Variants with conflicting interpretations studied for Obesity

Minimum review status of the submission for Obesity:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission for Obesity:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version: 2024-03-31

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
146	5	1	3	4	3	6	15

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
Obesity		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	protective	risk factor
	pathogenic	0	3	5	0	0	0	0
	likely pathogenic	3	0	1	0	0	0	0
	uncertain significance	5	1	1	2	2	2	1
	likely benign	0	0	2	0	0	1	0
	benign	0	0	2	0	0	1	0
	protective	0	0	2	1	1	0	0
	risk factor	0	0	1	0	0	0	0

Condition to condition summary #

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
Obesity	146	5	1	3	4	3	6	15

All variants with conflicting interpretations #

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.677T>C (p.Ile226Thr)	rs193922686	0.00037
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)	rs121913563	0.00031
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.380C>T (p.Ser127Leu)	rs13447331	0.00008
NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe)	rs121909065	0.00006
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)	rs766665118	0.00003
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro)	rs376439188	0.00001
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln)	rs747681609	0.00001
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer)	rs770293321
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)	rs193922687