Variants with conflicting interpretations studied for Hereditary hyperinsulinism

Minimum review status of the submission for Hereditary hyperinsulinism:		Collection method of the submission for Hereditary hyperinsulinism:
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
171	94	0	74	82	0	13	160

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
Hereditary hyperinsulinism		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	10	1	0	0
	likely pathogenic	30	0	11	0	0
	uncertain significance	0	1	0	74	6
	likely benign	0	0	6	0	10
	benign	0	0	2	24	0

Condition to condition summary #

Total conditions: 5

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Condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
not provided	106	58	76	11	140
not specified	30	20	23	4	47
ABCC8-related disorder	18	5	9	1	15
Neonatal hypoglycemia	1	0	1	0	1
See cases	1	1	0	0	1

All variants with conflicting interpretations #

Total variants: 160

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)	rs757110	0.71935
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)	rs1048099	0.47531
NM_000352.6(ABCC8):c.1686C>T (p.His562=)	rs1799857	0.44260
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)	rs1799859	0.39734
NM_000352.6(ABCC8):c.2117-3C>T	rs1799854	0.37032
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)	rs1799858	0.16638
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)	rs1805036	0.14090
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)	rs8192695	0.06595
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)	rs8192690	0.05059
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)	rs1801261	0.02724
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)	rs60824529	0.01375
NM_000352.6(ABCC8):c.4120-19C>T	rs1800853	0.01325
NM_000352.6(ABCC8):c.3329+6C>T	rs113873225	0.01304
NM_000352.6(ABCC8):c.2041-28C>T	rs116419577	0.01185
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)	rs73419228	0.01100
NM_000352.6(ABCC8):c.1333-1032G>A	rs11821525	0.01097
NM_000352.6(ABCC8):c.423G>A (p.Val141=)	rs116132921	0.01009
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)	rs61748766	0.00948
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)	rs113282901	0.00497
NM_000352.6(ABCC8):c.354C>T (p.Val118=)	rs137873871	0.00434
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)	rs58820146	0.00381
NM_000352.6(ABCC8):c.2556+30C>T	rs76285388	0.00342
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)	rs75376282	0.00284
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)	rs58241708	0.00272
NM_000352.6(ABCC8):c.945C>T (p.Ala315=)	rs138521721	0.00173
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)	rs145386421	0.00115
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)	rs111967655	0.00107
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)	rs117874766	0.00091
NM_000352.6(ABCC8):c.1630+10C>T	rs188075767	0.00090
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)	rs147623093	0.00083
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)	rs67254669	0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)	rs138687850	0.00072
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)	rs145136257	0.00058
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)	rs199925058	0.00024
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)	rs201662945	0.00024
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)	rs186634115	0.00021
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)	rs565996783	0.00019
NM_000352.6(ABCC8):c.3399+12C>T	rs372561049	0.00016
NM_000352.6(ABCC8):c.4412-14C>T	rs193922404	0.00016
NM_000352.6(ABCC8):c.1818-6G>A	rs368708177	0.00013
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=)	rs17846762	0.00013
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)	rs368419322	0.00013
NM_000352.6(ABCC8):c.102G>A (p.Val34=)	rs189746511	0.00011
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)	rs367974472	0.00011
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)	rs562715858	0.00011
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)	rs146584228	0.00010
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)	rs144200345	0.00009
NM_000352.6(ABCC8):c.279C>A (p.Ile93=)	rs550990673	0.00008
NM_000352.6(ABCC8):c.3329+7G>A	rs776313489	0.00007
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)	rs146378237	0.00006
NM_000352.6(ABCC8):c.2222+12A>G	rs534103042	0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)	rs143557848	0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)	rs185040406	0.00006
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)	rs376206979	0.00005
NM_000352.6(ABCC8):c.2391-6C>T	rs556416038	0.00005
NM_000352.6(ABCC8):c.3393C>T (p.Ile1131=)	rs776975807	0.00005
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)	rs540122589	0.00005
NM_000352.6(ABCC8):c.1536C>T (p.Tyr512=)	rs765090096	0.00004
NM_000352.6(ABCC8):c.1924-10C>T	rs200823913	0.00004
NM_000352.6(ABCC8):c.2041-21G>A	rs746714109	0.00004
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln)	rs374743072	0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)	rs200670692	0.00004
NM_000352.6(ABCC8):c.942C>T (p.Phe314=)	rs768582290	0.00004
NM_000352.6(ABCC8):c.1407A>C (p.Leu469=)	rs751643248	0.00003
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)	rs1420601296	0.00003
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=)	rs200708414	0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)	rs570388861	0.00003
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)	rs372257088	0.00003
NM_000352.6(ABCC8):c.3558-7G>A	rs900191703	0.00003
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=)	rs372186045	0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)	rs769279368	0.00003
