ClinVar Miner

Variants from Breast Cancer Information Core (BIC) (BRCA1) with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Breast Cancer Information Core (BIC) (BRCA1): Collection method of the submission from Breast Cancer Information Core (BIC) (BRCA1):
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
305 987 0 58 304 0 93 450

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.

All submitters
Breast Cancer Information Core (BIC) (BRCA1) pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 40 5 1 1
uncertain significance 71 45 0 199 201
benign 0 0 2 18 0

Submitter to submitter summary #

Total submitters: 56
Download table as spreadsheet
Submitter 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
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 765 0 6 172 0 33 211
Sharing Clinical Reports Project (SCRP) 0 361 0 5 140 0 33 178
Counsyl 0 227 0 33 106 0 16 155
Mendelics 0 30 0 6 58 0 8 72
BRCAlab, Lund University 0 151 0 4 45 0 19 68
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 611 0 0 0 0 47 47
Baylor Genetics 0 271 0 1 0 0 36 37
Illumina Laboratory Services, Illumina 0 42 0 6 30 0 0 36
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 44 0 4 28 0 2 34
Michigan Medical Genetics Laboratories, University of Michigan 0 56 0 1 31 0 1 33
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 56 0 0 25 0 1 26
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 65 0 0 18 0 3 21
Department of Medical and Surgical Sciences, University of Bologna 0 3 0 1 15 0 3 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 29 0 0 17 0 1 18
Pathway Genomics 0 18 0 2 15 0 1 18
Myriad Genetics, Inc. 0 2 0 0 11 0 2 13
Department of Pathology and Laboratory Medicine, Sinai Health System 0 23 0 0 9 0 2 11
Fulgent Genetics, Fulgent Genetics 0 4 0 1 8 0 1 10
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen 0 7 0 0 7 0 3 10
Department of Medical Genetics, Oslo University Hospital 0 74 0 2 0 0 8 9
Department of Medical Genetics, University Hospital of North Norway 0 2 0 0 5 0 3 8
Genetics and Molecular Pathology, SA Pathology 0 13 0 1 4 0 3 8
Institute of Human Genetics, University of Leipzig Medical Center 0 37 0 1 3 0 3 7
OMIM 0 30 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 0 5 0 0 5
MGZ Medical Genetics Center 0 20 0 1 0 0 3 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 33 0 0 0 0 4 4
Genologica Medica 0 19 0 0 0 0 4 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 41 0 0 0 0 3 3
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 28 0 1 0 0 2 3
Molecular Endocrinology Laboratory, Christian Medical College 0 16 0 0 0 0 3 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 0 2 0 0 2
King Laboratory, University of Washington 0 7 0 0 0 0 2 2
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 0 0 0 2 0 0 2
Breast Cancer Information Core (BIC) (BRCA1) 1737 3 0 0 1 0 1 2
Institute of Human Genetics, Medical University Innsbruck 0 14 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 1 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 0 0 0 0 0 1 1
emedgene Technologies 0 0 0 0 1 0 0 1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 1 0 0 1 0 0 1
Department of Medical Genetics, National Institute of Health 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 9 0 0 0 0 1 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 2 0 1 0 0 0 1
Cancer Prevention Center, Yonsei Cancer Center, Severance Hospital, Yonsei University College of Medicine 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 0 0 0 1 1
Department of Obstetrics and Gynecology, Helsinki University Hospital 0 0 0 1 0 0 1 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 6 0 0 0 0 1 1
deCODE genetics, Amgen 0 3 0 0 0 0 1 1
Medical Genetics, Medical University Pleven 0 3 0 0 0 0 1 1
Institute of Genomics, University of Tartu 0 7 0 0 0 0 1 1
Genome-Nilou Lab 0 1 0 0 0 0 1 1
3billion 0 0 0 0 0 0 1 1
DASA 0 10 0 0 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 10 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 6 0 0 0 0 1 1
Kong lab, Department of Laboratory Medicine, National Cancer Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 450
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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.3418A>G (p.Ser1140Gly) rs2227945 0.01054
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.5406+8T>C rs55946644 0.00514
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.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
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.1427A>G (p.His476Arg) rs55720177 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_007294.4(BRCA1):c.81-12C>G rs80358055 0.00066
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.5348T>C (p.Met1783Thr) rs55808233 0.00058
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.-20+11C>T rs273898672 0.00042
