ClinVar Miner

Variants with conflicting interpretations studied for Malignant Melanoma Susceptibility

Coded as:
Minimum review status of the submission for Malignant Melanoma Susceptibility: Y axis collection method of the submission for Malignant Melanoma Susceptibility:
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
64 4 0 19 8 6 8 28

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 Susceptibility pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor
uncertain significance 0 0 0 1 0 0 0 0
likely benign 5 4 7 0 19 2 3 3
benign 0 0 0 0 0 0 2 0

Condition to condition summary #

Total conditions: 9
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
Cutaneous malignant melanoma 5 0 1 0 19 7 1 0 25
not provided 0 0 0 0 1 0 7 7
Skin/hair/eye pigmentation 2, red hair/fair skin 0 0 0 0 0 4 0 4
Increased analgesia from kappa-opioid receptor agonist, female-specific 0 0 0 0 0 2 0 2
OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF 0 0 0 0 0 2 0 2
Skin and Hair Hypopigmentation 0 0 0 0 0 0 2 2
Skin/hair/eye pigmentation 2, blond hair/fair skin 0 0 0 0 0 2 0 2
Tyrosinase-positive oculocutaneous albinism 0 0 0 0 0 0 2 2
not specified 0 10 0 2 0 0 0 2

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_002386.3(MC1R):c.178G>T (p.Val60Leu) rs1805005
NM_002386.3(MC1R):c.200G>A (p.Arg67Gln) rs34090186
NM_002386.3(MC1R):c.247T>C (p.Ser83Pro) rs34474212
NM_002386.3(MC1R):c.252C>A (p.Asp84Glu) rs1805006
NM_002386.3(MC1R):c.274G>A (p.Val92Met) rs2228479
NM_002386.3(MC1R):c.318G>A (p.Leu106=) rs3212364
NM_002386.3(MC1R):c.325C>T (p.Arg109Trp) rs546618600
NM_002386.3(MC1R):c.359T>C (p.Ile120Thr) rs33932559
NM_002386.3(MC1R):c.364G>A (p.Val122Met) rs201192930
NM_002386.3(MC1R):c.399C>T (p.Cys133=) rs201429598
NM_002386.3(MC1R):c.425G>A (p.Arg142His) rs11547464
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002386.3(MC1R):c.453C>G (p.Arg151=) rs201827012
NM_002386.3(MC1R):c.456C>A (p.Tyr152Ter) rs201326893
NM_002386.3(MC1R):c.464T>C (p.Ile155Thr) rs1110400
NM_002386.3(MC1R):c.466G>C (p.Val156Leu) rs3212365
NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) rs1805008
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.555C>T (p.His185=) rs199920775
NM_002386.3(MC1R):c.556G>A (p.Val186Met) rs773260532
NM_002386.3(MC1R):c.586T>C (p.Phe196Leu) rs3212366
NM_002386.3(MC1R):c.637C>T (p.Arg213Trp) rs200000734
NM_002386.3(MC1R):c.652G>A (p.Ala218Thr) rs200965363
NM_002386.3(MC1R):c.699G>A (p.Gln233=) rs146544450
NM_002386.3(MC1R):c.792C>T (p.Ile264=) rs181269865
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002386.3(MC1R):c.900C>T (p.Phe300=) rs3212367
NM_002386.3(MC1R):c.948C>T (p.Ser316=) rs151318945

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