rs9304930

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The ENST00000588485.6(ACSBG2):​c.507+1930T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.114 in 150,488 control chromosomes in the GnomAD database, including 1,985 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.11 ( 1985 hom., cov: 28)

Consequence

ACSBG2
ENST00000588485.6 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.141
Variant links:
Genes affected
ACSBG2 (HGNC:24174): (acyl-CoA synthetase bubblegum family member 2) Enables acyl-CoA hydrolase activity and arachidonate-CoA ligase activity. Acts upstream of or within fatty acid metabolic process. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
RFX2 (HGNC:9983): (regulatory factor X2) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.93).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.295 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
ACSBG2NM_030924.5 linkuse as main transcriptc.507+1930T>C intron_variant ENST00000588485.6 NP_112186.3
LOC105372255XR_936282.3 linkuse as main transcriptn.218-10152A>G intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ACSBG2ENST00000588485.6 linkuse as main transcriptc.507+1930T>C intron_variant 1 NM_030924.5 ENSP00000466336 P1Q5FVE4-1

Frequencies

GnomAD3 genomes
AF:
0.114
AC:
17171
AN:
150388
Hom.:
1977
Cov.:
28
show subpopulations
Gnomad AFR
AF:
0.300
Gnomad AMI
AF:
0.0197
Gnomad AMR
AF:
0.0553
Gnomad ASJ
AF:
0.0490
Gnomad EAS
AF:
0.0499
Gnomad SAS
AF:
0.0721
Gnomad FIN
AF:
0.0346
Gnomad MID
AF:
0.0665
Gnomad NFE
AF:
0.0436
Gnomad OTH
AF:
0.0849
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.114
AC:
17214
AN:
150488
Hom.:
1985
Cov.:
28
AF XY:
0.112
AC XY:
8236
AN XY:
73570
show subpopulations
Gnomad4 AFR
AF:
0.300
Gnomad4 AMR
AF:
0.0552
Gnomad4 ASJ
AF:
0.0490
Gnomad4 EAS
AF:
0.0496
Gnomad4 SAS
AF:
0.0720
Gnomad4 FIN
AF:
0.0346
Gnomad4 NFE
AF:
0.0436
Gnomad4 OTH
AF:
0.0897
Alfa
AF:
0.0533
Hom.:
805
Bravo
AF:
0.127
Asia WGS
AF:
0.0910
AC:
317
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.93
CADD
Benign
5.4
DANN
Benign
0.26

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.060
Details are displayed if max score is > 0.2

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs9304930; hg19: chr19-6158492; API