2-170217351-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138995.5(MYO3B):c.559C>T(p.Arg187Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000322 in 1,614,080 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000561 AC: 14AN: 249566Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135398
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461768Hom.: 0 Cov.: 30 AF XY: 0.0000206 AC XY: 15AN XY: 727194
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152312Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74484
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.559C>T (p.R187W) alteration is located in exon 6 (coding exon 6) of the MYO3B gene. This alteration results from a C to T substitution at nucleotide position 559, causing the arginine (R) at amino acid position 187 to be replaced by a tryptophan (W). 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