Variants with conflicting interpretations studied for Cobalamin C disease

Minimum review status of the submission for Cobalamin C disease:		Collection method of the submission for Cobalamin C disease:
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
364	133	0	62	18	0	19	92

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
Cobalamin C disease		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	55	8	0	0
	likely pathogenic	56	0	16	0	0
	uncertain significance	8	16	0	18	2
	likely benign	0	0	18	0	6
	benign	0	0	2	6	0

Condition to condition summary #

Total conditions: 2

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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
Cobalamin C disease	365	133	0	61	18	0	19	91
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	0	2	0	2	0	0	0	2

All variants with conflicting interpretations #

Total variants: 92

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly)	rs35219601	0.04960
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)	rs200300254	0.00123
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	rs200483477	0.00072
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)	rs192924272	0.00041
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)	rs377405910	0.00030
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	rs201312386	0.00019
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	rs371753672	0.00017
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	rs200094982	0.00013
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)	rs34258482	0.00013
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)	rs372918203	0.00012
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)	rs200276195	0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)	rs201183360	0.00006
NM_015506.3(MMACHC):c.276+13_276+14del	rs752665903	0.00005
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)	rs761111018	0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)	rs761221416	0.00003
NM_015506.3(MMACHC):c.354G>A (p.Gln118=)	rs765769901	0.00002
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)	rs755843695	0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)	rs765822392	0.00002
NM_015506.3(MMACHC):c.282C>T (p.Leu94=)	rs751229877	0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)	rs752205161	0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)	rs1347498294	0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)	rs372670428	0.00001
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn)	rs563710045	0.00001
NM_015506.3(MMACHC):c.430-2A>G	rs376964010	0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)	rs768978351	0.00001
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)	rs955468279	0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	rs538023671	0.00001
NM_015506.3(MMACHC):c.640dup (p.Arg214fs)	rs1643683813	0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)	rs369621922	0.00001
NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter)	rs757033378	0.00001
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)	rs756980496
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)	rs1570829757
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)	rs201777449
NM_015506.3(MMACHC):c.271_272insC (p.Arg91fs)
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)	rs556977618
NM_015506.3(MMACHC):c.277-7G>A	rs1258697986
NM_015506.3(MMACHC):c.277-8_277-3dup	rs756072947
NM_015506.3(MMACHC):c.281_290del (p.Leu94fs)	rs2522824468
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)	rs1553162821
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)	rs759188647
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)	rs574983400
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)	rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)	rs1311416761
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	rs121918240
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)	rs796051998
NM_015506.3(MMACHC):c.395_397del (p.Arg132del)	rs1455190457
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)	rs1035201847
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)	rs1553162868
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)	rs2149323799
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)	rs747550590
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)	rs796051999
NM_015506.3(MMACHC):c.452A>G (p.His151Arg)	rs764409631
NM_015506.3(MMACHC):c.45G>C (p.Thr15=)	rs750623781
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)	rs1553162910
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)	rs1002571805
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)	rs370596113
NM_015506.3(MMACHC):c.484G>T (p.Gly162Trp)	rs1178984269
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs)	rs765960386
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)	rs1481893137
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)	rs2149323855
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)	rs1553162923
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)	rs2522827461
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs)	rs1553162934
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del)	rs1553162937
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)	rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs)	rs1257204721
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro)	rs1233135084
NM_015506.3(MMACHC):c.603_604del (p.Asp202fs)	rs1643682280
NM_015506.3(MMACHC):c.604G>T (p.Asp202Tyr)
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)	rs1383465849
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)	rs371753672
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)	rs765913293
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)	rs1356587420
NM_015506.3(MMACHC):c.63C>T (p.Phe21=)	rs2149320920
NM_015506.3(MMACHC):c.728del (p.Pro243fs)	rs1409915649
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)	rs564280688
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)	rs796064513
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)	rs753855245
NM_015506.3(MMACHC):c.81+1G>C	rs745366624
NM_015506.3(MMACHC):c.81+2T>G	rs777251123
NM_015506.3(MMACHC):c.82-11_82-8del	rs751236442
NM_015506.3(MMACHC):c.82-1G>A	rs1255179780
NM_015506.3(MMACHC):c.82-2A>G	rs2522819771
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)	rs201025783
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter)	rs1570829502
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)	rs771673343
NM_015506.3(MMACHC):c.90_97del (p.Trp30_Glu33delinsTer)	rs1289618918
NM_181697.3(PRDX1):c.515-2A>T	rs1379672870

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