ClinVar Miner

Variants with conflicting interpretations studied for PLA2G6-associated neurodegeneration

Coded as:
Minimum review status of the submission for PLA2G6-associated neurodegeneration: Collection method of the submission for PLA2G6-associated neurodegeneration:
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
54 40 0 27 18 0 21 66

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
PLA2G6-associated neurodegeneration pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0 0
likely pathogenic 20 0 2 0 0
uncertain significance 10 13 0 17 1
likely benign 0 0 0 0 4

Condition to condition summary #

Total conditions: 2
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
Infantile neuroaxonal dystrophy 0 40 0 27 18 0 20 65
PLA2G6-associated neurodegeneration 155 4 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00667
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=) rs147755372 0.00249
NM_003560.4(PLA2G6):c.990C>T (p.Phe330=) rs146241431 0.00155
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00090
NM_003560.4(PLA2G6):c.966C>T (p.His322=) rs144033740 0.00044
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) rs147948449 0.00039
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) rs141825182 0.00038
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) rs150024227 0.00034
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp) rs142530390 0.00028
NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu) rs147924368 0.00024
NM_003560.4(PLA2G6):c.396C>T (p.Arg132=) rs146252218 0.00018
NM_003560.4(PLA2G6):c.441G>A (p.Ala147=) rs371920697 0.00018
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00017
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr) rs528966598 0.00016
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=) rs200599704 0.00011
NM_003560.4(PLA2G6):c.2259C>T (p.Val753=) rs749966284 0.00011
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00009
NM_003560.4(PLA2G6):c.895-11G>A rs371094406 0.00008
NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=) rs373930150 0.00007
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=) rs150572286 0.00007
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00005
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) rs587784326 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_003560.4(PLA2G6):c.1187-1G>A rs1477656610 0.00003
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val) rs151108668 0.00003
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys) rs370691849 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003560.4(PLA2G6):c.895-5C>T rs372128546 0.00003
NM_003560.4(PLA2G6):c.1348+10G>A rs761202760 0.00002
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) rs121908681 0.00002
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr) rs139093920 0.00002
NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val) rs764957976 0.00002
NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn) rs778225931 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) rs587784330 0.00001
NM_003560.4(PLA2G6):c.1592-2A>C rs1465629909 0.00001
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098 0.00001
NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys) rs753874848 0.00001
NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu) rs769047790 0.00001
NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp) rs1043378899 0.00001
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp) rs368008077 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser) rs754204295 0.00001
NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys) rs1048444597 0.00001
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=) rs561645994 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr) rs751225193 0.00001
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys) rs1296348337 0.00001
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685 0.00001
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) rs121908682 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
NM_003560.4(PLA2G6):c.1186+1G>A rs761815070
NM_003560.4(PLA2G6):c.1591+5G>C rs1064796469
NM_003560.4(PLA2G6):c.1765_1768del (p.Ser589fs) rs1485023784
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter) rs775386225
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr) rs142715413
NM_003560.4(PLA2G6):c.610-1G>T rs1223788672
NM_003560.4(PLA2G6):c.755del (p.Asn252fs) rs587784361
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715

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