NM_003803.4:c.4662C>T
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_003803.4(MYOM1):c.4662C>T(p.Ala1554Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.172 in 1,575,868 control chromosomes in the GnomAD database, including 25,737 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_003803.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYOM1 | ENST00000356443.9 | c.4662C>T | p.Ala1554Ala | synonymous_variant | Exon 35 of 38 | 1 | NM_003803.4 | ENSP00000348821.4 | ||
MYOM1 | ENST00000261606.11 | c.4374C>T | p.Ala1458Ala | synonymous_variant | Exon 34 of 37 | 1 | ENSP00000261606.7 | |||
MYOM1 | ENST00000581075.1 | n.*308C>T | non_coding_transcript_exon_variant | Exon 8 of 8 | 5 | ENSP00000462039.1 | ||||
MYOM1 | ENST00000581075.1 | n.*308C>T | 3_prime_UTR_variant | Exon 8 of 8 | 5 | ENSP00000462039.1 |
Frequencies
GnomAD3 genomes AF: 0.182 AC: 27661AN: 152032Hom.: 2708 Cov.: 32
GnomAD3 exomes AF: 0.178 AC: 39301AN: 220554Hom.: 3744 AF XY: 0.176 AC XY: 20948AN XY: 118838
GnomAD4 exome AF: 0.171 AC: 243246AN: 1423718Hom.: 23020 Cov.: 33 AF XY: 0.171 AC XY: 121152AN XY: 707350
GnomAD4 genome AF: 0.182 AC: 27695AN: 152150Hom.: 2717 Cov.: 32 AF XY: 0.190 AC XY: 14113AN XY: 74340
ClinVar
Submissions by phenotype
not provided Benign:2
- -
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not specified Benign:1
Ala1554Ala in exon 35 of MYOM1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 17.0% (1395/8220) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs16944353). -
MYOM1-related disorder Benign:1
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
- -
Cardiovascular phenotype Benign:1
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