Variants with conflicting interpretations studied for Medium-chain acyl-coenzyme A dehydrogenase deficiency

Minimum review status of the submission for Medium-chain acyl-coenzyme A dehydrogenase deficiency:		Collection method of the submission for Medium-chain acyl-coenzyme A dehydrogenase deficiency:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

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
680	100	0	163	12	0	48	199

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.

	All conditions
Medium-chain acyl-coenzyme A dehydrogenase deficiency		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	155	28	1	0
	likely pathogenic	155	0	43	0	0
	uncertain significance	28	43	0	12	0
	likely benign	1	0	12	0	8
	benign	0	0	0	8	0

Condition to condition summary #

Total conditions: 1

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Condition	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
Medium-chain acyl-coenzyme A dehydrogenase deficiency	680	100	0	163	12	0	48	199

All variants with conflicting interpretations #

Total variants: 199

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HGVS	dbSNP	gnomAD frequency
NM_000016.6(ACADM):c.*77C>T	rs143911981	0.00658
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00347
NM_000016.6(ACADM):c.469-9A>G	rs181322317	0.00223
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)	rs147559466	0.00210
NM_000016.6(ACADM):c.468+71T>C	rs571856182	0.00191
NM_000016.6(ACADM):c.678A>G (p.Ala226=)	rs2229249	0.00120
NM_000016.6(ACADM):c.994C>T (p.Leu332=)	rs138098371	0.00093
NM_000016.6(ACADM):c.1194+11A>G	rs373059851	0.00084
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu)	rs139457557	0.00051
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)	rs121434280	0.00047
NM_000016.6(ACADM):c.600-18G>A	rs370523609	0.00046
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)	rs201375579	0.00016
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)	rs121434274	0.00013
NM_000016.6(ACADM):c.468+62C>T	rs875989870	0.00011
NM_000016.6(ACADM):c.210T>G (p.Thr70=)	rs778891510	0.00010
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)	rs762114560	0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)	rs121434278	0.00007
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr)	rs760892123	0.00006
NM_000016.6(ACADM):c.582C>T (p.Asn194=)	rs778535261	0.00006
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala)	rs373057729	0.00004
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)	rs759158371	0.00004
NM_000016.6(ACADM):c.287-10G>C	rs368875210	0.00004
NM_000016.6(ACADM):c.388-5G>A	rs759254037	0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His)	rs17848070	0.00004
NM_000016.6(ACADM):c.57T>C (p.His19=)	rs762984318	0.00004
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)	rs148207467	0.00003
NM_000016.6(ACADM):c.118+18T>A	rs755405418	0.00003
NM_000016.6(ACADM):c.388-14A>G	rs372525651	0.00003
NM_000016.6(ACADM):c.407C>T (p.Ala136Val)	rs750792245	0.00003
NM_000016.6(ACADM):c.426del (p.Lys143fs)	rs777998984	0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)	rs778906552	0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)	rs754359356	0.00003
NM_000016.6(ACADM):c.599+3A>G	rs375921211	0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)	rs747268471	0.00003
NM_000016.6(ACADM):c.1125A>G (p.Ile375Met)	rs201809827	0.00002
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)	rs139686925	0.00002
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)	rs757434857	0.00002
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)	rs398123072	0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His)	rs754938068	0.00002
NM_000016.6(ACADM):c.234T>G (p.Ile78Met)	rs1158457053	0.00002
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly)	rs758476299	0.00002
NM_000016.6(ACADM):c.617G>A (p.Arg206His)	rs200724875	0.00002
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly)	rs764268346	0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)	rs758111285	0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)	rs768884003	0.00002
NM_000016.6(ACADM):c.866T>C (p.Val289Ala)	rs1057520215	0.00002
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)	rs779759347	0.00002
NM_000016.6(ACADM):c.927C>T (p.Phe309=)	rs771550655	0.00002
NM_000016.6(ACADM):c.946-6T>G	rs765793260	0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs)	rs747610156	0.00002
NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter)	rs796051896	0.00001
