ClinVar Miner

Variants with conflicting interpretations studied for Peutz-Jeghers syndrome

Coded as:
Minimum review status of the submission for Peutz-Jeghers syndrome: Y axis collection method of the submission for Peutz-Jeghers syndrome:
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
314 222 0 50 62 0 9 105

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
Peutz-Jeghers syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 11 3 0 0
likely pathogenic 6 0 4 1 0
uncertain significance 1 4 0 53 12
likely benign 0 0 22 0 37
benign 0 0 3 2 0

Condition to condition summary #

Total conditions: 7
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
Hereditary cancer-predisposing syndrome 0 223 0 16 45 0 7 64
not specified 0 47 0 30 29 0 0 51
not provided 0 116 0 32 23 0 2 50
Peutz-Jeghers syndrome 545 73 0 6 16 0 2 23
Neoplasm 0 0 0 2 0 0 1 3
Inborn genetic diseases 0 0 0 1 0 0 0 1
Lung adenocarcinoma 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 105
Download table as spreadsheet
HGVS dbSNP
NM_000455.4(STK11):c.*8C>T rs587782259
NM_000455.4(STK11):c.-107dup rs927999961
NM_000455.4(STK11):c.-2G>T rs774072752
NM_000455.4(STK11):c.-461G>A rs552610464
NM_000455.4(STK11):c.1002C>T (p.Ser334=) rs1057521267
NM_000455.4(STK11):c.1035C>T (p.His345=) rs751619208
NM_000455.4(STK11):c.1038C>T (p.Gly346=) rs767565606
NM_000455.4(STK11):c.1039G>A (p.Ala347Thr) rs369744528
NM_000455.4(STK11):c.1041G>A (p.Ala347=) rs537906142
NM_000455.4(STK11):c.1045G>A (p.Glu349Lys) rs553752236
NM_000455.4(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000455.4(STK11):c.1088C>T (p.Thr363Ile) rs587778695
NM_000455.4(STK11):c.109C>T (p.Gln37Ter) rs121913324
NM_000455.4(STK11):c.1108+3G>A rs755746417
NM_000455.4(STK11):c.1109-14C>T rs780434041
NM_000455.4(STK11):c.1109-3C>T rs864622219
NM_000455.4(STK11):c.1109-5C>T rs587782020
NM_000455.4(STK11):c.1167C>G (p.Ala389=) rs547919101
NM_000455.4(STK11):c.1185A>G (p.Thr395=) rs370207155
NM_000455.4(STK11):c.1189G>T (p.Ala397Ser) rs587780008
NM_000455.4(STK11):c.1190C>T (p.Ala397Val) rs558040549
NM_000455.4(STK11):c.1193C>T (p.Ala398Val) rs768058962
NM_000455.4(STK11):c.1208A>G (p.Lys403Arg) rs587781633
NM_000455.4(STK11):c.120C>T (p.Arg40=) rs878853984
NM_000455.4(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000455.4(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.4(STK11):c.1226G>A (p.Arg409Gln) rs587782364
NM_000455.4(STK11):c.1245C>T (p.Arg415=) rs878853985
NM_000455.4(STK11):c.125G>T (p.Arg42Leu) rs148830698
NM_000455.4(STK11):c.1266C>T (p.Ser422=) rs751352435
NM_000455.4(STK11):c.1284G>A (p.Ser428=) rs369097329
NM_000455.4(STK11):c.155_157del (p.Gly52del) rs1131690917
NM_000455.4(STK11):c.156G>T (p.Gly52=) rs1060499953
NM_000455.4(STK11):c.189G>A (p.Val63=) rs1342321548
NM_000455.4(STK11):c.199del (p.Leu67fs) rs1555735014
NM_000455.4(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.4(STK11):c.264C>A (p.Ile88=) rs56354945
NM_000455.4(STK11):c.357C>T (p.Asn119=) rs372511774
NM_000455.4(STK11):c.369G>A (p.Gln123=) rs140112347
NM_000455.4(STK11):c.374+11C>T rs368923696
NM_000455.4(STK11):c.375-7G>A rs587781176
