ClinVar Miner

Variants with conflicting interpretations studied for Malignant melanoma of skin

Coded as:
Minimum review status of the submission for Malignant melanoma of skin: Y axis collection method of the submission for Malignant melanoma of skin:
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
2 124 3 115 0 13 44 154

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
Malignant melanoma of skin pathogenic likely pathogenic uncertain significance likely benign benign association drug response risk factor other
likely pathogenic 115 3 43 1 0 0 4 2 6
protective 0 0 0 0 1 1 0 0 0

Condition to condition summary #

Total conditions: 105
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
Li-Fraumeni syndrome 0 8 0 23 0 0 28 50
not provided 0 8 3 38 0 1 6 47
Hereditary cancer-predisposing syndrome 0 24 0 18 0 0 9 27
Cutaneous melanoma 0 17 0 26 0 0 0 26
Neoplasm of the large intestine 0 173 0 26 0 0 0 26
Non-small cell lung cancer 0 4 0 21 0 0 0 21
Neoplasm of the breast 0 131 0 12 0 0 0 12
Carcinoma of colon 0 1 0 9 0 0 0 9
Ovarian Neoplasms 0 40 0 9 0 0 0 9
Breast adenocarcinoma 0 0 0 7 0 0 0 7
Li-Fraumeni syndrome 1 0 3 0 6 0 0 0 6
Pilomatrixoma 0 1 0 6 0 0 0 6
Rasopathy 0 0 0 5 0 0 1 6
Acute myeloid leukemia 0 57 0 5 0 0 0 5
Epidermal nevus 0 0 0 5 0 0 0 5
Cardio-facio-cutaneous syndrome 0 0 0 4 0 0 0 4
Costello syndrome 0 1 0 4 0 0 0 4
Hepatoblastoma 0 0 0 4 0 1 0 4
Hepatocellular carcinoma 0 146 0 4 0 0 0 4
Hereditary cutaneous melanoma 0 0 0 1 0 0 3 4
Medulloblastoma 0 45 0 1 0 3 0 4
Neoplasm of ovary 0 0 0 4 0 0 0 4
Noonan syndrome 0 0 0 3 0 0 1 4
not specified 0 2 0 2 0 0 2 4
Congenital giant melanocytic nevus 0 0 0 3 0 0 0 3
Congenital giant melanocytic nevus; Epidermal nevus syndrome; Bladder cancer, somatic; Costello syndrome; Epidermal nevus; Follicular thyroid carcinoma 0 0 0 3 0 0 0 3
Lung adenocarcinoma 0 184 0 3 0 0 0 3
Lung cancer 0 1 0 3 0 0 0 3
Malignant tumor of prostate 0 1 0 0 0 0 3 3
McCune-Albright syndrome 0 0 0 3 0 0 0 3
Nevus sebaceous 0 0 0 3 0 0 0 3
Non-Hodgkin lymphoma 0 31 0 3 0 0 0 3
Ovarian epithelial cancer 0 0 0 3 0 0 0 3
PIK3CA related overgrowth spectrum 0 1 0 3 0 0 0 3
PTEN hamartoma tumor syndrome 0 0 0 2 0 0 1 3
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 0 0 0 2 0 0 0 2
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 0 0 0 2 0 0 0 2
Cowden syndrome 0 0 0 2 0 0 0 2
Cowden syndrome 1 0 0 0 2 0 0 0 2
Cushing's syndrome 0 0 0 2 0 0 0 2
Cutaneous malignant melanoma 3 0 0 0 1 0 2 0 2
Epidermal nevus syndrome 0 0 0 2 0 0 0 2
Focal cortical dysplasia type II 0 0 0 2 0 0 0 2
Follicular thyroid carcinoma 0 0 0 2 0 0 0 2
Inborn genetic diseases 0 0 0 2 0 0 0 2
Juvenile myelomonocytic leukemia 0 0 0 2 0 0 0 2
Keratosis, seborrheic 0 0 0 2 0 0 0 2
Megalencephaly cutis marmorata telangiectatica congenita 0 0 0 2 0 0 0 2
Neoplasm of stomach 0 0 0 2 0 0 0 2
Neoplasm of the thyroid gland 0 15 0 2 0 0 0 2
Neurocutaneous melanosis 0 0 0 2 0 0 0 2
PARP Inhibitor response 0 0 0 0 0 2 0 2
PITUITARY ADENOMA 3, MULTIPLE TYPES 0 0 0 2 0 0 0 2
Sex cord-stromal tumor 0 0 0 2 0 0 0 2
ADRENAL CORTICAL NEOPLASM 0 0 0 0 0 1 0 1
Anaplastic thyroid carcinoma 0 0 0 1 0 0 0 1
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma 0 0 0 1 0 0 0 1
Astrocytoma, low-grade, somatic 0 0 0 1 0 0 0 1
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 0 0 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 1 0 1 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 4 0 0 0 1 0 0 0 1
Cerebral arteriovenous malformation 0 0 0 1 0 0 0 1
Cowden syndrome 5 0 0 0 1 0 0 0 1
Cowden syndrome 6 0 0 0 0 0 0 1 1
Cystic epithelial invagination containing papillae lined by columnar epithelium 0 0 0 1 0 0 0 1
Desmoid tumor, somatic 0 0 0 1 0 0 0 1
Endometrial carcinoma 0 0 0 1 0 0 0 1
Epidermal nevus with urothelial cancer, somatic 0 0 0 1 0 0 0 1
Familial cancer of breast; Megalencephaly cutis marmorata telangiectatica congenita; Lung cancer; Congenital macrodactylia; Keratosis, seborrheic; Epidermal nevus; Neoplasm of ovary; Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma 0 0 0 1 0 0 0 1
Gastrointestinal stroma tumor 0 1 0 1 0 0 0 1
Gastrointestinal stromal tumor, familial 0 0 0 1 0 0 0 1
Germ cell tumor, nonseminomatous 0 0 0 1 0 0 0 1
Glioblastoma multiforme, somatic 0 0 0 1 0 0 0 1
Histone Methylation Therapy response 0 0 0 0 0 1 0 1
Hypertelorism; Megalencephaly; Diaphragmatic eventration; Abnormality of the hairline; Intestinal duplication 0 0 0 1 0 0 0 1
Juvenile myelomonocytic leukemia; Noonan syndrome 0 0 0 1 0 0 0 1
LEOPARD syndrome 2 0 0 0 1 0 0 0 1
LEOPARD syndrome 2; Noonan syndrome 5; Cardiomyopathy, dilated, 1NN 0 0 0 1 0 0 0 1
Li-Fraumeni-like syndrome 0 0 0 1 0 0 0 1
MACRODACTYLY, SOMATIC 0 0 0 1 0 0 0 1
Macrodactyly of toe; Stroke 0 0 0 1 0 0 0 1
Malignant Colorectal Neoplasm 0 0 0 1 0 0 0 1
Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria 0 0 0 1 0 0 0 1
Myelodysplastic syndrome progressed to acute myeloid leukemia 0 0 0 1 0 0 0 1
Myopathy, congenital, with excess of muscle spindles 0 0 0 1 0 0 0 1
NEVUS SPILUS, SOMATIC 0 0 0 1 0 0 0 1
Nasopharyngeal carcinoma 0 0 0 1 0 0 0 1
Nevus, woolly hair 0 0 0 1 0 0 0 1
Noonan syndrome 1 0 0 0 1 0 0 0 1
Noonan syndrome 5 0 0 0 1 0 0 0 1
Noonan syndrome 6 0 0 0 1 0 0 0 1
Noonan syndrome with multiple lentigines 0 0 0 1 0 0 0 1
Noonan syndrome with multiple lentigines; Noonan syndrome 0 0 0 1 0 0 0 1
Noonan syndrome; Cardio-facio-cutaneous syndrome 0 0 0 1 0 0 0 1
Osteosarcoma 0 1 0 1 0 0 0 1
Papillary thyroid carcinoma 0 0 0 1 0 0 0 1
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue 0 0 0 1 0 0 0 1
Proteus syndrome 0 0 0 1 0 0 0 1
