ClinVar Miner

Variants with conflicting interpretations studied for Breast-ovarian cancer, familial, susceptibility to, 3

Coded as:
Minimum review status of the submission for Breast-ovarian cancer, familial, susceptibility to, 3: Collection method of the submission for Breast-ovarian cancer, familial, susceptibility to, 3:
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
260 63 0 29 14 6 5 51

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 conditions
Breast-ovarian cancer, familial, susceptibility to, 3 pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 20 0 0 0 4
likely pathogenic 21 0 5 0 0 3
uncertain significance 0 4 0 14 1 0
likely benign 0 0 14 0 8 0
benign 0 0 1 8 0 0
risk factor 4 3 0 0 0 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition 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
Breast-ovarian cancer, familial, susceptibility to, 3 262 62 0 28 14 6 4 50
Breast-ovarian cancer, familial, susceptibility to, 1 0 0 0 1 0 0 1 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_058216.3(RAD51C):c.706-18T>C rs56401264 0.00047
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro) rs143026267 0.00017
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly) rs587781383 0.00006
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met) rs201523760 0.00006
NM_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_058216.3(RAD51C):c.635G>A (p.Arg212His) rs200857129 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_058216.3(RAD51C):c.746G>A (p.Arg249His) rs730881925 0.00002
NM_058216.3(RAD51C):c.837+1G>A rs760235677 0.00002
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.621T>A (p.His207Gln) rs786201848 0.00001
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) rs201529791 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_058216.3(RAD51C):c.905-2A>C rs779582317 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.145+1G>T rs757128712
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs) rs1598455598
NM_058216.3(RAD51C):c.230del (p.Gly77fs) rs1057519355
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs) rs2047958236
NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg) rs730881930
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.399dup (p.Leu134fs)
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs) rs1598460178
NM_058216.3(RAD51C):c.472dup (p.Ile158fs) rs2143746162
NM_058216.3(RAD51C):c.535del (p.His179fs) rs1555594864
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) rs876659188
NM_058216.3(RAD51C):c.829A>T (p.Arg277Ter)
NM_058216.3(RAD51C):c.851_854dup (p.Met286fs) rs1060502605
NM_058216.3(RAD51C):c.860del (p.Thr287fs) rs2143930383
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
Single allele

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