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:

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
3180 190 0 43 50 2 21 105

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
pathogenic 0 10 6 2 2 0
likely pathogenic 10 0 14 0 0 1
uncertain significance 7 15 0 50 7 0
likely benign 2 0 50 0 33 0
benign 2 0 7 33 0 1
association 0 1 0 0 1 0

All variants with conflicting interpretations #

Total variants: 105
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.1574-3777G>T rs2736100 0.52208
NM_198253.3(TERT):c.1951-205G>A rs10069690 0.34981
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00206
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00200
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_198253.3(TERT):c.1574-16G>C rs79698601 0.00163
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00095
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00086
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser) rs567650961 0.00084
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_198253.3(TERT):c.2130+10G>A rs373879259 0.00048
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00042
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00025
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00021
NM_198253.3(TERT):c.3257G>A (p.Arg1086His) rs200288187 0.00020
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.2371G>A (p.Val791Ile) rs141425941 0.00016
NM_198253.3(TERT):c.645C>T (p.Gly215=) rs768426236 0.00014
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln) rs144779807 0.00011
NM_198253.3(TERT):c.2320C>T (p.Arg774Ter) rs770066110 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417 0.00008
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00008
NM_198253.3(TERT):c.2127C>G (p.Val709=) rs765264494 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_198253.3(TERT):c.2654+10G>A rs375473823 0.00006
NM_198253.3(TERT):c.2141C>T (p.Thr714Met) rs772441504 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00005
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_198253.3(TERT):c.2255A>G (p.His752Arg) rs375699185 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.2652C>T (p.Leu884=) rs374309472 0.00004
NM_198253.3(TERT):c.2012G>A (p.Arg671Gln) rs774381540 0.00003
NM_198253.3(TERT):c.2145C>T (p.Gly715=) rs769467251 0.00003
NM_198253.3(TERT):c.2301A>G (p.Thr767=) rs374592280 0.00003
NM_198253.3(TERT):c.2744G>A (p.Gly915Asp) rs202033269 0.00003
NM_198253.3(TERT):c.2971-10G>T rs878855303 0.00003
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=) rs759883263 0.00003
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00003
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln) rs768168259 0.00002
NM_198253.3(TERT):c.2886C>T (p.Arg962=) rs542440625 0.00002
NM_198253.3(TERT):c.1043G>A (p.Ser348Asn) rs1279397908 0.00001
NM_198253.3(TERT):c.1552G>T (p.Ala518Ser) rs551522837 0.00001
NM_198253.3(TERT):c.1692G>A (p.Thr564=) rs377217777 0.00001
NM_198253.3(TERT):c.2005C>T (p.Arg669Trp) rs372140951 0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu) rs754809046 0.00001
NM_198253.3(TERT):c.2187C>T (p.Ile729=) rs200819224 0.00001
NM_198253.3(TERT):c.2225G>A (p.Arg742His) rs727503468 0.00001
NM_198253.3(TERT):c.2312C>T (p.Pro771Leu) rs1309399887 0.00001
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn) rs1169312254 0.00001
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) rs199422301 0.00001
NM_198253.3(TERT):c.2582+7C>A rs766415474 0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) rs199422304 0.00001
NM_198253.3(TERT):c.2702G>A (p.Arg901Gln) rs772974254 0.00001
NM_198253.3(TERT):c.2781A>G (p.Leu927=) rs370292237 0.00001
NM_198253.3(TERT):c.2844-11_2844-10del rs773793700 0.00001
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp) rs370445231 0.00001
NM_198253.3(TERT):c.3018G>C (p.Leu1006=) rs941352340 0.00001
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.456G>C (p.Leu152=) rs757121533 0.00001
NM_198253.3(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1364A>T (p.His455Leu) rs781329984
NM_198253.3(TERT):c.1381G>T (p.Val461Leu) rs1579596470
NM_198253.3(TERT):c.1401C>T (p.Ala467=) rs1751126189
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.1828C>T (p.Arg610Trp) rs747940807
NM_198253.3(TERT):c.1864C>T (p.Arg622Cys) rs1579577192
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.2273C>T (p.Ala758Val) rs2478267478
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.3(TERT):c.2329G>A (p.Val777Met) rs1554040129
NM_198253.3(TERT):c.2523C>G (p.Leu841=) rs1554039733
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys) rs372868296
NM_198253.3(TERT):c.2599G>A (p.Val867Met) rs201159197
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2658C>A (p.Thr886=) rs371744235
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.3(TERT):c.2912G>A (p.Arg971His) rs1748153358
NM_198253.3(TERT):c.2971-14C>T rs2126573743
NM_198253.3(TERT):c.483G>C (p.Leu161=) rs755155708
NM_198253.3(TERT):c.567C>A (p.His189Gln) rs747935528
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.3(TERT):c.696G>T (p.Leu232=) rs1033402019
NM_198253.3(TERT):c.777G>A (p.Pro259=) rs746036694
NM_198253.3(TERT):c.999CTC[1] (p.Ser335del) rs1170942980
Single allele

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