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NM_014049.4(ACAD9):c.1237G>A

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 10, 2018)
Last evaluated:
Aug 4, 2017
Accession:
VCV000242463.1
Variation ID:
242463
Description:
single nucleotide variant
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NM_014049.4(ACAD9):c.1237G>A (p.Glu413Lys)

Allele ID
214386
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.3
Genomic location
3: 128906208 (GRCh38) GRCh38 UCSC
3: 128625051 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.12:g.128906208G>A
NC_000003.11:g.128625051G>A
NM_014049.4:c.1237G>A NP_054768.2:p.Glu413Lys missense
... more HGVS
Protein change
E413K
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
UniProtKB: Q9H845#VAR_071900
dbSNP: rs149753643
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 4, 2017 RCV000756947.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACAD9 - - GRCh38
GRCh37
90 128

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 04, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000884941.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The c.1237G>A; p.Glu413Lys ACAD9 variant has been previously reported in a patient who also carried the c.187G>T; p.Glu62Ter variant. She presented after 4 months of ... (more)

Citations for this variant

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

Record last updated Jun 22, 2019