ClinVar Miner

Variants in gene TSEN54 with conflicting interpretations

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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
487 60 0 17 14 0 2 33

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 5 0 0 0
likely pathogenic 5 0 2 0 0
uncertain significance 0 2 0 13 1
likely benign 0 0 13 0 12
benign 0 0 1 12 0

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.285+32C>A rs7218675 0.64612
NM_207346.3(TSEN54):c.370-19C>A rs56895494 0.12137
NM_207346.3(TSEN54):c.521+39C>T rs57636645 0.06538
NM_207346.3(TSEN54):c.624-37A>C rs73998306 0.06523
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_207346.3(TSEN54):c.624-9G>A rs138719855 0.01485
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042 0.01362
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668 0.01002
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His) rs369805010 0.00193
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu) rs189860274 0.00084
NM_207346.3(TSEN54):c.285+12G>A rs373044979 0.00080
NM_207346.3(TSEN54):c.692C>T (p.Pro231Leu) rs141249409 0.00070
NM_207346.3(TSEN54):c.767G>A (p.Gly256Asp) rs200683263 0.00061
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00045
NM_207346.3(TSEN54):c.537G>A (p.Pro179=) rs113016401 0.00044
NM_207346.3(TSEN54):c.984T>C (p.Ala328=) rs776960594 0.00028
NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val) rs368377822 0.00019
NM_207346.3(TSEN54):c.1314-20G>A rs377740590 0.00008
NM_207346.3(TSEN54):c.468+8C>T rs117456384 0.00007
NM_207346.3(TSEN54):c.1430+4C>T rs202109896 0.00004
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) rs143604970 0.00003
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln) rs151332020 0.00003
NM_207346.3(TSEN54):c.370-2A>G rs762922379 0.00002
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val) rs774157225 0.00002
NM_207346.3(TSEN54):c.1074G>A (p.Glu358=) rs775864125 0.00001
NM_207346.3(TSEN54):c.1527C>T (p.Asp509=) rs201415896 0.00001
NM_207346.3(TSEN54):c.1120_1122delinsGGC (p.Arg374Gly) rs1555644694
NM_207346.3(TSEN54):c.315A>T (p.Ser105=)
NM_207346.3(TSEN54):c.370-9C>T rs797046056
NM_207346.3(TSEN54):c.547C>T (p.Gln183Ter) rs1555644470
NM_207346.3(TSEN54):c.789_798del (p.Leu264fs)

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