ClinVar Miner

Variants with conflicting interpretations studied for Medium-chain acyl-coenzyme A dehydrogenase deficiency

Coded as:
Minimum review status of the submission for Medium-chain acyl-coenzyme A dehydrogenase deficiency: Y axis collection method of the submission for Medium-chain acyl-coenzyme A dehydrogenase deficiency:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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 Variants with at least 2 submissions 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 kind of conflict
125 25 0 36 4 1 23 58

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
Medium-chain acyl-coenzyme A dehydrogenase deficiency pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 25 10 0 0 0
likely pathogenic 26 0 10 0 0 0
uncertain significance 8 10 0 3 2 0
likely benign 0 0 1 0 6 1
benign 0 0 2 6 0 1

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Medium-chain acyl-coenzyme A dehydrogenase deficiency 150 17 0 27 3 0 11 41
not provided 0 21 0 20 1 0 17 35
not specified 0 1 0 8 2 0 0 10
MCAD deficiency, modifier of 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.*39G>A rs17848065
NM_000016.5(ACADM):c.*77C>T rs143911981
NM_000016.5(ACADM):c.-34T>C rs59932454
NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter) rs148207467
NM_000016.5(ACADM):c.107_113dup (p.Ser38Argfs) rs875989875
NM_000016.5(ACADM):c.1114dup (p.Ala372Glyfs) rs1057516278
NM_000016.5(ACADM):c.1161A>G (p.Val387=) rs1061337
NM_000016.5(ACADM):c.118+18T>A rs755405418
NM_000016.5(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371
NM_000016.5(ACADM):c.1247T>C (p.Ile416Thr) rs760892123
NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.134A>G (p.Gln45Arg) rs757434857
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.177A>C (p.Glu59Asp) rs1057520214
NM_000016.5(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.5(ACADM):c.216+10T>C rs2275378
NM_000016.5(ACADM):c.244dupT (p.Trp82Leufs) rs786204566
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.253G>T (p.Gly85Cys) rs398123075
NM_000016.5(ACADM):c.287-2A>G rs1057518677
NM_000016.5(ACADM):c.320T>C (p.Leu107Ser) rs746136472
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000016.5(ACADM):c.387+1delG rs786204424
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.388-5G>A rs759254037
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.430_432del (p.Lys144del) rs875989857
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.449_452delCTGA (p.Thr150Argfs) rs786204642
NM_000016.5(ACADM):c.469-9A>G rs181322317
NM_000016.5(ACADM):c.489T>G (p.Pro163=) rs78392995
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.599+2T>C rs148260275
NM_000016.5(ACADM):c.599+5G>A rs875989861
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000016.5(ACADM):c.617G>A (p.Arg206His) rs200724875
NM_000016.5(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.817_829del (p.Ala273Leufs) rs875989872
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.5(ACADM):c.926dup (p.Gly310Argfs) rs875989864
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.984del (p.Met328Ilefs) rs747610156
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Terfs) rs1225471006

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