NM_015460.4:c.392G>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015460.4(MYRIP):c.392G>T(p.Arg131Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,458,292 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015460.4 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 Cov.: 33
GnomAD3 exomes AF: 0.0000283 AC: 7AN: 247436Hom.: 0 AF XY: 0.0000449 AC XY: 6AN XY: 133772
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1458292Hom.: 0 Cov.: 30 AF XY: 0.0000234 AC XY: 17AN XY: 725288
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.392G>T (p.R131L) alteration is located in exon 4 (coding exon 3) of the MYRIP gene. This alteration results from a G to T substitution at nucleotide position 392, causing the arginine (R) at amino acid position 131 to be replaced by a leucine (L). 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