ClinVar Miner

Variants in gene AARS2 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 Variants with at least 2 submissions 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 kind of conflict
163 10 0 12 7 0 3 21

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
pathogenic 0 1 0 0 0
likely pathogenic 1 0 3 0 0
uncertain significance 0 3 0 5 3
likely benign 0 0 5 0 11
benign 0 0 3 11 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_020745.4(AARS2):c.*9C>T rs772455600
NM_020745.4(AARS2):c.1189-16_1189-14del rs144914586
NM_020745.4(AARS2):c.1192G>A (p.Ala398Thr) rs202171981
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser) rs113433939
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) rs146512155
NM_020745.4(AARS2):c.1752G>A (p.Glu584=) rs78525157
NM_020745.4(AARS2):c.1753-13T>C rs80339975
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149
NM_020745.4(AARS2):c.2007+8C>T rs150125794
NM_020745.4(AARS2):c.2188G>A (p.Val730Met) rs35623954
NM_020745.4(AARS2):c.2253G>A (p.Gly751=) rs78397386
NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln) rs35967387
NM_020745.4(AARS2):c.2440G>A (p.Val814Met) rs111325758
NM_020745.4(AARS2):c.2548A>G (p.Met850Val) rs35783144
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) rs112247130
NM_020745.4(AARS2):c.2679C>T (p.Leu893=) rs766642839
NM_020745.4(AARS2):c.268G>C (p.Val90Leu) rs863223860
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs) rs780343109
NM_020745.4(AARS2):c.420G>A (p.Gly140=) rs75506489
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu) rs115815965
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887

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