Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000016.6(ACADM):c.755T>G (p.Phe252Cys)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 30, 2019
Accession:
VCV000226067.6
Variation ID:
226067
Description:
single nucleotide variant
Help

NM_000016.6(ACADM):c.755T>G (p.Phe252Cys)

Allele ID
227896
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 75749465 (GRCh38) GRCh38 UCSC
1: 76215150 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.75749465T>G
NG_007045.2:g.30108T>G
NM_000016.6:c.755T>G MANE Select NP_000007.1:p.Phe252Cys missense
... more HGVS
Protein change
F252C, F256C, F63C, F216C, F285C
Other names
-
Canonical SPDI
NC_000001.11:75749464:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA913198
dbSNP: rs780510026
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Jul 30, 2019 RCV000211533.7

Clinical features observed in individuals with this variant

Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADM - - GRCh38
GRCh37
462 490

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(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: SCV000268451.1
Submitted: (May 05, 2016)
Evidence details
Uncertain significance
(Mar 18, 2019)
criteria provided, single submitter
Method: clinical testing
Acyl-coa dehydrogenase, medium-chain, deficiency of
Allele origin: germline
Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV001448920.1
Submitted: (Sep 02, 2020)
Evidence details
Pathogenic
(Jul 30, 2019)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000630295.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces phenylalanine with cysteine at codon 252 of the ACADM protein (p.Phe252Cys). The phenylalanine residue is highly conserved and there is a … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Medium-chain acyl-coenzyme a dehydrogenase deficiency
Allele origin: germline
Natera, Inc.
Accession: SCV001461469.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

Help
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

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs780510026...

Help
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 11, 2021