ClinVar Miner

Variants in gene SETD2 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
975 54 0 27 18 0 0 43

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 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 10 8
likely benign 0 0 10 0 26
benign 0 0 8 26 0

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.4872T>A (p.Ser1624=) rs75763513 0.01071
NM_014159.7(SETD2):c.3249A>C (p.Thr1083=) rs80241480 0.00871
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val) rs75248784 0.00870
NM_014159.7(SETD2):c.557C>T (p.Pro186Leu) rs78759480 0.00723
NM_014159.7(SETD2):c.5271C>T (p.Leu1757=) rs144825663 0.00389
NM_014159.7(SETD2):c.2783C>G (p.Thr928Arg) rs72895708 0.00228
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=) rs74485823 0.00191
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu) rs9311404 0.00182
NM_014159.7(SETD2):c.3567C>T (p.Thr1189=) rs140803915 0.00131
NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala) rs114719990 0.00095
NM_014159.7(SETD2):c.1775C>A (p.Thr592Lys) rs115569620 0.00088
NM_014159.7(SETD2):c.3422C>T (p.Pro1141Leu) rs142723093 0.00088
NM_014159.7(SETD2):c.3097A>G (p.Thr1033Ala) rs145759179 0.00063
NM_014159.7(SETD2):c.1415G>A (p.Arg472His) rs201984344 0.00050
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) rs145650484 0.00047
NM_014159.7(SETD2):c.7164C>T (p.Thr2388=) rs144752494 0.00047
NM_014159.7(SETD2):c.1734A>T (p.Leu578Phe) rs138401612 0.00038
NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr) rs115788094 0.00034
NM_014159.7(SETD2):c.4060G>A (p.Asp1354Asn) rs138005965 0.00031
NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp) rs143991928 0.00031
NM_014159.7(SETD2):c.590C>T (p.Ala197Val) rs374950143 0.00029
NM_014159.7(SETD2):c.3484C>T (p.His1162Tyr) rs137871492 0.00028
NM_014159.7(SETD2):c.500C>T (p.Pro167Leu) rs78682369 0.00025
NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly) rs368132877 0.00022
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg) rs368465960 0.00010
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val) rs202209141 0.00010
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr) rs191985301 0.00008
NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys) rs369421455 0.00006
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp) rs115859828 0.00005
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr) rs114527197 0.00005
NM_014159.7(SETD2):c.2849G>A (p.Arg950His) rs149265978 0.00004
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu) rs775780402 0.00004
NM_014159.7(SETD2):c.2603A>G (p.Asp868Gly) rs201752182 0.00003
NM_014159.7(SETD2):c.6686T>G (p.Val2229Gly) rs377066147 0.00002
NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser) rs372521251 0.00001
NM_014159.7(SETD2):c.2819G>T (p.Gly940Val) rs751707090 0.00001
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile) rs2041416610 0.00001
NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys) rs771203643
NM_014159.7(SETD2):c.4918-78AC[17] rs61571386
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014159.7(SETD2):c.6110-27_6110-26del rs10589946
NM_014159.7(SETD2):c.6970G>T (p.Ala2324Ser) rs1162711197
NM_014159.7(SETD2):c.746C>T (p.Ser249Phe)

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