rs79074016
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The NM_001101.5(ACTB):c.426G>T(p.Leu142Leu) variant causes a synonymous change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00554 in 1,613,986 control chromosomes in the GnomAD database, including 34 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001101.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00356 AC: 542AN: 152204Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00463 AC: 1163AN: 251280Hom.: 7 AF XY: 0.00465 AC XY: 631AN XY: 135832
GnomAD4 exome AF: 0.00575 AC: 8398AN: 1461664Hom.: 33 Cov.: 66 AF XY: 0.00575 AC XY: 4183AN XY: 727152
GnomAD4 genome AF: 0.00356 AC: 543AN: 152322Hom.: 1 Cov.: 33 AF XY: 0.00309 AC XY: 230AN XY: 74482
ClinVar
Submissions by phenotype
not provided Benign:4
ACTB: BP4, BS2 -
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
- -
- -
Baraitser-Winter syndrome 1 Benign:2
- -
- -
not specified Benign:1
- -
ACTB-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Baraitser-Winter syndrome 1;C5848323:Developmental malformations-deafness-dystonia syndrome Benign:1
- -
Developmental malformations-deafness-dystonia syndrome Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at