RAS Inhibitor response 0 0 0 0 0 1 0 1
RAS-associated autoimmune leukoproliferative disorder 0 0 0 1 0 0 0 1
Rosette-forming glioneuronal tumor 0 0 0 1 0 0 0 1
SPITZ NEVUS, SOMATIC 0 0 0 1 0 0 0 1
Sarcoma 0 1 0 1 0 0 0 1
Skin/hair/eye pigmentation, variation in, 5 0 0 0 0 0 1 0 1
Wilms Tumor 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 154
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HGVS dbSNP
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.4(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.4(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys) rs11554273
NM_001077488.4(GNAS):c.605G>A (p.Arg202His) rs121913495
NM_001077488.4(GNAS):c.605G>T (p.Arg202Leu) rs121913495
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
NM_001126112.2(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_001126112.2(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_001126112.2(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_001126112.2(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_001126112.2(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_001126112.2(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_001126112.2(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_001126112.2(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_001126112.2(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_001126112.2(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_001126112.2(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_001126112.2(TP53):c.517G>A (p.Val173Met) rs876660754
NM_001126112.2(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_001126112.2(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_001126112.2(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_001126112.2(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_001126112.2(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_001126112.2(TP53):c.535C>A (p.His179Asn) rs587780070
NM_001126112.2(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_001126112.2(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_001126112.2(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_001126112.2(TP53):c.537T>G (p.His179Gln) rs876660821
NM_001126112.2(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_001126112.2(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_001126112.2(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_001126112.2(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_001126112.2(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_001126112.2(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_001126112.2(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_001126112.2(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_001126112.2(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_001126112.2(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_001126112.2(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_001126112.2(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001126112.2(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_001126112.2(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_001126112.2(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_001126112.2(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_001126112.2(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_001126112.2(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_001126112.2(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_001126112.2(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_001126112.2(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_001126112.2(TP53):c.833C>A (p.Pro278His) rs876659802
NM_001126112.2(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_001126112.2(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_001126112.2(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_001126112.2(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_001126112.2(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_001126112.2(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_001126112.2(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_001126112.2(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_001126112.2(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_001126112.2(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_001126112.2(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001126112.2(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_001126112.2(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_001126112.2(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_001126112.2(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_001126112.2(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001282386.1(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_001282386.1(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_001282386.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_001282386.1(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_001282386.1(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_001304718.2(PTEN):c.-363C>G rs121909224
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) rs121913413
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) rs1057519742
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) rs121913366
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004448.3(ERBB2):c.2263_2264delinsCC (p.Leu755Pro) rs121913469
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_016180.5(SLC45A2):c.1122= (p.Leu374=) rs16891982
NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_033360.4(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150

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