rs1060499738
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PP2PP3_StrongPP5_Moderate
The NM_016188.5(ACTL6B):c.893G>A(p.Arg298Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,613,934 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★).
Frequency
Consequence
NM_016188.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152096Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461838Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 727224
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152096Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74284
ClinVar
Submissions by phenotype
Developmental and epileptic encephalopathy, 76 Pathogenic:2
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Global developmental delay;C3714756:Intellectual disability Pathogenic:1
ACTL6B is a component of brain-specific chromatin remodeling complexes containing the ATPases Brg1 (SMARCA4) and Brm (SMARCA2). Several SMARCA genes are konown to be associated with DD/ID syndromes -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at