17-10521286-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM2BP4_ModerateBP6BP7BS1
The NM_017534.6(MYH2):āc.5820A>Gā(p.Glu1940Glu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000849 in 1,613,792 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_017534.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYH2 | NM_017534.6 | c.5820A>G | p.Glu1940Glu | synonymous_variant | Exon 40 of 40 | ENST00000245503.10 | NP_060004.3 | |
MYH2 | NM_001100112.2 | c.5820A>G | p.Glu1940Glu | synonymous_variant | Exon 40 of 40 | NP_001093582.1 | ||
MYHAS | NR_125367.1 | n.168-46251T>C | intron_variant | Intron 2 of 10 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000486 AC: 74AN: 152230Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000119 AC: 30AN: 251448Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135896
GnomAD4 exome AF: 0.0000431 AC: 63AN: 1461444Hom.: 0 Cov.: 30 AF XY: 0.0000426 AC XY: 31AN XY: 727026
GnomAD4 genome AF: 0.000486 AC: 74AN: 152348Hom.: 0 Cov.: 32 AF XY: 0.000430 AC XY: 32AN XY: 74498
ClinVar
Submissions by phenotype
Myopathy, proximal, and ophthalmoplegia Uncertain:1Benign:1
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not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at