rs182332665
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016239.4(MYO15A):āc.10573A>Cā(p.Ser3525Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,276 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_016239.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYO15A | NM_016239.4 | c.10573A>C | p.Ser3525Arg | missense_variant | Exon 66 of 66 | ENST00000647165.2 | NP_057323.3 | |
MYO15A | XM_017024715.3 | c.10576A>C | p.Ser3526Arg | missense_variant | Exon 64 of 64 | XP_016880204.1 | ||
MYO15A | XM_017024714.3 | c.10513A>C | p.Ser3505Arg | missense_variant | Exon 63 of 63 | XP_016880203.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461276Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726940
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.