rs10492416
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001198950.3(MYO16):c.507+18803T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,984 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_001198950.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYO16 | ENST00000457511.7 | c.507+18803T>A | intron_variant | Intron 4 of 34 | 1 | NM_001198950.3 | ENSP00000401633.3 | |||
MYO16 | ENST00000356711.7 | c.441+18803T>A | intron_variant | Intron 4 of 34 | 1 | ENSP00000349145.2 | ||||
MYO16 | ENST00000251041.10 | c.441+18803T>A | intron_variant | Intron 4 of 24 | 5 | ENSP00000251041.5 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151984Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151984Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74210 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at