chr2-170369248-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_138995.5(MYO3B):c.842G>A(p.Arg281Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,612,836 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 Uncertain significance (★).
Frequency
Consequence
NM_138995.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152060Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 248916Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135040
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1460776Hom.: 0 Cov.: 30 AF XY: 0.0000206 AC XY: 15AN XY: 726640
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152060Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74238
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.842G>A (p.R281Q) alteration is located in exon 9 (coding exon 9) of the MYO3B gene. This alteration results from a G to A substitution at nucleotide position 842, causing the arginine (R) at amino acid position 281 to be replaced by a glutamine (Q). 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