rs115382168
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBP6_Very_Strong
The NM_003803.4(MYOM1):c.2179A>G(p.Thr727Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000744 in 1,613,766 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T727M) has been classified as Uncertain significance.
Frequency
Consequence
NM_003803.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYOM1 | NM_003803.4 | c.2179A>G | p.Thr727Ala | missense_variant | 15/38 | ENST00000356443.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYOM1 | ENST00000356443.9 | c.2179A>G | p.Thr727Ala | missense_variant | 15/38 | 1 | NM_003803.4 | P2 | |
MYOM1 | ENST00000261606.11 | c.2179A>G | p.Thr727Ala | missense_variant | 15/37 | 1 | A2 | ||
MYOM1 | ENST00000577294.1 | n.235A>G | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00315 AC: 479AN: 152024Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00114 AC: 285AN: 249046Hom.: 1 AF XY: 0.000851 AC XY: 115AN XY: 135122
GnomAD4 exome AF: 0.000495 AC: 723AN: 1461624Hom.: 3 Cov.: 30 AF XY: 0.000451 AC XY: 328AN XY: 727084
GnomAD4 genome ? AF: 0.00314 AC: 477AN: 152142Hom.: 0 Cov.: 31 AF XY: 0.00298 AC XY: 222AN XY: 74386
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Nov 24, 2014 | Thr727Ala in exon 15 of MYOM1: This variant is not expected to have clinical sig nificance because it has been identified in 1.1% (42/3852) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs115382168). - |
MYOM1-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Mar 26, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Hypertrophic cardiomyopathy Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 28, 2024 | - - |
Cardiovascular phenotype Benign:1
Benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 28, 2013 | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at