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.2368A>G (p.Thr790Ala) rs41286298 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.3929C>A (p.Thr1310Lys) rs80357257 0.00024
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833 0.00022
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
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.5005G>T (p.Ala1669Ser) rs80357087 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.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00017
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_007294.4(BRCA1):c.81-65G>C rs80358117 0.00016
NM_007294.4(BRCA1):c.5194-18G>T rs80358090 0.00014
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847 0.00013
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451 0.00013
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 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.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=) rs80356831 0.00007
NM_007294.4(BRCA1):c.5467+8G>A rs80358062 0.00007
NM_007294.4(BRCA1):c.593+3G>A rs80358013 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.2522G>A (p.Arg841Gln) rs80357337 0.00006
NM_007294.4(BRCA1):c.301+7G>A rs80358113 0.00006
NM_007294.4(BRCA1):c.3515A>G (p.Glu1172Gly) rs80357206 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.4213A>G (p.Ile1405Val) rs80357353 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.5176A>G (p.Arg1726Gly) rs80357501 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.2473G>T (p.Asp825Tyr) rs80357328 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.3454G>A (p.Asp1152Asn) rs80357175 0.00004
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His) rs80357022 0.00004
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457 0.00004
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909 0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00004
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser) rs80357088 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_007294.4(BRCA1):c.81-11del rs273902788 0.00004
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273 0.00003
NM_007294.4(BRCA1):c.1881C>G (p.Val627=) rs80356838 0.00003
NM_007294.4(BRCA1):c.212+21G>A rs80358147 0.00003
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.398G>A (p.Arg133His) rs80357357 0.00003
NM_007294.4(BRCA1):c.4185+10G>C rs80358104 0.00003
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg) rs28897674 0.00003
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761 0.00003
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe) rs80357394 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu) rs41286290 0.00002
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys) rs80356994 0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro) rs28897680 0.00002
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.3835G>A (p.Ala1279Thr) rs80357036 0.00002
NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys) rs80357202 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 0.00002
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=) rs41293453 0.00002
NM_007294.4(BRCA1):c.4676-7C>T rs80358005 0.00002
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His) rs80357341 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) rs80357169 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln) rs80357264 0.00002
NM_007294.4(BRCA1):c.5153-6C>A rs80358129 0.00002
NM_007294.4(BRCA1):c.5332+4A>G rs80358166 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.1081T>C (p.Ser361Pro) rs80356946 0.00001
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln) rs80356915 0.00001
NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu) rs56046357 0.00001
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964 0.00001
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr) rs80356859 0.00001
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser) rs80356902 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His) rs80357344 0.00001
NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr) rs80357129 0.00001
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu) rs80356912 0.00001
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) rs80356948 0.00001
NM_007294.4(BRCA1):c.2416G>A (p.Ala806Thr) rs80357144 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.2706_2707dup (p.Cys903fs) rs80357717 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.2931A>G (p.Pro977=) rs273899691 0.00001
NM_007294.4(BRCA1):c.2935C>T (p.Arg979Cys) rs80356970 0.00001
NM_007294.4(BRCA1):c.301+10G>A rs80358001 0.00001
NM_007294.4(BRCA1):c.3040A>T (p.Met1014Leu) rs80356933 0.00001
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val) rs80357311 0.00001
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00001
NM_007294.4(BRCA1):c.3220A>G (p.Arg1074Gly) rs80357263 0.00001
NM_007294.4(BRCA1):c.3367G>T (p.Asp1123Tyr) rs80356867 0.00001
