ClinVar Miner

Variants with conflicting interpretations studied for Breast-ovarian cancer, familial 4

Coded as:
Minimum review status of the submission for Breast-ovarian cancer, familial 4: Y axis collection method of the submission for Breast-ovarian cancer, familial 4:
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 Variants with at least 2 submissions 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 kind of conflict
105 187 0 28 37 2 5 68

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 4 pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 7 0 0 0 2
likely pathogenic 8 0 4 0 0 0
uncertain significance 0 3 0 26 3 0
likely benign 0 0 16 0 12 0
benign 0 0 1 12 0 0
risk factor 2 0 0 0 0 0

Condition to condition summary #

Total conditions: 8
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Hereditary cancer-predisposing syndrome 0 193 0 20 24 2 4 48
not specified 0 43 0 13 16 0 1 28
Breast-ovarian cancer, familial 4 309 30 0 11 6 2 2 21
not provided 0 78 0 8 9 2 2 21
Hereditary breast and ovarian cancer syndrome 0 23 0 1 6 1 1 9
Breast and Ovarian Cancer Susceptibility 0 1 0 5 3 0 0 8
Lynch syndrome I 0 0 0 0 0 0 1 1
Ovarian Neoplasms 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 68
Download table as spreadsheet
HGVS dbSNP
NM_002878.3(RAD51D):c.-238A>T rs188262287
NM_002878.3(RAD51D):c.12C>G (p.Leu4=) rs786203193
NM_002878.3(RAD51D):c.144+3G>T rs761057565
NM_002878.3(RAD51D):c.145-3C>T rs201974522
NM_002878.3(RAD51D):c.146C>T (p.Ala49Val) rs140317560
NM_002878.3(RAD51D):c.196G>A (p.Val66Met) rs56026142
NM_002878.3(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.3(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002878.3(RAD51D):c.216C>T (p.Tyr72=) rs148690585
NM_002878.3(RAD51D):c.22C>T (p.Leu8=) rs876659203
NM_002878.3(RAD51D):c.234C>T (p.Ser78=) rs9901455
NM_002878.3(RAD51D):c.263+1509C>T rs201506572
NM_002878.3(RAD51D):c.263+1570T>A rs376472075
NM_002878.3(RAD51D):c.263+1588A>G rs180869630
NM_002878.3(RAD51D):c.263+1605G>A rs147933658
NM_002878.3(RAD51D):c.26G>C (p.Cys9Ser) rs140825795
NM_002878.3(RAD51D):c.270_271dupTA (p.Lys91Ilefs) rs753862052
NM_002878.3(RAD51D):c.345+5A>G rs878854562
NM_002878.3(RAD51D):c.345+5A>T rs878854562
NM_002878.3(RAD51D):c.346-10C>T rs779972784
NM_002878.3(RAD51D):c.355T>C (p.Cys119Arg) rs201313861
NM_002878.3(RAD51D):c.363delA (p.Ala122Glnfs) rs730881935
NM_002878.3(RAD51D):c.394G>A (p.Val132Ile) rs201141245
NM_002878.3(RAD51D):c.413A>G (p.Asn138Ser) rs201676898
NM_002878.3(RAD51D):c.451C>T (p.Gln151Ter) rs587781756
NM_002878.3(RAD51D):c.480+6G>A rs1057523143
NM_002878.3(RAD51D):c.481-4T>G rs876659339
NM_002878.3(RAD51D):c.481-5T>G rs374382703
NM_002878.3(RAD51D):c.481-7G>A rs145832514
NM_002878.3(RAD51D):c.481-8C>T rs762247126
NM_002878.3(RAD51D):c.493C>T (p.Arg165Trp) rs544654228
NM_002878.3(RAD51D):c.494G>A (p.Arg165Gln) rs4796033
NM_002878.3(RAD51D):c.556C>T (p.Arg186Ter) rs387906843
NM_002878.3(RAD51D):c.568G>A (p.Ala190Thr) rs80116829
NM_002878.3(RAD51D):c.576+1G>A rs781161543
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_002878.3(RAD51D):c.630G>A (p.Ala210=) rs762585552
NM_002878.3(RAD51D):c.649G>T (p.Gly217Ter) rs775365939
NM_002878.3(RAD51D):c.655C>T (p.Gln219Ter) rs771007945
NM_002878.3(RAD51D):c.666A>G (p.Glu222=) rs114012742
NM_002878.3(RAD51D):c.668-4G>A rs1001440122
NM_002878.3(RAD51D):c.68A>G (p.His23Arg) rs990062370
NM_002878.3(RAD51D):c.695G>A (p.Arg232Gln) rs28363283
NM_002878.3(RAD51D):c.698A>G (p.Glu233Gly) rs28363284
NM_002878.3(RAD51D):c.715C>T (p.Arg239Trp) rs770250516
NM_002878.3(RAD51D):c.726C>T (p.Gly242=) rs1555567496
NM_002878.3(RAD51D):c.739-3C>T rs1235042092
NM_002878.3(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_002878.3(RAD51D):c.771C>T (p.Ser257=) rs146212490
NM_002878.3(RAD51D):c.792C>G (p.Leu264=) rs536544621
NM_002878.3(RAD51D):c.803G>A (p.Trp268Ter) rs750219200
NM_002878.3(RAD51D):c.81delA (p.Val28Trpfs) rs1064793952
NM_002878.3(RAD51D):c.864C>T (p.Gly288=) rs138557828
NM_002878.3(RAD51D):c.865G>A (p.Gly289Ser) rs587782129
NM_002878.3(RAD51D):c.869G>A (p.Arg290Gln) rs773883374
NM_002878.3(RAD51D):c.873C>T (p.Arg291=) rs140848654
NM_002878.3(RAD51D):c.878C>T (p.Ala293Val) rs769732230
NM_002878.3(RAD51D):c.885G>A (p.Leu295=) rs876659714
NM_002878.3(RAD51D):c.901C>T (p.Gln301Ter) rs1060502959
NM_002878.3(RAD51D):c.904-2A>T rs1403784434
NM_002878.3(RAD51D):c.904-3C>T rs45478491
NM_002878.3(RAD51D):c.904-6_904-4delTTC rs779850240
NM_002878.3(RAD51D):c.919G>A (p.Glu307Lys) rs115031549
NM_002878.3(RAD51D):c.922A>G (p.Met308Val) rs786201961
NM_002878.3(RAD51D):c.932T>A (p.Ile311Asn) rs145309168
NM_002878.3(RAD51D):c.94_95delGT (p.Val32Phefs) rs786203137
NM_002878.3(RAD51D):c.966A>G (p.Thr322=) rs786203299
NM_002878.3(RAD51D):c.983C>T (p.Thr328Ile) rs138969595

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.