rs727504688
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4BP7
The NM_017433.5(MYO3A):c.4567C>A(p.Arg1523=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000038 in 1,578,928 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_017433.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYO3A | NM_017433.5 | c.4567C>A | p.Arg1523= | synonymous_variant | 33/35 | ENST00000642920.2 | NP_059129.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO3A | ENST00000642920.2 | c.4567C>A | p.Arg1523= | synonymous_variant | 33/35 | NM_017433.5 | ENSP00000495965 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151744Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000421 AC: 1AN: 237596Hom.: 0 AF XY: 0.00000778 AC XY: 1AN XY: 128522
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1427066Hom.: 0 Cov.: 25 AF XY: 0.00000281 AC XY: 2AN XY: 710606
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151862Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74248
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at