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NM_001609.4(ACADSB):c.726G>A (p.Pro242=)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 20, 2020
Accession:
VCV000703330.3
Variation ID:
703330
Description:
single nucleotide variant
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NM_001609.4(ACADSB):c.726G>A (p.Pro242=)

Allele ID
692796
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q26.13
Genomic location
10: 123043090 (GRCh38) GRCh38 UCSC
10: 124802606 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.124802606G>A
NC_000010.11:g.123043090G>A
NM_001609.4:c.726G>A MANE Select NP_001600.1:p.Pro242= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:123043089:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00021
Links
dbSNP: rs148114788
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter May 20, 2020 RCV000872874.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADSB - - GRCh38
GRCh37
225 275

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 20, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of 2-methylbutyryl-CoA dehydrogenase
Allele origin: germline
Invitae
Accession: SCV001014759.3
Submitted: (Jan 07, 2021)
Evidence details

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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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 rs148114788...

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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 Jun 14, 2021