Variants with conflicting interpretations studied for Maple syrup urine disease

Minimum review status of the submission for Maple syrup urine disease:		Collection method of the submission for Maple syrup urine disease:
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)
		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
1650	174	0	144	42	0	48	214

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
Maple syrup urine disease		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	122	34	0	0
	likely pathogenic	121	0	31	0	0
	uncertain significance	34	30	0	31	4
	likely benign	0	0	41	0	22
	benign	0	0	4	21	0

Condition to condition summary #

Total conditions: 2

Download table as spreadsheet

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
Maple syrup urine disease	1685	152	0	142	32	0	47	201
Maple syrup urine disease type 1A	0	51	0	21	19	0	3	42

All variants with conflicting interpretations #

Total variants: 214

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)	rs12021720	0.87100
NM_000709.3(BCKDHA):c.-34T>G	rs45500792	0.09943
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)	rs11549936	0.07892
NM_001918.5(DBT):c.1281+6T>G	rs140115881	0.01022
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)	rs34541442	0.00893
NM_001918.5(DBT):c.724T>C (p.Ser242Pro)	rs146249007	0.00864
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)	rs34442879	0.00790
NM_001918.5(DBT):c.1282-13_1282-9del	rs761681999	0.00456
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)	rs55940366	0.00365
NM_001918.5(DBT):c.76T>C (p.Cys26Arg)	rs145674833	0.00302
NM_183050.4(BCKDHB):c.742+16A>G	rs140373763	0.00220
NM_001918.5(DBT):c.753C>T (p.Asp251=)	rs79292123	0.00179
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)	rs17173144	0.00103
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)	rs146932786	0.00092
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)	rs143427811	0.00086
NM_001918.5(DBT):c.327C>T (p.Thr109=)	rs138796800	0.00078
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)	rs374403946	0.00062
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)	rs386834233	0.00061
NM_000709.4(BCKDHA):c.289-5C>T	rs200646708	0.00053
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)	rs61736656	0.00052
NM_001918.5(DBT):c.1210-11T>A	rs751951997	0.00049
NM_000709.4(BCKDHA):c.288C>T (p.His96=)	rs148571328	0.00043
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)	rs142858149	0.00039
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)	rs140322984	0.00038
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)	rs142967869	0.00029
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)	rs147719822	0.00026
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)	rs185492864	0.00025
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)	rs137960127	0.00024
NM_001918.5(DBT):c.37A>G (p.Asn13Asp)	rs140308307	0.00024
NM_001918.5(DBT):c.1210-8A>T	rs535837017	0.00023
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)	rs74103423	0.00022
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)	rs147021347	0.00021
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)	rs150177278	0.00021
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)	rs371343548	0.00019
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=)	rs368345065	0.00019
NM_183050.4(BCKDHB):c.987C>T (p.His329=)	rs138670449	0.00019
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)	rs143608852	0.00016
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	rs398124598	0.00015
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	rs137852870	0.00013
NM_001918.5(DBT):c.747C>A (p.Gly249=)	rs200612682	0.00013
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	rs121964999	0.00011
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)	rs775471043	0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)	rs79761867	0.00010
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)	rs368567109	0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	rs398123508	0.00009
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp)	rs373336888	0.00009
NM_000709.4(BCKDHA):c.288+10G>A	rs376894084	0.00007
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)	rs371518124	0.00006
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)	rs576803251	0.00005
NM_001918.5(DBT):c.291C>T (p.Ser97=)	rs201318480	0.00005
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys)	rs188135164	0.00004
NM_000709.4(BCKDHA):c.996-26A>G	rs757986569	0.00004
NM_001918.5(DBT):c.1018-550A>G	rs796052135	0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs)	rs768832921	0.00004
NM_000709.4(BCKDHA):c.108+12G>A	rs780834493	0.00003
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)	rs376456598	0.00003
NM_000709.4(BCKDHA):c.288+9C>T	rs398123497	0.00003
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)	rs201366184	0.00003
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)	rs398123499	0.00003
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)	rs750729027	0.00003
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=)	rs750023394	0.00003
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=)	rs201991385	0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)	rs200137189	0.00003
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)	rs187669174	0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)	rs398124572	0.00003
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)	rs942815730	0.00002
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=)	rs398123491	0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)	rs375785084	0.00002
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=)	rs772457864	0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)	rs145901144	0.00002
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)	rs1131691488	0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)	rs398124561	0.00002
NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn)	rs398124565	0.00002
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)	rs537988425	0.00002
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)	rs182923857	0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)	rs398123486	0.00001
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)	rs1214763792	0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	rs398123490	0.00001
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)	rs374625613	0.00001
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)	rs369278165	0.00001
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)	rs769688327	0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)	rs398123503	0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)	rs369448982	0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)	rs137852874	0.00001
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)	rs199599175	0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)	rs137852873	0.00001
NM_000709.4(BCKDHA):c.854-2A>G	rs760494152	0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)	rs137852871	0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)	rs398123515	0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=)	rs1490661508	0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)	rs1449113689	0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)	rs398123660	0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)	rs767760099	0.00001