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)	rs1648832587	0.00001
NM_000016.6(ACADM):c.1046G>A (p.Arg349Gln)	rs760335676	0.00001
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)	rs766140986	0.00001
NM_000016.6(ACADM):c.1073A>T (p.Lys358Met)	rs988752772	0.00001
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)	rs1057516278	0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp)	rs781424858	0.00001
NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr)	rs121434275	0.00001
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)	rs748110745	0.00001
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)	rs1337929727	0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)	rs753928772	0.00001
NM_000016.6(ACADM):c.216+5G>T	rs528788578	0.00001
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)	rs398123075	0.00001
NM_000016.6(ACADM):c.276A>G (p.Pro92=)	rs1212443202	0.00001
NM_000016.6(ACADM):c.296G>T (p.Gly99Val)	rs370608001	0.00001
NM_000016.6(ACADM):c.30+2T>C	rs768596219	0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)	rs746136472	0.00001
NM_000016.6(ACADM):c.342_343dup (p.Gly115fs)	rs1647188440	0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)	rs875989859	0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)	rs121434283	0.00001
NM_000016.6(ACADM):c.388-3T>G	rs764942250	0.00001
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg)	rs875989854	0.00001
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)	rs121434277	0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)	rs121434277	0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)	rs875989876	0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)	rs745844469	0.00001
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)	rs773677327	0.00001
NM_000016.6(ACADM):c.599+1G>A	rs866388216	0.00001
NM_000016.6(ACADM):c.599+2T>C	rs148260275	0.00001
NM_000016.6(ACADM):c.599+5G>A	rs875989861	0.00001
NM_000016.6(ACADM):c.601del (p.Tyr201fs)	rs772650083	0.00001
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)	rs751829413	0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)	rs373715782	0.00001
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg)	rs753627680	0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)	rs770273135	0.00001
NM_000016.6(ACADM):c.708G>C (p.Lys236Asn)	rs1185026485	0.00001
NM_000016.6(ACADM):c.709-13A>G	rs746483754	0.00001
NM_000016.6(ACADM):c.709-1G>A	rs941714381	0.00001
NM_000016.6(ACADM):c.717C>G (p.Asn239Lys)	rs1348176225	0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)	rs373852490	0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)	rs121434281	0.00001
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)	rs780504551	0.00001
NM_000016.6(ACADM):c.849+2T>C	rs780737237	0.00001
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)	rs768452911	0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His)	rs529894272	0.00001
NM_000016.6(ACADM):c.946-2A>C	rs758753966	0.00001
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)	rs875989865
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser)	rs1323513432
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val)	rs771978135
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)	rs1648832398
NM_000016.6(ACADM):c.1042del (p.Arg348fs)	rs2100453109
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu)	rs760335676
NM_000016.6(ACADM):c.1049_1055dup (p.Tyr352Ter)	rs2525698959
NM_000016.6(ACADM):c.1059T>C (p.Tyr353=)
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)	rs875989875
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)	rs387906297
NM_000016.6(ACADM):c.1120C>T (p.Gln374Ter)	rs2100453612
NM_000016.6(ACADM):c.118+114A>G	rs875989868
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg)	rs776312173
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)	rs1462472677
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs)	rs875989860
NM_000016.6(ACADM):c.1226_1227del (p.Leu409fs)	rs2525706737
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)	rs1361089796
NM_000016.6(ACADM):c.1237C>A (p.Arg413Ser)	rs139686925
NM_000016.6(ACADM):c.1250_1256del (p.Asp417fs)	rs2525706936
NM_000016.6(ACADM):c.130C>T (p.Gln44Ter)	rs2525572000
NM_000016.6(ACADM):c.165del (p.Phe55fs)	rs1319192670
NM_000016.6(ACADM):c.1A>G (p.Met1Val)	rs1057516778
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter)	rs754833969
NM_000016.6(ACADM):c.216+1G>T	rs1057516801
NM_000016.6(ACADM):c.217-1G>A	rs1570861829
