ClinVar Miner

Variants with conflicting interpretations studied for Familial adenomatous polyposis

Coded as:
Minimum review status of the submission for Familial adenomatous polyposis: Y axis collection method of the submission for Familial adenomatous polyposis:
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
82 47 4 18 5 2 9 30

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
Familial adenomatous polyposis pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 1 12 6 1 1 0 1
likely pathogenic 3 0 2 0 0 0 0
uncertain significance 1 1 3 3 1 1 0
likely benign 0 0 2 0 3 0 0

Condition to condition summary #

Total conditions: 14
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
Familial adenomatous polyposis 1 0 42 1 12 2 1 8 21
not provided 0 33 3 9 5 1 4 17
Hereditary cancer-predisposing syndrome 0 40 0 6 1 1 6 13
not specified 0 5 0 1 2 0 2 5
Neoplasm of the large intestine 0 0 0 3 0 0 0 3
Colorectal cancer, susceptibility to 0 4 0 0 1 1 0 2
Adenomatous polyposis coli, susceptibility to 0 0 0 0 0 1 0 1
Breast cancer, susceptibility to 0 0 0 0 0 1 0 1
Carcinoma of colon 0 1 0 0 0 1 0 1
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 0 6 0 1 0 0 0 1
Familial colorectal cancer 0 0 0 0 0 1 0 1
Familial multiple polyposis syndrome 0 6 0 0 0 0 1 1
Lung adenocarcinoma 0 0 0 1 0 0 0 1
Neoplasm of the liver 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.1121G>A (p.Arg374Gln) rs141582813
NM_000038.6(APC):c.1246dup (p.Tyr416fs) rs1060503366
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1440A>C (p.Gln480His) rs863224537
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.190G>T (p.Gly64Ter) rs79323615
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.6(APC):c.1959-2A>G rs876658214
NM_000038.6(APC):c.2105G>A (p.Gly702Glu) rs876658289
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.6(APC):c.220G>T (p.Glu74Ter) rs876658941
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.288T>A (p.Tyr96Ter) rs376213437
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.6(APC):c.4831C>T (p.Gln1611Ter) rs774847203
NM_000038.6(APC):c.532-8G>A rs1060503323
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.835-4T>G rs756807560
NM_000038.6(APC):c.835-7T>G rs1554079128
NM_000038.6(APC):c.8416C>G (p.Pro2806Ala) rs587780608
NM_000038.6(APC):c.937_938del (p.Glu313fs) rs387906239

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