ClinVar Miner

Variants with conflicting interpretations studied for TNF receptor-associated periodic fever syndrome (TRAPS)

Coded as:
Minimum review status of the submission for TNF receptor-associated periodic fever syndrome (TRAPS): Collection method of the submission for TNF receptor-associated periodic fever syndrome (TRAPS):
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
372 41 0 9 15 0 1 22

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.

All conditions
TNF receptor-associated periodic fever syndrome (TRAPS) pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 1
likely pathogenic 3 0 0 0 0
uncertain significance 1 0 0 14 3
likely benign 0 0 14 0 6
benign 1 0 3 6 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
TNF receptor-associated periodic fever syndrome (TRAPS) 372 41 0 9 15 0 1 22

All variants with conflicting interpretations #

Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) rs4149637 0.00574
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00236
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510 0.00113
NM_001065.4(TNFRSF1A):c.789T>C (p.Thr263=) rs201290189 0.00069
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) rs104895260 0.00036
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=) rs147075345 0.00020
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=) rs148334665 0.00018
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val) rs201062001 0.00011
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=) rs104895265 0.00010
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser) rs104895288 0.00005
NM_001065.4(TNFRSF1A):c.492C>T (p.Thr164=) rs373422284 0.00003
NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=) rs104895274 0.00002
NM_001065.4(TNFRSF1A):c.1058-8C>G rs764636915 0.00001
NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile) rs34751757 0.00001
NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=) rs201358363 0.00001
NM_001065.4(TNFRSF1A):c.1083C>T (p.Ala361=) rs746923911
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001065.4(TNFRSF1A):c.251G>A (p.Cys84Tyr) rs104895224
NM_001065.4(TNFRSF1A):c.295T>C (p.Cys99Arg) rs104895228
NM_001065.4(TNFRSF1A):c.472+7G>T rs200194581
NM_001065.4(TNFRSF1A):c.714G>A (p.Arg238=) rs200376188

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