ClinVar Miner

Variants in gene CHEK2 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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 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
1929 387 0 44 54 3 32 120

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.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 31 9 1 0 3
likely pathogenic 30 0 24 0 0 2
uncertain significance 9 24 0 51 8 1
likely benign 1 0 51 0 13 0
benign 0 0 8 13 0 0
risk factor 3 2 1 0 0 0

All variants with conflicting interpretations #

Total variants: 120
Download table as spreadsheet
HGVS dbSNP
NM_007194.4(CHEK2):c.*18C>T rs17884403
NM_007194.4(CHEK2):c.*2dup rs749257861
NM_007194.4(CHEK2):c.*5C>T rs587781367
NM_007194.4(CHEK2):c.*7T>C rs121908710
NM_007194.4(CHEK2):c.-4C>T rs374938148
NM_007194.4(CHEK2):c.-6G>A rs376995740
NM_007194.4(CHEK2):c.1008+8A>G rs139986197
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980
NM_007194.4(CHEK2):c.1095+8A>G rs1057522814
NM_007194.4(CHEK2):c.1096-4T>C rs587782840
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu) rs74751600
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.126T>A (p.Ser42=) rs1601853112
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu) rs1060502713
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del) rs876659422
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425
NM_007194.4(CHEK2):c.1461+12A>G rs886057328
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1462-7C>G rs730881707
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe) rs28909981
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) rs587781960
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1542+11T>A rs17881716
NM_007194.4(CHEK2):c.1542+3A>G rs1060502722
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp) rs751653049
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) rs769819013
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter) rs1555932341
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.319+1G>A rs765080766
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) rs200917541
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688
NM_007194.4(CHEK2):c.444+19T>C rs200501745
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.444+3A>G rs587781279
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.612G>T (p.Leu204=) rs752876192
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs) rs756131136
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.792+2T>C rs545982789
NM_007194.4(CHEK2):c.793-11G>A rs5997387
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.846T>C (p.His282=) rs987815892
NM_007194.4(CHEK2):c.847-10C>G rs745745105
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650
NM_007194.4(CHEK2):c.860del (p.Lys287fs) rs886039731
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007194.4(CHEK2):c.907T>C (p.Leu303=) rs752359705
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194
Single allele

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