rs893367
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_022899.5(ACTR8):c.911+244G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.565 in 152,134 control chromosomes in the GnomAD database, including 25,998 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 0.57 ( 25998 hom., cov: 33)
Consequence
ACTR8
NM_022899.5 intron
NM_022899.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.59
Genes affected
ACTR8 (HGNC:14672): (actin related protein 8) Predicted to enable ATP binding activity. Predicted to be involved in chromatin remodeling; double-strand break repair; and regulation of transcription, DNA-templated. Located in centrosome and nucleoplasm. Part of Ino80 complex. [provided by Alliance of Genome Resources, Apr 2022]
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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=-0.96).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.927 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACTR8 | NM_022899.5 | c.911+244G>T | intron_variant | ENST00000335754.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACTR8 | ENST00000335754.8 | c.911+244G>T | intron_variant | 2 | NM_022899.5 | P1 | |||
ACTR8 | ENST00000482349.5 | c.578+244G>T | intron_variant | 2 | |||||
ACTR8 | ENST00000486794.1 | c.307+244G>T | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.565 AC: 85880AN: 152016Hom.: 25939 Cov.: 33
GnomAD3 genomes
?
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85880
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152016
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33
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.565 AC: 85996AN: 152134Hom.: 25998 Cov.: 33 AF XY: 0.571 AC XY: 42438AN XY: 74380
GnomAD4 genome
?
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AC:
85996
AN:
152134
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Cov.:
33
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42438
AN XY:
74380
Gnomad4 AFR
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2813
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at