ClinVar Miner

Variants with conflicting interpretations studied for POLE-related disorder

Minimum review status of the submission for POLE-related disorder: Collection method of the submission for POLE-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
7 181 0 43 57 0 7 89

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
POLE-related disorder pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 9 0 3 0 0
uncertain significance 4 2 0 23 4
likely benign 0 0 34 0 30
benign 0 0 0 4 0

Condition to condition summary #

Total conditions: 3
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 provided 0 194 0 30 46 0 5 75
not specified 0 77 0 22 27 0 2 42
Hereditary cancer 0 6 0 0 6 0 0 6

All variants with conflicting interpretations #

Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_006231.4(POLE):c.296C>T (p.Pro99Leu) rs5744739 0.00127
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00076
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00074
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00051
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala) rs5744948 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00036
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_006231.4(POLE):c.2602C>T (p.Leu868=) rs115830215 0.00033
NM_006231.4(POLE):c.6714C>T (p.Cys2238=) rs200082120 0.00033
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) rs113998091 0.00032
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser) rs137860861 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu) rs546499094 0.00022
NM_006231.4(POLE):c.672C>T (p.Tyr224=) rs376923206 0.00022
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00019
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu) rs373768478 0.00018
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.1597G>A (p.Val533Met) rs374140892 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr) rs200398117 0.00016
NM_006231.4(POLE):c.1740C>T (p.His580=) rs114972594 0.00014
NM_006231.4(POLE):c.1188G>A (p.Glu396=) rs371717068 0.00013
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00013
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00013
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_006231.4(POLE):c.3763T>C (p.Leu1255=) rs745838504 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_006231.4(POLE):c.1905C>T (p.Ile635=) rs145203544 0.00009
NM_006231.4(POLE):c.761C>T (p.Pro254Leu) rs200211438 0.00009
NM_006231.4(POLE):c.3378+7G>T rs755370377 0.00008
NM_006231.4(POLE):c.4719C>T (p.Leu1573=) rs115219846 0.00008
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_006231.4(POLE):c.1106+20A>G rs200322118 0.00006
NM_006231.4(POLE):c.2262C>T (p.Tyr754=) rs145337550 0.00006
NM_006231.4(POLE):c.3459+8C>T rs375852759 0.00006
NM_006231.4(POLE):c.155G>A (p.Arg52Gln) rs372459649 0.00005
NM_006231.4(POLE):c.330+3G>A rs369152225 0.00004
NM_006231.4(POLE):c.5378+5C>T rs1171630569 0.00004
NM_006231.4(POLE):c.6012C>T (p.Ile2004=) rs147806951 0.00004
NM_006231.4(POLE):c.2271C>T (p.Thr757=) rs765532123 0.00003
NM_006231.4(POLE):c.2598C>T (p.Cys866=) rs765653117 0.00003
NM_006231.4(POLE):c.4720G>A (p.Ala1574Thr) rs878854876 0.00003
NM_006231.4(POLE):c.6135C>T (p.Pro2045=) rs368662693 0.00003
NM_006231.4(POLE):c.129G>A (p.Lys43=) rs767554563 0.00002
NM_006231.4(POLE):c.270del (p.Asp90fs) rs878854854 0.00002
NM_006231.4(POLE):c.1308C>T (p.Pro436=) rs755627156 0.00001
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs) rs1060500792 0.00001
NM_006231.4(POLE):c.2707-9G>A rs1057521516 0.00001
NM_006231.4(POLE):c.3594C>T (p.Ala1198=) rs200803943 0.00001
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys) rs985504177 0.00001
NM_006231.4(POLE):c.5067A>G (p.Thr1689=) rs1256621322 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006231.4(POLE):c.-6G>A rs534524789
NM_006231.4(POLE):c.1106+7C>A rs369889926
NM_006231.4(POLE):c.1231G>C (p.Val411Leu) rs1057519945
NM_006231.4(POLE):c.1257G>A (p.Val419=) rs1565973352
NM_006231.4(POLE):c.1487del (p.Gly496fs) rs1555228358
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.4(POLE):c.2091dup (p.Phe699fs) rs752846614
NM_006231.4(POLE):c.2727G>A (p.Gln909=) rs1555226055
NM_006231.4(POLE):c.2T>G (p.Met1Arg) rs879254126
NM_006231.4(POLE):c.3415_3420delinsTG (p.Gly1138_Ser1139insTer) rs1555225201
NM_006231.4(POLE):c.4551+2_4551+3del rs1251654299
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.5265del (p.Ile1756fs) rs1555222342
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.6446G>A (p.Arg2149His) rs201165149
NM_006231.4(POLE):c.6538del (p.Ala2180fs) rs1566308645
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.804C>T (p.Asp268=) rs1593079711

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