NM_000016.6(ACADM):c.217-2A>G	rs1647169738
NM_000016.6(ACADM):c.224del (p.Val75fs)	rs1057516480
NM_000016.6(ACADM):c.232dup (p.Ile78fs)	rs2100363479
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr)	rs1448376709
NM_000016.6(ACADM):c.24C>A (p.Cys8Ter)	rs2100332723
NM_000016.6(ACADM):c.253G>C (p.Gly85Arg)	rs398123075
NM_000016.6(ACADM):c.260T>C (p.Met87Thr)	rs767649048
NM_000016.6(ACADM):c.287-1G>C	rs794727694
NM_000016.6(ACADM):c.287-2A>G	rs1057518677
NM_000016.6(ACADM):c.30+1G>C	rs1647021342
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)	rs2100365750
NM_000016.6(ACADM):c.322_325del (p.Ile108fs)	rs875989873
NM_000016.6(ACADM):c.331G>A (p.Glu111Lys)	rs772061007
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)	rs875989863
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala)	rs1647188699
NM_000016.6(ACADM):c.355dup (p.Val119fs)	rs1553123071
NM_000016.6(ACADM):c.356T>A (p.Val119Asp)	rs1553123077
NM_000016.6(ACADM):c.383dup (p.Leu128fs)	rs1647189225
NM_000016.6(ACADM):c.387+1del	rs786204424
NM_000016.6(ACADM):c.387+2T>C	rs2525578687
NM_000016.6(ACADM):c.388-19T>A	rs1553123252
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)	rs1570866192
NM_000016.6(ACADM):c.3G>C (p.Met1Ile)	rs1553121887
NM_000016.6(ACADM):c.423_425del (p.Lys144del)	rs886042087
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)	rs875989857
NM_000016.6(ACADM):c.437del (p.Leu146fs)	rs749529577
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)	rs786204642
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)	rs1553123263
NM_000016.6(ACADM):c.468+1G>A	rs776498263
NM_000016.6(ACADM):c.468+7A>G
NM_000016.6(ACADM):c.472T>C (p.Tyr158His)	rs1570876467
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys)	rs1553123858
NM_000016.6(ACADM):c.47del (p.Ser16fs)	rs1325949559
NM_000016.6(ACADM):c.494C>T (p.Ala165Val)	rs1260394550
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr)	rs200754053
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)	rs200754053
NM_000016.6(ACADM):c.530A>G (p.Glu177Gly)	rs2525609038
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)	rs1553123869
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)	rs1553123872
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr)	rs1647480996
NM_000016.6(ACADM):c.567del (p.Met190fs)	rs1309892323
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala)	rs121434279
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr)	rs1647485086
NM_000016.6(ACADM):c.599+8G>T
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)	rs2525609535
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)	rs1553124735
NM_000016.6(ACADM):c.603T>A (p.Tyr201Ter)	rs992092720
NM_000016.6(ACADM):c.613G>C (p.Ala205Pro)	rs1324329442
NM_000016.6(ACADM):c.614C>T (p.Ala205Val)	rs1647865251
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)	rs200724875
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr)	rs983879715
NM_000016.6(ACADM):c.624T>C (p.Asp208=)	rs886046523
NM_000016.6(ACADM):c.653C>A (p.Ala218Asp)	rs764268346
NM_000016.6(ACADM):c.65C>A (p.Ser22Ter)	rs1325609596
NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)	rs1570851702
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)	rs149678400
NM_000016.6(ACADM):c.686del (p.Pro229fs)	rs1647873033
NM_000016.6(ACADM):c.709-2A>C	rs1553125211
NM_000016.6(ACADM):c.742A>G (p.Arg248Gly)	rs875989867
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys)	rs780510026
NM_000016.6(ACADM):c.773C>T (p.Pro258Leu)	rs1022879056
NM_000016.6(ACADM):c.778_782del (p.Glu260fs)	rs2100417619
NM_000016.6(ACADM):c.799G>C (p.Gly267Arg)	rs121434274
NM_000016.6(ACADM):c.799G>T (p.Gly267Ter)	rs121434274
NM_000016.6(ACADM):c.817_829del (p.Ala273fs)	rs875989872
NM_000016.6(ACADM):c.842G>C (p.Arg281Thr)	rs121434282
NM_000016.6(ACADM):c.850-2A>G	rs761317029
NM_000016.6(ACADM):c.86G>T (p.Arg29Leu)	rs769906625
NM_000016.6(ACADM):c.882_883del (p.Arg294fs)	rs796051901
NM_000016.6(ACADM):c.890A>G (p.Asp297Gly)	rs1293309607
NM_000016.6(ACADM):c.926dup (p.Gly310fs)	rs875989864
NM_000016.6(ACADM):c.927del (p.Phe309fs)	rs1557458562
NM_000016.6(ACADM):c.949C>G (p.Gln317Glu)	rs1057516564
NM_000016.6(ACADM):c.957_958del (p.Ser320fs)	rs1057517103
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter)	rs1057516485
NM_000016.6(ACADM):c.977T>C (p.Met326Thr)	rs786204631
NM_000016.6(ACADM):c.982A>G (p.Met328Val)	rs1648825926
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)	rs1225471006

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