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 Variants with at least 2 submissions 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 kind of conflict
406 41 14 17 12 2 13 45

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 14 1 8 3 3 0 1
likely pathogenic 1 0 4 1 1 0 0
uncertain significance 8 4 0 11 4 0 1
likely benign 3 1 11 0 16 0 1
benign 3 1 4 16 0 1 1
association 0 0 0 0 1 0 0
risk factor 1 0 1 1 1 0 0

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.1269C>A (p.Ala423=) rs190411812
NM_198253.2(TERT):c.1323_1325delGGA (p.Glu441del) rs377639087
NM_198253.2(TERT):c.1574-7G>A rs34846301
NM_198253.2(TERT):c.1659C>T (p.Val553=) rs35809415
NM_198253.2(TERT):c.1812A>G (p.Ala604=) rs33959226
NM_198253.2(TERT):c.1849C>T (p.Leu617=) rs140951453
NM_198253.2(TERT):c.1884C>T (p.Asp628=) rs143992655
NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.2(TERT):c.1950+10C>T rs33948291
NM_198253.2(TERT):c.1951-205G>A rs10069690
NM_198253.2(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.2(TERT):c.2080G>A (p.Val694Met) rs121918662
NM_198253.2(TERT):c.2110C>T (p.Pro704Ser) rs199422297
NM_198253.2(TERT):c.2130+10G>A rs373879259
NM_198253.2(TERT):c.2177C>T (p.Thr726Met) rs149566858
NM_198253.2(TERT):c.2178G>A (p.Thr726=) rs199422288
NM_198253.2(TERT):c.2240delT (p.Val747Alafs) rs199422300
NM_198253.2(TERT):c.2301A>G (p.Thr767=) rs374592280
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.2(TERT):c.2383-15C>T rs574645600
NM_198253.2(TERT):c.2391C>G (p.Ser797=) rs377216965
NM_198253.2(TERT):c.2431C>T (p.Arg811Cys) rs199422301
NM_198253.2(TERT):c.2455C>T (p.Arg819Cys) rs746621306
NM_198253.2(TERT):c.2517G>A (p.Thr839=) rs140124989
NM_198253.2(TERT):c.2520G>A (p.Leu840=) rs144310369
NM_198253.2(TERT):c.2582+7C>A rs766415474
NM_198253.2(TERT):c.2583-2A>C rs111576740
NM_198253.2(TERT):c.2594G>A (p.Arg865His) rs121918666
NM_198253.2(TERT):c.2654+10G>A rs375473823
NM_198253.2(TERT):c.2701C>T (p.Arg901Trp) rs199422304
NM_198253.2(TERT):c.2706G>C (p.Lys902Asn) rs121918665
NM_198253.2(TERT):c.2769G>A (p.Pro923=) rs200174990
NM_198253.2(TERT):c.2775C>T (p.His925=) rs34528119
NM_198253.2(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.2(TERT):c.3105C>T (p.Val1035=) rs181612536
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.3329C>T (p.Thr1110Met) rs199422306
NM_198253.2(TERT):c.430G>A (p.Val144Met) rs199422291
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.2(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181

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