ClinVar Miner

Variants in gene TSEN54 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
113 20 3 13 6 0 2 23

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 3 1 1 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 1 1 0 6 0
likely benign 0 0 6 0 12
benign 0 0 0 12 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_207346.3(TSEN54):c.1027C>T (p.Gln343Ter) rs113994154
NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val) rs368377822
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly) rs201351319
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His) rs369805010
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=) rs138560086
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln) rs151332020
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro) rs113994151
NM_207346.3(TSEN54):c.285+12G>A rs373044979
NM_207346.3(TSEN54):c.285+32C>A rs7218675
NM_207346.3(TSEN54):c.285+9C>G rs200318170
NM_207346.3(TSEN54):c.370-19C>A rs56895494
NM_207346.3(TSEN54):c.521+39C>T rs57636645
NM_207346.3(TSEN54):c.537G>A (p.Pro179=) rs113016401
NM_207346.3(TSEN54):c.624-37A>C rs73998306
NM_207346.3(TSEN54):c.624-9G>A rs138719855
NM_207346.3(TSEN54):c.692C>T (p.Pro231Leu) rs141249409
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter) rs113994153
NM_207346.3(TSEN54):c.767G>A (p.Gly256Asp) rs200683263
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu) rs189860274
NM_207346.3(TSEN54):c.984T>C (p.Ala328=) rs776960594

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.