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)	rs137852676	0.00003
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)	rs1272388614	0.00003
NM_000352.6(ABCC8):c.495G>A (p.Ser165=)	rs369136858	0.00003
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)	rs751228166	0.00003
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)	rs764349043	0.00002
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=)	rs137868047	0.00002
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)	rs1345535328	0.00002
NM_000352.6(ABCC8):c.4308-2A>G	rs886041391	0.00002
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=)	rs773042150	0.00002
NM_000352.6(ABCC8):c.1008C>G (p.Pro336=)	rs1199327855	0.00001
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)	rs1256418853	0.00001
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)	rs542947894	0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)	rs760062120	0.00001
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)	rs148811815	0.00001
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)	rs751279984	0.00001
NM_000352.6(ABCC8):c.1869G>A (p.Gln623=)	rs1487225445	0.00001
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)	rs1554924035	0.00001
NM_000352.6(ABCC8):c.2391-5G>A	rs370096884	0.00001
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)	rs547150342	0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)	rs1323334420	0.00001
NM_000352.6(ABCC8):c.2619T>G (p.Leu873=)	rs756718678	0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)	rs541269678	0.00001
NM_000352.6(ABCC8):c.2973G>A (p.Gln991=)	rs369865194	0.00001
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)	rs755259997	0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)	rs761749884	0.00001
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)	rs2133711315	0.00001
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)	rs565968675	0.00001
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)	rs769968875	0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr)	rs1266053680	0.00001
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)	rs781617345	0.00001
NM_000352.6(ABCC8):c.3868-10C>T	rs2133409266	0.00001
NM_000352.6(ABCC8):c.4119+10C>T	rs201955628	0.00001
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)	rs776610373	0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)	rs1468762603	0.00001
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)	rs752222583	0.00001
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)	rs746480424	0.00001
NM_000352.6(ABCC8):c.4491G>A (p.Arg1497=)	rs778997556	0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)	rs72559713	0.00001
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)	rs747402972	0.00001
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)	rs574487898	0.00001
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)	rs756823374	0.00001
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)	rs770664202	0.00001
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)	rs863225280	0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)	rs769569410	0.00001
NM_000352.6(ABCC8):c.970G>A (p.Val324Met)	rs1328072266	0.00001
NM_000352.6(ABCC8):c.1149T>C (p.Thr383=)	rs1956872908
NM_000352.6(ABCC8):c.1176+10T>C	rs762053701
NM_000352.6(ABCC8):c.1258C>T (p.Leu420=)	rs2496781399
NM_000352.6(ABCC8):c.1333-1013A>G	rs980458021
NM_000352.6(ABCC8):c.1431G>A (p.Val477=)	rs2496755582
NM_000352.6(ABCC8):c.1617T>C (p.Tyr539=)	rs1591832463
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)	rs2133554613
NM_000352.6(ABCC8):c.1672-20A>T	rs931436550
NM_000352.6(ABCC8):c.1725G>A (p.Val575=)	rs1183091226
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)	rs757650373
NM_000352.6(ABCC8):c.1960G>T (p.Glu654Ter)	rs1955687009
NM_000352.6(ABCC8):c.2041-12C>T	rs201419039
NM_000352.6(ABCC8):c.2041-25G>C	rs1554924660
NM_000352.6(ABCC8):c.2043C>T (p.Ile681=)	rs2133535667
NM_000352.6(ABCC8):c.2252_2253dup (p.Ser752fs)	rs2133487890
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=)	rs1955020359
NM_000352.6(ABCC8):c.264G>A (p.Glu88=)	rs2496918658
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)	rs1382448285
NM_000352.6(ABCC8):c.2910A>G (p.Glu970=)	rs2496534998
NM_000352.6(ABCC8):c.3105G>A (p.Lys1035=)
NM_000352.6(ABCC8):c.3399+45C>A	rs200276273
NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)	rs1262517518
NM_000352.6(ABCC8):c.3650+4C>G	rs374315114
NM_000352.6(ABCC8):c.3651-4C>G	rs1954058406
NM_000352.6(ABCC8):c.3753+2C>T	rs760196276
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)	rs1185034563
NM_000352.6(ABCC8):c.3903G>T (p.Leu1301=)	rs2133408961
NM_000352.6(ABCC8):c.3988+19G>C	rs576340695
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)	rs28936370
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)	rs138642224
NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser)	rs925231098
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)	rs925231098
NM_000352.6(ABCC8):c.4178G>T (p.Arg1393Leu)	rs769279368
NM_000352.6(ABCC8):c.4221T>C (p.Ile1407=)
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)	rs1446306735
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)	rs28938469
NM_000352.6(ABCC8):c.4281C>T (p.Asp1427=)	rs1334003978
NM_000352.6(ABCC8):c.4591A>G (p.Thr1531Ala)	rs796891223
NM_000352.6(ABCC8):c.4608+7G>A	rs779032718
NM_000352.6(ABCC8):c.4661G>A (p.Gly1554Asp)	rs760494159
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)	rs797045213
NM_000352.6(ABCC8):c.639G>C (p.Leu213=)	rs1483834388
NM_000352.6(ABCC8):c.762C>T (p.Pro254=)	rs2133679286
NM_000352.6(ABCC8):c.805del (p.Ala269fs)	rs1564976749

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