ClinVar Miner

Variants in gene MC4R 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
113 23 1 20 8 2 12 31

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 protective
pathogenic 0 17 11 0 3 1
likely pathogenic 17 0 5 0 0 0
uncertain significance 11 5 1 4 4 2
likely benign 0 0 4 0 3 1
benign 3 0 4 3 0 1
protective 1 0 2 1 1 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_005912.3(MC4R):c.335C>T (p.Thr112Met) rs13447329 0.00065
NM_005912.3(MC4R):c.468G>A (p.Gln156=) rs144393256 0.00060
NM_005912.3(MC4R):c.677T>C (p.Ile226Thr) rs193922686 0.00037
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) rs121913560 0.00016
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753 0.00014
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325 0.00013
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_005912.3(MC4R):c.972C>T (p.Gly324=) rs150448918 0.00011
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00003
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188 0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) rs747681609 0.00001
NM_005912.3(MC4R):c.496G>A (p.Val166Ile) rs942758928 0.00001
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) rs121913561 0.00001
NM_005912.3(MC4R):c.418del (p.Leu140fs) rs2143966828
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005912.3(MC4R):c.779C>A (p.Pro260Gln) rs1435358988
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg) rs1057517991
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) rs121913564

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