5-150671902-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001122853.3(MYOZ3):c.418G>A(p.Ala140Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000324 in 1,545,162 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001122853.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000216 AC: 3AN: 139006Hom.: 0 AF XY: 0.0000130 AC XY: 1AN XY: 76902
GnomAD4 exome AF: 0.00000215 AC: 3AN: 1392978Hom.: 0 Cov.: 32 AF XY: 0.00000145 AC XY: 1AN XY: 689020
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.418G>A (p.A140T) alteration is located in exon 5 (coding exon 4) of the MYOZ3 gene. This alteration results from a G to A substitution at nucleotide position 418, causing the alanine (A) at amino acid position 140 to be replaced by a threonine (T). 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