Variants with conflicting interpretations studied for Polyglandular autoimmune syndrome, type 1

Minimum review status of the submission for Polyglandular autoimmune syndrome, type 1:		Collection method of the submission for Polyglandular autoimmune syndrome, type 1:
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
988	170	0	53	47	0	7	104

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
Polyglandular autoimmune syndrome, type 1		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	45	3	0	0
	likely pathogenic	45	0	6	0	0
	uncertain significance	3	6	0	43	5
	likely benign	0	0	43	0	8
	benign	0	0	5	8	0

Condition to condition summary #

Total conditions: 1

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
Polyglandular autoimmune syndrome, type 1	988	170	0	53	47	0	7	104

All variants with conflicting interpretations #

Total variants: 104

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.652+14C>T	rs41277546	0.01242
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)	rs74203920	0.01120
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)	rs34397615	0.01042
NM_000383.4(AIRE):c.1279-18C>T	rs72650678	0.00839
NM_000383.4(AIRE):c.1199C>T (p.Pro400Leu)	rs142366324	0.00200
NM_000383.4(AIRE):c.1065C>T (p.Pro355=)	rs201551372	0.00188
NM_000383.4(AIRE):c.510A>G (p.Ala170=)	rs146992760	0.00113
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)	rs121434254	0.00105
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)	rs72650677	0.00100
NM_000383.4(AIRE):c.901G>A (p.Val301Met)	rs150634562	0.00090
NM_000383.4(AIRE):c.447G>A (p.Arg149=)	rs374704178	0.00069
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu)	rs140196414	0.00036
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg)	rs373993732	0.00031
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn)	rs146810389	0.00023
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg)	rs148012328	0.00022
NM_000383.4(AIRE):c.538+7G>A	rs575144370	0.00017
NM_000383.4(AIRE):c.600G>A (p.Pro200=)	rs754331960	0.00014
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser)	rs142286875	0.00013
NM_000383.4(AIRE):c.354C>G (p.Val118=)	rs528667089	0.00012
NM_000383.4(AIRE):c.880-7G>A	rs141955483	0.00012
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln)	rs139835427	0.00011
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu)	rs193922417	0.00010
NM_000383.4(AIRE):c.825G>C (p.Gln275His)	rs1027582142	0.00009
NM_000383.4(AIRE):c.1095+2T>C	rs760280615	0.00008
NM_000383.4(AIRE):c.1095+10C>T	rs372932833	0.00007
NM_000383.4(AIRE):c.1323G>A (p.Thr441=)	rs201945690	0.00007
NM_000383.4(AIRE):c.652+15G>A	rs760027964	0.00007
NM_000383.4(AIRE):c.652+1G>T	rs199612115	0.00007
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met)	rs201491251	0.00006
NM_000383.4(AIRE):c.798+1G>A	rs138489664	0.00006
NM_000383.4(AIRE):c.156G>A (p.Lys52=)	rs144396624	0.00005
NM_000383.4(AIRE):c.351C>T (p.Ala117=)	rs201929488	0.00005
NM_000383.4(AIRE):c.1327G>A (p.Val443Met)	rs557522986	0.00003
NM_000383.4(AIRE):c.1347C>T (p.Cys449=)	rs367619299	0.00003
NM_000383.4(AIRE):c.1398C>T (p.Pro466=)	rs1402673356	0.00003
NM_000383.4(AIRE):c.1400+7G>C	rs781592443	0.00003
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)	rs746873146	0.00003
NM_000383.4(AIRE):c.1620G>A (p.Ala540=)	rs372219460	0.00003
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)	rs179363889	0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)	rs140630532	0.00002
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter)	rs755490967	0.00002
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln)	rs752432041	0.00001