NM_007294.4(BRCA1):c.3377C>T (p.Pro1126Leu) rs80356887 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.3711A>G (p.Ile1237Met) rs80357388 0.00001
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr) rs80357160 0.00001
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg) rs80357047 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.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr) rs55848034 0.00001
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg) rs80356986 0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_007294.4(BRCA1):c.4185+9C>T rs80358034 0.00001
NM_007294.4(BRCA1):c.4186-19C>T rs80358016 0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365 0.00001
NM_007294.4(BRCA1):c.4314C>G (p.Ala1438=) rs80356856 0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486 0.00001
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=) rs80356840 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val) rs80357095 0.00001
NM_007294.4(BRCA1):c.463C>G (p.Gln155Glu) rs80357180 0.00001
NM_007294.4(BRCA1):c.4675+7T>C rs273900739 0.00001
NM_007294.4(BRCA1):c.4676-16C>G rs80358067 0.00001
NM_007294.4(BRCA1):c.4730C>A (p.Ser1577Tyr) rs273901741 0.00001
NM_007294.4(BRCA1):c.4750G>T (p.Ala1584Ser) rs80357070 0.00001
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys) rs80357002 0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 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.5054C>T (p.Thr1685Ile) rs80357043 0.00001
NM_007294.4(BRCA1):c.5075-9A>T rs80358059 0.00001
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) rs80357325 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5152+10A>G rs80358114 0.00001
NM_007294.4(BRCA1):c.5153-13A>G rs45471406 0.00001
NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser) rs80357324 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.5332+15G>C rs80358148 0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041 0.00001
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474 0.00001
NM_007294.4(BRCA1):c.5406+5G>T rs80358073 0.00001
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser) rs80357286 0.00001
NM_007294.4(BRCA1):c.5467+1G>A rs80358145 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.5556C>G (p.Thr1852=) rs80356841 0.00001
NM_007294.4(BRCA1):c.593+9A>G rs80358133 0.00001
NM_007294.4(BRCA1):c.716A>G (p.His239Arg) rs80357396 0.00001
NM_007294.4(BRCA1):c.80+7C>T rs80358098 0.00001
NM_007294.4(BRCA1):c.996G>T (p.Arg332=) rs80356836 0.00001
NM_007294.4(BRCA1):c.-19-32AT[7] rs273898667
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>A (p.Cys39Ser) rs80357164
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu) rs80357253
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.124A>G (p.Ile42Val) rs80357163
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser) rs80357113
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.134+2T>G rs80358131
NM_007294.4(BRCA1):c.134+2del rs273897657
NM_007294.4(BRCA1):c.134+3A>C rs80358064
NM_007294.4(BRCA1):c.134+5G>A rs80358038
NM_007294.4(BRCA1):c.139dup (p.Cys47fs) rs80357734
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
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.181T>C (p.Cys61Arg) rs28897672
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
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.1866G>T (p.Ala622=) rs1800064
NM_007294.4(BRCA1):c.1893A>G (p.Leu631=) rs80356834
NM_007294.4(BRCA1):c.1895G>A (p.Ser632Asn) rs80356983
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys) rs80357005
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly) rs80357105
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.2105T>G (p.Leu702Ter) rs80357298
NM_007294.4(BRCA1):c.2130T>G (p.Thr710=) rs273898678
NM_007294.4(BRCA1):c.216C>A (p.Ser72Arg) rs80356967
NM_007294.4(BRCA1):c.2175C>T (p.Ser725=) rs273898680
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs) rs273898681
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.231G>T (p.Thr77=) rs80356847
NM_007294.4(BRCA1):c.243del (p.Gln81fs) rs273899684
NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs) rs273899686
NM_007294.4(BRCA1):c.2568T>C (p.Tyr856=) rs80356832
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2915del (p.Gly972fs) rs80357573
NM_007294.4(BRCA1):c.2917C>G (p.Leu973Val) rs80357080
NM_007294.4(BRCA1):c.2995C>T (p.Leu999=) rs80356848
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del) rs80358333
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr) rs80357111
NM_007294.4(BRCA1):c.301+2dup rs273899694
NM_007294.4(BRCA1):c.302-3C>G rs80358051
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly) rs80357190
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.3179A>C (p.Glu1060Ala) rs80357184
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.3327A>G (p.Lys1109=) rs41293449
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
