rs1554874107
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_001609.4(ACADSB):c.1128+2_1128+3insTA variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 0)
Failed GnomAD Quality Control
Consequence
ACADSB
NM_001609.4 splice_region, intron
NM_001609.4 splice_region, intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 2.38
Publications
0 publications found
Genes affected
ACADSB (HGNC:91): (acyl-CoA dehydrogenase short/branched chain) Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]
ACADSB Gene-Disease associations (from GenCC):
- 2-methylbutyryl-CoA dehydrogenase deficiencyInheritance: AR Classification: DEFINITIVE, STRONG, MODERATE, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), ClinGen, Ambry Genetics, Orphanet
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ACMG classification
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_001609.4. You can select a different transcript below to see updated ACMG assignments.
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ACADSB | TSL:1 MANE Select | c.1128+2_1128+3insTA | splice_region intron | N/A | ENSP00000357873.3 | P45954-1 | |||
| ACADSB | c.1035+2_1035+3insTA | splice_region intron | N/A | ENSP00000578812.1 | |||||
| ACADSB | c.991-1873_991-1872insTA | intron | N/A | ENSP00000578809.1 |
Frequencies
GnomAD3 genomes 0.00 AC: 0AN: 76456Hom.: 0 Cov.: 0
GnomAD3 genomes
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GnomAD4 exome Cov.: 0
GnomAD4 exome
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0
GnomAD4 genome 0.00 AC: 0AN: 76456Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 34186
GnomAD4 genome
Data not reliable, filtered out with message: AC0
AF:
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0
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76456
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0
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34186
African (AFR)
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0
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18306
American (AMR)
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0
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5184
Ashkenazi Jewish (ASJ)
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0
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2230
East Asian (EAS)
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0
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2256
South Asian (SAS)
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0
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1872
European-Finnish (FIN)
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0
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1074
Middle Eastern (MID)
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0
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84
European-Non Finnish (NFE)
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0
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43834
Other (OTH)
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0
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936
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ClinVar
ClinVar submissions
View on ClinVar Significance:Uncertain significance
Revision:criteria provided, single submitter
Pathogenic
VUS
Benign
Condition
-
1
-
Deficiency of 2-methylbutyryl-CoA dehydrogenase (1)
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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