ClinVar Miner

Variants with conflicting interpretations studied for Monogenic Non-Syndromic Obesity

Coded as:
Minimum review status of the submission for Monogenic Non-Syndromic Obesity: Collection method of the submission for Monogenic Non-Syndromic Obesity:
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 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
90 7 0 12 20 0 0 32

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
Monogenic Non-Syndromic Obesity likely benign benign
uncertain significance 15 10
likely benign 0 12

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
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
not provided 0 4 0 12 19 0 0 31
not specified 0 4 0 6 5 0 0 11
LEPR-related condition 0 5 0 0 4 0 0 4
PCSK1-related condition 0 0 0 0 4 0 0 4
LEP-related condition 0 0 0 0 1 0 0 1
LEPTIN RECEPTOR POLYMORPHISM 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=) rs6233 0.38001
NM_000230.3(LEP):c.-39G>A rs2167270 0.37538
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_000439.5(PCSK1):c.-101T>C rs6230 0.20956
NM_000439.5(PCSK1):c.*265T>C rs3811942 0.20188
NM_000439.5(PCSK1):c.612C>T (p.Asn204=) rs6231 0.04494
NM_000230.3(LEP):c.280G>A (p.Val94Met) rs17151919 0.02565
NM_000230.3(LEP):c.*34G>A rs28954114 0.01449
NM_000439.5(PCSK1):c.1923G>A (p.Leu641=) rs6236 0.00661
NM_017526.5(LEPROT):c.21C>T (p.Leu7=) rs13306523 0.00623
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00535
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) rs61781316 0.00257
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) rs35573508 0.00192
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr) rs145685060 0.00069
NM_000439.5(PCSK1):c.1179T>C (p.Ala393=) rs142097318 0.00068
NM_002303.6(LEPR):c.3078T>C (p.Asn1026=) rs34130975 0.00054
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr) rs144710810 0.00043
NM_000439.5(PCSK1):c.1096-10C>T rs373951075 0.00039
NM_002303.6(LEPR):c.2698A>G (p.Ile900Val) rs142647085 0.00029
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189 0.00020
NM_000230.3(LEP):c.21C>T (p.Cys7=) rs201523305 0.00011
NM_000439.5(PCSK1):c.709+11G>A rs199951150 0.00010
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=) rs538803955 0.00006
NM_000439.5(PCSK1):c.1503C>T (p.Ile501=) rs199524465 0.00003
NM_002303.6(LEPR):c.921G>C (p.Gln307His) rs531183918 0.00001
NM_000439.5(PCSK1):c.-96C>T rs35753085
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_002303.6(LEPR):c.*60_*61insCTTTA rs75054066
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094

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