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.3351dup (p.Gln1118fs) rs80357785
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr) rs80357297
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del) rs80358337
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro) rs80357101
NM_007294.4(BRCA1):c.3426A>G (p.Ala1142=) rs80356843
NM_007294.4(BRCA1):c.3463G>C (p.Asp1155His) rs80357484
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3603T>G (p.Gly1201=) rs80356830
NM_007294.4(BRCA1):c.3613G>A (p.Gly1205Arg) rs80357294
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
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.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3759T>G (p.Ser1253=) rs80356852
NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val) rs80357217
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.4(BRCA1):c.4026A>G (p.Ser1342=) rs80356828
NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs) rs483353092
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4074G>A (p.Glu1358=) rs80356846
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4097-141A>C rs799916
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4184A>G (p.Gln1395Arg) rs80356972
NM_007294.4(BRCA1):c.4185+10G>A rs80358104
NM_007294.4(BRCA1):c.4185+11TG[7] rs273900723
NM_007294.4(BRCA1):c.4185+1G>T rs80358076
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr) rs273900729
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.4(BRCA1):c.42C>A (p.Val14=) rs80356827
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.4636G>T (p.Asp1546Tyr) rs28897691
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.4(BRCA1):c.4657T>A (p.Leu1553Met) rs80357431
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4833C>T (p.Ala1611=) rs80356842
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) rs1799966
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
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.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+4A>T rs80358087
NM_007294.4(BRCA1):c.4986+5G>A rs397509211
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys) rs80357205
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
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.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5074+1G>T rs80358053
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) rs41293459
NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu) 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.5141T>G (p.Val1714Gly) rs80357243
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.5145C>G (p.Ser1715Arg) rs80357094
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5152+6T>C rs80358074
NM_007294.4(BRCA1):c.5152+7A>G rs80358046
NM_007294.4(BRCA1):c.5152+85del rs8176259
NM_007294.4(BRCA1):c.5153-1G>C rs80358137
NM_007294.4(BRCA1):c.5153-26A>G rs80358109
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
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.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr) rs80357283
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
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.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5359T>A (p.Cys1787Ser) rs80357065
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser) rs80357078
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5406+53A>T rs273901766
NM_007294.4(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.5407-10G>A rs273901767
NM_007294.4(BRCA1):c.5407-21C>T rs273901768
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg) rs80357040
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5464_5465insT (p.His1822fs) rs273902769
NM_007294.4(BRCA1):c.5468-10_5468-9del rs273902770
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.547+1G>A rs80358030
NM_007294.4(BRCA1):c.548-58del rs8176144
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.5532C>T (p.Leu1844=) rs80356829
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter) rs80356873
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.567T>C (p.Asp189=) rs80356845
NM_007294.4(BRCA1):c.61del (p.Ile21fs) rs273902778
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.670+8C>T rs80358050
NM_007294.4(BRCA1):c.671-12del rs273902781
NM_007294.4(BRCA1):c.671-18_671-16del rs398122354
NM_007294.4(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.4(BRCA1):c.773C>G (p.Pro258Arg) rs80357225
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.80+5G>A rs80358045
NM_007294.4(BRCA1):c.81-12del rs273902789
NM_007294.4(BRCA1):c.81-13C>A rs56328013
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.81-20C>T rs80358039
NM_007294.4(BRCA1):c.81-9C>G rs80358127
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.4(BRCA1):c.889A>C (p.Met297Leu) rs80357196
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro) rs80357252
Single allele

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