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NM_001609.3(ACADSB):c.*262C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 3, 2021)
Last evaluated:
Jul 9, 2018
Accession:
VCV000299099.5
Variation ID:
299099
Description:
single nucleotide variant
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NM_001609.3(ACADSB):c.*262C>T

Allele ID
320547
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q26.13
Genomic location
10: 123054027 (GRCh38) GRCh38 UCSC
10: 124813543 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_451t1:c.*262C>T
NM_001609.3:c.*262C>T 3 prime UTR
LRG_451:g.50115C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:123054026:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.44149 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.42419
1000 Genomes Project 0.44149
Trans-Omics for Precision Medicine (TOPMed) 0.44713
Links
ClinGen: CA10634862
dbSNP: rs12248515
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 Jan 13, 2018 RCV000275814.2
Benign 1 criteria provided, single submitter Jul 9, 2018 RCV001594935.3
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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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of 2-methylbutyryl-CoA dehydrogenase
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000361270.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jul 09, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001828138.1
Submitted: (Sep 03, 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 rs12248515...

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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 Oct 08, 2021