Variants with conflicting interpretations studied for KBG syndrome

Minimum review status of the submission for KBG syndrome:		Collection method of the submission for KBG syndrome:
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
2012	186	0	65	14	0	8	85

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
KBG syndrome		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	30	3	0	0
	likely pathogenic	30	0	6	0	0
	uncertain significance	3	6	0	13	2
	likely benign	0	0	13	0	35
	benign	0	0	2	35	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
KBG syndrome	2012	186	0	65	14	0	8	85

All variants with conflicting interpretations #

Total variants: 85

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HGVS	dbSNP	gnomAD frequency
NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=)	rs146575027	0.01487
NM_013275.6(ANKRD11):c.744+18C>G	rs147328392	0.00441
NM_013275.6(ANKRD11):c.7296C>T (p.Ser2432=)	rs146648782	0.00233
NM_013275.6(ANKRD11):c.6826C>T (p.Pro2276Ser)	rs201957371	0.00220
NM_013275.6(ANKRD11):c.5738C>A (p.Thr1913Asn)	rs142373563	0.00156
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)	rs146205997	0.00150
NM_013275.6(ANKRD11):c.890C>T (p.Thr297Met)	rs140998225	0.00126
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys)	rs202081612	0.00121
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile)	rs200852197	0.00111
NM_013275.6(ANKRD11):c.6978C>T (p.Ala2326=)	rs558301893	0.00097
NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu)	rs200351209	0.00083
NM_013275.6(ANKRD11):c.6221A>C (p.Glu2074Ala)	rs201401760	0.00083
NM_013275.6(ANKRD11):c.6560C>T (p.Pro2187Leu)	rs202216051	0.00076
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln)	rs149776253	0.00070
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)	rs144947610	0.00064
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly)	rs199691161	0.00061
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser)	rs142527333	0.00055
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu)	rs373218212	0.00051
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys)	rs140373729	0.00048
NM_013275.6(ANKRD11):c.6115G>A (p.Asp2039Asn)	rs376679880	0.00048
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)	rs143743958	0.00046
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)	rs200724087	0.00045
NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser)	rs144516367	0.00042
NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=)	rs142469039	0.00041
NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr)	rs140370885	0.00040
NM_013275.6(ANKRD11):c.3826G>A (p.Ala1276Thr)	rs139239852	0.00040
NM_013275.6(ANKRD11):c.5178C>T (p.Ser1726=)	rs200783129	0.00020
NM_013275.6(ANKRD11):c.1577A>T (p.His526Leu)	rs374369335	0.00013
NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser)	rs773172347	0.00011
NM_013275.6(ANKRD11):c.1360G>A (p.Val454Met)	rs149569330	0.00008
NM_013275.6(ANKRD11):c.6910G>A (p.Glu2304Lys)	rs905177395	0.00007
NM_013275.6(ANKRD11):c.3044C>T (p.Pro1015Leu)	rs200650209	0.00005
NM_013275.6(ANKRD11):c.3953C>G (p.Thr1318Ser)	rs570483616	0.00005
NM_013275.6(ANKRD11):c.541G>A (p.Ala181Thr)	rs777123332	0.00003
NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile)	rs199785661	0.00003
NM_013275.6(ANKRD11):c.301G>A (p.Gly101Arg)	rs1373571533	0.00002
NM_013275.6(ANKRD11):c.3467G>A (p.Arg1156Gln)	rs775910970	0.00001
NM_013275.6(ANKRD11):c.5998C>T (p.Leu2000Phe)	rs777086823	0.00001
NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly)	rs115797011
NM_013275.6(ANKRD11):c.1897_1900del (p.Lys633fs)
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)	rs749201074
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)	rs886039734
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)	rs886041791
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)	rs1597461100
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs)	rs886039902
NM_013275.6(ANKRD11):c.2615_2616del (p.Ser872fs)	rs2034464204
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs)	rs2034464059
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter)	rs752918694
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)	rs1064793539
NM_013275.6(ANKRD11):c.316C>T (p.Arg106Ter)
NM_013275.6(ANKRD11):c.3319_3322del (p.Lys1107fs)	rs2151755532
NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu)	rs137894790
NM_013275.6(ANKRD11):c.3708_3709del (p.Lys1237fs)	rs1567572265
NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln)	rs1276607391
NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu)	rs1294714307
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs)	rs2151753260
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)	rs2034353033
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter)	rs1364690005
NM_013275.6(ANKRD11):c.4107_4108del (p.Lys1370fs)	rs2544234255
NM_013275.6(ANKRD11):c.4236AGA[1] (p.Glu1413del)	rs778347369
NM_013275.6(ANKRD11):c.4396_4397del (p.Arg1466fs)	rs2151750068
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter)	rs2151745705
NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile)	rs151288302
NM_013275.6(ANKRD11):c.5911G>C (p.Val1971Leu)	rs199737737
NM_013275.6(ANKRD11):c.601+11_601+37del	rs2544304935
NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=)	rs762643863
NM_013275.6(ANKRD11):c.6688_6689del (p.Arg2230fs)	rs1597436476
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs)	rs1555525296
NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)	rs1567553783
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)	rs1555525088
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter)	rs2151730563
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)	rs2033536147
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)	rs2033535934
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys)	rs2033533123
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp)	rs2151701893
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp)	rs1555523386
NM_013275.6(ANKRD11):c.7735C>T (p.Arg2579Cys)	rs1567537413
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)	rs1250432793
NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys)	rs1567537304
NM_013275.6(ANKRD11):c.7754G>A (p.Arg2585His)	rs1567537296
NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter)	rs2033085976
NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp)	rs1597389370
NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter)	rs797044900
NM_013275.6(ANKRD11):c.87+13C>T	rs201730053
Single allele

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