NM_000383.4(AIRE):c.1161C>T (p.Gly387=)	rs372895437	0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs)	rs386833672	0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)	rs763695515	0.00001
NM_000383.4(AIRE):c.1338T>C (p.Cys446=)	rs979048802	0.00001
NM_000383.4(AIRE):c.1566+2T>A	rs1057516985	0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp)	rs747941115	0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val)	rs121434258	0.00001
NM_000383.4(AIRE):c.21A>G (p.Leu7=)	rs1347611962	0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)	rs1231469574	0.00001
NM_000383.4(AIRE):c.312G>A (p.Val104=)	rs752433552	0.00001
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu)	rs179363876	0.00001
NM_000383.4(AIRE):c.463+2T>C	rs786204478	0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)	rs193922418	0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)	rs179363886	0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)	rs179363878	0.00001
NM_000383.4(AIRE):c.840C>T (p.Pro280=)	rs772423300	0.00001
NM_000383.4(AIRE):c.843C>T (p.Ala281=)	rs769454980	0.00001
NM_000383.4(AIRE):c.90C>T (p.His30=)	rs754316070	0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu)	rs179363885	0.00001
NM_000383.4(AIRE):c.1026G>A (p.Gln342=)	rs780370681
NM_000383.4(AIRE):c.1066dup (p.Arg356fs)	rs1555872879
NM_000383.4(AIRE):c.1084del (p.Val362fs)	rs1057517254
NM_000383.4(AIRE):c.1095+23_1095+64del	rs1037154559
NM_000383.4(AIRE):c.1233del (p.Ser412fs)	rs2146383573
NM_000383.4(AIRE):c.1235del (p.Ser412fs)	rs2517884813
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)	rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs)	rs764878471
NM_000383.4(AIRE):c.1279-4A>G	rs2517885689
NM_000383.4(AIRE):c.1311C>A (p.Cys437Ter)	rs771244760
NM_000383.4(AIRE):c.135G>A (p.Glu45=)	rs2040483990
NM_000383.4(AIRE):c.1404G>A (p.Thr468=)	rs7281600
NM_000383.4(AIRE):c.1476C>A (p.Pro492=)	rs72650679
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs)	rs1057517072
NM_000383.4(AIRE):c.1503+1G>T	rs1156582406
NM_000383.4(AIRE):c.1504-818G>A	rs181779633
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter)	rs1057516272
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser)	rs1568932096
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly)	rs747941115
NM_000383.4(AIRE):c.174C>G (p.Ala58=)	rs2517876262
NM_000383.4(AIRE):c.186C>G (p.Leu62=)	rs1457361560
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)	rs2517876295
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu)	rs121434255
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)	rs179363882
NM_000383.4(AIRE):c.25C>T (p.Arg9Trp)	rs1942959342
NM_000383.4(AIRE):c.260del (p.Leu87fs)	rs1057517428
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg)	rs179363884
NM_000383.4(AIRE):c.328del (p.Arg110fs)	rs1162316051
NM_000383.4(AIRE):c.423C>A (p.Ala141=)	rs572002344
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)	rs179363875
NM_000383.4(AIRE):c.449del (p.Gly150fs)	rs771341718
NM_000383.4(AIRE):c.44G>A (p.Arg15His)	rs179363876
NM_000383.4(AIRE):c.464-7C>T	rs768310786
NM_000383.4(AIRE):c.508_517dup (p.Gln173fs)	rs1179261094
NM_000383.4(AIRE):c.510_522del (p.Glu171fs)	rs940485051
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)	rs1057517241
NM_000383.4(AIRE):c.534G>A (p.Gly178=)	rs1160671214
NM_000383.4(AIRE):c.798C>G (p.Pro266=)	rs41277550
NM_000383.4(AIRE):c.798dup (p.Gly267fs)	rs2040518119
NM_000383.4(AIRE):c.868C>T (p.Gln290Ter)	rs2517880872
NM_000383.4(AIRE):c.868del (p.Gln290fs)	rs2146379725
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg)	rs754932526
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)	rs386833675

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.