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NM_000016.6(ACADM):c.926dup (p.Gly310fs)

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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:
Aug 20, 2020
Accession:
VCV000226077.3
Variation ID:
226077
Description:
1bp duplication
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NM_000016.6(ACADM):c.926dup (p.Gly310fs)

Allele ID
227901
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 75750524-75750525 (GRCh38) GRCh38 UCSC
1: 76216209-76216210 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.76216212dup
NC_000001.11:g.75750527dup
NG_007045.2:g.31170dup
... more HGVS
Protein change
G121fs, G314fs, G274fs, G310fs, G343fs
Other names
-
Canonical SPDI
NC_000001.11:75750524:TTT:TTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10576239
dbSNP: rs875989864
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 Aug 20, 2020 RCV000211520.4
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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: SCV000268462.1
Submitted: (May 05, 2016)
Evidence details
Likely pathogenic
(Feb 24, 2016)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000485849.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Aug 20, 2020)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV001589266.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Gly310Argfs*16) in the ACADM gene. It is expected to result in an absent or disrupted protein … (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
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Smith EH Molecular genetics and metabolism 2010 PMID: 20434380
Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. Tolwani RJ PLoS genetics 2005 PMID: 16121256

Text-mined citations for rs875989864...

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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