2-170383738-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_138995.5(MYO3B):c.1214G>A(p.Arg405His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00011 in 1,613,440 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152010Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000128 AC: 32AN: 249148Hom.: 0 AF XY: 0.000104 AC XY: 14AN XY: 135150
GnomAD4 exome AF: 0.000106 AC: 155AN: 1461430Hom.: 0 Cov.: 29 AF XY: 0.000111 AC XY: 81AN XY: 727018
GnomAD4 genome AF: 0.000151 AC: 23AN: 152010Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74252
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1214G>A (p.R405H) alteration is located in exon 12 (coding exon 12) of the MYO3B gene. This alteration results from a G to A substitution at nucleotide position 1214, causing the arginine (R) at amino acid position 405 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