ClinVar Miner

Variants with conflicting interpretations studied for Familial colorectal cancer

Coded as:
Minimum review status of the submission for Familial colorectal cancer: Y axis collection method of the submission for Familial colorectal cancer:
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
1028 38 0 3 16 23 3 44

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 colorectal cancer pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 2 0 0
likely pathogenic 2 0 0 1 1
uncertain significance 0 0 0 15 5
likely benign 0 0 1 0 0
other 1 0 4 2 17

Condition to condition summary #

Total conditions: 20
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
not specified 0 13 0 0 9 12 2 23
Hereditary cancer-predisposing syndrome 0 23 0 1 3 13 2 19
APC-Associated Polyposis Disorders 0 0 0 0 0 14 0 14
not provided 0 28 0 1 5 7 0 13
Colorectal cancer, susceptibility to, 12 0 25 0 0 12 0 0 12
Familial adenomatous polyposis 1 0 1 0 0 0 10 0 10
Colorectal cancer 10 0 11 0 0 4 0 0 4
Li-Fraumeni syndrome 0 0 0 0 0 0 2 2
MYH-associated polyposis 0 1 0 2 0 0 0 2
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 0 0 0 0 0 1 0 1
Carcinoma of colon 0 1 0 1 0 0 0 1
Cardiovascular phenotype 0 0 0 0 0 0 1 1
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 0 0 0 0 0 1 0 1
Familial adenomatous polyposis 0 0 0 0 0 1 0 1
Hereditary nonpolyposis colorectal cancer type 6 0 0 0 1 0 0 0 1
Li-Fraumeni syndrome 1 0 0 0 0 0 0 1 1
Loeys-Dietz syndrome 0 0 0 0 0 0 1 1
MUTYH-associated polyposis 0 2 0 1 0 0 0 1
Marfan syndrome 0 0 0 0 0 0 1 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.*1098T>C rs41116
NM_000038.5(APC):c.*1460C>T rs3733961
NM_000038.5(APC):c.*1556C>G rs448475
NM_000038.5(APC):c.*1753G>A rs397768
NM_000038.5(APC):c.*434C>T rs12189
NM_000038.5(APC):c.*86C>A rs1804197
NM_000038.5(APC):c.136-53T>C rs2304793
NM_000038.5(APC):c.1408+792A>T rs77551834
NM_000038.5(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.5(APC):c.1635G>A (p.Ala545=) rs351771
NM_000038.5(APC):c.190G>T (p.Gly64Ter) rs79323615
NM_000038.5(APC):c.1912A>G (p.Ile638Val) rs75117039
NM_000038.5(APC):c.1927T>C (p.Ser643Pro) rs78349383
NM_000038.5(APC):c.1958+8T>C rs62626346
NM_000038.5(APC):c.2385C>T (p.Leu795=) rs80188155
NM_000038.5(APC):c.423-16A>T rs78919815
NM_000038.5(APC):c.4479G>A (p.Thr1493=) rs41115
NM_000038.5(APC):c.5034G>A (p.Gly1678=) rs42427
NM_000038.5(APC):c.5268T>G (p.Ser1756=) rs866006
NM_000038.5(APC):c.5880G>A (p.Pro1960=) rs465899
NM_000038.5(APC):c.7049C>T (p.Ser2350Phe) rs75207119
NM_000038.5(APC):c.7513C>G (p.Arg2505Gly) rs79630786
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000546.5(TP53):c.566C>T (p.Ala189Val) rs121912665
NM_000546.5(TP53):c.974G>T (p.Gly325Val) rs121912659
NM_001128425.1(MUTYH):c.1147delC (p.Ala385Profs) rs587778536
NM_001128425.1(MUTYH):c.733C>T (p.Arg245Cys) rs200495564
NM_001256849.1(POLD1):c.2275G>A (p.Val759Ile) rs145473716
NM_002691.3(POLD1):c.2052G>C (p.Gln684His) rs144143245
NM_002691.3(POLD1):c.455C>T (p.Ala152Val) rs41563714
NM_002691.3(POLD1):c.589A>C (p.Ser197Arg) rs1040524947
NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_006231.3(POLE):c.1288G>A (p.Ala430Thr) rs140566004
NM_006231.3(POLE):c.139C>T (p.Arg47Trp) rs143626223
NM_006231.3(POLE):c.1534G>A (p.Ala512Thr) rs113998091
NM_006231.3(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.3(POLE):c.2602C>T (p.Leu868=) rs115830215
NM_006231.3(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.3(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.3(POLE):c.6331-8C>T rs769766403
NM_006231.3(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.3(POLE):c.6668A>G (p.Lys2223Arg) rs367970442
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.3(POLE):c.940T>G (p.Ser314Ala) rs770403791

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