ClinVar Miner

Variants from German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne with conflicting interpretations

Location: Germany  Primary collection method: curation
Minimum review status of the submission from German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne: Collection method of the submission from German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
665 93 4 48 47 0 33 127

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
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 2 0 0 0
likely pathogenic 35 3 12 1 0
uncertain significance 12 11 0 2 0
likely benign 0 0 39 0 3
benign 0 0 6 8 0

Submitter to submitter summary #

Total submitters: 22
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
Labcorp Genetics (formerly Invitae), Labcorp 0 68 0 26 39 0 24 89
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 25 0 19 0 0 11 30
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 8 2 3 0 0 2 7
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 5 1 3 1 0 1 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 0 3 1 0 2 6
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 2 0 1 4 0 1 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 8 0 4 0 0 1 5
University Health Network, Princess Margaret Cancer Centre 0 1 0 4 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 3 0 0 0 3
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 0 11 0 3 0 0 0 3
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 3 0 1 1 0 0 2
Genetics Program, Instituto Nacional de Cancer 0 0 1 1 0 0 0 2
Mendelics 0 6 0 1 0 0 1 2
Breast Center, Key Laboratory of Carcinogenesis and Translational Research 0 0 0 0 0 0 1 1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 0 0 1 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 0 0 0 0 1 1
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 0 0 0 1 0 0 1
Dr. Peter K. Rogan Lab, Western University 0 1 0 0 1 0 0 1
GeneKor MSA 0 7 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 0 0 0 0 0 0 1 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 1 0 0 0 1
Western Connecticut Health Network, Rudy L. Ruggles Biomedical Research Institute 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 127
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00086
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00022
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792 0.00012
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_002878.4(RAD51D):c.185C>T (p.Ser62Leu) rs374357106 0.00005
NM_058216.3(RAD51C):c.870T>A (p.Ile290=) rs376402418 0.00005
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) rs55763607 0.00004
NM_000059.4(BRCA2):c.6847C>G (p.Pro2283Ala) rs80358909 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463 0.00002
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile) rs587782191 0.00002
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe) rs80359054 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_000059.4(BRCA2):c.2364C>T (p.Gly788=) rs773035582 0.00001
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro) rs80358577 0.00001
NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr) rs80358666 0.00001
NM_000059.4(BRCA2):c.517-2A>G rs81002858 0.00001
NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile) rs767567428 0.00001
NM_000059.4(BRCA2):c.6734T>A (p.Leu2245Gln) rs772795886 0.00001
NM_000059.4(BRCA2):c.681+1G>A rs398122565 0.00001
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter) rs876661261 0.00001
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln) rs80358973 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro) rs28897751 0.00001
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile) rs80359094 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.9647T>C (p.Leu3216Pro) rs431825377 0.00001
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr) rs397507435 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005 0.00001
NM_007294.4(BRCA1):c.4534A>T (p.Ser1512Cys) rs80357137 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5153-26A>G rs80358109 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala) rs397509298 0.00001
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val) rs80356865 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_000059.4(BRCA2):c.-40+2T>C rs1593879845
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.10176del (p.Glu3393fs) rs80359258
NM_000059.4(BRCA2):c.1645A>G (p.Lys549Glu) rs1555281997
NM_000059.4(BRCA2):c.2514A>C (p.Lys838Asn) rs2072459198
NM_000059.4(BRCA2):c.277T>C (p.Ser93Pro) rs776730435
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp) rs80358600
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly) rs80358627
NM_000059.4(BRCA2):c.3994C>T (p.His1332Tyr) rs863224588
NM_000059.4(BRCA2):c.425+1G>A rs587782590
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.4999T>A (p.Ser1667Thr) rs2137512613
NM_000059.4(BRCA2):c.516+2T>A rs397507764
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.539T>C (p.Ile180Thr) rs80358761
NM_000059.4(BRCA2):c.68-7del rs276174878
NM_000059.4(BRCA2):c.6847C>A (p.Pro2283Thr) rs80358909
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.7901T>A (p.Met2634Lys) rs786202102
NM_000059.4(BRCA2):c.8009C>G (p.Ser2670Trp) rs80359035
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000059.4(BRCA2):c.8204C>G (p.Pro2735Arg) rs730881564
NM_000059.4(BRCA2):c.8230A>G (p.Arg2744Gly) rs1555287055
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile) rs1434821822
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8378G>T (p.Gly2793Val) rs80359083
NM_000059.4(BRCA2):c.8456A>T (p.Asp2819Val) rs1555287655
NM_000059.4(BRCA2):c.8754+3G>C rs397508007
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu) rs1566253139
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly) rs431825373
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9118-1G>A rs886040950
NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly) rs80359182
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.4(BRCA2):c.9257-2A>G rs886040954
NM_000059.4(BRCA2):c.9284A>G (p.Asp3095Gly) rs1060502443
NM_000059.4(BRCA2):c.9421G>A (p.Gly3141Arg) rs1566259143
NM_000059.4(BRCA2):c.9698G>T (p.Cys3233Phe) rs398122620
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_002878.4(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007294.4(BRCA1):c.10T>C (p.Ser4Pro) rs876658707
NM_007294.4(BRCA1):c.1232A>T (p.Asp411Val) rs730881469
NM_007294.4(BRCA1):c.1391C>T (p.Thr464Ile) rs62625301
NM_007294.4(BRCA1):c.1400A>G (p.Lys467Arg) rs876659316
NM_007294.4(BRCA1):c.164A>G (p.Lys55Arg) rs2054786724
NM_007294.4(BRCA1):c.2687G>A (p.Ser896Asn) rs2053714262
NM_007294.4(BRCA1):c.3681A>T (p.Gln1227His) rs730881488
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4358-31_4358-27del rs776362840
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5076T>A (p.Asp1692Glu) rs2051937547
NM_007294.4(BRCA1):c.5162A>C (p.Gln1721Pro) rs2051867806
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr) rs80357104
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp) rs80357146
NM_007294.4(BRCA1):c.5425G>A (p.Val1809Ile) rs28897698
NM_007294.4(BRCA1):c.5431C>A (p.Gln1811Lys) rs397509283
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5587T>G (p.Tyr1863Asp) rs763740623
NM_007294.4(BRCA1):c.671-1G>T rs80358020
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) rs876659188

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