ClinVar Miner

Variants in gene ACAT1 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
581 62 0 49 19 0 9 75

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 45 2 0 0
likely pathogenic 45 0 8 0 0
uncertain significance 2 8 0 18 1
likely benign 0 0 18 0 4
benign 0 0 1 4 0

All variants with conflicting interpretations #

Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.941-14C>T rs12801620 0.00658
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724 0.00219
NM_000019.4(ACAT1):c.238+17C>T rs199918672 0.00182
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447 0.00020
NM_000019.4(ACAT1):c.858G>A (p.Leu286=) rs143892373 0.00014
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00010
NM_000019.4(ACAT1):c.239-8T>A rs202030208 0.00007
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788 0.00006
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875 0.00006
NM_000019.4(ACAT1):c.891G>A (p.Thr297=) rs372169445 0.00006
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208 0.00004
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000019.4(ACAT1):c.951C>T (p.Asp317=) rs747714452 0.00003
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141 0.00002
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893 0.00002
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143 0.00001
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093 0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639 0.00001
NM_000019.4(ACAT1):c.1191T>C (p.His397=) rs1439617035 0.00001
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000019.4(ACAT1):c.1200T>C (p.His400=) rs748749897 0.00001
NM_000019.4(ACAT1):c.138T>C (p.Ser46=) rs763375578 0.00001
NM_000019.4(ACAT1):c.171C>A (p.Gly57=) rs757128075 0.00001
NM_000019.4(ACAT1):c.30del (p.Ser10fs) rs1565281236 0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) rs1278227329 0.00001
NM_000019.4(ACAT1):c.378T>C (p.Cys126=) rs536301499 0.00001
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) rs1591363760 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325 0.00001
NM_000019.4(ACAT1):c.749del (p.Val250fs) rs1565293957 0.00001
NM_000019.4(ACAT1):c.826+1G>T rs727503796 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147 0.00001
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr) rs1338023969
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter) rs1367121673
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter) rs2134791667
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr) rs120074140
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp) rs746332363
NM_000019.4(ACAT1):c.121-3C>G rs1591361919
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.134dup (p.Ser46fs) rs1444451434
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.261dup (p.Glu88fs) rs1201662412
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) rs120074145
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs) rs2135356039
NM_000019.4(ACAT1):c.537del (p.Ile179fs) rs1415293773
NM_000019.4(ACAT1):c.571del (p.Ile191fs) rs761038005
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) rs541517496
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
NM_000019.4(ACAT1):c.64_72+10del rs1318268067
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe) rs879255505
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter) rs2134768525
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
NM_000019.4(ACAT1):c.824del (p.Asn275fs) rs1163072872
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys) rs886041122
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000019.4(ACAT1):c.905del (p.Lys302fs) rs398123097
NM_000019.4(ACAT1):c.921A>G (p.Thr307=) rs2077610591
NM_000019.4(ACAT1):c.940+1G>T rs1591371185
NM_000019.4(ACAT1):c.941-13T>C rs760991373

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.