ClinVar Miner

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

Location: Germany  Primary collection method: research
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:
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
420 28 0 17 9 0 3 29

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
likely pathogenic 12 0 1 0 0
uncertain significance 0 2 0 2 0
likely benign 0 0 6 0 2
benign 0 0 1 3 0

Submitter to submitter summary #

Total submitters: 9
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
Invitae 0 16 0 6 9 0 3 18
University Health Network, Princess Margaret Cancer Centre 0 1 0 4 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 1 0 0 1 2
Database of Curated Mutations (DoCM) 0 5 0 2 0 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 0 1 0 0 0 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
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00024
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792 0.00008
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) rs55763607 0.00004
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro) rs80358577 0.00002
NM_000059.4(BRCA2):c.2364C>T (p.Gly788=) rs773035582 0.00001
NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr) rs80358666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005 0.00001
NM_000059.4(BRCA2):c.1645A>G (p.Lys549Glu) rs1555281997
NM_000059.4(BRCA2):c.277T>C (p.Ser93Pro) rs776730435
NM_000059.4(BRCA2):c.425+1G>A rs587782590
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.9421G>A (p.Gly3141Arg) rs1566259143
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
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_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_007294.4(BRCA1):c.1232A>T (p.Asp411Val) rs730881469
NM_007294.4(BRCA1):c.3681A>T (p.Gln1227His) rs730881488
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp) rs80357146
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477

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