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NM_000016.6(ACADM):c.464T>C (p.Met155Thr) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 20, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000211471.1

Allele description

NM_000016.6(ACADM):c.464T>C (p.Met155Thr)

Gene:
ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)
HGVS:
  • NC_000001.11:g.75734867T>C
  • NG_007045.2:g.15510T>C
  • NM_000016.6:c.464T>CMANE SELECT
  • NM_001127328.3:c.476T>C
  • NM_001286042.2:c.356T>C
  • NM_001286043.2:c.563T>C
  • NM_001286044.2:c.-100+1945T>C
  • NP_000007.1:p.Met155Thr
  • NP_001120800.1:p.Met159Thr
  • NP_001272971.1:p.Met119Thr
  • NP_001272972.1:p.Met188Thr
  • LRG_838:g.15510T>C
  • NC_000001.10:g.76200552T>C
  • NM_000016.4:c.464T>C
Protein change:
M119T
Links:
dbSNP: rs875989876
NCBI 1000 Genomes Browser:
rs875989876
Molecular consequence:
  • NM_001286044.2:c.-100+1945T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000016.6:c.464T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127328.3:c.476T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286042.2:c.356T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286043.2:c.563T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD)
Synonyms:
CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; MCADD; Medium chain acyl-CoA dehydrogenase deficiency
Identifiers:
MONDO: MONDO:0008721; MedGen: C0220710; Orphanet: 42; OMIM: 201450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000268504ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 20, 2015) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000268504.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing
(GTR000500814.1)		 PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided
(GTR000500814.1)		1not providednot providednot provided

Last Updated: Oct 25, 2021