ClinVar Miner

Variants in gene MC1R with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
416 35 0 28 22 6 5 46

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.

pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor
pathogenic 0 1 2 2 1 1 1 1
likely pathogenic 1 0 3 2 1 0 1 0
uncertain significance 2 3 0 19 8 2 3 2
likely benign 2 2 19 0 27 2 3 2
benign 1 1 8 27 0 1 4 2
affects 1 0 2 2 1 0 2 2
association 1 1 3 3 4 2 0 2
risk factor 1 0 2 2 2 2 2 0

All variants with conflicting interpretations #

Total variants: 46
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.274G>A (p.Val92Met) rs2228479 0.06520
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_002386.4(MC1R):c.900C>T (p.Phe300=) rs3212367 0.01887
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
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.67C>T (p.Gln23Ter) rs201533137 0.00144
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.515G>T (p.Ser172Ile) rs376670171 0.00011
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.265G>C (p.Gly89Arg) rs34540312
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
NM_002386.4(MC1R):c.840del (p.Phe280fs) rs2045705764

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