ClinVar Miner

Variants in gene NSUN2 with conflicting interpretations

See also:
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
469 29 0 23 11 0 2 36

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 2 1 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 1 1 0 10 1
likely benign 0 0 10 0 21
benign 0 0 1 21 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017755.6(NSUN2):c.97-6C>T rs10076470 0.34106
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086 0.33934
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.16076
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434 0.14485
NM_017755.6(NSUN2):c.622+7A>T rs16877704 0.03788
NM_017755.6(NSUN2):c.1602-19A>G rs13171975 0.02921
NM_017755.6(NSUN2):c.1602-17_1602-15del rs139131959 0.01987
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943 0.01714
NM_017755.5(NSUN2):c.-193G>C rs8192123 0.01707
NM_017755.5(NSUN2):c.-340C>T rs147269098 0.01704
NM_017755.5(NSUN2):c.-189C>A rs8192122 0.01396
NM_017755.6(NSUN2):c.96+17G>A rs377145649 0.00582
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00445
NM_017755.6(NSUN2):c.612C>A (p.Val204=) rs148924682 0.00233
NM_017755.6(NSUN2):c.2223C>T (p.Pro741=) rs137999360 0.00213
NM_017755.6(NSUN2):c.537+8A>G rs149276590 0.00190
NM_017755.6(NSUN2):c.222C>T (p.Leu74=) rs138716662 0.00159
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_017755.6(NSUN2):c.1422G>A (p.Pro474=) rs1055478673 0.00021
NM_017755.6(NSUN2):c.915C>T (p.Arg305=) rs527650370 0.00021
NM_017755.6(NSUN2):c.762C>T (p.Asp254=) rs763930477 0.00016
NM_017755.6(NSUN2):c.1458T>C (p.His486=) rs200925761 0.00010
NM_017755.6(NSUN2):c.2259C>T (p.Asp753=) rs372574598 0.00003
NM_017755.6(NSUN2):c.174G>A (p.Val58=) rs745966593 0.00002
NM_017755.6(NSUN2):c.1222C>T (p.Arg408Ter) rs1221890051 0.00001
NM_017755.6(NSUN2):c.822C>T (p.Asp274=) rs141802308 0.00001
NM_017755.5(NSUN2):c.-217delT rs8192124
NM_017755.5(NSUN2):c.-73C>T rs139145592
NM_017755.6(NSUN2):c.1021+16_1021+19del rs374457414
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) rs1377452635
NM_017755.6(NSUN2):c.2022C>T (p.Pro674=) rs797045837
NM_017755.6(NSUN2):c.2194G>A (p.Val732Met)
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter) rs868442196
NM_017755.6(NSUN2):c.97-10C>T rs199959678

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