NM_000455.4(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000455.4(STK11):c.426C>T (p.Ser142=) rs758448869
NM_000455.4(STK11):c.45C>T (p.Gly15=) rs786201234
NM_000455.4(STK11):c.464+10C>T rs587782445
NM_000455.4(STK11):c.464+20delG rs730881960
NM_000455.4(STK11):c.464+3G>A rs1060499956
NM_000455.4(STK11):c.464+8C>T rs863224669
NM_000455.4(STK11):c.464+9G>A rs376313955
NM_000455.4(STK11):c.464G>A (p.Gly155Glu) rs1555737830
NM_000455.4(STK11):c.465-18G>T rs587781177
NM_000455.4(STK11):c.465-4G>A rs587780009
NM_000455.4(STK11):c.465-5C>T rs567202367
NM_000455.4(STK11):c.489C>T (p.Gly163=) rs1060499959
NM_000455.4(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.4(STK11):c.537G>A (p.Pro179=) rs528535500
NM_000455.4(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.4(STK11):c.543C>G (p.Asn181Lys) rs730881973
NM_000455.4(STK11):c.559G>A (p.Gly187Ser) rs587782032
NM_000455.4(STK11):c.564C>T (p.Gly188=) rs786201344
NM_000455.4(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.4(STK11):c.588C>T (p.Gly196=) rs769309428
NM_000455.4(STK11):c.594C>T (p.Ala198=) rs772940660
NM_000455.4(STK11):c.597+14del rs536282050
NM_000455.4(STK11):c.597+1G>T rs886039554
NM_000455.4(STK11):c.598-11C>T rs587782431
NM_000455.4(STK11):c.615G>A (p.Ala205=) rs532889728
NM_000455.4(STK11):c.618G>A (p.Ala206=) rs370976710
NM_000455.4(STK11):c.630C>A (p.Cys210Ter) rs786201213
NM_000455.4(STK11):c.632G>A (p.Arg211Gln) rs730881982
NM_000455.4(STK11):c.666C>T (p.Pro222=) rs542189325
NM_000455.4(STK11):c.717G>C (p.Trp239Cys) rs137853082
NM_000455.4(STK11):c.723T>C (p.Ala241=) rs533550278
NM_000455.4(STK11):c.725G>A (p.Gly242Glu) rs1568708382
NM_000455.4(STK11):c.734+19dupC rs730881962
NM_000455.4(STK11):c.734+20G>A rs375315233
NM_000455.4(STK11):c.735-6_735-2del rs759090799
NM_000455.4(STK11):c.750G>A (p.Thr250=) rs748112446
NM_000455.4(STK11):c.787T>C (p.Leu263=) rs372378119
NM_000455.4(STK11):c.795G>A (p.Glu265=) rs730881963
NM_000455.4(STK11):c.816C>T (p.Tyr272=) rs9282859
NM_000455.4(STK11):c.817G>A (p.Ala273Thr) rs587782199
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.4(STK11):c.828C>T (p.Gly276=) rs200824447
NM_000455.4(STK11):c.837C>T (p.Gly279=) rs373021819
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.4(STK11):c.863-6C>T rs757276643
NM_000455.4(STK11):c.876C>T (p.Tyr292=) rs148928808
NM_000455.4(STK11):c.890G>A (p.Arg297Lys) rs1568710381
NM_000455.4(STK11):c.894C>A (p.Phe298Leu) rs199681533
NM_000455.4(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.4(STK11):c.920+1G>A rs1131690920
NM_000455.4(STK11):c.920+7G>A rs2075607
NM_000455.4(STK11):c.921-10G>A rs183406870
NM_000455.4(STK11):c.921-8G>A rs863224362
NM_000455.4(STK11):c.921-9C>T rs761688641
NM_000455.4(STK11):c.944C>T (p.Pro315Leu) rs766958608
NM_000455.4(STK11):c.945G>A (p.Pro315=) rs376329042
NM_000455.4(STK11):c.957A>G (p.Pro319=) rs755126393
NM_000455.4(STK11):c.96C>G (p.Thr32=) rs79175212
NM_000455.4(STK11):c.970C>G (p.Pro324Ala) rs549474196
NM_000455.4(STK11):c.971C>T (p.Pro324Leu) rs367807476
NM_000455.4(STK11):c.992G>A (p.Arg331Gln) rs371264852
NM_000455.5(STK11):c.*16+10G>A rs587781180
NM_000455.5(STK11):c.863-5C>T

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