GeneBe

NM_001609.4:c.1128+2_1128+3insGA

Variant names:

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+3insGA variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 0)
Exomes 𝑓: 0.0000011 ( 0 hom. )

Consequence

ACADSB
NM_001609.4 splice_region, intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 2.38

Publications

0 publications found
Variant links:
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 deficiency
    Inheritance: AR Classification: DEFINITIVE, STRONG, MODERATE, SUPPORTIVE Submitted by: ClinGen, Orphanet, Labcorp Genetics (formerly Invitae), Ambry Genetics, PanelApp Australia

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ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
ACADSBNM_001609.4 linkc.1128+2_1128+3insGA splice_region_variant, intron_variant Intron 9 of 10 ENST00000358776.7 NP_001600.1 P45954-1A0A0S2Z3P9
ACADSBNM_001330174.3 linkc.822+2_822+3insGA splice_region_variant, intron_variant Intron 8 of 9 NP_001317103.1 P45954-2

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
ACADSBENST00000358776.7 linkc.1128+2_1128+3insGA splice_region_variant, intron_variant Intron 9 of 10 1 NM_001609.4 ENSP00000357873.3 P45954-1
ACADSBENST00000368869.8 linkc.822+2_822+3insGA splice_region_variant, intron_variant Intron 8 of 9 2 ENSP00000357862.4 P45954-2

Frequencies

GnomAD3 genomes
Cov.:
0
GnomAD4 exome
AF:
0.00000106
AC:
1
AN:
941580
Hom.:
0
Cov.:
0
AF XY:
0.00
AC XY:
0
AN XY:
462998
show subpopulations
African (AFR)
AF:
0.00
AC:
0
AN:
17458
American (AMR)
AF:
0.00
AC:
0
AN:
10614
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
11526
East Asian (EAS)
AF:
0.00
AC:
0
AN:
14742
South Asian (SAS)
AF:
0.00
AC:
0
AN:
48822
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
19132
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
2202
European-Non Finnish (NFE)
AF:
0.00000128
AC:
1
AN:
782234
Other (OTH)
AF:
0.00
AC:
0
AN:
34850
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.525
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Exome Het
Variant carriers
0
2
4
6
8
10
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
GnomAD4 genome
Cov.:
0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
2.4

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

Other links and lift over

dbSNP: rs1554874107; hg19: chr10-124810704; API