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NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 20, 2020
Accession:
VCV000299087.5
Variation ID:
299087
Description:
single nucleotide variant
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NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr)

Allele ID
321019
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q26.13
Genomic location
10: 123053119 (GRCh38) GRCh38 UCSC
10: 124812635 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_451:g.49207A>C
LRG_451t1:c.1187A>C LRG_451p1:p.Lys396Thr
NC_000010.10:g.124812635A>C
... more HGVS
Protein change
K396T, K294T
Other names
-
Canonical SPDI
NC_000010.11:123053118:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00040
The Genome Aggregation Database (gnomAD) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00028
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Exome Aggregation Consortium (ExAC) 0.00024
Links
ClinGen: CA5730954
dbSNP: rs148640214
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Nov 20, 2020 RCV000375544.7
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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
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of 2-methylbutyryl-CoA dehydrogenase
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000361258.3
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)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of 2-methylbutyryl-CoA dehydrogenase
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894526.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Benign
(Nov 20, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of 2-methylbutyryl-CoA dehydrogenase
Allele origin: germline
Invitae
Accession: SCV000816766.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs148640214...

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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 20, 2021