Variants with conflicting interpretations studied for Donnai-Barrow syndrome

Minimum review status of the submission for Donnai-Barrow syndrome:		Collection method of the submission for Donnai-Barrow 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
975	187	0	44	42	0	2	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
Donnai-Barrow syndrome		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	6	1	0	0
	likely pathogenic	6	0	2	0	0
	uncertain significance	1	2	0	42	2
	likely benign	0	0	42	0	38
	benign	0	0	2	38	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
Donnai-Barrow syndrome	975	187	0	44	42	0	2	85

All variants with conflicting interpretations #

Total variants: 85

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HGVS	dbSNP	gnomAD frequency
NM_004525.3(LRP2):c.79+15A>G	rs1559013	0.98948
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=)	rs73970129	0.01063
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met)	rs116456291	0.01031
NM_004525.3(LRP2):c.9033-8T>C	rs140148483	0.01021
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=)	rs7598640	0.00882
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu)	rs143367996	0.00689
NM_004525.3(LRP2):c.923-6G>A	rs144147038	0.00611
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met)	rs34355135	0.00561
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val)	rs144723964	0.00467
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=)	rs144126440	0.00414
NM_004525.3(LRP2):c.13620+14C>G	rs142018904	0.00384
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser)	rs114460450	0.00342
NM_004525.3(LRP2):c.6967C>T (p.Leu2323=)	rs149367019	0.00326
NM_004525.3(LRP2):c.403G>A (p.Asp135Asn)	rs142594441	0.00316
NM_004525.3(LRP2):c.5538+10C>T	rs115659204	0.00296
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)	rs142549310	0.00281
NM_004525.3(LRP2):c.92C>T (p.Ala31Val)	rs144829356	0.00280
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser)	rs138070797	0.00233
NM_004525.3(LRP2):c.11663G>A (p.Arg3888His)	rs77686710	0.00218
NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser)	rs148356370	0.00217
NM_004525.3(LRP2):c.2079C>T (p.Phe693=)	rs145709922	0.00210
NM_004525.3(LRP2):c.769+9G>A	rs148452352	0.00208
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His)	rs142934522	0.00196
NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala)	rs35413340	0.00196
NM_004525.3(LRP2):c.2513+14T>C	rs201785482	0.00192
NM_004525.3(LRP2):c.10170-15T>G	rs144579935	0.00190
NM_004525.3(LRP2):c.10233C>T (p.Phe3411=)	rs139363553	0.00183
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His)	rs3213760	0.00161
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly)	rs35942532	0.00156
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=)	rs146115458	0.00146
NM_004525.3(LRP2):c.6267G>A (p.Pro2089=)	rs2228169	0.00126
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)	rs79179577	0.00123
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly)	rs34592807	0.00119
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)	rs150752263	0.00100
NM_004525.3(LRP2):c.4831C>T (p.Leu1611=)	rs151079411	0.00091
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe)	rs148299415	0.00088
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val)	rs140272085	0.00087
NM_004525.3(LRP2):c.987G>A (p.Ala329=)	rs141751667	0.00084
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)	rs138269726	0.00078
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg)	rs144906000	0.00073
NM_004525.3(LRP2):c.4803C>T (p.Cys1601=)	rs141068435	0.00065
NM_004525.3(LRP2):c.11264-14C>G	rs377424162	0.00062
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro)	rs188918037	0.00049
NM_004525.3(LRP2):c.7866C>T (p.Asp2622=)	rs139514301	0.00045
NM_004525.3(LRP2):c.8901C>G (p.Pro2967=)	rs145179638	0.00045
NM_004525.3(LRP2):c.2320+9G>A	rs368933798	0.00044
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys)	rs201299366	0.00043
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe)	rs143884041	0.00043
NM_004525.3(LRP2):c.12421G>A (p.Val4141Ile)	rs150382715	0.00041
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=)	rs144449508	0.00040
NM_004525.3(LRP2):c.9363C>T (p.Gly3121=)	rs146783211	0.00038
NM_004525.3(LRP2):c.11322G>A (p.Ser3774=)	rs141727314	0.00034
NM_004525.3(LRP2):c.2511C>T (p.Ala837=)	rs375313914	0.00034
NM_004525.3(LRP2):c.3551-9C>A	rs373882047	0.00032
NM_004525.3(LRP2):c.1731G>A (p.Arg577=)	rs142698246	0.00031
NM_004525.3(LRP2):c.11478G>A (p.Ala3826=)	rs150464677	0.00019
NM_004525.3(LRP2):c.13359C>T (p.Ser4453=)	rs202161925	0.00019
NM_004525.3(LRP2):c.8073C>T (p.His2691=)	rs146772976	0.00018
NM_004525.3(LRP2):c.12687T>C (p.Gly4229=)	rs140195786	0.00016
NM_004525.3(LRP2):c.12296-7T>A	rs200755164	0.00013
NM_004525.3(LRP2):c.5553C>T (p.His1851=)	rs369998522	0.00013
NM_004525.3(LRP2):c.12756C>T (p.Asp4252=)	rs201793817	0.00012
NM_004525.3(LRP2):c.5370A>G (p.Gln1790=)	rs201155152	0.00011
NM_004525.3(LRP2):c.8112C>A (p.Ser2704=)	rs148473513	0.00010
NM_004525.3(LRP2):c.9066C>T (p.Ser3022=)	rs374380173	0.00010
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp)	rs747833963	0.00009
NM_004525.3(LRP2):c.11244C>T (p.Asn3748=)	rs542010522	0.00007
NM_004525.3(LRP2):c.1425C>T (p.Asp475=)	rs186484839	0.00007
NM_004525.3(LRP2):c.3285C>T (p.Gly1095=)	rs986671553	0.00007
NM_004525.3(LRP2):c.630C>T (p.Asp210=)	rs368336310	0.00006
NM_004525.3(LRP2):c.3495G>A (p.Ser1165=)	rs186494101	0.00005
NM_004525.3(LRP2):c.770-12T>C	rs138572086	0.00005
NM_004525.3(LRP2):c.13002C>T (p.Cys4334=)	rs774133574	0.00003
NM_004525.3(LRP2):c.2639+1G>A	rs746752313	0.00001
NM_004525.3(LRP2):c.3667+1G>A	rs752197557	0.00001
NM_004525.3(LRP2):c.863G>A (p.Gly288Glu)	rs147110349	0.00001
NM_004525.3(LRP2):c.9342C>T (p.Cys3114=)	rs199803029	0.00001
NM_004525.3(LRP2):c.11568G>A (p.Pro3856=)	rs745949029
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs)	rs80338754
NM_004525.3(LRP2):c.169G>T (p.Ala57Ser)	rs147295930
NM_004525.3(LRP2):c.3932G>A (p.Arg1311His)	rs140748929
NM_004525.3(LRP2):c.5648+7A>C	rs775694684
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)	rs80338747
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter)	rs1358532875
NM_004525.3(LRP2):c.8699-8C>T	rs145301652

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