ClinVar Miner

Variants with conflicting interpretations studied for Melanoma, cutaneous malignant, susceptibility to, 5

Coded as:
Minimum review status of the submission for Melanoma, cutaneous malignant, susceptibility to, 5: Collection method of the submission for Melanoma, cutaneous malignant, susceptibility to, 5:
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 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
409 34 0 23 16 1 0 39

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
Melanoma, cutaneous malignant, susceptibility to, 5 uncertain significance likely benign benign risk factor
uncertain significance 0 13 4 0
likely benign 13 0 21 0
benign 4 23 0 1
risk factor 0 0 1 0

Condition to condition summary #

Total conditions: 2
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
Melanoma, cutaneous malignant, susceptibility to, 5 415 30 0 21 16 1 0 37
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 2; Increased analgesia from kappa-opioid receptor agonist, female-specific; Melanoma, cutaneous malignant, susceptibility to, 5 0 9 0 5 1 0 0 6

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.900C>T (p.Phe300=) rs3212367 0.01887
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_002386.4(MC1R):c.425G>A (p.Arg142His) rs11547464 0.00480
NM_002386.4(MC1R):c.466G>C (p.Val156Leu) rs3212365 0.00443
NM_002386.4(MC1R):c.948C>T (p.Ser316=) rs151318945 0.00223
NM_002386.4(MC1R):c.792C>T (p.Ile264=) rs181269865 0.00205
NM_002386.4(MC1R):c.819C>T (p.Cys273=) rs375813196 0.00148
NM_002386.4(MC1R):c.399C>T (p.Cys133=) rs201429598 0.00105
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr) rs33932559 0.00103
NM_002386.4(MC1R):c.309C>T (p.Ala103=) rs140650544 0.00087
NM_002386.4(MC1R):c.453C>G (p.Arg151=) rs201827012 0.00079
NM_002386.4(MC1R):c.247T>C (p.Ser83Pro) rs34474212 0.00069
NM_002386.4(MC1R):c.637C>T (p.Arg213Trp) rs200000734 0.00066
NM_002386.4(MC1R):c.284C>T (p.Thr95Met) rs34158934 0.00056
NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter) rs201326893 0.00056
NM_002386.4(MC1R):c.364G>A (p.Val122Met) rs201192930 0.00048
NM_002386.4(MC1R):c.133T>C (p.Phe45Leu) rs61996344 0.00039
NM_002386.4(MC1R):c.555C>T (p.His185=) rs199920775 0.00030
NM_002386.4(MC1R):c.200G>A (p.Arg67Gln) rs34090186 0.00024
NM_002386.4(MC1R):c.832A>G (p.Lys278Glu) rs201171524 0.00023
NM_002386.4(MC1R):c.332C>T (p.Ala111Val) rs201489928 0.00021
NM_002386.4(MC1R):c.492C>T (p.Ala164=) rs367985661 0.00016
NM_002386.4(MC1R):c.917G>A (p.Arg306His) rs368507952 0.00016
NM_002386.4(MC1R):c.497C>G (p.Ala166Gly) rs35040147 0.00013
NM_002386.4(MC1R):c.325C>T (p.Arg109Trp) rs546618600 0.00006
NM_002386.4(MC1R):c.101G>A (p.Arg34Gln) rs369016553 0.00004
NM_002386.4(MC1R):c.241G>C (p.Ala81Pro) rs772286882 0.00004
NM_002386.4(MC1R):c.556G>A (p.Val186Met) rs773260532 0.00004
NM_002386.4(MC1R):c.869A>G (p.Asn290Ser) rs373703770 0.00002
NM_002386.4(MC1R):c.66C>T (p.Pro22=) rs773395822 0.00001
NM_002386.4(MC1R):c.169G>A (p.Ala57Thr) rs201632257
NM_002386.4(MC1R):c.326G>A (p.Arg109Gln) rs760458744
NM_002386.4(MC1R):c.667C>T (p.Arg223Trp) rs372152373
NM_002386.4(MC1R):c.795C>G (p.Val265=) rs367998996
NM_002386.4(MC1R):c.815C>T (p.Thr272Met) rs12102534

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