Variants with conflicting interpretations studied for CREBBP-related disorder

Minimum review status of the submission for CREBBP-related disorder:		Collection method of the submission for CREBBP-related disorder:
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
471	108	0	53	59	0	4	105

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
CREBBP-related disorder		likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	3	0	0	0
	uncertain significance	2	0	14	0
	likely benign	1	43	0	43
	benign	1	2	7	0

Condition to condition summary #

Total conditions: 4

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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	86	46	56	0	95
not specified	56	13	2	0	15
Tip-toe gait	0	0	0	4	4
Neurodevelopmental abnormality	0	0	1	0	1

All variants with conflicting interpretations #

Total variants: 105

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)	rs148904096	0.00244
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)	rs61759495	0.00171
NM_004380.3(CREBBP):c.4133+4A>G	rs372126168	0.00124
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)	rs199990883	0.00120
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=)	rs144832179	0.00116
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=)	rs546554430	0.00113
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=)	rs144609433	0.00103
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)	rs142047649	0.00102
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=)	rs141869477	0.00101
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys)	rs55790011	0.00070
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=)	rs149560660	0.00064
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr)	rs148781922	0.00051
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=)	rs141651423	0.00049
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr)	rs140406003	0.00049
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=)	rs370565083	0.00049
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met)	rs368145743	0.00042
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu)	rs142008620	0.00038
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu)	rs146538907	0.00038
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)	rs200716582	0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=)	rs3025679	0.00035
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=)	rs781112420	0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)	rs587783504	0.00030
NM_004380.3(CREBBP):c.2239A>G (p.Met747Val)	rs142932907	0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)	rs146168040	0.00029
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=)	rs149055008	0.00027
NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr)	rs202225861	0.00019
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn)	rs200154055	0.00019
NM_004380.3(CREBBP):c.6165C>T (p.Ser2055=)	rs368704484	0.00017
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser)	rs139169188	0.00017
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=)	rs142846349	0.00015
NM_004380.3(CREBBP):c.177T>A (p.Leu59=)	rs201027381	0.00014
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile)	rs201874248	0.00014
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro)	rs577305576	0.00014
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=)	rs141775567	0.00013
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu)	rs147083140	0.00013
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr)	rs559294915	0.00013
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=)	rs374969185	0.00012
NM_004380.3(CREBBP):c.6656C>T (p.Ala2219Val)	rs150461438	0.00012
NM_004380.3(CREBBP):c.4280+8T>C	rs376814421	0.00011
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=)	rs201161108	0.00011
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=)	rs190121951	0.00010
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=)	rs199610814	0.00010
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)	rs369459749	0.00009
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)	rs374379164	0.00008
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)	rs148023511	0.00007
NM_004380.3(CREBBP):c.3982+10G>A	rs370093745	0.00007
NM_004380.3(CREBBP):c.4844A>G (p.Asn1615Ser)	rs372308925	0.00007
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=)	rs368664039	0.00006
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=)	rs375462934	0.00006
NM_004380.3(CREBBP):c.6155G>A (p.Arg2052Gln)	rs748936007	0.00006
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)	rs147805823	0.00005
NM_004380.3(CREBBP):c.3060+10G>A	rs398124143	0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=)	rs374150949	0.00005
NM_004380.3(CREBBP):c.1275T>C (p.His425=)	rs758886547	0.00004
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)	rs61754521	0.00004
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=)	rs398124142	0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)	rs771016864	0.00004
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met)	rs766085073	0.00004
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn)	rs754429038	0.00004
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val)	rs758386187	0.00004
NM_004380.3(CREBBP):c.711C>T (p.Ser237=)	rs146049063	0.00004
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)	rs973479623	0.00003
NM_004380.3(CREBBP):c.2413G>A (p.Ala805Thr)	rs370128808	0.00003
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)	rs772991403	0.00003
NM_004380.3(CREBBP):c.423T>G (p.Ser141=)	rs760605470	0.00003
NM_004380.3(CREBBP):c.5958G>A (p.Thr1986=)	rs774747147	0.00003
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=)	rs768100377	0.00003
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)	rs750845399	0.00003
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser)	rs779000839	0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp)	rs774653315	0.00002
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)	rs766320521	0.00001
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=)	rs1053049323	0.00001
NM_004380.3(CREBBP):c.3232T>C (p.Ser1078Pro)	rs749028913	0.00001
NM_004380.3(CREBBP):c.3250+4G>A	rs1301154478	0.00001
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser)	rs148166625	0.00001
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser)	rs762638591	0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=)	rs756979739	0.00001
NM_004380.3(CREBBP):c.504G>A (p.Thr168=)	rs373310969	0.00001
NM_004380.3(CREBBP):c.5517C>T (p.Pro1839=)	rs760307939	0.00001
NM_004380.3(CREBBP):c.6452G>T (p.Arg2151Leu)	rs749783719	0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=)	rs138613594	0.00001
NM_004380.3(CREBBP):c.7222A>G (p.Met2408Val)	rs372005280	0.00001
NM_004380.3(CREBBP):c.1217-7G>A	rs2053519519
NM_004380.3(CREBBP):c.1331-12_1331-9del	rs765955245
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del)	rs755265819
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr)	rs770952413
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)	rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)	rs143247685
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)	rs555109138
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	rs267606752
NM_004380.3(CREBBP):c.4890+2T>C	rs786205495
NM_004380.3(CREBBP):c.5518G>T (p.Val1840Leu)	rs2051853150
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)	rs797045037
NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)	rs749069343
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del)	rs772003652
NM_004380.3(CREBBP):c.6594GCA[2] (p.Gln2214_Gln2216del)	rs746121736
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del)	rs750150018
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del)	rs727503890
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del)	rs763108828
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1])	rs778220523
NM_004380.3(CREBBP):c.712G>A (p.Val238Met)	rs146887252
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)	rs146887252
NM_004380.3(CREBBP):c.753T>G (p.Thr251=)	rs142403441
NM_004380.3(CREBBP):c.84A>C (p.Thr28=)	rs1597099402
NM_004380.3(CREBBP):c.907A>G (p.Met303Val)	rs1567331335

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