ClinVar Miner

Variants in gene TMPRSS3 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 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
147 19 0 10 2 0 1 12

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 4 0 0 0
likely pathogenic 4 0 1 0 0
uncertain significance 0 1 0 2 1
likely benign 0 0 2 0 6
benign 0 0 1 6 0

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292
NM_001256317.3(TMPRSS3):c.1306G>A (p.Val436Ile) rs114904237
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432
NM_024022.3(TMPRSS3):c.1276G>A (p.Ala426Thr) rs56264519
NM_024022.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_024022.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921
NM_024022.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231
NM_024022.3(TMPRSS3):c.957G>C (p.Met319Ile) rs115223836

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