5-16670737-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012334.3(MYO10):c.5672G>A(p.Arg1891Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000867 in 1,614,046 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012334.3 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: 0.0000657 AC: 10AN: 152224Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249152Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135160
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461704Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727136
GnomAD4 genome AF: 0.0000656 AC: 10AN: 152342Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5672G>A (p.R1891Q) alteration is located in exon 39 (coding exon 39) of the MYO10 gene. This alteration results from a G to A substitution at nucleotide position 5672, causing the arginine (R) at amino acid position 1891 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