ClinVar Miner

Variants in gene TERT 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
1304 28 2 8 6 2 5 17

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 association risk factor
pathogenic 2 1 1 2 2 0 0
likely pathogenic 1 0 1 0 0 0 0
uncertain significance 1 1 0 6 1 0 1
likely benign 2 0 6 0 7 0 1
benign 2 0 1 7 0 1 1
association 0 0 0 0 1 0 0
risk factor 0 0 1 1 1 0 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_198253.2(TERT):c.1951-205G>A rs10069690
NM_198253.2(TERT):c.2130+10G>A rs373879259
NM_198253.2(TERT):c.2769G>A (p.Pro923=) rs200174990
NM_198253.2(TERT):c.2775C>T (p.His925=) rs34528119
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1590G>C (p.Pro530=) rs1396912668
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666
NM_198253.3(TERT):c.2639C>T (p.Ala880Val)
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181

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