004
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)	rs80357413	0.00003
NM_007294.4(BRCA1):c.4185+10G>C	rs80358104	0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly)	rs55680408	0.00003
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val)	rs80357271	0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)	rs80356876	0.00002
NM_007294.4(BRCA1):c.4097-11T>C	rs80358072	0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)	rs80356968	0.00002
NM_007294.4(BRCA1):c.5074+6C>G	rs80358032	0.00002
NM_007294.4(BRCA1):c.5153-6C>A	rs80358129	0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)	rs80357322	0.00002
NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly)	rs80357199	0.00002
NM_007294.4(BRCA1):c.891G>A (p.Met297Ile)	rs80357103	0.00002
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn)	rs56056711	0.00001
NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu)	rs56046357	0.00001
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His)	rs80357344	0.00001
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu)	rs80356912	0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)	rs80356927	0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)	rs80356911	0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile)	rs80357361	0.00001
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile)	rs80357228	0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser)	rs80357272	0.00001
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile)	rs56336919	0.00001
NM_007294.4(BRCA1):c.370A>G (p.Ile124Val)	rs80357448	0.00001
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr)	rs80357160	0.00001
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys)	rs80357457	0.00001
NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu)	rs80357218	0.00001
NM_007294.4(BRCA1):c.4097-10G>A	rs80358057	0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr)	rs80357365	0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr)	rs80357470	0.00001
NM_007294.4(BRCA1):c.463C>G (p.Gln155Glu)	rs80357180	0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)	rs80356943	0.00001
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)	rs80357048	0.00001
NM_007294.4(BRCA1):c.4985T>C (p.Phe1662Ser)	rs28897695	0.00001
NM_007294.4(BRCA1):c.4991T>C (p.Leu1664Pro)	rs80357314	0.00001
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)	rs80357325	0.00001
NM_007294.4(BRCA1):c.5153-13A>G	rs45471406	0.00001
NM_007294.4(BRCA1):c.716A>G (p.His239Arg)	rs80357396	0.00001
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del)	rs80358325
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.1703C>T (p.Pro568Leu)	rs80356910
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.1927A>G (p.Ser643Gly)	rs80357105
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr)	rs28897681
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=)	rs4986846
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val)	rs80356899
NM_007294.4(BRCA1):c.3341AAG[1] (p.Glu1115del)	rs80358336
NM_007294.4(BRCA1):c.3463G>C (p.Asp1155His)	rs80357484
NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala)	rs80357037
NM_007294.4(BRCA1):c.4097-141A>C	rs799916
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln)	rs80357309
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)	rs41293455
NM_007294.4(BRCA1):c.4636G>T (p.Asp1546Tyr)	rs28897691
NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys)	rs80356958
NM_007294.4(BRCA1):c.5152+85del	rs8176259
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly)	rs80357270
NM_007294.4(BRCA1):c.548-58del	rs8176144
NM_007294.4(BRCA1):c.81-13C>G	rs56328013
NM_007294.4(BRCA1):c.81-14C>T	rs80358006
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)	rs8176153

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