NM_001918.5(DBT):c.1430T>G (p.Met477Arg)	rs398123662	0.00001
NM_001918.5(DBT):c.198G>A (p.Gln66=)	rs201714436	0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro)	rs1663813561	0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)	rs727503896	0.00001
NM_001918.5(DBT):c.52-1G>A	rs755914063	0.00001
NM_001918.5(DBT):c.5C>T (p.Ala2Val)	rs398123672	0.00001
NM_001918.5(DBT):c.902G>A (p.Arg301His)	rs770981889	0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)	rs398123676	0.00001
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)	rs1304667430	0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)	rs751599203	0.00001
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter)	rs774916970	0.00001
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)	rs1005542482	0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)	rs398124571	0.00001
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)	rs776631396	0.00001
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys)	rs398124580	0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)	rs398124593	0.00001
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)	rs398124594	0.00001
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs)	rs1057516795	0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)	rs398124603	0.00001
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)	rs1330793674
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)	rs765543886
NM_000709.4(BCKDHA):c.1167+1del	rs1555767169
NM_000709.4(BCKDHA):c.1168-2A>G	rs1555767285
NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs)	rs398123489
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)	rs863225262
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)	rs137852872
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)	rs755691417
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)	rs1298823471
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)	rs398123494
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)	rs398123498
NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=)	rs2039284438
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)	rs2122122610
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)	rs762084007
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)	rs796051938
NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer)	rs2122142757
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)	rs1303770209
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg)	rs1468416468
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val)	rs887411374
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)	rs373713279
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter)	rs2122143379
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)	rs398123505
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp)	rs137852876
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)	rs761996996
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)	rs761996996
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)	rs764247545
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=)	rs2039381646
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)	rs398123514
NM_000709.4(BCKDHA):c.995+8C>T	rs886054462
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)	rs768389398
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)	rs1553229654
NM_001918.5(DBT):c.1210-10dup	rs398123658
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)	rs794727262
NM_001918.5(DBT):c.1282-14_1282-10del	rs752915898
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)	rs772490888
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)	rs749366506
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)	rs1553228626
NM_001918.5(DBT):c.1389C>T (p.Phe463=)	rs886044964
NM_001918.5(DBT):c.143_146dup (p.His49fs)	rs1384034981
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)	rs1217050849
NM_001918.5(DBT):c.29G>A (p.Trp10Ter)	rs572340170
NM_001918.5(DBT):c.442G>T (p.Glu148Ter)	rs1570820579
NM_001918.5(DBT):c.457del (p.Thr153fs)
NM_001918.5(DBT):c.51+1G>C
NM_001918.5(DBT):c.51+1G>T	rs398123669
NM_001918.5(DBT):c.634C>T (p.Gln212Ter)	rs1553230841
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)	rs201559874
NM_001918.5(DBT):c.788T>C (p.Met263Thr)	rs1553230703
NM_001918.5(DBT):c.828del (p.Phe276fs)
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)	rs775808731
NM_001918.5(DBT):c.961C>T (p.Gln321Ter)	rs1662088383
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)	rs398124560
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn)	rs796051939
NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg)	rs2127965290
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)	rs398124562
NM_183050.4(BCKDHB):c.1095_1096del (p.Pro366fs)
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)	rs386834234
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)	rs190867671
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)	rs1554181192
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)	rs1005542482
NM_183050.4(BCKDHB):c.275-2A>G	rs1554184224
NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs)	rs1380402024
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly)	rs869312126
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr)	rs940391887
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter)	rs2127727924
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)	rs398124573
NM_183050.4(BCKDHB):c.343+2T>G	rs1554184237
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)	rs398124575
NM_183050.4(BCKDHB):c.368del (p.Pro123fs)	rs1085307058
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)	rs751953459
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu)	rs776631396
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)	rs1772735425
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)	rs749033513
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)	rs398124581
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)	rs376293687
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)	rs376293687
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)	rs149766077
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs)	rs1410520713
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)	rs1772747408
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)	rs398124587
NM_183050.4(BCKDHB):c.612del (p.Phe204fs)	rs1210649507
NM_183050.4(BCKDHB):c.633+1G>T	rs398124589
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs)	rs1057516572
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs)	rs1554194690
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter)	rs1774369632
NM_183050.4(BCKDHB):c.840+2T>G	rs398124596
NM_183050.4(BCKDHB):c.843dup (p.His282fs)
NM_183050.4(BCKDHB):c.885del (p.Gly296fs)	rs398124599
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)	rs398124601
NM_183050.4(BCKDHB):c.94del (p.Ala32fs)	rs2127698980
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)	rs1224101411
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)	rs1554205541

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