ClinVar Miner

Variants with conflicting interpretations studied for APC-Associated Polyposis Disorders

Coded as:
Minimum review status of the submission for APC-Associated Polyposis Disorders: Y axis collection method of the submission for APC-Associated Polyposis Disorders:
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
35 14 1 40 24 14 2 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
APC-Associated Polyposis Disorders pathogenic uncertain significance likely benign benign other
uncertain significance 0 0 11 2 0
likely benign 2 13 0 40 1
benign 0 0 0 1 13

Condition to condition summary #

Total conditions: 10
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 19 0 40 15 0 1 52
Hereditary cancer-predisposing syndrome 0 24 0 34 14 0 0 48
not specified 0 22 0 29 11 0 0 39
not provided 0 17 1 31 10 0 0 38
Familial colorectal cancer 0 0 0 0 0 14 0 14
Familial multiple polyposis syndrome 0 0 0 4 3 0 0 7
Colorectal adenoma 0 0 0 0 2 0 0 2
Gardner syndrome 0 0 0 0 0 0 1 1
Neoplasm of the liver 0 0 0 0 1 0 0 1
Pilocytic astrocytoma 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 68
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.*248A>G rs186777258
NM_000038.5(APC):c.*434C>T rs12189
NM_000038.5(APC):c.*86C>A rs1804197
NM_000038.5(APC):c.120G>A (p.Glu40=) rs142720069
NM_000038.5(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.5(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.5(APC):c.1488A>T (p.Thr496=) rs9282599
NM_000038.5(APC):c.1635G>A (p.Ala545=) rs351771
NM_000038.5(APC):c.1695A>G (p.Glu565=) rs77921116
NM_000038.5(APC):c.1722A>G (p.Glu574=) rs786201277
NM_000038.5(APC):c.1958+10G>T rs375175370
NM_000038.5(APC):c.1958+8T>C rs62626346
NM_000038.5(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.5(APC):c.2322C>T (p.Asp774=) rs145792879
NM_000038.5(APC):c.2586C>G (p.Asn862Lys) rs147972247
NM_000038.5(APC):c.2593C>T (p.Pro865Ser) rs192620988
NM_000038.5(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.5(APC):c.3165A>T (p.Ile1055=) rs61734287
NM_000038.5(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.5(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.5(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.5(APC):c.3468_3470delAGA (p.Glu1157del) rs386833391
NM_000038.5(APC):c.3471G>A (p.Glu1157=) rs143927847
NM_000038.5(APC):c.3732A>G (p.Gln1244=) rs74380081
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.4326T>A (p.Pro1442=) rs67622085
NM_000038.5(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000038.5(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.5(APC):c.4479G>A (p.Thr1493=) rs41115
NM_000038.5(APC):c.4833G>A (p.Gln1611=) rs762030106
NM_000038.5(APC):c.4893T>C (p.Ser1631=) rs35634377
NM_000038.5(APC):c.4905G>A (p.Gly1635=) rs137988845
NM_000038.5(APC):c.4913T>C (p.Met1638Thr) rs201797422
NM_000038.5(APC):c.5034G>A (p.Gly1678=) rs42427
NM_000038.5(APC):c.5250C>G (p.Val1750=) rs2229997
NM_000038.5(APC):c.5265G>A (p.Ala1755=) rs34506289
NM_000038.5(APC):c.5268T>G (p.Ser1756=) rs866006
NM_000038.5(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.5(APC):c.573T>C (p.Tyr191=) rs185154886
NM_000038.5(APC):c.5790A>G (p.Gln1930=) rs141152252
NM_000038.5(APC):c.5880G>A (p.Pro1960=) rs465899
NM_000038.5(APC):c.6387G>A (p.Ser2129=) rs374310157
NM_000038.5(APC):c.647G>A (p.Arg216Gln) rs76685252
NM_000038.5(APC):c.6492C>T (p.Gly2164=) rs765332758
NM_000038.5(APC):c.6525A>G (p.Thr2175=) rs200151646
NM_000038.5(APC):c.6526T>C (p.Leu2176=) rs183468041
NM_000038.5(APC):c.6609T>C (p.Val2203=) rs149328018
NM_000038.5(APC):c.6624A>G (p.Glu2208=) rs886059798
NM_000038.5(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.5(APC):c.6921G>A (p.Ser2307=) rs2229993
NM_000038.5(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.5(APC):c.7201C>T (p.Leu2401=) rs2229994
NM_000038.5(APC):c.7209G>A (p.Gln2403=) rs769603145
NM_000038.5(APC):c.7415C>T (p.Ala2472Val) rs200399245
NM_000038.5(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.5(APC):c.7704A>G (p.Gly2568=) rs35043160
NM_000038.5(APC):c.7781C>G (p.Ser2594Cys) rs543396310
NM_000038.5(APC):c.7821C>T (p.Ser2607=) rs532235331
NM_000038.5(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.5(APC):c.7903A>G (p.Thr2635Ala) rs886059799
NM_000038.5(APC):c.8043G>C (p.Pro2681=) rs149347068
NM_000038.5(APC):c.8100T>C (p.Asn2700=) rs761326128
NM_000038.5(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552

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