ClinVar Miner

Variants with conflicting interpretations studied for Hereditary cutaneous melanoma

Coded as:
Minimum review status of the submission for Hereditary cutaneous melanoma: Y axis collection method of the submission for Hereditary cutaneous melanoma:
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
180 154 3 32 39 9 12 76

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
Hereditary cutaneous melanoma pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 8 2 0 0 7
likely pathogenic 3 0 1 0 0 1
uncertain significance 1 9 1 14 0 1
likely benign 0 0 21 0 12 0
benign 0 0 4 10 2 0

Condition to condition summary #

Total conditions: 20
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 0 154 0 14 20 0 9 43
not provided 0 77 3 9 14 0 2 28
not specified 0 37 0 10 10 0 1 20
Cutaneous malignant melanoma 2 0 8 0 1 0 8 0 9
Melanoma-pancreatic cancer syndrome 0 24 0 5 4 0 0 9
Cutaneous malignant melanoma 3 0 11 0 1 2 1 0 4
Malignant melanoma of skin 0 0 0 1 0 0 2 3
Adenocarcinoma of stomach 0 0 0 0 0 0 2 2
Cutaneous Malignant Melanoma, Dominant 0 0 0 0 2 0 0 2
Lung adenocarcinoma 0 0 0 1 0 0 1 2
Neoplasm 0 0 0 1 0 0 1 2
Pancreatic adenocarcinoma 0 0 0 0 0 0 2 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 2 2
Squamous cell carcinoma of the skin 0 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 0 1 1
Hereditary cutaneous melanoma 408 1 0 1 0 0 0 1
Multiple myeloma 0 0 0 1 0 0 0 1
Neoplasm of the large intestine 0 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 0 1 1
Transitional cell carcinoma of the bladder 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 76
Download table as spreadsheet
HGVS dbSNP
NM_000075.3(CDK4):c.122A>G (p.Asn41Ser) rs144890720
NM_000075.3(CDK4):c.267A>G (p.Val89=) rs886049715
NM_000075.3(CDK4):c.306A>C (p.Thr102=) rs201202764
NM_000075.3(CDK4):c.306A>G (p.Thr102=) rs201202764
NM_000075.3(CDK4):c.522+8G>A rs758294834
NM_000075.3(CDK4):c.523-4T>A rs587780667
NM_000075.3(CDK4):c.549C>T (p.Pro183=) rs778696237
NM_000075.3(CDK4):c.625C>T (p.Arg209Cys) rs140644696
NM_000075.3(CDK4):c.632+9C>T rs1192976748
NM_000075.3(CDK4):c.660C>T (p.Ala220=) rs773490152
NM_000075.3(CDK4):c.661G>A (p.Asp221Asn) rs587778187
NM_000075.3(CDK4):c.684-4A>T rs370609910
NM_000075.3(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.3(CDK4):c.764G>A (p.Arg255His) rs144657355
NM_000075.3(CDK4):c.776C>T (p.Ser259Leu) rs201617914
NM_000075.3(CDK4):c.779T>A (p.Val260Glu) rs200215596
NM_000075.3(CDK4):c.813G>A (p.Leu271=) rs1487727732
NM_000075.3(CDK4):c.834T>C (p.Phe278=) rs115576923
NM_000077.4(CDKN2A):c.-14C>T rs764244718
NM_000077.4(CDKN2A):c.-19353G>C rs1014358179
NM_000077.4(CDKN2A):c.-19413C>G rs528789830
NM_000077.4(CDKN2A):c.-19436C>T rs374360796
NM_000077.4(CDKN2A):c.-25C>T rs144481587
NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548
NM_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000077.4(CDKN2A):c.159G>C (p.Met53Ile) rs104894095
NM_000077.4(CDKN2A):c.167G>T (p.Ser56Ile) rs104894109
NM_000077.4(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.4(CDKN2A):c.172C>T (p.Arg58Ter) rs121913387
NM_000077.4(CDKN2A):c.174A>C (p.Arg58=) rs201208890
NM_000077.4(CDKN2A):c.174A>G (p.Arg58=) rs201208890
NM_000077.4(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.4(CDKN2A):c.197A>G (p.His66Arg) rs756750256
NM_000077.4(CDKN2A):c.198C>T (p.His66=) rs374984975
NM_000077.4(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.4(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098
NM_000077.4(CDKN2A):c.212A>G (p.Asn71Ser) rs559848002
NM_000077.4(CDKN2A):c.246G>A (p.Val82=) rs1060504181
NM_000077.4(CDKN2A):c.246G>C (p.Val82=) rs1060504181
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.4(CDKN2A):c.249C>A (p.His83Gln) rs34968276
NM_000077.4(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.4(CDKN2A):c.261G>A (p.Arg87=) rs546300971
NM_000077.4(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000077.4(CDKN2A):c.273G>A (p.Leu91=) rs4987127
NM_000077.4(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613
NM_000077.4(CDKN2A):c.300C>T (p.Ala100=) rs876660818
NM_000077.4(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.4(CDKN2A):c.318G>A (p.Val106=) rs199888003
NM_000077.4(CDKN2A):c.320G>A (p.Arg107His) rs370823171
NM_000077.4(CDKN2A):c.334C>G (p.Arg112Gly) rs876660436
NM_000077.4(CDKN2A):c.335_337dupGTC (p.Arg112_Leu113insArg) rs768966657
NM_000077.4(CDKN2A):c.342C>G (p.Pro114=) rs878853648
NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.4(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000077.4(CDKN2A):c.373G>C (p.Asp125His) rs146179135
NM_000077.4(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464
NM_000077.4(CDKN2A):c.384G>A (p.Arg128=) rs199901898
NM_000077.4(CDKN2A):c.402G>T (p.Ala134=) rs878853649
NM_000077.4(CDKN2A):c.405G>A (p.Gly135=) rs751586391
NM_000077.4(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891
NM_000077.4(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249
NM_000077.4(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000077.4(CDKN2A):c.51C>A (p.Ala17=) rs764362225
NM_000077.4(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097
NM_000077.4(CDKN2A):c.83T>G (p.Val28Gly) rs775176191
NM_000077.4(CDKN2A):c.87G>A (p.Arg29=) rs540871544
NM_000077.4(CDKN2A):c.95T>C (p.Leu32Pro) rs878853650
NM_001195132.1(CDKN2A):c.9_32dup (p.Pro11_Ser12insAlaAlaGlySerSerMetGluPro) rs587780668
NM_058195.3(CDKN2A):c.193+5G>A rs587782083
NM_058195.3(CDKN2A):c.194-4G>C rs529380972
NM_058195.3(CDKN2A):c.268C>G (p.Arg90Gly) rs762397298
NM_058195.3(CDKN2A):c.382G>A (p.Ala128Thr) rs575031539

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