ClinVar Miner

Variants with conflicting interpretations studied for APC-related disorder

Minimum review status of the submission for APC-related disorder: Collection method of the submission for APC-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
118 117 0 51 69 0 2 104

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-related disorder likely pathogenic uncertain significance likely benign benign
pathogenic 2 1 0 0
uncertain significance 1 0 35 3
likely benign 0 32 0 40
benign 0 2 9 0

Condition to condition summary #

Total conditions: 7
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
not specified 0 79 0 36 38 0 0 69
not provided 0 126 0 30 47 0 2 68
APC-Associated Polyposis Disorders 0 13 0 4 9 0 0 13
Hereditary cancer 0 2 0 0 5 0 0 5
Colorectal cancer, susceptibility to 0 1 0 0 2 0 0 2
Inherited polyposis and early onset colorectal cancer - germline testing 0 2 0 2 0 0 0 2
Neoplasm of the liver 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 104
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127511.3(APC):c.166-28452G>C rs115242894 0.00443
NM_000038.6(APC):c.-19+512G>A rs550306841 0.00176
NM_000038.6(APC):c.423-16A>T rs78919815 0.00101
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000038.6(APC):c.3963C>T (p.Ser1321=) rs150595875 0.00051
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000038.6(APC):c.3739G>A (p.Ala1247Thr) rs148223181 0.00048
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539 0.00038
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898 0.00038
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641 0.00036
NM_000038.6(APC):c.1554G>A (p.Thr518=) rs546568052 0.00034
NM_000038.6(APC):c.5027G>C (p.Arg1676Thr) rs143674116 0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000038.6(APC):c.1488A>T (p.Thr496=) rs9282599 0.00023
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000038.6(APC):c.6637A>G (p.Met2213Val) rs186926737 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836 0.00017
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000038.6(APC):c.2640C>T (p.Ile880=) rs200184105 0.00013
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000038.6(APC):c.277C>G (p.Leu93Val) rs201567345 0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000038.6(APC):c.-43A>C rs879254014 0.00009
NM_000038.6(APC):c.1958+10G>T rs375175370 0.00009
NM_000038.6(APC):c.5025T>G (p.Val1675=) rs876658169 0.00009
NM_000038.6(APC):c.6525A>G (p.Thr2175=) rs200151646 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00009
NM_000038.6(APC):c.7781C>G (p.Ser2594Cys) rs543396310 0.00009
NM_000038.6(APC):c.-19+509G>A rs745770540 0.00008
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00008
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756 0.00007
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00007
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn) rs538230198 0.00007
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) rs575268622 0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) rs730881270 0.00006
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046 0.00006
NM_001127511.3(APC):c.125G>A (p.Gly42Asp) rs1057517570 0.00006
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00005
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479 0.00005
NM_000038.6(APC):c.7878T>G (p.Thr2626=) rs757020188 0.00005
NM_000038.6(APC):c.7986G>A (p.Glu2662=) rs571645304 0.00005
NM_000038.6(APC):c.2778T>C (p.Ser926=) rs371526966 0.00004
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser) rs730881244 0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) rs372418435 0.00004
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro) rs375586273 0.00004
NM_000038.6(APC):c.8042C>T (p.Pro2681Leu) rs182456139 0.00004
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828 0.00004
NM_000038.6(APC):c.995G>A (p.Arg332Gln) rs377665107 0.00004
NM_001127511.3(APC):c.133C>T (p.Arg45Cys) rs755954869 0.00004
NM_000038.6(APC):c.1241G>A (p.Arg414His) rs730881233 0.00003
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg) rs766739164 0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.6019T>C (p.Tyr2007His) rs745811356 0.00003
NM_000038.6(APC):c.5752A>G (p.Ile1918Val) rs776966222 0.00002
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys) rs587783036 0.00002
NM_001127511.3(APC):c.166-28443T>A rs751998391 0.00002
NM_000038.6(APC):c.1746A>G (p.Glu582=) rs876658969 0.00001
NM_000038.6(APC):c.2280A>G (p.Leu760=) rs767947015 0.00001
NM_000038.6(APC):c.2547T>C (p.Asp849=) rs766086010 0.00001
NM_000038.6(APC):c.2958T>C (p.Tyr986=) rs746581330 0.00001
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser) rs151286353 0.00001
NM_000038.6(APC):c.3653C>T (p.Thr1218Met) rs377640390 0.00001
NM_000038.6(APC):c.3909A>G (p.Gln1303=) rs746289994 0.00001
NM_000038.6(APC):c.4913T>C (p.Met1638Thr) rs201797422 0.00001
NM_000038.6(APC):c.4962T>C (p.Ala1654=) rs551322279 0.00001
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys) rs587779796 0.00001
NM_000038.6(APC):c.5712A>G (p.Gln1904=) rs755851369 0.00001
NM_000038.6(APC):c.597G>A (p.Ala199=) rs587780601 0.00001
NM_000038.6(APC):c.6453A>C (p.Thr2151=) rs1057524298 0.00001
NM_000038.6(APC):c.6487A>C (p.Lys2163Gln) rs759728732 0.00001
NM_000038.6(APC):c.7143A>C (p.Gln2381His) rs756153152 0.00001
NM_000038.6(APC):c.7284A>G (p.Glu2428=) rs876658194 0.00001
NM_000038.6(APC):c.759C>G (p.Gly253=) rs746850663 0.00001
NM_000038.6(APC):c.764A>G (p.His255Arg) rs530670052 0.00001
NM_000038.6(APC):c.7833A>G (p.Thr2611=) rs1057520909 0.00001
NM_000038.6(APC):c.8057T>C (p.Val2686Ala) rs757901425 0.00001
NM_000038.6(APC):c.918T>G (p.Ser306Arg) rs730881231 0.00001
NM_000038.6(APC):c.993G>A (p.Ser331=) rs148343173 0.00001
NM_000038.6(APC):c.*2AG[4] rs758692443
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1613A>T (p.Glu538Val) rs1561555761
NM_000038.6(APC):c.1743+1G>A rs761458613
NM_000038.6(APC):c.2094A>G (p.Leu698=) rs1426881729
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.423-6_423-4del rs730881230
NM_000038.6(APC):c.4770A>G (p.Lys1590=) rs973476980
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.5268T>A (p.Ser1756=) rs866006
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.7308A>G (p.Val2436=) rs1220693522
NM_000038.6(APC):c.841A>G (p.Thr281Ala) rs769727966
NM_000038.6(APC):c.933+5C>T rs573528468
NM_001127511.3(APC):c.-132G>T rs182500056

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.