rs764839969
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 6P and 1B. PM2PP3_StrongBP6
The NM_003803.4(MYOM1):c.4792G>A(p.Gly1598Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00017 in 1,613,652 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_003803.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYOM1 | NM_003803.4 | c.4792G>A | p.Gly1598Arg | missense_variant | 38/38 | ENST00000356443.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYOM1 | ENST00000356443.9 | c.4792G>A | p.Gly1598Arg | missense_variant | 38/38 | 1 | NM_003803.4 | P2 | |
MYOM1 | ENST00000261606.11 | c.4504G>A | p.Gly1502Arg | missense_variant | 37/37 | 1 | A2 | ||
MYOM1 | ENST00000581804.1 | n.282G>A | non_coding_transcript_exon_variant | 3/3 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000125 AC: 19AN: 152212Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000229 AC: 57AN: 248922Hom.: 0 AF XY: 0.000281 AC XY: 38AN XY: 135022
GnomAD4 exome AF: 0.000174 AC: 255AN: 1461440Hom.: 0 Cov.: 33 AF XY: 0.000183 AC XY: 133AN XY: 726996
GnomAD4 genome ? AF: 0.000125 AC: 19AN: 152212Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 27, 2022 | The p.G1598R variant (also known as c.4792G>A), located in coding exon 37 of the MYOM1 gene, results from a G to A substitution at nucleotide position 4792. The glycine at codon 1598 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. - |
Hypertrophic cardiomyopathy Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Aug 24, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at