ClinVar Miner

Variants in gene TECPR2 with conflicting interpretations

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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
1157 127 0 28 29 0 2 58

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 9 2 0 0
likely pathogenic 9 0 0 0 0
uncertain significance 2 0 0 26 4
likely benign 0 0 26 0 19
benign 0 0 4 19 0

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val) rs10149146 0.25663
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val) rs45467297 0.03285
NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys) rs62000389 0.01415
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu) rs72700618 0.00388
NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr) rs144147210 0.00331
NM_014844.5(TECPR2):c.1470C>T (p.Ser490=) rs149584733 0.00245
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile) rs144870163 0.00140
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys) rs72700613 0.00114
NM_014844.5(TECPR2):c.1605C>T (p.Asn535=) rs145715326 0.00080
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys) rs144915346 0.00065
NM_014844.5(TECPR2):c.1833A>G (p.Thr611=) rs147716085 0.00063
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr) rs77170608 0.00051
NM_014844.5(TECPR2):c.3282G>A (p.Lys1094=) rs199835341 0.00036
NM_014844.5(TECPR2):c.516A>G (p.Pro172=) rs142385149 0.00036
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met) rs141697267 0.00032
NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu) rs149022686 0.00029
NM_014844.5(TECPR2):c.978C>T (p.Ser326=) rs142082203 0.00026
NM_014844.5(TECPR2):c.2280C>T (p.His760=) rs61744796 0.00021
NM_014844.5(TECPR2):c.3108G>A (p.Gln1036=) rs140351132 0.00019
NM_014844.5(TECPR2):c.3790-8G>A rs772801372 0.00011
NM_014844.5(TECPR2):c.4161G>A (p.Ser1387=) rs150885756 0.00011
NM_014844.5(TECPR2):c.846C>T (p.Cys282=) rs201691545 0.00011
NM_014844.5(TECPR2):c.3990C>T (p.Asn1330=) rs757779692 0.00010
NM_014844.5(TECPR2):c.1477C>T (p.Pro493Ser) rs150165045 0.00009
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg) rs772792595 0.00006
NM_014844.5(TECPR2):c.3477G>A (p.Arg1159=) rs2295975 0.00006
NM_014844.5(TECPR2):c.3999C>T (p.Leu1333=) rs556751486 0.00006
NM_014844.5(TECPR2):c.1180A>C (p.Arg394=) rs549744502 0.00005
NM_014844.5(TECPR2):c.1335C>T (p.Asn445=) rs778115838 0.00004
NM_014844.5(TECPR2):c.3507C>T (p.Ala1169=) rs775448295 0.00004
NM_014844.5(TECPR2):c.669A>C (p.Pro223=) rs750443286 0.00004
NM_014844.5(TECPR2):c.1203C>T (p.Ser401=) rs759378757 0.00003
NM_014844.5(TECPR2):c.2967G>A (p.Thr989=) rs1345090533 0.00003
NM_014844.5(TECPR2):c.351T>G (p.Leu117=) rs771585977 0.00003
NM_014844.5(TECPR2):c.999G>A (p.Ser333=) rs369972265 0.00003
NM_014844.5(TECPR2):c.1788A>G (p.Gly596=) rs1330988861 0.00002
NM_014844.5(TECPR2):c.1318_1319del (p.Leu440fs) rs765874018 0.00001
NM_014844.5(TECPR2):c.2700C>T (p.Ser900=) rs545614481 0.00001
NM_014844.5(TECPR2):c.3399G>A (p.Thr1133=) rs765318084 0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061 0.00001
NM_014844.5(TECPR2):c.879A>G (p.Ser293=) rs770891190 0.00001
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs) rs1359602238
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del) rs572609303
NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup) rs572609303
NM_014844.5(TECPR2):c.1751del (p.Gly584fs) rs1345546964
NM_014844.5(TECPR2):c.1872G>A (p.Ala624=) rs145129878
NM_014844.5(TECPR2):c.1944_1947del (p.Thr649fs) rs1595123894
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[3] rs3831019
NM_014844.5(TECPR2):c.2829del (p.Asn944fs) rs1889895576
NM_014844.5(TECPR2):c.2998G>T (p.Asp1000Tyr) rs1889962674
NM_014844.5(TECPR2):c.3456C>T (p.Ser1152=) rs199827410
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=) rs376646346
NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter) rs1891340555
NM_014844.5(TECPR2):c.423A>G (p.Lys141=) rs756199626
NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile) rs1888974156
NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter) rs1888974364
NM_014844.5(TECPR2):c.726A>T (p.Leu242=) rs748794723
NM_014844.5(TECPR2):c.774del (p.Asp259fs) rs772483312

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