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NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 9, 2020
Accession:
VCV000226068.5
Variation ID:
226068
Description:
single nucleotide variant
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NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)

Allele ID
227873
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 75733588 (GRCh38) GRCh38 UCSC
1: 76199273 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P11310:p.Cys116Tyr
NC_000001.10:g.76199273G>A
NM_000016.5:c.347G>A NP_000007.1:p.Cys116Tyr missense
... more HGVS
Protein change
C116Y, C120Y, C80Y, C149Y
Other names
-
Canonical SPDI
NC_000001.11:75733587:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA10576226
UniProtKB: P11310#VAR_015955
dbSNP: rs875989859
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Sep 9, 2020 RCV000211454.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADM - - GRCh38
GRCh37
463 491

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 20, 2015)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
(Autosomal recessive inheritance)
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000268452.1
Submitted: (May 05, 2016)
Evidence details
Likely pathogenic
(Oct 04, 2017)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000792310.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (3)
Pathogenic
(Sep 09, 2020)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000933584.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces cysteine with tyrosine at codon 116 of the ACADM protein (p.Cys116Tyr). The cysteine residue is highly conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Medium chain acyl-CoA dehydrogenase deficiency in a premature infant. Dobrowolski SF Pediatric reports 2017 PMID: 29285339
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. Al-Hassnan ZN Journal of inherited metabolic disease 2010 PMID: 20567907
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. ter Veld F PloS one 2009 PMID: 19649258
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Andresen BS Human molecular genetics 1997 PMID: 9158144

Text-mined citations for rs875989859...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021