5-57481867-T-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001017992.4(ACTBL2):c.841A>C(p.Asn281His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000744 in 1,613,924 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001017992.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152068Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 251022Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135628
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461856Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 727218
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152068Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74284
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.841A>C (p.N281H) alteration is located in exon 1 (coding exon 1) of the ACTBL2 gene. This alteration results from a A to C substitution at nucleotide position 841, causing the asparagine (N) at amino acid position 281 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at