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
86 6 2 8 5 2 7 17

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 6 7 0 0 0
likely pathogenic 6 0 1 0 0 0
uncertain significance 7 1 2 2 3 2
likely benign 0 0 2 0 2 1
benign 0 0 3 2 0 1
protective 0 0 2 1 1 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) rs747681609
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005912.3(MC4R):c.677T>C (p.Ile226Thr) rs193922686
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687

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