15-52194038-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018728.4(MYO5C):c.5093G>A(p.Arg1698Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000304 in 1,612,620 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018728.4 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: 0.00000657 AC: 1AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000282 AC: 7AN: 247808Hom.: 0 AF XY: 0.0000372 AC XY: 5AN XY: 134410
GnomAD4 exome AF: 0.0000329 AC: 48AN: 1460476Hom.: 0 Cov.: 31 AF XY: 0.0000358 AC XY: 26AN XY: 726448
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5093G>A (p.R1698Q) alteration is located in exon 41 (coding exon 41) of the MYO5C gene. This alteration results from a G to A substitution at nucleotide position 5093, causing the arginine (R) at amino acid position 1698 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