8-2057439-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003970.4(MYOM2):c.355C>T(p.Arg119Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000039 in 1,613,990 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R119G) has been classified as Uncertain significance.
Frequency
Consequence
NM_003970.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152180Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000559 AC: 14AN: 250570Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135552
GnomAD4 exome AF: 0.0000410 AC: 60AN: 1461692Hom.: 0 Cov.: 71 AF XY: 0.0000399 AC XY: 29AN XY: 727134
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152298Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74466
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at