NM_033054.3:c.1466T>C
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_033054.3(MYO1G):c.1466T>C(p.Met489Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.855 in 1,609,976 control chromosomes in the GnomAD database, including 590,159 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_033054.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.880 AC: 133420AN: 151598Hom.: 58947 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.868 AC: 216816AN: 249864 AF XY: 0.863 show subpopulations
GnomAD4 exome AF: 0.853 AC: 1243681AN: 1458260Hom.: 531157 Cov.: 66 AF XY: 0.852 AC XY: 617939AN XY: 725412 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.880 AC: 133534AN: 151716Hom.: 59002 Cov.: 32 AF XY: 0.881 AC XY: 65354AN XY: 74190 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at